16p13.11CNV Type: Deletion-Duplication
Largest CNV size: 1560000 bp
Statistics Box:
Number of Reports: 70
Number of Reports: 70
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion-Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Duplication
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Deletion
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Comorbidities associated with genetic abnormalities in children with intellectual disability
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion-Duplication
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD/DD/ID_discovery_cases
Cases (children referred to Guy's and St. Thomas NHS Foundation Trust, southeastern UK from pediatricians and regional hospital) from Brain and Body Genetics Research Exchange (BBGRE)
4092
Developmental delay, ASD, speech or language delay or congenital defects
N/A
63.0% Male
1256986
1
0
1
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
1713128
0
41
41
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
808485
0
1
1
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
790000
0
2
2
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
1300000
1
1
2
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
67000
2
0
2
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
913100
1
0
1
breuss_19_ASD_discovery_cases
ASD probands from the REACH cohort and from a cohort of ASD probands with an additional diagnosis of epilepsy (NYU Medical School)
20
Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
N/A
N/A
913100
1
0
1
chaudhry_14_ASD/DD/ID_discovery_cases
Individuals with PTCHD1 deletions (Xp22.11 locus) not previously published
11
Most common diagnoses: ASD or autistic features, developmental delay (DD), and intellectual disability (ID)
Range, 1.25-10 yrs.
90.91% Male
1100000
0
1
1
chen_21_ASD/DD/ID_discovery_cases
Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
61
Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
Range, 3-18 yrs. (median, 6 yrs.)
60.7% Male
1157300
0
1
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
790000
36
68
104
curry_13_DD/ID/ASD_discovery_cases
Individuals from 21 families containing 17p13.3 duplications with primary clinical diagnosis (out of 34 individuals), ascertained personally or by query of Signature Genomics, GeneDX, and DECIPHER databases
30
Common diagnoses/phenotypic feaures included developmental delay/intellectual disability, ASD, MCA, and dysmorphic features
Age range, fetus-adult
19 Male, 10 Female, 1 N/A
1240000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1361177
4
1
5
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
1323126
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1536280
6
12
18
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
845000
1
0
1
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
11307
1
0
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
1755770
2
1
3
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
750000
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
790000
45
98
143
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1650001
4
4
8
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
57479
1
0
1
granata_22_ASD/DD/ID_discovery_cases
Individuals with 16p13.11 deletions referred to the Medical Genetics Unit of ASST dei Sette Laghi Hospital (Varese, Italy) for genetic investigation and counseling, with medical indication of developmental disorders, learning delay, intellectual disability, with or without congenital dysmorphic features.
4
Intellectual disability (ID) was reported in 3/4 cases, developmental delay (DD) in 2/4 cases, and autism spectrum disorder (ASD) in 1/4 cases.
75% Male
1352103
2
0
2
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
1428770
0
1
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
1500000
0
1
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
1298369
1
1
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1817216
14
26
40
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
13107
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1459893
3
8
11
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
822731
0
1
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
1635275
2
3
5
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
1167451
0
1
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
1386113
0
4
4
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
1635276
2
4
6
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
13781
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
2800000
4
5
9
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
995291
2
1
3
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
577852
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1387949
1
2
3
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
1339604
1
1
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
1200000
1
0
1
mak_17_ASD_discovery_cases
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
258
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Range, 1.5-25 years
83.33% Male
1160000
0
2
2
martucci_23_ASD_discovery_cases
Children with ASD recruited between February 2016 and August 2021 at the Child Neuropsychiatry Unit of Umberto I Hospital, Sapienza University
130
Cases clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS
Mean age, 3.4 yrs. (range, 2-6 yrs)
83.85% Male
1034190
0
1
1
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
415489
1
0
1
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
1304875
0
1
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
1200000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
2620459
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
447700
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
883361
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
1406982
2
4
6
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
1435673
4
2
6
ramalingam_11_16p13.11_discovery_cases
Consecutive pediatric patients evaluated at Children's Mercy Hospitals & Clinics, Kansas City, MO.
1645
Patients diagnosed with one or more of the following: developmental delay (DD), autism (ASD), seizure, dysmorphic features, or multiple congenital anomalies
1560000
6
3
9
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
1600000
0
0
0
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
396587
0
1
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
5
5
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
837759
2
2
4
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
1018022
10
13
23
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
1676000
0
1
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
32678
2
0
2
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
1047000
0
1
1
siu_16_ASD_discovery_cases
41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T
68
Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.
Range, 2-33 yrs. (median age of 25 yrs.)
88.23% Male
1160000
0
4
4
tropeano_13_DD/ASD_discovery_cases
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
10397
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
N/A
63.4% Male
1366511
11
16
27
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
1305048
0
1
1
tuncay_23_ASD_discovery_cases
ASD probands from East African families with at least one child affected with ASD (30 simplex families, 3 multiplex families).
36
Cases diagnosed with ASD using ADOS, ADI-R, and DSM-V.
Mean age, 14.8 yrs./median age, 12.7 yrs.
77.78% Male
34503
2
0
2
ullmann_07_ASD_discovery_cases
Australian autism discovery cohort screened by aCGH
70
Autism, diagnosis based on fulfillment of DSM-IV-TR criteria
NA
NA
1500000
0
2
2
ullmann_07_ASD_replication_cases
Australian autism replication cohort screened by qPCR for 16p13.11 CNVs
112
Autism, diagnosis based on fulfillment of DSM-IV-TR criteria
NA
NA
1500000
0
1
1
ullmann_07_MR_discovery_cases
Patients with mental retardation in a Danish cohort, which were previously used in a Kirchhoff et al. 2005 CNV study.
95
Mental retardation (MR)
NA
NA
1500000
2
0
2
ullmann_07_MR_replication_cases
Patient with mental retardation, born to non-consanguineous parents, that was previously reported in a Rosenberg et al. 2006 aCGH study.
1
Mental retardation (MR)
12 yrs.
Male
1500000
1
0
1
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
1271854
0
1
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
1164000
0
1
1
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
1595507
0
2
2
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
1200000
0
1
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
1724212
0
1
1
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
1600000
2
0
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
40237
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
1891999
3
12
15
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1663518
1
12
13
zhang_23_ASD/DD/ID_discovery_cases
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
354
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Range, 1-12 yrs.
78.81% Male
1590616
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD/DD/ID_discovery_controls
Controls from the Wellcome Trust Case Control Consortium (WTCCC)
4783
Control
N/A
N/A
N/A
N/A
N/A
N/A
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
1326239
0
1
1
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
790000
7
27
34
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1316691
3
9
12
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
210958
0
1
1
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
790000
3
10
13
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
1650001
3
10
13
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
itsara_10_ASD_discovery_controls_2
Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
386
Children with mild-to-moderate asthma
Range, 5-17 yrs.
809653
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
787814
3
20
23
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
129865
0
3
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
84872
2
3
5
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
1386112
1
3
4
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
1386113
1
3
4
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
1400000
1
1
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
1031727
0
4
4
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
1417423
0
1
1
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
1600000
2
1
3
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
927636
7
6
13
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
1508132
4
8
12
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
1164000
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
40237
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
addis_15_ASD/DD/ID_discovery_cases
United Kingdom
aCGH
Agilent 60K
None
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
FISH, RT-PCR, or qmPCR
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
None
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
breuss_19_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
ForestSV, Lumpy, Mobster
SAMtools v.1.2, GATK v.3.3, Picard Tools v.1.129
PCR, ddPCR
chaudhry_14_ASD/DD/ID_discovery_cases
Predominantly Caucasian
Array SNP
Affymetrix CytoScan HD
None
chen_21_ASD/DD/ID_discovery_cases
Taiwan
CMA
CytoOne Array (Phalanx Biotech)
CBS
MATLAB v.R2009a
None
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
curry_13_DD/ID/ASD_discovery_cases
80% Caucasian
aCGH
Agilent SignatureChip OS (105K or 135K), 244K, 660K-Quad, or 105K; Oxford Gene Technology (OGT) 105K; Genome Dx 105K; Signature Genomics Laboratories BAC; Genzyme Clarisure; UNC SGLSelect 105K
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
granata_22_ASD/DD/ID_discovery_cases
Italy
aCGH
CytoSure ISCA V2 4x180K
NA
OGT Cytosure Interpret
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mak_17_ASD_discovery_cases
Chinese
aCGH
NimbleGen CGX-135K or Agilent-CGX 60K
None
martucci_23_ASD_discovery_cases
Italy
Array SNP
Affymetrix Genome-Wide Human 6.0
Affymetrix ChAS v.4.0
RT-PCR
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
Solid phase hybridization
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
ramalingam_11_16p13.11_discovery_cases
aCGH
Agilent 244K
ADM-2
Agilent CGH Analytics 3.2.5
qPCR
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
siu_16_ASD_discovery_cases
Hong Kong
aCGH
NimbleGen CGX-135K
DEVA, Genoglyphix
None
tropeano_13_DD/ASD_discovery_cases
70% Caucasian, 15% African, 15% other/mixed ancestry
aCGH
Agilent 60K
Feature Extraction, DNA Analytics
aCGH, MLPA
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
None
tuncay_23_ASD_discovery_cases
East Africa (Ethiopia, Eritrea, Kenya)
WGS
Illumina NovaSeq 6000
NA
CNVkit, GISTIC2.0.
None
ullmann_07_ASD_discovery_cases
Australian
aCGH
BACs aCGH
CGHPRO
qPCR
ullmann_07_ASD_replication_cases
Australian
qPCR
aCGH
ullmann_07_MR_discovery_cases
Danish
aCGH
BACs aCGH
CGHPRO
qPCR
ullmann_07_MR_replication_cases
Brazilian
aCGH
BACs aCGH
CGHPRO
FISH, aCGH, qPCR
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
None
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py software
FISH
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhang_23_ASD/DD/ID_discovery_cases
China
WGS
Illumina Novaseq
NA
CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
addis_15_ASD/DD/ID_discovery_controls
United Kingdom
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
itsara_10_ASD_discovery_controls_2
Hispanic/Mexican
Solid phase hybridization
Illumina HumanHap550 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
None
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
addis_15_ASD/DD/ID_discovery_cases-BBGRE112031
12 yrs.
F
Developmental delay
Developmental delay, hypotonia
14954893
16211879
1256987
GRCh38
Deletion
No
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case1
2 yrs.
M
Structural brain malformations
Birth/neonatal history: uneventful prenatal period; birth weight 80th %ile, length 50th %ile, OFC 80th %ile. Developmental milestones: no delays in development. Brain imaging: hypoplastic vermis and dysplastic cerebellar hemispheres on brain MRI. Visual evaluation: oculomotor apraxia.
14850703
16211879
1361177
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case10
6 yrs.
F
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 25th %ile, length 25th %ile, OFC 80th %ile; neonatal hypotonia. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Epilepsy/seizures: seizures. Visual evaluation: strabismus, hypermetropia. Dysmorphic features: high forehead, hypertelorism, short nose with anteverted nares, marked philtrum. Family history: phenotypically normal mother.
Learning disabilities
14816348
16493058
1676711
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case11
9 yrs.
F
Developmental delay and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 30th %ile, length 60th %ile, OFC 70th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Family history: mother with intellectual disability and facial dysmorphisms.
Learning disabilities
14954894
16211879
1256986
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case12
6 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight 50th %ile, length 75th %ile, OFC 75th %ile. Developmental milestones: developmental delay, motor delay. Behavioral/psychiatric evaluation: ASD. Family history: phenotypically normal mother.
Learning disabilities
15037866
16182258
1144393
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case15
25 yrs.
F
N/A
Birth/neonatal history: birth weight 75th %ile, length 80th %ile. Family history: phenotypically normal mother.
15398460
16211879
813420
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case16
1 yr.
F
Developmental delay
Birth/neonatal history: prenatal period marked by increased nuchal translucency, clubfoot, short femur, prefrontal edema, and intrauterine growth retardation; birth weight 90th %ile, length 25th %ile, OFC 50th %ile; neonatal feeding difficulties. Developmental milestones: developmental delay, motor delay, speech delay. Visual evaluation: myopia. Additional medical history: hemangiomas, cleft palate (Pierre Robin Sequence).
14954894
16211879
1256986
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case17
20 yrs.
F
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD. Family history: phenotypically normal mother.
Learning disabilities
14874998
16173449
1298452
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case18
4 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 10th %ile, length 10th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD. Additional medical history: umbilical hernia. Dysmorphic features: plagiocephaly, brachycephaly, hypertelorism, long philtrum. Family history: phenotypically normal father.
Learning disabilities
14874998
16155750
1280753
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case19
5 yrs.
F
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 15th %ile, length 10th %ile, OFC 50th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD. Family history: mother's phenotype was not reported.
Learning disabilities
14874998
16198378
1323381
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case2
9 yrs.
M
ASD and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 40th %ile, length 15th %ile, OFC 65th %ile. Developmental milestones: no delays in development. Behavioral/psychiatric evaluation: ASD. Family history: phenotypically normal mother.
Learning disabilities
15398260
15704145
305886
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case20
12 yrs.
F
Developmental delay and learning disabilities
Birth/neonatal history: prenatal period marked by intrauterine growth retardation; birth weight 5th %ile, length < 3rd %ile, OFC 5th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: short fingers, proximal placement of thumbs. Visual evaluation: corneal opacity. Family history: mother died of ruptured aneurysm.
