8p23.1CNV Type: Deletion-Duplication
Largest CNV size: 3261230 bp
Statistics Box:
Number of Reports: 47
Number of Reports: 47
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
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.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-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
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
280441
2
0
2
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
469019
1
1
2
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
159185
0
1
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
220142
1
1
2
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
3800000
8
6
14
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
698982
0
2
2
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
4088378
1
2
3
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
31990
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
649995
13
27
40
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
3601691
1
2
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
491000
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1295374
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
66852
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
25091
1
0
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
3800000
18
24
42
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
13145
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
1332786
2
0
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
5336926
60
46
106
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
33782
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
125703
1
4
5
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
119372
1
0
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
84207
1
0
1
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
119373
1
0
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
92908
4
1
5
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
113678
3
0
3
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
6783
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
1200000
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
1189000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
284229
0
3
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
474946
2
0
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
2820000
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
152000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
93000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
112197
0
1
1
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
5071677
12
3
15
ozgen_09_ASD_replication_cases
Cohort of 54 families with at least one autistic patient
54
ASD
66000
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
514092
0
2
2
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
86511
2
1
3
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)
679731
1
2
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
324879
5
2
7
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
146973
1
5
6
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
106253
41
3
44
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
5235000
1
1
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
3775000
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
3261230
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
3750000
0
1
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
740169
1
0
1
van_daalen_11_ASD_discovery_cases
ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
50
ASD (DSM-IV-TR, ADOS-G, and ADI-R)
66242
1
0
1
wolfe_18_ASD/DD/ID/ADHD_discovery_cases
Participants with deletions or duplications in the 2q13 CNV locus (10 individuals recruited from the Unique and National Health Service Regional Genetics Centre groups; 15 individuals recruited from DECIPHER)
25
Developmental delay observed in 76% of cases, mild or severe intellectual disability observed in 44%of cases; the most frequently diagnosed psychiatric disorders were ADHD (44% of cases) and ASD (24% of cases).
Median age 9 years (range, 4-42 years)
64.0% Male
N/A
0
1
1
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
52814
0
9
9
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
516384
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
3709
1
0
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
3800000
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
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
638771
11
26
37
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
3800000
0
0
0
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
89515
0
3
3
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
3646424
0
0
0
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
552442
6
1
7
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
38888
0
2
2
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
0
0
0
0
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
0
0
0
0
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
48800
1
0
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
1200000
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
231419
0
3
3
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
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)
400833
2
4
6
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
324879
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
50348
26
1
27
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
52814
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP)
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
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
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
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)
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
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)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
ozgen_09_ASD_replication_cases
Solid phase hybridization
HumanHap300
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
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
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
van_daalen_11_ASD_discovery_cases
Netherlands
Solid phase hybridization
Illumina HumanHap300 BeadChip
Beadstudio V2.3.41
FISH
wolfe_18_ASD/DD/ID/ADHD_discovery_cases
United Kingdom
N/A
N/A
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
brandler_18_ASD_replication_cases-caseAU1933301
N/A
F
ASD
Case from MSSNG cohort
10748182
11028622
280441
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU1933302
N/A
M
ASD
Case from MSSNG cohort
10748182
11028622
280441
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11178
NA
M
ASD
NA
NA
6979765
7055419
75655
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11581
NA
M
ASD
NA
NA
7427971
7896990
469020
GRCh38
Deletion
Yes
chehbani_22_ASD_discovery_cases-case57
NA
F
ASD, intellectual disability, and epilepsy
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with phenylketonuria and epilepsy.
Intellectual disability.