Learning disabilities
14874998
16198378
1323381
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case21
9 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 90th %ile, length 95th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD. Dysmorphic features: deeply set eyes, long eyelashes, thin upper lip vermillion, round ears.
Learning disabilities
14958889
16142574
1183686
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case22
11 yrs.
F
Speech delay
Birth/neonatal history: uneventful prenatal period; birth weight 10th %ile, length 10th %ile, OFC 10th %ile. Developmental milestones: speech delay. Visual evaluation: myopia. Family history: mother had motor delay in infancy.
15034129
16195675
1161547
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case23
11 yrs.
F
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 10th %ile, length 10th %ile, OFC < 3rd %ile; neonatal feeding difficulties. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: valgus feet. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Visual evaluation: strabismus. Dysmorphic features: microcephaly, plagiocephaly, sparse blond hair, prominent supraorbital ridge, deeply set eyes, hypotelorism, large mouth, everted lower lip, macrodontia. Family history: phenotypically normal father.
Learning disabilities
15398460
15562493
164034
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case24
8 yrs.
M
ASD, speech delay, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 60th %ile, length 50th %ile, OFC 70th %ile; neonatal feeding difficulties. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Dysmorphic features: triangular face, plagiocephaly, small mouth, microretrognathia. Additional medical history: angioma, submucous cleft palate.
14874998
16198378
1323381
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case25
5 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 75th %ile, length 50th %ile, OFC > 97th %ile; neonatal feeding difficulties. Developmental milestones: developmental delay, speech delay. Motor and musculoskeletal evaluation: pes planus, valgus feet. Behavioral/psychiatric evaluation: ASD. Family history: phenotypically normal mother.
Learning disabilities
14874998
16198378
1323381
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case26
11 mos.
F
Developmental delay and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 35th %ile, length 50th %ile, OFC 5th %ile; neonatal hypotonia; neonatal feeding difficulties. Developmental milestones: developmental delay, motor delay, speech delay. Epilepsy/seizures: seizures. Brain imaging: partial corpus callosum agenesis, Dandy Walker malformation, hypoplastic vermis. Visual evaluation: ptosis, strabismus, amblyopia. Dysmorphic features: bitemporal narrowing, arched palate, deep palmar crease. Family history: father's phenotype was not reported.
14816371
16467265
1650895
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case27
5 yrs.
F
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 30th %ile, OFC 35th %ile; neonatal hypotonia. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD. Visual evaluation: strabismus.
Learning disabilities
14954894
16155750
1200857
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case28
3.5 yrs.
F
Developmental delay
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 25th %ile, OFC 80th %ile; neonatal hypotonia. Developmental milestones: developmental delay, motor delay, speech delay. Visual evaluation: oculomotor apraxia. Family history: phenotypically normal mother.
14979886
16198378
1218493
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case29
4.5 yrs.
M
Speech delay
Birth/neonatal history: uneventful prenatal period; birth weight 3rd %ile, length 10th %ile, OFC 10th %ile. Developmental milestones: speech delay. Brain imaging: hypoplastic cochlear nerve.
14954894
16182258
1227365
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case3
3 yrs.
F
Developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 45th %ile, length 50th %ile, OFC 15th %ile. Developmental milestones: developmental delay, speech delay. Epilepsy/seizures: seizures. Dysmorphic features: epicanthus, flat nasal bridge. Family history: mother with moderate intellectual disability.
Learning disabilities
14874998
16182258
1307261
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case30
11 yrs.
F
Developmental delay and learning disabilities
Birth/neonatal history: N/A. Developmental milestones: developmental delay, motor delay, speech delay. Additional medical history: deafness. Family history: mother's phenotype was not reported.
Learning disabilities
14958889
16214494
1255606
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
4 yrs.
M
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 50th %ile, OFC 35th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Brain imaging: delayed myelination. Family history: phenotypically normal mother.
Learning disabilities
14958889
16185426
1226538
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case32
9 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight 75th %ile, length 90th %ile, OFC 90th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders.
Learning disabilities
14954894
16182258
1227365
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case33
2 yrs.
M
Motor delay and macrocephaly
Birth/neonatal history: prenatal period marked by macrocephaly; birth weight 90th %ile, length 90th %ile, OFC > 97th %ile; neonatal hypotonia. Developmental milestones: motor delay. Brain imaging: delayed myelination. Visual evaluation: nystagmus.
15399189
16588223
1189035
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case34
16 yrs.
F
Developmental delay and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 35th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Visual evaluation: severe myopia. Dysmorphic features: almond-shaped palpebral fissures, long nose, widely spaced teeth. Family history: phenotypically normal mother.
Learning disabilities
14816348
16431432
1615085
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case35
1 yr.
F
Cardiac defects and dysmorphic features
Birth/neonatal history: prenatal period marked by truncus arteriosus; birth weight 25th %ile, length 5th %ile, OFC 25th %ile. Developmental milestones: no delays in development. Cardiac evaluation: aortic valve stenosis and regurgitation. Dysmorphic features: prominent forehead, downslanting palpebral fissures, anteverted nares, small mouth. Family history: mother's phenotype was not reported.
14874798
16198524
1323727
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case36
10 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: N/A. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Brain imaging: delayed myelination. Dysmorphic features: prominent forehead. Family history: mother's phenotype was not reported.
Learning disabilities
14954694
16182399
1227706
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
10 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight < 3rd %ile, length < 3rd %ile, OFC 10th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: club feet. Behavioral/psychiatric evaluation: ASD. Additional medical history: testicular ectopia, renal duplication. Dysmorphic features: delayed dental eruption. Family history: father's phenotype was not reported.
Learning disabilities
15037866
16431432
1393567
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case38
10 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 50th %ile, OFC 95th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: long fingers. Behavioral/psychiatric evaluation: ASD, sleep disorders. Additional medical history: cryptorchidism. Dysmorphic features: downslanting palpebral fissures, crumpled ears.
Learning disabilities
14850703
16211879
1361177
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case39
10 yrs.
M
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: prenatal period marked by fetal hypomobility; birth weight 50th %ile, length 20th, OFC 40th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Epilepsy/seizures: seizures. Additional medical history: inguinal hernia. Dysmorphic features: plagiocephaly, short palpebral fissures, hypertelorism. Family history: mother had motor delay in infancy and learning difficulties.
Learning disabilities
14816348
16198378
1382031
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case4
19 yrs.
F
Epilepsy/seizures
Birth/neonatal history: N/A. Developmental milestones: N/A. Epilepsy/seizures: seizures. Dysmorphic features: frontal hair upsweep, epicanthus, full eyelids, short palpebral fissures, short philtrum, long teeth. Family history: mother with moderate intellectual disability.
14874998
16182258
1307261
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case40
10 yrs.
M
ASD and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 35th %ile, OFC 70th %ile. Developmental milestones: no delays in development. Behavioral/psychiatric evaluation: ASD. Visual evaluation: myopia. Family history: father with learning difficulties and cardiac malformation.
Learning disabilities
14816348
16198378
1382031
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case41
3 yrs.
M
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 40th %ile, OFC 70th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Epilepsy/seizures: seizures. Dysmorphic features: flat face, hypertelorism, downslanting palpebral fissures, low-set ears. Family history: phenotypically normal father.
Learning disabilities
14609589
16322716
1713128
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case42
6 mos.
M
Epilepsy/seizures and cardiac defects
Birth/neonatal history: uneventful prenatal period; birth weight 10th %ile, length 50th %ile, OFC 50th %ile. Behavioral/psychiatric evaluation: sleep disorders. Epilepsy/seizures: seizures. Cardiac evaluation: aortic dilatation, left ventricular hypertrophy, moderate pulmonary valve stenosis. Family history: phenotypically normal father.
14816313
16211819
1395507
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case43
15 yrs.
F
ASD, developmental delay, and learning disabilities
Birth/neonatal history: N/A. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD.
Learning disabilities
15398450
16198378
799929
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case5
20 yrs.
F
Developmental delay and learning disabilities
Birth/neonatal history: N/A. Developmental milestones: developmental delay, speech delay.
Learning disabilities
14954894
16182258
1227365
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case6
3 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 80th %ile, length > 97th %ile, OFC 95th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD. Cardiac evaluation: bicuspid aortic valve.
Learning disabilities
14686278
16182258
1495981
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case7
6 yrs.
F
Developmental delay and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 80th %ile, length 75th %ile, OFC 90th %ile. Developmental milestones: developmental delay, speech delay. Visual evaluation: hypermetropia.
Learning disabilities
14954894
16182258
1227365
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case8
18 yrs.
M
Developmental delay
Birth/neonatal history: birth weight < 3rd %ile, length 50th %ile. Developmental milestones: developmental delay, speech delay. Brain imaging: sylvian aneurysm detected on brain MRI. Cardiac evaluation: pulmonary valve stenosis. Visual evaluation: bilateral optical neuropathy, strabismus, ptosis. Dysmorphic features: facial asymmetry. Additional medical history: ectopic testis. Family history: phenotypically normal father.
14954894
16182258
1227365
GRCh38
Duplication
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case9
3 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 60th %ile, length 50th %ile, OFC 10th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Dysmorphic features: epicanthus, short and marked philtrum, small mouth.
Learning disabilities
14874998
16198324
1323327
GRCh38
Duplication
Yes
bacchelli_20_ASD_discovery_cases-caseAB35
N/A
F
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
15399189
16207673
808485
GRCh38
Duplication
Yes
bartnik_12_EP_discovery_cases-case21
NA
F
Epilepsy
Age of onset of epilepsy: 9 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME). Parental phenotype: mother normal; father and brother have epilepsy.
Normal IQ
15823243
16198337
375095
GRCh38
Duplication
No
bartnik_12_EP_discovery_cases-case22
NA
F
Epilepsy
Age of onset of epilepsy: 16 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME). Parental phenotype: unknown.
Normal IQ
15424607
16214290
789684
GRCh38
Duplication
No
battaglia_13_DD/ID/ASD_discovery_cases-case35
3 yrs. 6 mos.
F
Autism and borderline DD/ID
Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes. Carries premutation allele at the FRAXA locus (61-62 triplets).
Borderline DD/ID
14954894
16155750
1200857
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case43
8 yrs. 7 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
14850703
16155750
1305048
GRCh38
Deletion
Yes
bitar_19_ASD_discovery_cases-case110
N/A
F
ASD
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: echolalia, hyperactivity, self-injurious behavior. Additional medical history: deafness. Family history: born to consanguineous parents (first degree cousins); history of hypertension on both sides of the family.
14954819
15022549
67731
GRCh38
Deletion
Yes
bitar_19_ASD_discovery_cases-case61
N/A
F
ASD
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: hyperactivity, echolalia, anxiety. Family history: born to consanguineous parents (first degree cousins); history of asthma on the maternal side of the family.
14954819
15022549
67731
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseMT_14.3
N/A
F
ASD
Case from REACH cohort
15362394
16275493
913100
GRCh38
Deletion
Yes
breuss_19_ASD_discovery_cases-caseF18_II-1
N/A
N/A
ASD
Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
15362394
16275493
913100
GRCh38
Deletion
Yes
chaudhry_14_ASD/DD/ID_discovery_cases-caseL1
10 yrs.
M
ASD, developmental delay, and ID
Psychiatric/behavioral disorders: ASD, mood swings, aggressive behaviors, impulsivity. Neurological features: hypotonic face, intention tremor. Dysmorphic features: prominent ears with simple and superior helices, deep set eyes, prominent upper central incisors, pointed chin, bilateral 5th finger clinodactyly. Growth abnormalities: relative microcephaly (head circumference 10th %ile).
Developmental/cognitive functioning: global developmental delay; mild intellectual disability (IQ 60-70).
15323173
16435944
1112772
GRCh38
Duplication
No
chen_21_ASD/DD/ID_discovery_cases-case38
NA
NA
Developmental delay/intellectual disability
Developmental delay/intellectual disability
Developmental delay/intellectual disability
15037718
16195017
1157300
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case100
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case101
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case102
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case103
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case104
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case105
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case106
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case107
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case108
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case109
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case110
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case111
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case112
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case113
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case114
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case115
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case116
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case117
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case118
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case119
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case120
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case121
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case122
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case123
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case124
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case125
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case126
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case127
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case128
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case129
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case130
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case131
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case132
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case133
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case134
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case135
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case136
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case137
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case138
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case139
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case140
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case141
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case142
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case143
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case144
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case145
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case146
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case147
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case148
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case149
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case150
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case151
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case152
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case153
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case154
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case155
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case156
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case157
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case158
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case159
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case160
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case161
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case162
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case163
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case164
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case165
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case166
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case167
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case168
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case169
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case170
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case171
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case172
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case173
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case174
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case175
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case176
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case177
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case178
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case179
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case180
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case181
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case182
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case183
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case184
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case185
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case186
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case187
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case188
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case189
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case190
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case191
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case192
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case193
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case194
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case195
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case196
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case197
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case198
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case199
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case200
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case201
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case98
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case99
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
curry_13_DD/ID/ASD_discovery_cases-patient17a1
4 mos.
M
ID
Presentation: failure-to-thrive, hiatal hernia. Developmental and neurological features: hypotonia. Brain imaging abnormalities: thin corpus callosum consistent with mild partial agenesis, ventriculomegaly, probable or mild cerebellar vermis hypoplasia, cerebellar tonsilar ectopia with Chiari 1 malformation, subtle basi-occipital changes. Rare phenotypes and other health problems: Marfanoid habitus, hiatal hernia, umbilical hernia, Morgagni hernia, ventricular septal defect, hemivertebrae, gastroesophageal reflux, GT, recurrent bilateral otitis media. Growth parameters: birth weight >90th %ile; weight 50th %ile, height 14th %ile, OFC 25th %ile. Ethnicity: Caucasian.
Mild ID
14955942
16194046
1238105
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300044
N/A
F
Developmental delay/intellectual disability
14850703
16211879
1361177
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300150
N/A
M
Developmental delay/intellectual disability
15037866
15060889
23024
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300521
N/A
F
Developmental delay/intellectual disability
14954894
16155750
1200857
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300533
N/A
F
Developmental delay/intellectual disability
CNV was inherited from a parent affected with a similar or milder phenotype
14954894
16182258
1227365
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300575
N/A
M
Developmental delay/intellectual disability
14954894
16211879
1256986
GRCh38
Duplication
Yes
du_21_ASD/DD/ID_discovery_cases-case31
4 yrs.
F
Developmental delay
Speech delay, low carnitine levels, language disorder
14875001
16198126
1323126
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14142_2400
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14829807
15154226
324420
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14142_2400
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15386022
16254748
868727
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14224_3580
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15351371
15525217
173847
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14283_4060
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14769675
16305955
1536281
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14380_4930
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16504220
16744832
240613
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14412_5210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14958889
16305955
1347067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20070_1331001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14807513
15933867
1126355
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20070_1331001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16126269
16161383
35115
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20070_1331001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16168715
16209531
40817
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20070_1331001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16000744
16068182
67439
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21015_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16526470
16707209
180740
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3310_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14769675
15368440
598766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3441_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14807513
16214494
1406982
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3613_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15022299
15079148
56850
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4182_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15386022
16198126
812105
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5074_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16490462
16707209
216748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5258_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15386022
16269382
883361
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5298_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16223780
16725420
501641
GRCh38
Duplication
No
fan_19_ASD_discovery_cases-caseASD443
8 yrs. 11 mos.
M
ASD
CARS score 28 (mild severity)
15355840
16200848
845009
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0032712
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
16154628
16165934
11307
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000009
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S13
N/A
15017383
15094128
76746
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260060
N/A
M
Developmental delay
Polydactyly (feet); Cerebellar hypoplasia; Feeding difficulties in infancy; Abnormality of the nervous system; Enlarged cisterna magna; Global developmental delay; Dandy-Walker malformation; Neonatal alloimmune thrombocytopenia; Abnormality of the penis; Abnormality of the tongue; Upslanted palpebral fissure; Epicanthus; Abnormality of the lip; Abnormality of the ear; Abnormality of the umbilicus; Abnormality of eye movement
15400847
16294603
893757
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260710
N/A
F
Microcephaly and dysmorphic features
Intrauterine growth retardation; Short stature; Clubbing; Feeding difficulties in infancy; IgA deficiency; Microcephaly
14711524
16467294
1755771
GRCh38
Duplication
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR913
20 yrs.
M
ASD, intellectual disability and epilepsy
Clinical features: moderate-to-severe intellectual disability, ASD, challenging behavior (history of aggressive episodes). Age of seizure onset: 10 months. Epilepsy syndrome: focal epilepsy. Seizure types: febrile seizures, focal dyscognitive seizures, evolution to bilateral or convulsive seizures. Family history: family history of childhood epilepsy in the case's mother and a maternal uncle (untested).
Moderate-to-severe intellectual disability
15418717
16168714
749998
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case0852
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0853
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0854
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0855
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0856
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0857
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0858
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0859
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0860
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0861
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0862
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0863
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0864
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0865
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0866
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0867
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0868
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0869
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0870
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0871
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0872
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0873
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0874
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0875
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0876
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0877
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0878
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0879
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0880
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0881
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0882
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0883
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0884
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0885
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0886
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0887
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0888
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0889
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0890
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0891
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0892
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0893
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0894
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0895
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0896
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0897
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0898
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0899
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0900
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0901
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0902
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0903
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0904
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0905
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0906
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0907
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0908
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0909
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0910
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0911
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0912
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0913
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0914
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0915
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0916
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0917
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0918
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0919
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0920
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0921
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0922
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0923
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0924
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0925
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0926
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0927
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0928
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0929
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0930
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0931
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0932
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0933
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0934
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0935
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0936
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0937
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0938
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0939
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0940
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0941
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0942
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0943
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0944
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0945
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0946
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0947
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0948
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0949
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0950
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0951
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0952
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0953
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0954
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0955
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0956
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0957
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0958
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0959
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0960
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0961
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0962
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0963
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0964
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0965
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0966
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0967
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0968
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0969
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0970
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0971
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0972
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0973
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0974
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0975
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0976
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0977
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0978
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0979
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0980
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0981
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0982
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0983
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0984
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0985
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0986
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0987
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0988
NA
NA
Developmental delay
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case14963
13 yrs.
M
Cardiac defects
Kyphosis. Congenital anomalies: 2 small ventricular septal defects and mild enlargement of aorta; bilateral Morgagni hernias; hiatal hernia; T12 hemivertebra. All other measures not specified.
NA
15408642
16198642
790001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case29386
1 yr.
M
Developmental delay
Family history: father had developmental delay and learning disability; mother has dyslexia and memory problems, but was cognitively normal. All other measure not specified.
Developmental delay
15408642
16198642
790001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case40354
14 yrs.
M
Intellectual disability
Decreased speech. Behavioral problems: stereotypies, usually quiet and shy but sometimes overly friendly, noise aversion. Normal tone. Normal MRI. Dysmorphic features: low anterior hairline, short philtrum, full lips, skin tags on neck, spots on tongue. Congenital anomalies: radioulnar synostosis; PIP finger camptodactyly. Growth parameters: small for gestational age; weight >95th %ile, height 10th-25th %ile, OFC +1.6 SD. Family history: healthy mother.
Moderate ID; developmental delay
15408642
16198642
790001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case44153
14 yrs.
F
Developmental delay
Behavioral problems: tantrums, self-pinching. Normal tone. Dysmorphic features: tall forehead, ptosis, downturned mouth, retrognathia, long neck. Congenital anomalies: mild scoliosis. Growth parameters: weight 50th-75th %ile, height >97th %ile, OFC unknown. Family history: half-brothers with learning disability or schizophrenia.
Mild developmental delay and learning disability
15408642
16198642
790001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case52716
2 yrs. 3 mos.
F
Developmental delay
Dysmorphic features, speech delay, small stature. Normal tone. Dysmorphic features: low-set ears, short neck, small nose, upslanting palpebral fissures, shallow nasal bridge, small mouth, micrognathia. Congenital anomalies: blocked lacrimal ducts. Other features: strabismus, chronic lung disease (prematurity). Growth parameters: height, weight, and OFC <3rd %ile. Family history: mother has bicornate uterus.
Global developmental delay
15408642
16198642
790001
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case68390
NA
NA
ADHD and epilepsy
ADHD, seizures, mild dysmorphic features
NA
15408642
16198642
790001
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11450.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15073641
16723642
1650002
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11511.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15073641
16723642
1650002
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12861.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15073641
16723642
1650002
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13215.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15474885
15514516
39632
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13534.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15073641
16723642
1650002
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14165.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15073641
16723642
1650002
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14169.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15073641
16723642
1650002
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1039302
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15073641
16723642
1650002
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-32809111709
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
15033306
15090785
57480
GRCh38
Deletion
No
granata_22_ASD/DD/ID_discovery_cases-case1
12 yrs.
M
Birth/neonatal history: born at term without neonatal or prenatal distress with birth weight 3.70 kg, length 52 cm, and head circumference 35 cm and APGAR scores of 9 and 10. Developmental milestones: normal development, normal achievement of developmental milestones. Language and communication evaluation: dysgraphia. Motor and musculoskeletal evaluation: difficulties with fine motor skills, hypotonia, scoliosis, winged shoulder blades. Behavioral/psychiatric evaluation: impulsivity, anxiety. Epilepsy/seizures: none. Additional medical history: minimal atrioventricular valve insufficiency. Dysmorphic features: low-set auricles, slow down eyelid rim, ogival palate, dental malocclusion, lower thick and downslanted lip, epicanthus, unilateral cryptorchidism. Growth parameters: growth deficiency at 8 years, thinness at 12 years.
Low IQ (WISC-IV IQ 86); spatial visualization difficulties, difficulties with reading and understanding, dyscalculia, spelling skills <5th %ile, mathematical difficulties, memory deficit.
14954874
16306976
1352103
GRCh38
Deletion
No
granata_22_ASD/DD/ID_discovery_cases-case4
5 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: born at 42 weeks gestation with birth weight 3.66 kg, length 55 cm, and head circumference 36 cm and APGAR scores of 9 and 10. Developmental milestones: normal psychomotor development; severe global developmental and language delay noted at 5 years. Behavioral/psychiatric evaluation: diagnosis of non-syndromic autism spectrum disorder, stereotypies. Epilepsy/seizures: none. EEG: normal. Dysmorphic features: none.
Borderline intellectual disability (WISC-IV IQ 80).
14875020
16217184
1342165
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case19D0262
12 mos. 28 days
M
Developmental delay
Congenital heart defect
14806214
16234983
1428770
GRCh38
Duplication
No
hnoonual_17_ASD_discovery_cases-caseTM50-3
N/A
M
ASD
No additional clinical features
15036113
16539504
1503392
GRCh38
Duplication
No
husson_20_ASD_discovery_cases-case106
11 yrs.
F
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
14875036
16173404
1298369
GRCh38
Duplication
Yes
husson_20_ASD_discovery_cases-case225
5 yrs.
F
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
14875036
16173404
1298369
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000203
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14874998
16034020
1159023
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15457445
16100721
643277
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000799
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14954894
16100721
1145828
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000864
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16431491
1615144
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000882
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14874998
16100721
1225724
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000971
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16100721
1284374
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001106
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14874998
16100721
1225724
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001137
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14874998
16100721
1225724
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001152
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15457445
16100721
643277
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001216
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14954894
16100721
1145828
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001839
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14717194
16450842
1733649
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001898
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14717194
16508540
1791347
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001945
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14907656
16206199
1298544
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002009
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14907656
16281234
1373579
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002172
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15187330
16281234
1093905
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002233
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14823949
16281234
1457286
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002327
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14823949
16281234
1457286
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002470
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14823949
16281234
1457286
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002536
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16431491
1615144
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002729
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16148900
1332553
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003818
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14850703
16211879
1361177
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003854
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14874998
16100721
1225724
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003908
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16431491
1615144
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003909
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816148
16100862
1284715
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003985
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16633564
1817217
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004046
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816148
16431632
1615485
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
15055158
238811
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15457445
16100721
643277
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004377
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14954894
16100721
1145828
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004421
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15434653
16281234
846582
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004474
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16580464
1764117
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004504
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14954894
16100721
1145828
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004582
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14874798
16100862
1226065
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004591
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16100721
1284374
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004608
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14954694
16100862
1146169
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004815
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16100721
1284374
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004955
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14874998
16100721
1225724
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005031
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816148
16431632
1615485
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005156
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14816348
16431491
1615144
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005409
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15457445
16100721
643277
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13125.p1
N/A
M
ASD
ASD proband from SSC quad family 13125. SRS score of 86.
Full-scale IQ (FSIQ) score of 97.
15031734
15041676
9943
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13215.p1
N/A
M
ASD
ASD proband from SSC quad family 13215. SRS score of 90.
Full-scale IQ (FSIQ) score of 74.
15502321
15515428
13108
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11450.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14833851
16287862
1454012
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11511.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15407823
16287862
880040
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11918.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15884007
15888585
4579
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12261.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15879803
15888585
8783
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12602.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
16124788
16232831
108044
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12622.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
16154872
16165933
11062
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12944.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15028877
16192922
1164046
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13125.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15031734
15041676
9943
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13721.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
16154627
16165933
11307
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14165.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14833851
16293744
1459894
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14449.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15407823
15519525
111703
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0509
46 yrs.
M
ASD
Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: tic disorders (motor and vocal tics). Family history: positive for stuttering.
IQ > 70
15375457
16198187
822731
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0240
39 yrs.
M
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include delusions (grandiose type)), social withdrawal, trichotillomania, aggressive behavior, mood symptoms. Family history: positive for schizophrenia (SCZ).
Intellectual disability (IQ < 70)
15328439
16443962
1115524
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0673
22 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
15318125
16294378
976254
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0714
40 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include visual and auditory hallucinations, somatic delusions). Physical comorbidities: breast cancer. Congenital and developmental phenotypes: congenital dislocation of the hip joint. Family history: positive.