10737794
10896978
159185
GRCh38
Duplication
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
12130205
12143602
13398
GRCh38
Deletion
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
12176786
12389965
213180
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case705
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case706
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case707
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case708
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case709
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case710
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case711
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case712
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case713
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case714
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case715
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case716
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case717
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case718
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
8235068
12035082
3800015
GRCh38
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
12355381
12403541
48161
GRCh38
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
7385193
8034175
648983
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296542
N/A
M
Intellectual disability
Intellectual disability
11350104
11984392
634289
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_296543
N/A
F
Developmental delay/intellectual disability
7896002
11984392
4088391
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300157
N/A
M
Developmental delay
Global developmental delay, abnormal facial shape
10500842
11287557
786716
GRCh38
Duplication
Yes
egger_14_ASD_discovery_cases-caseA41
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
10053425
10085414
31990
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13045_543
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8236884
8288087
51204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13072_853
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6583857
6707088
123232
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14000_30
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14063_1070
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14113_2030
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8236884
8292517
55634
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14281_4040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14319_3030
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8236884
8288087
51204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14399_5080
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16043_1571070001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10732403
10840708
108306
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16065_1571161001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9322624
9560657
238034
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18121_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11877192
12090164
212973
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20069_1328001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6364154
6439029
74876
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20079_1352001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8275232
39515
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2158_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11776455
11814519
38065
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2275_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8461340
8591178
129839
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2300_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12033820
12390135
356316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3222_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8229779
8288087
58309
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3508_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8274909
8311465
36557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3571_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6365604
6416121
50518
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4322_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8287918
52201
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5007_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7117168
7318424
201257
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5057_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5268_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12033820
12676853
643034
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5354_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10759070
10834648
75579
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5440_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10754198
10840708
86511
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5442_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8229779
8305721
75943
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6052_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10117702
10149717
32016
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6120_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11786294
12378328
592035
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6219_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8240557
8288087
47531
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6236_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8240557
8288087
47531
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6242_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12033820
12390135
356316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6290_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6704571
6829269
124699
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8422_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8240557
8288087
47531
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8439_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8461340
8593251
131912
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8553_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8576_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10593501
10642392
48892
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8627_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10221343
10705604
484262
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8663_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6787873
7178957
391085
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8663_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11872585
12355381
482797
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9757_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8793247
8838939
45693
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0011734
N/A
M
ASD
Family history: father presents with anxiety and depression.
8318154
11919857
3601704
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0012909
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the father (mother unknown).
10428148
11285071
856924
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0033656
N/A
M
ASD
Family history: both parents present with anxiety.
6519864
6643050
123187
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR605
41 yrs.
M
Intellectual disability and epilepsy
Clinical features: intellectual disability, seizures. Age of seizure onset: <16 years. Epilepsy syndrome: unknown. Seizure types: unknown.
Intellectual disability
11856343
12347170
490828
GRCh38
Deletion
Yes
gai_11_ASD_discovery_cases-AU1156303
Autism
9818672
11114045
1295374
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU074503
Autism
11239564
11306415
66852
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case527-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
8683634
8708725
25092
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case2160
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2161
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2162
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2163
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2164
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2165
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2166
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2167
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2168
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2169
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2170
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2171
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2172
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2173
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2174
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2175
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2176
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2177
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2178
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2179
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2180
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2181
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2182
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2183
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2184
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2185
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2186
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2187
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2188
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2189
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2190
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2191
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2192
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2193
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2194
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2195
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2196
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2197
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2198
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2199
NA
NA
Developmental delay
NA
NA
8235068
12035082
3800015
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case31441
NA
NA
Cardiac defects
Heart defect
NA
8235068
12035082
3800015
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case68390
NA
NA
ADHD and epilepsy
ADHD, seizures, mild dysmorphic features
NA
8235068
12035082
3800015
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11818.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
6429753
6432825
3073
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13930.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
6409379
6422524
13146
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case16D2217
5 mos. 8 days
F
Developmental delay
8873043
10205828
1332786
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D2299
15 mos. 18 days
M
Developmental delay
8873043
10205828
1332786
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12182421
12610034
427614
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000110
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000111
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000199
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000337
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7022782
8273167
1250386
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000359
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8222339
12383643
4161305
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000381
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000452
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000482
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000544
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000560
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000565
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000601
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8273167
861871
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000657
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000740
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7195664
8222398
1026735
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000742
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000752
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7195664
7895064
699401
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000767
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000799
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000814
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000820
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11112581
11948451
835871
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000851
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000856
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000863
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000882
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8273167
861871
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000890
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12182421
12610034
427614
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000893
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7195664
8222398
1026735
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000898
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000900
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000903
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7514108
8222398
708291
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000943
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7195664
8222398
1026735
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000948
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000985
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000987
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000990
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000995
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001012
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001026
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001034
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001038
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001046
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001049
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001056
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001060
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001090
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001093
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001104
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001123
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001124
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001129
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001131
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
12182465
4771169
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7195664
7895064
699401
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001141
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001156
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001175
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001178
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9924272
11573632
1649361
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001182
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001184
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7195664
8222398
1026735
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001199
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001209
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001215
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8273108
11948451
3675344
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001222
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001233
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001244
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7514108
8222398
708291
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001250
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001263
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001286
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
8222398
811102
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001787
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7234837
12514815
5279979
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001965
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8336212
11984392
3648181
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002118
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8336212
11984392
3648181
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002258
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10094463
11518412
1423950
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002333
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8336212
12021806
3685595
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002599
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8222339
12182465
3960127
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002609
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
11961807
4550511
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003959
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8336212
11984392
3648181
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004062
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8272908
12182621
3909714
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004063
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8222139
12383784
4161646
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004366
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10056979
11573632
1516654
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004544
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411097
12610175
5199079
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004570
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6391161
6451673
60513
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004735
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8336212
11984392
3648181
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004793
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7195664
12383643
5187980
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004798
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
12546553
5135257
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004971
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9239988
10057038
817051
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005070
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7411297
7895064
483768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005083
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8336212
9953226
1617015
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005083
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9970431
11984392
2013962
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3076
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
8111659
8145440
33782
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case12861.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6409278
6445555
36278
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12921.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6832716
6924927
92212
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13538.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7055430
7056699
1270
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13600.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6811197
6936899
125703
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13802.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6438952
6445555
6604
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0179
21 yrs.
M
ASD, ID
Family history: negative.
Intellectual disability (IQ < 70)
9998540
10117911
119372
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2291
55 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
10252025
10336231
84207
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0179
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
9998539
10117911
119373
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0407
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
10209476
10285173
75698
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0457
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
10007412
10063429
56018
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0990
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
6594405
6630258
35854
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1299
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
10291739
10330175
38437
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD2010
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
10198833
10291740
92908
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2291
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
10252024
10336231
84208
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3241
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
10085157
10198834
113678
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3382
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
6594405
6630258
35854
GRCh38
Deletion
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.
9198198
9204980
6783
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1156303
N/A
M
ASD
9931490
11175491
1244002
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-case4-914
NA
M
Epilepsy
Phenotype: s-CSWSS . Seizure Characteristics: GTCS, atonic. Autistic features: No. ADHD features: No. Other features: Microcephaly.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 48, performance IQ 48 (at 6.5 years of age).
9740716
10930282
1189567
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11157.p1
NA
M
ASD
NA
NA
6612375
6896600
284226
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11447.p1
NA
M
ASD
NA
NA
6772869
6966547
193679
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11447.p1
NA
M
ASD
NA
NA
6971306
7202724
231419
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
15 yrs.
M
ASD and ID
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Intellectual disability
7381969
7806914
424946
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
7914040
8008640
94601
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown205
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 pathogenic
8287658
11107670
2820013
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case2207
NA
ASD
NA
NA
6814000
6966000
152000
Unknown
Duplication
No
nava_13_ASD_discovery_cases-Fam814Proband10026
N/A
M
ASD
Additional clinical profile info N/A
ID
7023403
7116528
93126
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-315-1
ASD
9343345
9455541
112197
Unknown
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_10
3.5 yrs.
M
NDD
Neonatal history: Irritable, Nuchal cord. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Echolalia. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait, Regression. Sleep problems: Sleep difficulty. Cardiac issues: ASD. Gastrointestinal abnormalities: Diarrhea. Frequent infections: Otitis media.
8287668
12002721
3715054
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_11
3.5 yrs.
M
NDD
Prenatal history: SGA, Reduced fetal movement. Neonatal history: Respiratory distress. Neurologic: Microcephaly. Cardiac issues: ASD, PS, Ascending aorta dilation. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Coxa valga/Pelvis/Femur head abnormality. Growth and Endocrine abnormalities: Obesity/Overweight. Dental abnormalities: Widely-spaced teeth.
9686949
11865694
2178746
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_12
3.6 yrs.
F
NDD
Prenatal history: Single umbilical artery. Neonatal history: Feeding difficulty, Poor suck, Overly sleepy, Irritable, Hypoglycemia. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Sensory processing disorder/Sensory issues, Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypertonia, Microcephaly. Cardiac issues: ASD, PS. Visual abnormalities: Refractive error, Strabismus. Gastrointestinal abnormalities: GERD. Musculoskeletal abnormalities: Hypermobile joints, Pes planus. Skin abnormalities: Eczema. Additional medical history: Conductive hearing loss (fluid).
7256133
11865694
4609562
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_13
5.1 yrs.
F
ASD
Prenatal history: Cardiac finding, Pre-eclampsia. Neonatal history: Feeding difficulty, Poor suck, Irritable, Stiff infant. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity, Sensory processing disorder/Sensory issues, Autism, Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypotonia, Microcephaly. Sleep problems: Sleep difficulty. Cardiac issues: ASD, PS. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation. Growth and Endocrine abnormalities: Precocious puberty, Hypo/hyperthyroidism.