IQ > 70
15030738
16517711
1486974
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2392
19 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
15029830
16415941
1386112
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2500
42 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
14780667
16415941
1635275
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0509
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
15030737
16198187
1167451
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD0755
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
15029829
16193427
1163599
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1672
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
15029829
16415941
1386113
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1901
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
15029829
16193427
1163599
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD2035
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
15029829
16415941
1386113
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0240
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
15328438
16443962
1115525
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0673
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
15318124
16294378
976255
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0714
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
15030737
16517711
1486975
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2392
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
15029829
16415941
1386113
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2500
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
14780666
16415941
1635276
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3060
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
14957418
16415941
1458524
GRCh38
Duplication
Yes
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
16153614
16167394
13781
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU011404
N/A
M
ASD
15386143
16196143
810001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU060703
N/A
M
ASD
15386143
16196143
810001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU079103
N/A
M
ASD
15386143
18173143
2787001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU079104
N/A
M
ASD
15386143
18173143
2787001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1039302
N/A
F
ASD
15031143
16196143
1165001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1039303
N/A
M
ASD
15031143
16196143
1165001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1194302
N/A
M
ASD
15031143
16536143
1505001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU2313303
N/A
M
ASD
15033143
16198143
1165001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU3128302
N/A
M
ASD
14804143
16198143
1394001
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11450.p1
NA
M
ASD
NA
NA
14774022
15064007
289986
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11450.p1
NA
M
ASD
NA
NA
15310519
16305809
995291
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11511.p1
NA
M
ASD
NA
NA
15489502
16289821
800320
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband4
5 yrs.
M
Epilepsy
Proband examined at age of five years for seizures of unknown type or duration; individual lost to follow-up; no detailed clinical information obtained; family samples not available for testing.
N/A
16100662
16678513
577852
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case165
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
14881434
16269382
1387949
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case184
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
15036082
16169806
1133725
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case223
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
15038104
16198126
1160023
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case12
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 23 years of age; case also presented with major depression and bulimia nervosa.
14881434
16221037
1339604
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case3
NA
F
Chronic tic disorder
Case diagnosed with chronic tic disorder (CTD) at 15 years of age.
15006541
16198271
1191731
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown53
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)
14954894
16129195
1174302
GRCh38
Deletion
No
mak_17_ASD_discovery_cases-case7
23 mos.
M
ASD
ASD
15031901
16194046
1162146
GRCh38
Duplication
No
mak_17_ASD_discovery_cases-case8
17 yrs.
M
ASD, developmental delay, and epilepsy
Epilepsy, global developmental delay, ASD
15031901
16194046
1162146
GRCh38
Duplication
No
martucci_23_ASD_discovery_cases-case1
M
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: severe. Language and communication evaluation: verbal. EEG: negative. Family history: negative.
DQ/IQ score 140.
15388063
16422252
1034190
GRCh38
Duplication
Yes
miyake_23_ASD_discovery_cases-case9445
NA
M
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
15719103
16134591
415489
GRCh38
Deletion
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8290_1
N/A
N/A
Schizophrenia
N/A
N/A
14978918
16283793
1304876
GRCh38
Duplication
Yes
munnich_19_ASD_discovery_cases-case30
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
14954894
16182258
1227365
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-261058
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
15398460
18018919
2620460
GRCh38
Deletion
N/A
oikonomakis_16_ASD_discovery_cases-case578
12 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, hyperactivity, long philtrum, thin upper lip
14954894
15402595
447702
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5258_3
NA
M
Autism
Language delay, hx of torJcollis and hydrocele, no epilepsy, brain CT normal
Average IQ
15386022
16269382
883361
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case14412_5210
9 yrs. 2 mos.
M
ASD
Autism on ADI-R and ADOS, no language delay, verbal, no dysmorphic features or other anomalies, neurological exam normal except for clumsiness, normal growth, no epilepsy. Family history: both parents unaffected, negative family history.
Average IQ (WISC-III at 9 y 2 mo: VIQ 101, PIQ 108, FSIQ 104)
14958889
16305955
1347067
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case20070_1331001
N/A
M
ASD
Autism on ADI-R and ADOS, no language delay, self-injurious behavior, normal head circumference. Family history: mother with adult SRS total 31, normal head circumference.
Normal IQ (Differential Abilities Scale at 8 y 6 mo: VIQ 118, PIQ 95, FSIQ 104)
14807513
15933867
1126355
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case3441_3
N/A
M
ASD
Highfunctioning autism, minor dysmorphic features, no epilepsy. Family history: healthy father.
Low-average IQ (WISC VIQ 82, PIQ 98, FSIQ 89)
14807513
16214494
1406982
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4182_1
2 yrs.
M
ASD
Autism (based on medical history and ADI-R), verbal with history of language regression and delay, no dysmorphic features, asthma. Family history: identical twin also has ASD; mother with hypothyroidism, vision loss, possible multiple sclerosis, and trisomy X (retroverted uterus, menopause at age 43); father has features of ASD, irritability and aggression.
Borderline ID (Vineland Adaptive Behavior Composite score 70 at 2 y)
15386022
16198126
812105
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case9766_202
8 yrs.
M
ASD
Autism (autism on ADI-R and ADOS), no language delay, functional language, normal height and weight, head circumference -2.5 SD, no dysmorphic features, normal physical exam, no epilepsy. Family history: no siblings; mother with migraine, father with asthma, otherwise both are healthy; paternal first degree cousin with possible Asperger syndrome, mother's uncle with possible schizophrenia.
No ID (WISC-R at age 8 y: VIQ 105, PIQ 85, FSIQ 94)
15031584
16198126
1166543
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case03HI2407A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0875302; NDAR ID NDAR_INVHG892YGK)
16157661
16165935
8275
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case03HI2580A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
16157661
16165935
8275
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2755A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1172301; NDAR ID NDAR_INVKH996HE1)
16236899
16274077
37179
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2879A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1039302; NDAR ID NDAR_INVCT450YAQ)
14838405
16208861
1370457
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3916A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1322301; NDAR ID NDAR_INVFJ633RLY)
15031733
15094235
62503
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4694A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1194303; NDAR ID NDAR_INVKM011JX5)
14838405
16274077
1435673
GRCh38
Duplication
No
ramalingam_11_16p13.11_discovery_cases-case1
NA
ASD
Hypoplastic left heart syndrome. Mother with CNV has cognitive delay and congenital heart defect.
NA
14878642
16428642
1550001
GRCh38
Duplication
Yes
ramalingam_11_16p13.11_discovery_cases-case10
NA
ASD
Microcephaly, epilepsy, static encephalopahty, aggressive behavior
Global developmental delay
14818642
16198642
1380001
GRCh38
Deletion
Yes
ramalingam_11_16p13.11_discovery_cases-case11
NA
ASD
Strabismus
Severe cognitive disability
14958642
16198642
1240001
GRCh38
Deletion
Yes
ramalingam_11_16p13.11_discovery_cases-case12
NA
Epilepsy
Hypotonia. Father with CNV has history of seizure, cognitive & speech delay, macrocephaly, tall stature, & dysmorphic features. Mother has epilepsy, sleep apnea, and developmental delay.
Global developmental delay, particularly in language & cognition
15398642
16198642
800001
GRCh38
Deletion
Yes
ramalingam_11_16p13.11_discovery_cases-case2
NA
Developmental delay
Microcephaly, congenital heart defect, femoral hypoplasia, vertebral anomalies with scoliosis
Developmental delay
14958642
16218642
1260001
GRCh38
Duplication
Yes
ramalingam_11_16p13.11_discovery_cases-case3
NA
Epilepsy
Generalized epilepsy
NA
15018642
16428642
1410001
GRCh38
Duplication
Yes
ramalingam_11_16p13.11_discovery_cases-case4
NA
ASD
ADHD, anxiety disorder
NA
15028642
16198642
1170001
GRCh38
Duplication
Yes
ramalingam_11_16p13.11_discovery_cases-case5
NA
ASD
ADHD, abnormal brain MRI
NA
15028642
16428642
1400001
GRCh38
Duplication
Yes
ramalingam_11_16p13.11_discovery_cases-case6
NA
Developmental delay
Global developmental delay, failure to thrive, no septum pellucidum and delayed sulcation, severe dysmorphism (upslanting eyes, flat nasal bridge, retrognathia), multiple congenital anomalies (heart, kidney, bone). Mother with CNV has diabetes & mild dysmorphism.
Global developmental delay
15398642
16198642
800001
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case24008
NA
NA
ASD
NA
NA
15446641
15843228
396587
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes. Patient also carried a maternally-inherited nonsense variant in the NDE1 gene.
Developmental delay: yes. Intellectual disability: yes.
15031584
15074903
43320
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes. Patient also carried a maternally-inherited nonsense variant in the NDE1 gene.
Developmental delay: yes. Intellectual disability: yes.
15368440
16194188
825749
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
15031584
15087670
56087
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
15386022
16223780
837759
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
15222634
15368440
145807
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
16257660
16662781
405122
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
15882156
15924732
42577
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
15882156
15924732
42577
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
15445470
15451165
5696
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11235.p1
6.8
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
15977992
15983503
5512
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
14807513
15222634
415122
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
15309854
16305955
996102
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11511.p1
10.6
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
15351371
16369393
1018023
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
15882891
15924732
41842
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
15950018
15954730
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
15882891
15911711
28821
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
15985260
15991694
6435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
15985260
15991694
6435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
15882891
15924732
41842
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12602.p1
9.8
M
Aspergers
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
16126833
16223780
96948
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12622.p1
15.1
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
16153614
16167394
13781
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
15036871
15075295
38425
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
15562347
15570260
7914
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
15033545
15099845
66301
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
15230693
16198126
967434
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
15882891
15924732
41842
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
15562347
15570260
7914
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case23
5 yrs.
F
ASD
ASD
14816348
16100721
1284374
GRCh38
Duplication
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
14956177
14988855
32678
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
14956177
14988855
32678
Unknown
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case13
2 yrs.
M
Developmental delay
Developmental delay, abnormality of the skin, pectus carinatum
15356432
16403549
1047118
GRCh38
Duplication
No
siu_16_ASD_discovery_cases-patient1
Adult (22-33 yrs.)
M
ASD
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. No additional clinical features reported.
IQ of 82 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
15031901
16194046
1162146
GRCh38
Duplication
No
siu_16_ASD_discovery_cases-patient4
Adult (22-33 yrs.)
M
ASD
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. No additional clinical features reported.
IQ of 90 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
15031901
16194046
1162146
GRCh38
Duplication
No
siu_16_ASD_discovery_cases-patient5
Adult (22-33 yrs.)
M
ASD
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. Additional clinical features: left frontal hemangioma, epilepsy.
IQ of 96 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
15031901
16194046
1162146
GRCh38
Duplication
No
siu_16_ASD_discovery_cases-patient8
Pediatric (2-15 yrs.)
F
ASD and developmental delay
Diagnosis of ASD confirmed using ADI-R. Additional clinical features: developmental delay.
IQ N/A
15031901
16194046
1162146
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_cases-case1
10 yrs.
M
ASD
ASD, learning difficulties
Learning difficulties
15037866
15060889
23024
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case10
44 yrs.
F
Learning difficulties
Some dysmorphic features
Arithmetic difficulties, learning difficulties, reading and spelling difficulties
14850703
16211879
1361177
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case11
2 yrs.
F
Developmental delay
Ectopic kidney, microcephaly, renal failure, small for age, urinary tract infection
Developmental delay
14850703
16211879
1361177
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case12
23 yrs.
F
ADHD
ADHD
14850703
16211879
1361177
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case13
8 mos.
M
Developmental delay
Flat nasal bridge, gray matter heterotopia, IUGR, polymicrogyria, prominent forehead
Developmental delay
14850703
16217213
1366511
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case14
N/A
M
Unknown
Unknown
Unknown
14850703
16217213
1366511
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case15
3 yrs.
M
Developmental delay
Global developmental delay, plagiocephaly, small stature and growth in <0.4th %ile.
Global developmental delay, functioning at 24-30 months at age of 42 months
14850703
16217213
1366511
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case16
3 yrs.
M
Developmental delay
Global developmental delay, speech delay
Global developmental delay
14954894
16182258
1227365
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case17
N/A
F
Unknown
Unknown
Unknown
15037866
16182258
1144393
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case18
13 yrs.
M
Learning difficulties
Facial asymmetry, learning difficulties, muscular aches, possibly myopathic, scoliosis, selective mutism
Learning difficulties
15037866
16217213
1179348
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case19
6 yrs.
M
Learning difficulties and behavioral abnormalities
Inattentive with immature behavior, language understanding issues, poor learning pattern, small child
14850703
16182258
1331556
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case2
5 yrs.
M
Developmental delay
Attention difficulties, delayed speech and language skills, dysmorphic features
15037866
15060889
23024
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case20
27 yrs.
M
Epilepsy
Epilepsy, possible ADHD
Learning difficulties
14850703
16182258
1331556
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case21
15 yrs.
M
Epilepsy
Early onset unusual epilepsy, resistant to treatment
Some learning difficulties
14850703
16211879
1361177
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case22
2 yrs.
M
Developmental delay
Very small stature (<0.4th %ile on all measurements)
Global developmental delay
14850703
16211879
1361177
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case23
1 yr.
F
Developmental delay
Bilateral duplication of the hallux, digital abnormalities (e.g. syndactyly, polydactyly), facial dysmorphism (e.g. hypertelorism), mild delay, umbilical hernia
Delayed (atypical) cognitive development
14850703
16211879
1361177
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case24
12 yrs.
M
Learning difficulties and behavioral abnormalities
Social and communication disorder, behavioral difficulties
Learning difficulties
14954894
16182258
1227365
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case25
N/A
F
Unknown
Unknown
Unknown
14954894
16211879
1256986
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case26
10 mos.