7514067
12003336
4489270
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_14
4.5 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Aggessivity/Tantrums/Impulsivity, Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Difficulty walking/Wobbly, clumsy gait, Microcephaly, Coordination problems. Brain imaging abnormality: Cerebral/cerebellar atrophy. Seizures: Febrile. EEG: Other abnormal activity. Sleep problems: Other sleep problems. Cardiac issues: ASD. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Equinovarus/equinovalgus, Pes planus. Growth and Endocrine abnormalities: Obesity/Overweight.
8242861
12546553
4303693
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_15
6.5 yrs.
F
Epilepsy/seizures
Prenatal history: SGA, Cardiac finding. Neonatal history: Feeding difficulty, Poor suck, Prematurity, Respiratory distress. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity, Sensory processing disorder/Sensory issues. Neurologic profile: Hypotonia, Microcephaly. Seizures: Complex partial. Cardiac issues: VSD, ASD, PS, HRHS. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty. Musculoskeletal abnormalities: Coxa valga/Pelvis/Femur head abnormality. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Eczema. Frequent infections: Otitis media, Upper respiratory infections, Urinary tract infections. Dental abnormalities: Small teeth. Additional medical history: Acquired von Willebrand.
8245167
12141062
3895896
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_17
10.9 yrs.
M
ASD and epilepsy/seizures
Prenatal history: Single umbilical artery. Neonatal history: Overly sleepy, Irritable. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity, Autism, Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypotonia, Hypertonia. Seizures: Tonic-clonic. Sleep problems: Sleep difficulty. Cardiac issues: ASD, PS. Gastrointestinal abnormalities: GERD. Genitourinary abnormalities: Hypospadias. Dental abnormalities: Crooked teeth.
8235645
12031270
3795626
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_18
13.7 yrs.
F
NDD
Prenatal history: Unspecified Prenatal history. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Prematurity. Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity, Echolalia. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait, Microcephaly, Ataxia. Cardiac issues: VSD, ASD, MVP, Arrhythmia. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, Feeding difficulty, CDH. Musculoskeletal abnormalities: Scoliosis. Genitourinary abnormalities: Prominent clitoris. Skin abnormalities: Dermatitis. Frequent infections: Otitis media, Upper respiratory infections, Urinary tract infections, Lower respiratory infections.
7311967
12383643
5071677
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_19
15.2 yrs.
M
Epilepsy/seizures
Neonatal history: Overly sleepy, Irritable. Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity. Brain imaging abnormality: Unspecified brain imaging abnormality. Seizures: Absence. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Scoliosis, Umbilical hernia. Additional medical history: High pain tolerance.
8586967
11640640
3053674
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_20
17.2 yrs.
F
Epilepsy/seizures
Neonatal history: Irritable. Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity, Anxiety, Psychiatric/psychosocial issues. Neurologic profile: Hypertonia, Difficulty walking/Wobbly, clumsy gait. Seizures: Absence. Sleep problems: Unspecified sleep problems. Cardiac issues: ASD, Other cardiac issues. Visual abnormalities: Refractive error, Strabismus. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Scoliosis. Growth and Endocrine abnormalities: Obesity/Overweight. Dental abnormalities: Crooked teeth.
8287668
12002721
3715054
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_8
1.7 yrs.
F
NDD
Prenatal history: Cardiac finding, Other Prenatal history. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable. Neurologic profile: Craniosynostosis. Cardiac issues: VSD, ASD, PS. Visual abnormalities: Refractive error.
8235646
12031270
3795625
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_9
1.8 yrs.
M
NDD
Prenatal history: SGA. Neonatal history: Torticollis. Neurologic profile: Microcephaly. Sleep problems: Sleep difficulty. Cardiac issues: VSD, ASD, PS, Other cardiac issues. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain.
8235646
12077956
3842311
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_4
2.4 yrs.
F
NDD
Prenatal history: Pre-eclampsia. Neonatal history: Overly sleepy, Irritable. Neurologic profile: Hypotonia, Balance issues. Cardiac issues: BAV. Gastrointestinal abnormalities: Constipation, GERD. Genitourinary abnormalities: Unspecified genitourinary abnormalities. Growth and Endocrine abnormalities: Short stature, failure to thrive, poor weight gain. Skin abnormalities: Eczema. Frequent infections: Otitis media.
8235542
12078598
3843057
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_5
11.5 yrs.
M
ASD
Prenatal history: Unspecified Prenatal history. Neonatal history: Floppy infant, Feeding difficulty, Overly sleepy. Neurobehavioral profile: Sensory processing disorder/Sensory issues, Autism. Neurologic profile: Hypotonia. Brain imaging abnormality: Unspecified brain imaging abnormality. Cardiac issues: BAV, Ascending aorta dilation. Visual abnormalities: Strabismus, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Constipation, GERD, Diarrhea, Other gastrointestinal abnormalities. Musculoskeletal abnormalities: Scoliosis. Genitourinary abnormalities: unspecified genitourinary abnormalities. Skin abnormalities: Eczema. Dental abnormalities: Crooked teeth.
8244118
12040700
3796583
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_52
12.3 yrs.
M
ASD and epilepsy/seizures
Prenatal history: SGA, Oligo-/Polyhydramnios or Renal issues. Neonatal history: Floppy infant, Irritable, Hypoglycemia. Neurobehavioral profile: Sensory processing disorder/Sensory issues, Autism, Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypotonia, Balance issues. Seizures: Absence. Sleep problems: Other sleep problems. Cardiac issues: Aortic regurgitation. Gastrointestinal abnormalities: Constipation. Skin abnormalities: Keratosis pilaris.
9953166
12021747
2068582
GRCh38
Duplication
No
ozgen_09_ASD_replication_cases-patient1
10
M
ASD
Dysmorphism, no motor delays, language delay, asymmetry of the ventricles
Non-verbal IQ 63
6390723
6456965
66243
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
7381969
7896061
514093
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
7381969
7896061
514093
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case3307_003
NA
M
Autism
Language delay, head circumference >P98, no dysmorphic features, no seizures
Average IQ
6316818
6341678
24861
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5354_3
NA
F
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features
Below average IQ (1%ile)
10759070
10834648
75579
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5440_3
NA
M
ASD
NA
NA
10754198
10840708
86511
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2291A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU038005; NDAR ID NDAR_INVGY788ULC)
7486332
7863537
377206
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4004A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1156303; NDAR ID NDAR_INVLW864ULL)
10245102
10924832
679731
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1083A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
6409277
7056699
647423
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case124498
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6489669
6814547
324879
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case147230
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10945397
10951035
5639
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47932
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
11766847
11792014
25168
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case71845
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10649392
10741616
92225
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case74431
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6718744
6926861
208118
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93736
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6274682
6324437
49756
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94073
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10658222
10732698
74477
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1300-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
10798927
10858518
59592
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1630-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: unknown.
7788513
7935485
146973
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-050
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
7854519
7935485
80967
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
7854519
7935485
80967
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-288
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
7974129
8034175
60047
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
8240557
8287918
47362
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11113.p1
15
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 89
11776455
11814519
38065
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11128.p1
11.4
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
11913580
11930179
16600
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
11921294
11930179
8886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
8909371
8928240
18870
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11504.p1
8.2
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
9193910
9204980
11071
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
8725599
8728506
2908
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11587.p1
12.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
11130043
11132011
1969
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11666.p1
7.7
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
8725599
8730079
4481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
8725599
8730079
4481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
6429649
6432721
3073
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
9591622
9596465
4844
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12011.p1
7.9
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
8725599
8730079
4481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12362.p1
7.5
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12382.p1
10.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
11915278
11930179
14902
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12465.p1
6.2
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12646.p1
17.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 126; verbal IQ, 103
9223788
9278055
54268
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12676.p1
11.5
M
ASD
NA
Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12715.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12744.p1
4.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12758.p1
11.3
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12878.p1
6.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
8725599
8730079
4481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12879.p1
10.3
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
8725599
8730079
4481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
6826615
6897026
70412
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12933.p1
10
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13036.p1
11.9
M
Autism
NA
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13096.p1
5.6
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 111; verbal IQ, 99
9388220
9494473
106254
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13168.p1
7.9
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
9198198
9204980
6783
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case22
1 yr.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
11526880
11728853
201974
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case57
5 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
7311968
12546553
5234586
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case5
6 yrs.
F
Developmental delay
Developmental delay
8250230
12025404
3775175
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR007-E6-8175-201
NA
ASD
NA
NA
8265938
11527182
3261245
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case26
F
DD/ID
Prominent forehead, arched eyebrows, partial 2/3 syndactyly of toes, cleft palate, learning difficulties
8242862
11993172
3750311
GRCh38
Duplication
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
7258539
7948707
690169
GRCh38
Deletion
No
van_daalen_11_ASD_discovery_cases-S6
8 yrs. 7 mos.
M
ASD
DSM-IV-TR classification: autistic disorder; ADOS-G classification: autistic disorder; ADI-R classification: autistic disorder. SRS score: 90. Family history of ASD and/or intellectual disability. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 98; mother's SRS score, 45; sister1's SRS score, 65.
WISC-III-NL scores: non-verbal cognitive score, 73; verbal cognitive score, 61.