M
Developmental delay
Fine motor delay, motor developmental delay, spinal muscular atrophy
Developmental delay
15037866
16155750
1117885
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case27
5 yrs.
M
ASD
Autism, very challenging behavior
15050263
16182258
1131996
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case30
2 mos.
M
Neurological abnormalities
Hypoglycemia and poor condition at delivery, poor tone and abnormal neurology at 2 months
15402981
16217213
814233
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case4
4 yrs.
M
ASD
ASD, ventricular septal defect
14850703
16129195
1278493
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case5
N/A
M
Unknown
Unknown
Unknown
14850703
16155750
1305048
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case6
3 yrs.
F
Developmental delay
Delayed gross motor skills, motor planning problem, social communication difficulty
14850703
16182258
1331556
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case7
5 yrs.
M
Developmental delay
Developmental delay, absent teeth, bilateral low set ears, chest asymmetry, dysmorphic features, facial asymmetry, GERD, hearing loss, inguinal hearnia, inverted left nipple, IUGR/growth retardation, lack of hair, metabolic bone disease, plagiocephaly, pseudohydrocephalus, triangular face, undescended testes
14850703
16211879
1361177
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case8
2 yrs.
M
Developmental delay
Global developmental delay
Global developmental delay
14850703
16211879
1361177
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case9
48 yrs.
M
Learning difficulties
Dilated cardiomyopathy, learning difficulties, speech problems
Learning difficulties
14850703
16211879
1361177
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case85
4- 10 years
M
ASD, ADHD, and developmental delay
Developmental delay, Asperger's syndrome, ADHD. Family history: Father has ADHD and history of violence; Paternal half-sister has language delay; Grandmother (paternal) had fibromyalgia.
14850702
16155750
1305049
GRCh38
Duplication
No
tuncay_23_ASD_discovery_cases-caseMCD-015-1
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
16235201
16269703
34503
GRCh38
Deletion
No
tuncay_23_ASD_discovery_cases-caseMCD-030-3
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
16236109
16270100
33992
GRCh38
Deletion
No
ullmann_07_ASD_discovery_cases-patientA-III-1
NA
M
Autism
Behavioral characteristics: hyperactivity, destructive & aggressive behavior. Normal physical appearance. Growth parameters: head circumference, 58 cm (90-97th %ile). Family history: younger brother (patient III-2 in pedigree) diagnosed with autism (also carries 16p13.1 duplication); sister (patient III-3 in pedigree) with low IQ (IQ of 54) and learning problems (carries 16p13.1 duplication); mother with IQ of 72, delayed speech development, learning problems, and OCD.
14888642
16388642
1500001
GRCh38
Duplication
Yes
ullmann_07_ASD_discovery_cases-patientB-III-2
3.5 yrs.
M
Autism
Developmental milestones: at 9 months, proband started to walk, but had no speech. Behavioral characteristics: hyperactivity, aggressive and disruptive behavior, hand flapping, and lack of functional play noted at 9 months. Normal physical appearance. Growth parameters: head circumference, 51 cm (60th %ile). Family history: older brother with delayed speech development but no features of autism (does not carry 16p13.1 duplication); duplication also found in healthy mother, healthy aunt, healthy uncle, and maternal grandfather with borderline symptoms of autism (based on self-administered questionnaire).
14888642
16388642
1500001
GRCh38
Duplication
Yes
ullmann_07_ASD_replication_cases-patientC-II-1
18 yrs.
M
Autism
Developmental milestones: normal motor development; delayed speech with prominent early echolalia. Behavioral characteristics: aloofness, social anxiety, misinterpretation of the behavior of others, narrow preoccupations. Attending a work & living skills program, has a part-time job. Growth parameters: head circumference, 59.5 cm.
14888642
16388642
1500001
GRCh38
Duplication
Yes
ullmann_07_MR_discovery_cases-patientD-II-1
4 yrs.
M
Mental retardation
Birth & neonatal history: delivered by C-section at 36 weeks due to polyhydramnios; mechanical ventiliation needed due to pulmonary hypertension; hypertrophic cardiomyopathy diagnosed that did not require further intervention. Developmental milestones: retarded psychomotor and language development. Behavioral characteristics: development of autistic traits that became less apparent when demands were lowered to match intelligence. Dysmorphic features: frontal bossing, low-set ears with prominent antihelix, broad nasal bridge, thin upper lip with cupid's bow shape. Brain MRI: no gross anatomical changes. Growth parameters: normal growth (75th %ile); head circumference, 52 cm (97th %ile). Family history: father with learning disabilities.
Mental retardation
14888642
16388642
1500001
GRCh38
Deletion
Yes
ullmann_07_MR_discovery_cases-patientE-II-1
19 yrs.
F
Mental retardation
Developmental milestones: delayed development (age equivalence at 10 yrs to that of a 6-yr old child); problems socializing. Psychomotor retardation. Echolalia. Slightly dysmorphic appearance (down-slanting palprebral fissures, epicanthic folds, ptosis, small hands & feet). Brain CT: no gross anatomical changes. Growth parameters: short stature (height of 153.5 cm/<3rd %ile) and obese (weight 72 kg, weight-for-height >97th %ile).
Mental retardation
14888642
16388642
1500001
GRCh38
Deletion
Yes
ullmann_07_MR_replication_cases-patientF-II-2
12 yrs.
M
Mental retardation
Developmental milestones: delayed motor milestones (holding up head, sitting up without support, and walking); able to speak only ioslated words. Behavioral characteristics: affectionate & kind, no antisocial or aggressive behavior. Dysmorphic features: narrow frontal bone, frontal hirsutism, synophris, small low-set and prominent ears, bulbous nose, thin upper lip, protruding lower lip, high palate, dental malocclusion, prognathism. Severe visual impairment (surgically repaired congenital cataracts, now suffers from convergent strabismus & circular nystagmus). Hypotonia and joint hyperextensibility. Family history: maternal grandmother reported to be mentally retarded; all other family members clinically normal (mother has similar facial appearance but no mental retardation).
Mental retardation
14888642
16388642
1500001
GRCh38
Deletion
Yes
verberne_22_ASD/DD/ID_discovery_cases-case433
NA
M
Developmental delay
Developmental delay, hypotonia, peripheral pulmonary stenosis, microcephaly, facial dysmorphism
14964962
16236815
1271854
GRCh38
Duplication
No
wang_10_ASD_discovery_cases-AC0003
31
M
ASD
NA
NA
15031584
16195675
1164092
GRCh38
Duplication
No
werling_19_ASD_discovery_cases-caseA044
10 yrs.
M
ASD and OCD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.5); diagnosis confirmed using either ADOS or ADI-R (ADOS score 6; ADI-R A/B/C/D scores 12/12/6/3). Behavioral/psychiatric evaluation: obsessive-compulsive disorder. Additional medical history: congenital hypothyroidism.
IQ score 87 (SON-R)
14805420
16400926
1595507
GRCh38
Duplication
No
werling_19_ASD_discovery_cases-caseA092
10 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.5); diagnosis confirmed using either ADOS or ADI-R (ADOS score 6). Behavioral/psychiatric evaluation: symptoms of ADHD.
IQ score 124 (SON-R)
14833499
16234924
1401426
GRCh38
Duplication
No
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient7
6
M
Autism
Autism
Intellectual disability (ID)
15032852
16192866
1160015
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327130
45 yrs.
F
Intellectual disability
Psychiatric history: challenging behavior. Mini PAS-ADD evaluation: not available. BPI-S evaluation: not available. Medical history: hypertension, type II diabetes, constipation, asthma, obesity. Dysmorphic features: abnormal facial shape, microtia. Growth parameters: height 147 cm, head circumference 54 cm. Ethnicity: white (British).
Moderate intellectual disability
14798358
16522569
1724212
GRCh38
Duplication
Yes
xu_16_ASD/DD/ID_discovery_cases-case11
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores. Note: CNV coordinates in this report given as RP11-489O1.
N/A
N/A
200000
NCBI36
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case12
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
14805862
16414447
1608586
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case496
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
16196385
16236621
40237
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0993-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
14795144
16609143
1814000
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-1359-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: sleep disorder; earing loss left ear, tympanic rupture, ear infections; allago hydramneous; febrile seizure age 2
14954143
16568143
1614001
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-1359-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD; anxiety; sleep disorder; depression
14954143
16568143
1614001
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-1525-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Learning Disorder; allergies;
15030144
16373643
1343500
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1721-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD; anxiety
14762144
16326143
1564000
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case7-0024-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Anxiety; degenerative tremor; Nonverbal learning disability; developmental coordination disorder
14954143
16560143
1606001
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case7-0024-005
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Anxiety; epilepsy; Ventricular Septal Defect (VSD)?; apraxia
14954143
16560143
1606001
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case7-0105-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD
14762144
16654143
1892000
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case7-0123-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
14893144
16325143
1432000
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case7-0185-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Seizures suspected, Tourette's
14796144
16318143
1522000
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-caseAU060703
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
14798144
16272343
1474200
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU079104
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: skin abnormality - bumps on arms; Small erosive gab in teeth between the two front; OCD and ADHD symptoms
14942144
16390643
1448500
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU3124304
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
14762144
16469143
1707000
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3124311
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
14796144
16453143
1657000
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU4054301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
14796144
16370143
1574000
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0687-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
15388064
16297188
909125
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case12-8115-001
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
14772427
16435944
1663518
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case153030
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): learning disorder
14816541
16426114
1609574
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case157177
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
14819605
16422252
1602648
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case164265
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Encorporesis
14803769
16419977
1616209
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1359-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
14812878
16365260
1552383
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1359-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
14960489
16404227
1443739
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1525-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
14799024
16294739
1495716
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case200767
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
14812878
16225773
1412896
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0111-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
14803769
16234104
1430336
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0185-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
14802529
16234983
1432455
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0284-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
14808411
16419768
1611358
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD31-S_896573
N/A
M
OCD
Primary diagnosis: OCD. Additional phenotype(s): no additional phenotypes reported
15329847
16112992
783146
GRCh38
Duplication
Yes
zhang_23_ASD/DD/ID_discovery_cases-caseASD0144
2 yrs.
M
ASD, developmental delay, and intellectual disability
Case clincially diagnosed with ASD according to DSM-V criteria. Additional clinical features: language delay, attention deficit, feeding difficulties. Family history: CNV inherited from normal parent.
Intellectual disability, learning disabilities, cognitive disorders
14807841
16398456
1590616
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control20015
N/A
F
Control
Control
14881435
16207673
1326239
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control10
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control11
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control12
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control13
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control14
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control15
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control16
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control17
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control18
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control19
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control20
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control21
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control22
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control23
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control24
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control25
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control26
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control27
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control28
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control29
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control3
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control30
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control31
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control32
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control33
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control34
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control35
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control36
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control4
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control5
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control6
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control7
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control8
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control9
N/A
N/A
Control
N/A
N/A
15408642
16198642
790001
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB343432_1007844537
N/A
N/A
Control
No previous psychiatric history
15035602
15197384
161783
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB357724_1007844568
N/A
N/A
Control
No previous psychiatric history
14958889
15222634
263746
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB399063_0067942624
N/A
N/A
Control
No previous psychiatric history
16490462
16725420
234959
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
N/A
N/A
Control
No previous psychiatric history
15882156
15924732
42577
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
N/A
N/A
Control
No previous psychiatric history
16202631
16725420
522790
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900235_900235
N/A
N/A
Control
No previous psychiatric history
16152307
16185426
33120
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900367_900367
N/A
N/A
Control
No previous psychiatric history
16526470
16735679
209210
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
N/A
N/A
Control
No previous psychiatric history
15882156
15924732
42577
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901197_901197
N/A
N/A
Control
No previous psychiatric history
14881435
16198126
1316692
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902579_902579
N/A
N/A
Control
No previous psychiatric history
15882891
15924732
41842
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902864_902864
N/A
N/A
Control
No previous psychiatric history
14976010
16189214
1213205
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902959_900544
N/A
N/A
Control
No previous psychiatric history
15031584
15227041
195458
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_309
NA
NA
Control
NA
NA
14918813
15129771
210959
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_controls-control78
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control79
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control80
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control81
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control82
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control83
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control84
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control85
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control86
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control87
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control88
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control89
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control90
NA
NA
Control
NA
NA
15408642
16198642
790001
GRCh38
Duplication
NA
girirajan_13a_ASD_discovery_controls3-control10
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control11
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control12
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control13
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control14
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control15
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control16
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control17
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control18
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control6
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control7
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control8
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control9
N/A
N/A
Control
N/A
N/A
15073641
16723642
1650002
GRCh38
Unknown
No
itsara_10_ASD_discovery_controls_2-11020
NA
NA
Asthma
NA
NA
15386022
16195675
809654
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_controls-control0016
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0017
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0018
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0019
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0020
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0021
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0022
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0023
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0024
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0025
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0026
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0027
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0028
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0029
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0030
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0031
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0032
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0033
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0034
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0035
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0036
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0037
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0038
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
15410597
16198411
787815
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12652.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12652. SRS score of 45.
15031734
15074861
43128
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13125.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13125. SRS score of 58.
15032860
15041676
8817
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13689.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13689. SRS score of 50.