6390723
6456965
66243
GRCh38
Deletion
Yes
wolfe_18_ASD/DD/ID/ADHD_discovery_cases-participant18
13 yrs.
M
ASD and ADHD
Behavior/psychiatric evaluation: Autism spectrum disorder; ADHD. Medical history: Glue ear; Arthralgia. Dysmorphic features: High anterior hairline; Broad nasal tip. Family history: affected younger sister and father.
Average intellectual functioning
N/A
N/A
N/A
Unknown
Duplication
No
yin_16_ASD_discovery_cases-case298
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8229622
8245297
15676
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case299
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8229622
8245297
15676
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case300
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12024338
12077151
52814
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case301
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12024338
12077151
52814
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case302
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12685212
12729881
44670
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case303
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12685212
12729881
44670
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case304
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12685212
12729881
44670
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case305
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12685212
12729881
44670
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case306
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12685212
12729881
44670
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01044s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
9579910
10096293
516384
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC08632
N/A
M
Control
Control from SSC cohort
11895661
11899370
3710
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036014918_
N/A
N/A
Control
No previous psychiatric history
8246260
8288087
41828
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036024602_
N/A
N/A
Control
No previous psychiatric history
10235718
10669232
433515
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB225412_1007841225
N/A
N/A
Control
No previous psychiatric history
8236884
8288087
51204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB250275_1007874021
N/A
N/A
Control
No previous psychiatric history
12033820
12390135
356316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB280220_1007852923
N/A
N/A
Control
No previous psychiatric history
8207524
8288087
80564
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
N/A
N/A
Control
No previous psychiatric history
8236884
8267885
31002
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB302261_1007874848
N/A
N/A
Control
No previous psychiatric history
6954037
7149893
195857
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB362048_1007874568
N/A
N/A
Control
No previous psychiatric history
9171903
9322624
150722
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB444410_1007852611
N/A
N/A
Control
No previous psychiatric history
6832754
6924749
91996
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB507195_1007874871
N/A
N/A
Control
No previous psychiatric history
8236884
8288087
51204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB528818_1007853876
N/A
N/A
Control
No previous psychiatric history
8236884
8390548
153665
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB542562_1007854322
N/A
N/A
Control
No previous psychiatric history
9385918
9486468
100551
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB598149_1007874481
N/A
N/A
Control
No previous psychiatric history
8702388
8855385
152998
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB662268_1007853570
N/A
N/A
Control
No previous psychiatric history
10038301
10196372
158072
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB717789_1007873953
N/A
N/A
Control
No previous psychiatric history
9126792
9565416
438625
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB742681_1007852619
N/A
N/A
Control
No previous psychiatric history
8236884
8288087
51204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB747654_1007844423
N/A
N/A
Control
No previous psychiatric history
8207524
8288087
80564
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB772297_1007873646
N/A
N/A
Control
No previous psychiatric history
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB921092_1007872230
N/A
N/A
Control
No previous psychiatric history
6873965
6971563
97599
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB926936_1007854182
N/A
N/A
Control
No previous psychiatric history
11771732
12403541
631810
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900087_900087
N/A
N/A
Control
No previous psychiatric history
11898004
12071913
173910
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900284_900284
N/A
N/A
Control
No previous psychiatric history
8240557
8305721
65165
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900296_900296
N/A
N/A
Control
No previous psychiatric history
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900312_900312
N/A
N/A
Control
No previous psychiatric history
8240557
8288087
47531
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900339_900339
N/A
N/A
Control
No previous psychiatric history
10132848
10189128
56281
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
N/A
N/A
Control
No previous psychiatric history
11212451
11452781
240331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900453_900453
N/A
N/A
Control
No previous psychiatric history
8240557
8288087
47531
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900550_900550
N/A
N/A
Control
No previous psychiatric history
8240557
8288087
47531
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
N/A
N/A
Control
No previous psychiatric history
8251733
8305721
53989
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
N/A
N/A
Control
No previous psychiatric history
10390306
10429105
38800
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901182_901182
N/A
N/A
Control
No previous psychiatric history
8806277
8859461
53185
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901257_901257
N/A
N/A
Control
No previous psychiatric history
12003336
12377064
373729
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901257_901257
N/A
N/A
Control
No previous psychiatric history
10754198
10800086
45889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902545_902545
N/A
N/A
Control
No previous psychiatric history
8235718
8288087
52370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
N/A
N/A
Control
No previous psychiatric history
8240557
8288087
47531
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902800_902800
N/A
N/A
Control
No previous psychiatric history
6444633
6610465
165833
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
N/A
N/A
Control
No previous psychiatric history
8240557
8288087
47531
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
10891773
10958196
66424
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-54104102012
N/A
N/A
Control
Ethnicity: Hispanic
N/A
10891773
10958196
66424
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-70005105416
N/A
N/A
Control
Ethnicity: Caucasian
N/A
10891773
10981288
89516
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1302
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
7692470
7918888
226419
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1305
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
8111659
8145440
33782
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1308
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
7366447
7918888
552442
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split216
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
8318850
8450761
131912
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split437
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
8318850
8439068
120219
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split507
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
8318850
8448429
129580
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split849
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
7366447
7764379
397933
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12861.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6406667
6445555
38889
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13802.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6406667
6445555
38889
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-controlPN400281
N/A
F
Control
Non-autism control
6708663
6757460
48798
GRCh38
Deletion
No
leppa_16_ASD_discovery_controls-AU1156302
N/A
F
Control
Unaffected sibling
9931490
11175491
1244002
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11335.s1
NA
F
Control
NA
NA
11534447
11571536
37090
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11447.s1
NA
F
Control
NA
NA
6772869
6966547
193679
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11447.s1
NA
F
Control
NA
NA
6971306
7202724
231419
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31229A
N/A
F
Control
NIMH Control (NIMH ID 22048)
7462705
7863537
400833
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C38268A
N/A
M
Control
NIMH Control (NIMH ID 16691)
7462705
7863537
400833
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39242A
N/A
F
Control
NIMH Control (NIMH ID 32194)
7462705
7863537
400833
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39664
N/A
M
Control
NIMH Control (NIMH ID 29934)
7486332
7863537
377206
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41452A
N/A
M
Control
NIMH Control (NIMH ID 70653)
7462705
7863537
400833
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C45097
N/A
M
Control
NIMH Control (NIMH ID 39367)
11973935
11996253
22319
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11037.s1
6.5
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11079.s1
13.4
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11089.s1
9.3
M
Control (matched sibling)
NA
NA
8725599
8728506
2908
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
8725599
8728506
2908
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11519.s1
4.3
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
10771437
10777807
6371
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11716.s1
11.6
M
Control (matched sibling)
NA
NA
10103735
10121634
17900
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11993.s1
5.8
M
Control (matched sibling)
NA
NA
9196404
9204980
8577
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
8722943
8730079
7137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
9227707
9278055
50349
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12366.s1
7.8
F
Control (matched sibling)
NA
NA
6633144
6648428
15285
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12382.s1
12.4
M
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12626.s1
16.3
F
Control (matched sibling)
NA
NA
8725599
8730079
4481
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12628.s1
13.6
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
8725599
8730079
4481
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12715.s1
4.2
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
9169129
9188802
19674
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
9198198
9204980
6783
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU1933301
No validation step reported
Paternal
MIR1322,PINX1,XKR6
brandler_18_ASD_replication_cases-caseAU1933302
No validation step reported
Paternal
MIR1322,PINX1,XKR6
celestino-soper_11_ASD_discovery_cases-11178
Unknown
Simplex
NA
DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,DEFA1,DEFA11P
celestino-soper_11_ASD_discovery_cases-11581
Solid phase hybridization (Illumina 1M SNP)
Inherited
Simplex
NA
DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
chehbani_22_ASD_discovery_cases-case57
Unknown
Simplex
PINX1,XKR6,MIR1322,PINX1-DT
chung_11_ASD_discovery_cases-proband
Both parents
Simplex
NA
USP17L7,USP17L2,FAM66D
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,FAM66D,ENPP7P12,FAM66A,FAM86B1
coe_14_ASD/DD/ID_discovery_cases-case705
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case706
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case707
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case708
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case709
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case710
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case711
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case712
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case713
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case714
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case715
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case716
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case717
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
coe_14_ASD/DD/ID_discovery_cases-case718
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
ZNF705CP,DEFB109A,FAM66A
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,DEFB104B,SPAG11A,FAM66E,DEFB109C
digregorio_17_DD/ID_discovery_cases-DECIPHER_296542
qPCR
De novo
RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,TDH,FAM167A,GATA4,NEIL2,CTSB,FAM167A-AS1,FDFT1,BLK
digregorio_17_DD/ID_discovery_cases-DECIPHER_296543
qPCR
De novo
DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
digregorio_17_DD/ID_discovery_cases-DECIPHER_300157
qPCR
Unknown
MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,PRSS55,C8orf74,LINC00529,MTMR9,RP1L1,PINX1,XKR6,PRSS51