16052723
16182588
129866
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11731.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15031734
15041676
9943
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12622.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
16157662
16165933
8272
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13125.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15032860
15041676
8817
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13721.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
16154627
16165933
11307
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14449.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15434653
15519525
84873
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0290
30 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
15375457
16416599
1041143
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1016
24 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
15029830
16193427
1163598
GRCh38
Duplication
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1175
39 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
15029830
16415941
1386112
GRCh38
Duplication
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1681
21 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
15029830
16415941
1386112
GRCh38
Duplication
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0290
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
15375456
16416599
1041144
GRCh38
Deletion
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1016
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
15029829
16193427
1163599
GRCh38
Duplication
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1175
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
15029829
16415941
1386113
GRCh38
Duplication
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1681
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
15029829
16415941
1386113
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU012203
N/A
F
Control
Unaffected sibling
15031143
16196143
1165001
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU3128301
N/A
M
Control
Unaffected sibling
14804143
16198143
1394001
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11545.s1
NA
M
Control
NA
NA
15396831
16428557
1031727
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12020.s1
NA
M
Control
NA
NA
15391474
16195084
803611
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12020.s2
NA
M
Control
NA
NA
15396831
16195084
798254
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12372.s1
NA
F
Control
NA
NA
15418530
16199293
780764
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C35546A
N/A
F
Control
NIMH Control (NIMH ID 59863)
14838405
16255827
1417423
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control12
N/A
N/A
Control
Control
14706143
16306143
1600001
GRCh38
Deletion
No
reinthaler_14_EP_discovery_controls-control13
N/A
N/A
Control
Control
14706143
16306143
1600001
GRCh38
Deletion
No
reinthaler_14_EP_discovery_controls-control14
N/A
N/A
Control
Control
14706143
16306143
1600001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
16633447
16692149
58703
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
16126833
16198126
71294
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
15386022
16111644
725623
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
16680688
16696413
15726
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
15322608
16223780
901173
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
15560474
15583240
22767
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12347.s1
7.3
F
Control (matched sibling)
NA
NA
15386022
16274040
888019
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
15270490
16198126
927637
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
15562347
15570260
7914
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12469.s1
8.7
F
Control (matched sibling)
NA
NA
16152307
16167394
15088
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
14958889
15099845
140957
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
15882891
15919023
36133
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
15562347
15571241
8895
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_controls-control-Cooper_1
N/A
F
Control
N/A
N/A
14730337
16230924
1500588
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_controls-control-Shaikh_1
N/A
F
Control
N/A
N/A
14939085
16447216
1508132
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-Shaikh_2
N/A
M
Control
N/A
N/A
14943584
16103176
1159593
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_1
N/A
F
Control
N/A
N/A
14939085
16006804
1067720
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_2
N/A
F
Control
N/A
N/A
14939085
16096715
1157631
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_3
N/A
F
Control
N/A
N/A
15031584
16195675
1164092
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_4
N/A
M
Control
N/A
N/A
14939085
16447216
1508132
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_5
N/A
F
Control
N/A
N/A
14968542
15898880
930339
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_6
N/A
M
Control
N/A
N/A
14968542
15909795
941254
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_7
N/A
F
Control
N/A
N/A
15031584
16195675
1164092
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_8
N/A
F
Control
N/A
N/A
15031584
16195675
1164092
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_9
N/A
F
Control
N/A
N/A
15031584
16195675
1164092
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
addis_15_ASD/DD/ID_discovery_cases-BBGRE112031
Unknown
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case1
FISH, RT-PCR, or qmPCR
De novo
Possibly segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case10
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case11
FISH, RT-PCR, or qmPCR
Maternal
Maternal
Multi-generational
Segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case12
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case15
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case16
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case17
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case18
FISH, RT-PCR, or qmPCR
Paternal
Not segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case19
FISH, RT-PCR, or qmPCR
Maternal
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case2
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
MIR6506,MIR484,MPV17L,NDE1,C16orf45,MARF1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case20
FISH, RT-PCR, or qmPCR
Maternal
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case21
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case22
FISH, RT-PCR, or qmPCR
Maternal
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case23
FISH, RT-PCR, or qmPCR
Paternal
Not segregated
MPV17L,C16orf45
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case24
FISH, RT-PCR, or qmPCR
De novo
Possibly segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case25
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case26
FISH, RT-PCR, or qmPCR
Paternal
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case27
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case28
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case29
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case3
FISH, RT-PCR, or qmPCR
Maternal
Maternal
Multi-generational
Segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case30
FISH, RT-PCR, or qmPCR
Maternal
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case32
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case33
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case34
FISH, RT-PCR, or qmPCR
Maternal
Not segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case35
FISH, RT-PCR, or qmPCR
Maternal
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case36
FISH, RT-PCR, or qmPCR
Maternal
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
FISH, RT-PCR, or qmPCR
Paternal
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case38
FISH, RT-PCR, or qmPCR
Maternal
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case39
FISH, RT-PCR, or qmPCR
Maternal
Maternal
Multi-generational
Segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case4
FISH, RT-PCR, or qmPCR
Maternal
Maternal
Multi-generational
Segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case40
FISH, RT-PCR, or qmPCR
Paternal
Paternal
Multi-generational
Segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case41
FISH, RT-PCR, or qmPCR
Paternal
Not segregated
RNU7-125P,ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,BFAR,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PARN,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,PLA2G10,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case42
FISH, RT-PCR, or qmPCR
Paternal
Not segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case43
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case5
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case6
FISH, RT-PCR, or qmPCR
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,PLA2G10,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case7
FISH, RT-PCR, or qmPCR
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case8
FISH, RT-PCR, or qmPCR
Paternal
Not segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case9
FISH, RT-PCR, or qmPCR
De novo
Possibly segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
bacchelli_20_ASD_discovery_cases-caseAB35
qPCR
Paternal
Simplex
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,ABCC6,BMERB1,MARF1,ABCC1,MYH11
bartnik_12_EP_discovery_cases-case21
Paternal
Paternal
Multiplex
Unknown
RNU6-213P,RPL15P20,RPL17P40,FOPNL,ABCC6,ABCC1,MYH11
bartnik_12_EP_discovery_cases-case22
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
battaglia_13_DD/ID/ASD_discovery_cases-case35
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
battaglia_13_DD/ID/ASD_discovery_cases-case43
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
bitar_19_ASD_discovery_cases-case110
qPCR
De novo
MIR1972-1,PDXDC1
bitar_19_ASD_discovery_cases-case61
qPCR
De novo
MIR1972-1,PDXDC1
brandler_18_ASD_discovery_cases-caseMT_14.3
PCR or SNP data validation (SNP VCF)
De novo
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
breuss_19_ASD_discovery_cases-caseF18_II-1
PCR, ddPCR
De novo
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,ABCC6,BMERB1,MARF1,ABCC1,NOMO3,MYH11
chaudhry_14_ASD/DD/ID_discovery_cases-caseL1
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
chen_21_ASD/DD/ID_discovery_cases-case38
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,CEP20,ABCC6,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NDE1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case100
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case101
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case102
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case103
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case104
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case105
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case106
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case107
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case108
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case109
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case110
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case111
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case112
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case113
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case114
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case115
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case116
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case117
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case118
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case119
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case120
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case121
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case122
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case123
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case124
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case125
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case126
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case127
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case128
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case129
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case130
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case131
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case132
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case133
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case134
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case135
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case136
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case137
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case138
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case139
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case140
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case141
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case142
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case143
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case144
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case145
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case146
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case147
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case148
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case149
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case150
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case151
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case152
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case153
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case154
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case155
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case156
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case157
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case158
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case159
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case160
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case161
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case162
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case163
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case164
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case165
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case166
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case167
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case168
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case169
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case170
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case171
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case172
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case173
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case174
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case175
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case176
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case177
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case178
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case179
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case180
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case181
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case182
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case183
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case184
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case185
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case186
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case187
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case188
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case189
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case190
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case191
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case192
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case193
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case194
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case195
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case196
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case197
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case198
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case199
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case200
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case201
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case98
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_cases-case99
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
curry_13_DD/ID/ASD_discovery_cases-patient17a1
De novo
Unknown
Possibly segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
digregorio_17_DD/ID_discovery_cases-DECIPHER_300044
qPCR
Maternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
digregorio_17_DD/ID_discovery_cases-DECIPHER_300150
Unknown
NTAN1,PDXDC1,RRN3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300521
qPCR
De novo
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
digregorio_17_DD/ID_discovery_cases-DECIPHER_300533
qPCR
Maternal
Maternal
Multi-generational
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
digregorio_17_DD/ID_discovery_cases-DECIPHER_300575
qPCR
Maternla
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
du_21_ASD/DD/ID_discovery_cases-case31
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P3,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3179-1,MIR3180-4,MIR3670-1,MIR3180-1,NPIPP1,MIR6511B2,MIR6506,MIR6770-1,MIR6511A1,RNU6-213P,MARF1,NPIPA1,PDXDC1,NOMO1
engchuan_15_ASD_discovery_cases-case14142_2400
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA1,PDXDC1,RRN3
engchuan_15_ASD_discovery_cases-case14142_2400
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
engchuan_15_ASD_discovery_cases-case14224_3580
Unknown
NPIPA5,MPV17L,C16orf45
engchuan_15_ASD_discovery_cases-case14283_4060
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
engchuan_15_ASD_discovery_cases-case14380_4930
Unknown
engchuan_15_ASD_discovery_cases-case14412_5210
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
engchuan_15_ASD_discovery_cases-case20070_1331001
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,MYH11
engchuan_15_ASD_discovery_cases-case20070_1331001
Unknown
ABCC6,ABCC1
engchuan_15_ASD_discovery_cases-case20070_1331001
Unknown
ABCC6
engchuan_15_ASD_discovery_cases-case20070_1331001
Unknown
ABCC1
engchuan_15_ASD_discovery_cases-case21015_1
Unknown
engchuan_15_ASD_discovery_cases-case3310_3
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,NPIPA1,PDXDC1,RRN3
engchuan_15_ASD_discovery_cases-case3441_3
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
engchuan_15_ASD_discovery_cases-case3613_3
Unknown
NTAN1,PDXDC1,RRN3
engchuan_15_ASD_discovery_cases-case4182_1
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
engchuan_15_ASD_discovery_cases-case5074_4
Unknown
engchuan_15_ASD_discovery_cases-case5258_3
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
engchuan_15_ASD_discovery_cases-case5298_3
Unknown
MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,PKD1P1,NOMO3,NPIPA7
fan_19_ASD_discovery_cases-caseASD443
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,MARF1,ABCC1,MYH11
feliciano_19_ASD_discovery_cases-caseSP0032712
Paternal
ABCC6
null
fitzgerald_14_ASD/DD/ID_discovery_cases-case000009
De novo
Unknown
Unknown
NTAN1,PDXDC1,RRN3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260060
Maternal
Simplex
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260710
De novo
Simplex
Segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
fry_16_DD/ID/EP/ASD_discovery_cases-caseR913
Solid phase hybridization (Illumina)
Possibly maternal
Maternal
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0852
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0853
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0854
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0855
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0856
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0857
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0858
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0859
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0860
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0861
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0862
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0863
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0864
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0865
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0866
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0867
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0868
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0869
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0870
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0871
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0872
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0873
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0874
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0875
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0876
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0877
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0878
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0879
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0880
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0881
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0882
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0883
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0884
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0885
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0886
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0887
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0888
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0889
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0890
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0891
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0892
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0893
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0894
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0895
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0896
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0897
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0898
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0899
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0900
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0901
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0902
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0903
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0904
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0905
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0906
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0907
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0908
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0909
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0910
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0911
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0912
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0913
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0914
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0915
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0916
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0917
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0918
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0919
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0920
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0921
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0922
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0923
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0924
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0925
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0926
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0927
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0928
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0929
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0930
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0931
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0932
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0933
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0934
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0935
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0936
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0937
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0938
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0939
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0940
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0941
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0942
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0943
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0944
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0945
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0946
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0947
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0948
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0949
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0950
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0951
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0952
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0953
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0954
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0955
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0956
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0957
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0958
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0959
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0960
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0961
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0962
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0963
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0964
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0965
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0966
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0967
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0968
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0969
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0970
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0971
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0972
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0973
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0974
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0975
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0976
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0977
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0978
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0979
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0980
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0981
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0982
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0983
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0984
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0985
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0986
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0987
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0988
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case14963
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case29386
FISH, aCGH, or confirmation by inheritance
Paternal
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case40354
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case44153
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case52716
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case68390
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_13a_ASD_discovery_cases-11450.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_cases-11511.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_cases-12861.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_cases-13215.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
C16orf45
girirajan_13a_ASD_discovery_cases-13534.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_cases-14165.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_cases-14169.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_cases-AU1039302
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13b_ASD_discovery_cases-32809111709
Unknown
Unknown
Unknown
NTAN1,PDXDC1,RRN3
granata_22_ASD/DD/ID_discovery_cases-case1
Maternal
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3180-4,MIR3179-2,MIR3670-2,NPIPP1,MIR6511B2,MIR6506,RNU6-213P,MARF1,PDXDC1
granata_22_ASD/DD/ID_discovery_cases-case4
De novo
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P3,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3179-1,MIR3180-4,MIR3670-1,MIR3180-1,NPIPP1,MIR6511B2,MIR6506,MIR6770-1,MIR6511A1,RNU6-213P,MARF1,NPIPA1,PDXDC1,NOMO1
han_22_ASD/DD/ID_discovery_cases-case19D0262
Maternal
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P3,PKD1P6,NOMO3,MIR484,RPL15P20,ABCC6P2,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3179-1,MIR3180-4,MIR3670-1,MIR3180-1,NPIPP1,MIR6511B2,MIR6506,MIR6770-1,MIR6511A1,RNU6-213P,MARF1,NPIPA1,PDXDC1,NOMO1
hnoonual_17_ASD_discovery_cases-caseTM50-3
Paternal
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
husson_20_ASD_discovery_cases-case106
ddPCR, QMPSF, or aCGH
Paternal
Simplex
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,MYH11
husson_20_ASD_discovery_cases-case225
ddPCR, QMPSF, or aCGH
Maternal
Simplex
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000203
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000799
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000864
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000882
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000971
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001106
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001137
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001152
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001216
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001839
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001898
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001945
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002009
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002172
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002233
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002327
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002470
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002536
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002729
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003818
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003854
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003908
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003909
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003985
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004046
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,NOMO1,NTAN1,NPIPA1,PDXDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004377
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004421
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004474
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004504
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004582
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004591
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004608
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004815
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004955
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005031
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005156
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005409
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,C16orf45,MARF1,ABCC1,MYH11
krumm_13_ASD_discovery_cases-case13125.p1
Paternal
Simplex
Not segregated
NTAN1,PDXDC1
krumm_13_ASD_discovery_cases-case13215.p1
Paternal
Simplex
Segregated
C16orf45
krumm_15_ASD_discovery_cases-case11450.p1
Illumina 1M
Paternal
Simplex
Segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
krumm_15_ASD_discovery_cases-case11511.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
krumm_15_ASD_discovery_cases-case11918.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
FOPNL
krumm_15_ASD_discovery_cases-case12261.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
FOPNL
krumm_15_ASD_discovery_cases-case12602.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ABCC6,ABCC1,NOMO3
krumm_15_ASD_discovery_cases-case12622.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ABCC6
krumm_15_ASD_discovery_cases-case12944.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
krumm_15_ASD_discovery_cases-case13125.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
NTAN1,PDXDC1
krumm_15_ASD_discovery_cases-case13721.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ABCC6
krumm_15_ASD_discovery_cases-case14165.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
krumm_15_ASD_discovery_cases-case14449.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MPV17L,C16orf45
kushima_18_ASD_discovery_cases-caseASD0509
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kushima_18_SCZ_discovery_cases-caseSCZ0240
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kushima_18_SCZ_discovery_cases-caseSCZ0673
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
kushima_18_SCZ_discovery_cases-caseSCZ0714
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kushima_18_SCZ_discovery_cases-caseSCZ2392
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kushima_18_SCZ_discovery_cases-caseSCZ2500
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kushima_22_ASD_discovery_cases-caseASD0509
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,RNU6-213P,MARF1,PDXDC1
kushima_22_BPD_discovery_cases-caseBD0755
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,RNU6-213P,MARF1,PDXDC1
kushima_22_BPD_discovery_cases-caseBD1672
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,MIR3179-2,MIR3180-2,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1,PDXDC1
kushima_22_BPD_discovery_cases-caseBD1901
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,RNU6-213P,MARF1,PDXDC1
kushima_22_BPD_discovery_cases-caseBD2035
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,MIR3179-2,MIR3180-2,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1,PDXDC1
kushima_22_SCZ_discovery_cases-caseSCZ0240
qRT-PCR
Unknown
ABCC6,NDE1,BMERB1,CEP20,MPV17L,PKD1P2,PKD1P1,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3179-2,MIR3180-2,MIR3670-2,NPIPA7,MIR6511A3,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1
kushima_22_SCZ_discovery_cases-caseSCZ0673
qRT-PCR
Unknown
ABCC6,NDE1,BMERB1,CEP20,MPV17L,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR6506,RNU6-213P,MARF1
kushima_22_SCZ_discovery_cases-caseSCZ0714
qRT-PCR
Paternal
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,MIR3179-2,MIR3180-2,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1,PDXDC1
kushima_22_SCZ_discovery_cases-caseSCZ2392
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,MIR3179-2,MIR3180-2,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1,PDXDC1
kushima_22_SCZ_discovery_cases-caseSCZ2500
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P3,PKD1P6,NOMO3,MIR484,RPL15P20,ABCC6P2,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3179-1,MIR3180-4,MIR3670-1,MIR3179-2,MIR3180-2,MIR3180-1,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,MIR6770-1,MIR6511A1,RNU6-213P,MARF1,NPIPA1,PDXDC1,NOMO1
kushima_22_SCZ_discovery_cases-caseSCZ3060
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3180-4,MIR3179-2,MIR3180-2,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1,PDXDC1
leblond_12_ASD_replication_cases-Pintocase6319_3
Paternal
ABCC6
leppa_16_ASD_discovery_cases-AU011404
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
leppa_16_ASD_discovery_cases-AU060703
Maternal
Multiplex
Not segregated (CNV not present in affected siblings)
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
leppa_16_ASD_discovery_cases-AU079103
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,RPL7P47,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,XYLT1,MYH11
leppa_16_ASD_discovery_cases-AU079104
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,RPL7P47,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,XYLT1,MYH11
leppa_16_ASD_discovery_cases-AU1039302
Maternal
Multiplex
Segregated (CNV present in both affected siblings, not present in unaffected siblings)
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
leppa_16_ASD_discovery_cases-AU1039303
Maternal
Multiplex
Segregated (CNV present in both affected siblings, not present in unaffected siblings)
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
leppa_16_ASD_discovery_cases-AU1194302
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
leppa_16_ASD_discovery_cases-AU2313303
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
leppa_16_ASD_discovery_cases-AU3128302
Paternal
Simplex
Not segregated (CNV also present in unaffected sibling AU3128301)
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
levy_11_ASD_discovery_cases-11450.p1
Paternal
Simplex
Segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,NOMO1,NTAN1,NPIPA1,PDXDC1,RRN3
levy_11_ASD_discovery_cases-11450.p1
Paternal
Simplex
Segregated
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
levy_11_ASD_discovery_cases-11511.p1
De novo
Simplex
Segregated
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
lionel_13_ASD/SCZ/EP_discovery_cases-proband4
Unknown
Simplex
Unknown
MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,ABCC6,PKD1P1,ABCC1,NOMO3,NPIPA7
mahjani_21_ASD_discovery_cases-case165
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P3,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3670-1,MIR3179-1,MIR3180-1,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,MIR6770-1,MIR6511A1,PKD1P6-NPIPP1,RNU6-213P,MARF1,NPIPA1,NOMO1,PDXDC1
mahjani_21_ASD_discovery_cases-case184
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,PKD1P6-NPIPP1,RNU6-213P,MARF1,PDXDC1
mahjani_21_ASD_discovery_cases-case223
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,PKD1P6-NPIPP1,RNU6-213P,MARF1,PDXDC1
mahjani_22_OCD/CTD_discovery_cases-case12
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P3,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3179-1,MIR3180-4,MIR3670-1,MIR3180-1,NPIPP1,MIR6511B2,MIR6506,MIR6770-1,MIR6511A1,RNU6-213P,MARF1,NPIPA1,PDXDC1,NOMO1
mahjani_22_OCD/CTD_discovery_cases-case3
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,RNU6-213P,MARF1,PDXDC1
maini_18_ASD/DD/ID_discovery_cases-case_unknown53
Paternal
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
mak_17_ASD_discovery_cases-case7
Maternal
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
mak_17_ASD_discovery_cases-case8
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
martucci_23_ASD_discovery_cases-case1
RT-PCR
Paternal
Simplex
ABCC6,NDE1,BMERB1,CEP20,MPV17L,PKD1P2,PKD1P1,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,RPL17P40,MIR3179-2,MIR3180-2,MIR3670-2,NPIPA7,MIR6511A3,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1
miyake_23_ASD_discovery_cases-case9445
qPCR
Paternal
NDE1,CEP20,RPL15P20,MYH11,ABCC1,RPL17P40,RNU6-213P
mulle_13_SCZ_discovery_cases_1-caseAJ_8290_1
Solid phase hybridization
Unknown
Unknown
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
munnich_19_ASD_discovery_cases-case30
FISH
Maternal
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,MYH11
nguyen_13_DD/ID/MCA/ASD_discovery_cases-261058
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,RPL7P47,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,XYLT1,MYH11
oikonomakis_16_ASD_discovery_cases-case578
De novo
MIR1972-1,MIR6511B2,MIR3180-4,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,PDXDC1,RRN3
pinto_10_ASD_discovery_cases-case5258_3
qPCR-Paternal,Agilent1M
paternal
Simplex
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
pinto_14_ASD_discovery_cases2-case14412_5210
qPCR, LR-PCR
Maternal
Simplex
Unknown (1 healthy sibling, not tested)
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
pinto_14_ASD_discovery_cases2-case20070_1331001
qPCR
Maternal
Simplex
Unknown (not tested)
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,MYH11
pinto_14_ASD_discovery_cases2-case3441_3
qPCR
Paternal
Simplex
Unknown (not tested)
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
pinto_14_ASD_discovery_cases2-case4182_1
Validation not attempted
Maternal
Simplex (identical twin with ASD)
Unknown (not tested)
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
pinto_14_ASD_discovery_cases2-case9766_202
qPCR
Maternal
Simplex
Unknown (no siblings)
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
poultney_13_ASD_discovery_cases-case03HI2407A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ABCC6
poultney_13_ASD_discovery_cases-case03HI2580A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ABCC6
poultney_13_ASD_discovery_cases-case04HI2755A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NOMO3
poultney_13_ASD_discovery_cases-case04HI2879A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
poultney_13_ASD_discovery_cases-case05HI3916A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NTAN1,PDXDC1,RRN3
poultney_13_ASD_discovery_cases-case05HI4694A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
ramalingam_11_16p13.11_discovery_cases-case1
qPCR
Maternal
NA
NA
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ramalingam_11_16p13.11_discovery_cases-case10
qPCR
Unknown
NA
NA
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
ramalingam_11_16p13.11_discovery_cases-case11
qPCR
Unknown
NA
NA
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
ramalingam_11_16p13.11_discovery_cases-case12
qPCR
Paternal
NA
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
ramalingam_11_16p13.11_discovery_cases-case2
qPCR
Maternal
NA
NA
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
ramalingam_11_16p13.11_discovery_cases-case3
qPCR
Unknown
NA
NA
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ramalingam_11_16p13.11_discovery_cases-case4
qPCR
De novo
NA
NA
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
ramalingam_11_16p13.11_discovery_cases-case5
qPCR
Maternal
NA
NA
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ramalingam_11_16p13.11_discovery_cases-case6
qPCR
Maternal
NA
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
rosenfeld_10_ASD_discovery_cases-case24008
FISH
Maternal
Unknown
Unknown
C16orf45,KIAA0430,NDE1,MYH11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
Not tested by qPCR
Unknown
Unknown
Unknown
NTAN1,PDXDC1,RRN3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
qPCR
Paternal
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
Not tested by qPCR
Unknown
Unknown
Unknown
NTAN1,PDXDC1,RRN3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
Not tested by qPCR
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
NPIPA5
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,PKD1P1,NOMO3,NPIPA7
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Segregated
FOPNL
sanders_11_ASD_discovery_cases-11086.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FOPNL
sanders_11_ASD_discovery_cases-11227.p1
Maternal
Simplex (quad-proband matched)
Segregated
C16orf45
sanders_11_ASD_discovery_cases-11235.p1
Paternal
Simplex (quad-proband matched)
Segregated
ABCC1
sanders_11_ASD_discovery_cases-11450.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA1,PDXDC1,RRN3
sanders_11_ASD_discovery_cases-11450.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
sanders_11_ASD_discovery_cases-11511.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,MYH11
sanders_11_ASD_discovery_cases-11710.p1
Paternal
Simplex (trio)
NA
FOPNL
sanders_11_ASD_discovery_cases-11845.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ABCC1
sanders_11_ASD_discovery_cases-11918.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FOPNL
sanders_11_ASD_discovery_cases-11977.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABCC1
sanders_11_ASD_discovery_cases-11990.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABCC1
sanders_11_ASD_discovery_cases-12261.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FOPNL
sanders_11_ASD_discovery_cases-12602.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ABCC6,ABCC1
sanders_11_ASD_discovery_cases-12622.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
ABCC6
sanders_11_ASD_discovery_cases-12634.p1
Paternal
Simplex (trio)
NA
NTAN1,PDXDC1,RRN3
sanders_11_ASD_discovery_cases-12892.p1
Both parents
Simplex (quad-proband matched)
Segregated
C16orf45
sanders_11_ASD_discovery_cases-12944.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NTAN1,PDXDC1,RRN3
sanders_11_ASD_discovery_cases-12944.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
sanders_11_ASD_discovery_cases-13162.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FOPNL
sanders_11_ASD_discovery_cases-13195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C16orf45
sansovic_17_DD/ID/ASD_discovery_cases-case23
Paternal
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
shen_10b_ASD_discovery_cases-caseII:5
Maternal
Simplex
Unknown
PDXDC1
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated
PDXDC1
shin_15_ASD/DD/ID_discovery_cases-case13
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
siu_16_ASD_discovery_cases-patient1
Unknown
Unknown
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
siu_16_ASD_discovery_cases-patient4
Unknown
Unknown
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
siu_16_ASD_discovery_cases-patient5
Unknown
Unknown
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
siu_16_ASD_discovery_cases-patient8
Unknown
Unknown
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case1
aCGH or MLPA
De novo
NTAN1,PDXDC1,RRN3
tropeano_13_DD/ASD_discovery_cases-case10
aCGH or MLPA
Paternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case11
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case12
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case13
aCGH or MLPA
Maternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case14
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case15
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case16
aCGH or MLPA
Paternal
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case17
aCGH or MLPA
Paternal
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case18
aCGH or MLPA
De novo
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case19
aCGH or MLPA
Maternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case2
aCGH or MLPA
De novo
NTAN1,PDXDC1,RRN3
tropeano_13_DD/ASD_discovery_cases-case20
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case21
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case22
aCGH or MLPA
Maternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case23
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case24
aCGH or MLPA
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case25
aCGH or MLPA
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case26
aCGH or MLPA
Maternal
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case27
aCGH or MLPA
Maternal
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case30
aCGH or MLPA
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case4
aCGH or MLPA
Paternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case5
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case6
aCGH or MLPA
Paternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case7
aCGH or MLPA
Maternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case8
aCGH or MLPA
Paternal
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_cases-case9
aCGH or MLPA
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_16_ASD/NDD_replication_cases-case85
Possibly paternal
Maternal
Multi-generational
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tuncay_23_ASD_discovery_cases-caseMCD-015-1
Unknown
NOMO3
tuncay_23_ASD_discovery_cases-caseMCD-030-3
Unknown
NOMO3
ullmann_07_ASD_discovery_cases-patientA-III-1
qPCR
Maternal
Multiplex
Partially segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ullmann_07_ASD_discovery_cases-patientB-III-2
qPCR
Maternal
Simplex
Segregated
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ullmann_07_ASD_replication_cases-patientC-II-1
aCGH
Unknown (not maternal)
Simplex
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ullmann_07_MR_discovery_cases-patientD-II-1
qPCR
Paternal
Simplex
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ullmann_07_MR_discovery_cases-patientE-II-1
qPCR
De novo
Simplex
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
ullmann_07_MR_replication_cases-patientF-II-2
FISH, aCGH, qPCR
Maternal
Simplex
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
verberne_22_ASD/DD/ID_discovery_cases-case433
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,RNU6-213P,MARF1,PDXDC1
wang_10_ASD_discovery_cases-AC0003
Unknown
NA
NA
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
werling_19_ASD_discovery_cases-caseA044
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
werling_19_ASD_discovery_cases-caseA092
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,MYH11
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient7
FISH
Paternal
Unknown
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
wolfe_16_ID_discovery_cases-DECIPHER327130
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
xu_16_ASD/DD/ID_discovery_cases-case11
Maternal
CNV gene content N/A (CNV start and end points N/A)
xu_16_ASD/DD/ID_discovery_cases-case12
Maternal
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yin_16_ASD_discovery_cases-case496
Unknown
Unknown
Unknown
ABCC6,NOMO3
yuen_17_ASD_discovery_cases-case1-0993-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-case2-1359-003
Affymetrix 6.0
Paternal
Multiplex
Possibly segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-case2-1359-004
Affymetrix CytoScanHD
Paternal
Multiplex
Possibly segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-case2-1525-003
Affymetrix CytoScan HD
Maternal
Simplex
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
yuen_17_ASD_discovery_cases-case2-1721-003
Affymetrix CytoScanHD
Maternal
Simplex
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
yuen_17_ASD_discovery_cases-case7-0024-003
Illumina OMNI 2.5M
Paternal
Multiplex
Possibly segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-case7-0024-005
Affymetrix CytoScan HD
Paternal
Multiplex
Possibly segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-case7-0105-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-case7-0123-003
Affymetrix CytoScanHD
Paternal
Simplex
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
yuen_17_ASD_discovery_cases-case7-0185-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
yuen_17_ASD_discovery_cases-caseAU060703
Not available
Maternal
Multiplex
Not segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
yuen_17_ASD_discovery_cases-caseAU079104
Not available
Maternal
Multiplex
Not segregated
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-caseAU3124304
Not available
Paternal
Multiplex
Not segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-caseAU3124311
Not available
Unknown
Simplex
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
yuen_17_ASD_discovery_cases-caseAU4054301
Not available
Paternal
Multiplex
Not segregated
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0687-003
RT-qPCR or WGS
Maternal
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,BMERB1,MARF1,ABCC1,NOMO3,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case12-8115-001
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case153030
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case157177
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case164265
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1359-003
RT-qPCR or WGS
Paternal
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1359-004
RT-qPCR or WGS
Paternal
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1525-003
RT-qPCR or WGS
Maternal
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case200767
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0111-003
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0185-003
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0284-003
RT-qPCR or WGS
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD31-S_896573
RT-qPCR or WGS
Maternal
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,BMERB1,MARF1,ABCC1,MYH11
null
zhang_23_ASD/DD/ID_discovery_cases-caseASD0144
qPCR
Maternal
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P3,PKD1P6,NOMO3,MIR484,RPL15P20,ABCC6P2,MYH11,ABCC1,NPIPA5,RPL17P40,MIR1972-1,MIR3179-1,MIR3180-4,MIR3670-1,MIR3179-2,MIR3180-2,MIR3180-1,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,MIR6770-1,MIR6511A1,RNU6-213P,MARF1,NPIPA1,PDXDC1,NOMO1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20015
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,ABCC6,NPIPA1,PDXDC1,RRN3,BMERB1,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control10
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control11
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control12
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control13
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control14
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control15
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control16
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control17
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control18
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control19
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control20
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control21
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control22
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control23
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control24
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control25
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control26
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control27
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control28
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control29
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control3
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control30
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control31
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control32
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control33
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control34
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control35
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control36
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control4
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control5
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control6
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control7
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control8
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
coe_14_ASD/DD/ID_discovery_controls-control9
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
engchuan_15_ASD_discovery_controls-controlB343432_1007844537
Unknown
MIR6511B2,MIR3180-4,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,PDXDC1,RRN3
engchuan_15_ASD_discovery_controls-controlB357724_1007844568
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,PDXDC1,RRN3
engchuan_15_ASD_discovery_controls-controlB399063_0067942624
Unknown
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
Unknown
FOPNL
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
Unknown
MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,ABCC6,PKD1P1,NOMO3,NPIPA7
engchuan_15_ASD_discovery_controls-controlHABC_900235_900235
Unknown
ABCC6
engchuan_15_ASD_discovery_controls-controlHABC_900367_900367
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
Unknown
FOPNL
engchuan_15_ASD_discovery_controls-controlHABC_901197_901197
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
engchuan_15_ASD_discovery_controls-controlHABC_902579_902579
Unknown
FOPNL
engchuan_15_ASD_discovery_controls-controlHABC_902864_902864
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
engchuan_15_ASD_discovery_controls-controlHABC_902959_900544
Unknown
MIR6511B2,MIR3180-4,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,PDXDC1,RRN3
girirajan_11_ASD_discovery_controls-NIMH_309
Unknown
MIR6511A1,MIR6770-1,MIR1972-1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA1,PDXDC1,RRN3
girirajan_12_ASD/DD/ID_discovery_controls-control78
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control79
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control80
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control81
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control82
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control83
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control84
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control85
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control86
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control87
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control88
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control89
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control90
NA
Unknown
Unknown
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
girirajan_13a_ASD_discovery_controls3-control10
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control11
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control12
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control13
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control14
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control15
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control16
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control17
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control18
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control6
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control7
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control8
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
girirajan_13a_ASD_discovery_controls3-control9
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
itsara_10_ASD_discovery_controls_2-11020
aCGH (custom NimbleGen 12 X 135)
De novo
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0016
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0017
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0018
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0019
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0020
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0021
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0022
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0023
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0024
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0025
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0026
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0027
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0028
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0029
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0030
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0031
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0032
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0033
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0034
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0035
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0036
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0037
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0038
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
krumm_13_ASD_discovery_controls-control12652.s1
Paternal
Simplex
NTAN1,PDXDC1,RRN3
krumm_13_ASD_discovery_controls-control13125.s1
Paternal
Simplex
NTAN1,PDXDC1
krumm_13_ASD_discovery_controls-control13689.s1
Maternal
Simplex
RPL17P40,ABCC6,ABCC1
krumm_15_ASD_discovery_controls-control11731.s1
Illumina 1MDuo
Paternal
NTAN1,PDXDC1
krumm_15_ASD_discovery_controls-control12622.s1
Illumina 1MDuo
Paternal
ABCC6
krumm_15_ASD_discovery_controls-control13125.s1
1M-Duov3
Paternal
NTAN1,PDXDC1
krumm_15_ASD_discovery_controls-control13721.s1
Omni2.5-4v1
Maternal
ABCC6
krumm_15_ASD_discovery_controls-control14449.s1
Omni2.5-4v1
Paternal
C16orf45
kushima_18_ASD/SCZ_discovery_controls-controlCON0290
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kushima_18_ASD/SCZ_discovery_controls-controlCON1016
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
kushima_18_ASD/SCZ_discovery_controls-controlCON1175
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kushima_18_ASD/SCZ_discovery_controls-controlCON1681
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0290
qRT-PCR
Unknown
ABCC6,NDE1,BMERB1,CEP20,MPV17L,PKD1P2,PKD1P1,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3179-2,MIR3180-2,MIR3670-2,NPIPA7,MIR6511A3,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1016
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P6,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,NPIPP1,MIR6511B2,MIR6506,RNU6-213P,MARF1,PDXDC1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1175
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,MIR3179-2,MIR3180-2,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1,PDXDC1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1681
qRT-PCR
Unknown
ABCC6,RRN3,NDE1,BMERB1,CEP20,NTAN1,MPV17L,PKD1P2,PKD1P1,PKD1P6,NOMO3,MIR484,RPL15P20,MYH11,ABCC1,NPIPA5,RPL17P40,MIR3180-4,MIR3179-2,MIR3180-2,MIR3670-2,NPIPP1,NPIPA7,MIR6511A3,MIR6511B2,MIR6511A2,MIR6506,MIR6770-2,RNU6-213P,MARF1,PDXDC1
leppa_16_ASD_discovery_controls-AU012203
Paternal
Multiplex
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
leppa_16_ASD_discovery_controls-AU3128301
Paternal
Simplex
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
levy_11_ASD_discovery_controls-11545.s1
Paternal
Simplex
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
levy_11_ASD_discovery_controls-12020.s1
Maternal
Simplex
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
levy_11_ASD_discovery_controls-12020.s2
Maternal
Simplex
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
levy_11_ASD_discovery_controls-12372.s1
De novo
Simplex
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
poultney_13_ASD_discovery_controls-control04C35546A
Unknown
MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
reinthaler_14_EP_discovery_controls-control12
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
reinthaler_14_EP_discovery_controls-control13
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
reinthaler_14_EP_discovery_controls-control14
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,NPIPA3,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,MYH11
sanders_11_ASD_discovery_controls-11336.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11545.s1
Paternal
Simplex (quad)
NA
ABCC6,ABCC1
sanders_11_ASD_discovery_controls-11545.s1
Paternal
Simplex (quad)
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,C16orf45,MARF1,ABCC1,MYH11
sanders_11_ASD_discovery_controls-11808.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12020.s1
Maternal
Simplex (quad)
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
sanders_11_ASD_discovery_controls-12261.s1
Unknown
Simplex (quad)
NA
C16orf45
sanders_11_ASD_discovery_controls-12347.s1
qPCR
De Novo
Simplex (quad)
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,NOMO3,MYH11
sanders_11_ASD_discovery_controls-12372.s1
qPCR
De Novo
Simplex (quad)
NA
MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,C16orf45,MARF1,ABCC1,MYH11
sanders_11_ASD_discovery_controls-12424.s1
Unknown
Simplex (quad)
NA
C16orf45
sanders_11_ASD_discovery_controls-12469.s1
Paternal
Simplex (quad)
NA
ABCC6
sanders_11_ASD_discovery_controls-12652.s1
Paternal
Simplex (quad)
NA
MIR1972-1,NTAN1,PDXDC1,RRN3
sanders_11_ASD_discovery_controls-12661.s1
Maternal
Simplex (quad)
NA
FOPNL
sanders_11_ASD_discovery_controls-12964.s1
Unknown
Simplex (quad)
NA
C16orf45
tropeano_13_DD/ASD_discovery_controls-control-Cooper_1
Unknown
ABCC6P2,MIR3179-1,MIR3670-1,MIR3180-1,MIR6511A1,MIR6770-1,MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NPIPA2,NOMO1,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-Shaikh_1
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
tropeano_13_DD/ASD_discovery_controls-control-Shaikh_2
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_1
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_2
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_3
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_4
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PKD1P1,NPIPA1,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,NOMO3,NPIPA7,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_5
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_6
Unknown
MIR1972-1,MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,PDXDC1,RRN3,C16orf45,MARF1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_7
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_8
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_9
Unknown
MIR6511B2,MIR3180-4,MIR6506,MIR484,RNU6-213P,RPL15P20,RPL17P40,NTAN1,NPIPP1,PKD1P6-NPIPP1,PKD1P6,NPIPA5,MPV17L,NDE1,FOPNL,ABCC6,PDXDC1,RRN3,C16orf45,MARF1,ABCC1,MYH11
No Animal Model Data Available