egger_14_ASD_discovery_cases-caseA41
Unknown
Unknown
MSRA
engchuan_15_ASD_discovery_cases-case13045_543
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case13072_853
Unknown
MIR8055,MCPH1,MCPH1-AS1
engchuan_15_ASD_discovery_cases-case14000_30
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case14063_1070
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case14113_2030
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case14281_4040
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case14319_3030
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case14399_5080
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case16043_1571070001
Unknown
MIR1322,PINX1
engchuan_15_ASD_discovery_cases-case16065_1571161001
Unknown
RNU6-526P,TNKS
engchuan_15_ASD_discovery_cases-case18121_302
Unknown
OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253
engchuan_15_ASD_discovery_cases-case20069_1328001
Unknown
MCPH1
engchuan_15_ASD_discovery_cases-case20079_1352001
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case2158_1
Unknown
SUB1P1,NEIL2,FDFT1
engchuan_15_ASD_discovery_cases-case2275_1
Unknown
RN7SL178P
engchuan_15_ASD_discovery_cases-case2300_1
Unknown
DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B1
engchuan_15_ASD_discovery_cases-case3222_4
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case3508_3
Unknown
engchuan_15_ASD_discovery_cases-case3571_4
Unknown
MCPH1
engchuan_15_ASD_discovery_cases-case4322_1
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case5007_3
Unknown
RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,FAM90A15P,FAM90A4P,FAM66B
engchuan_15_ASD_discovery_cases-case5057_4
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case5268_3
Unknown
DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,RPS3AP35,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,FAM86B1,ENPP7P6
engchuan_15_ASD_discovery_cases-case5354_3
Unknown
MIR1322,PINX1
engchuan_15_ASD_discovery_cases-case5440_3
Unknown
MIR1322,PINX1
engchuan_15_ASD_discovery_cases-case5442_3
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case6052_1
Unknown
MSRA
engchuan_15_ASD_discovery_cases-case6120_4
Unknown
SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FDFT1,FAM86B1
engchuan_15_ASD_discovery_cases-case6219_4
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case6236_4
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case6242_4
Unknown
DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B1
engchuan_15_ASD_discovery_cases-case6290_3
Unknown
MIR4659A,MIR4659B,AGPAT5,MCPH1-AS1,XKR5
engchuan_15_ASD_discovery_cases-case8422_202
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case8439_202
Unknown
RN7SL178P
engchuan_15_ASD_discovery_cases-case8553_201
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_cases-case8576_201
Unknown
RP1L1
engchuan_15_ASD_discovery_cases-case8627_201
Unknown
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,PRSS55,C8orf74,MSRA,RP1L1,PRSS51
engchuan_15_ASD_discovery_cases-case8663_201
Unknown
DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,GS1-24F4.2,DEFA1,DEFA11P,XKR5
engchuan_15_ASD_discovery_cases-case8663_201
Unknown
OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM86B1
engchuan_15_ASD_discovery_cases-case9757_201
Unknown
MFHAS1
feliciano_19_ASD_discovery_cases-caseSP0011734
De novo
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
null
feliciano_19_ASD_discovery_cases-caseSP0012909
Paternal
RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,PRSS55,C8orf74,LINC00529,MTMR9,MSRA,RP1L1,PINX1,XKR6,PRSS51
null
feliciano_19_ASD_discovery_cases-caseSP0033656
De novo
MIR8055,MCPH1,ANGPT2,MCPH1-AS1
null
fry_16_DD/ID/EP/ASD_discovery_cases-caseR605
Solid phase hybridization (Illumina)
Maternal
OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM86B1
gai_11_ASD_discovery_cases-AU1156303
Inherited
MSRA, UNQ9391, RP1L1, C8orf74, SOX7, PINX1, XKR6
gai_11_ASD_replication_cases-AU074503
Inherited
TDH, C8orf12
gazzellone_14_ASD_discovery_cases-case527-3
Unknown
Unknown
Unknown
CLDN23
girirajan_12_ASD/DD/ID_discovery_cases-case2160
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2161
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2162
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2163
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2164
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2165
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2166
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2167
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2168
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2169
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2170
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2171
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2172
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2173
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2174
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2175
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2176
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2177
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2178
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2179
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2180
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2181
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2182
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2183
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2184
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2185
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2186
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2187
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2188
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2189
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2190
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2191
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2192
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2193
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2194
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2195
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2196
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2197
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2198
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2199
NA
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case31441
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_12_ASD/DD/ID_discovery_cases-case68390
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
girirajan_13a_ASD_discovery_cases-11818.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MCPH1
girirajan_13a_ASD_discovery_cases-13930.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MCPH1
han_22_ASD/DD/ID_discovery_cases-case16D2217
Unknown
PPP1R3B,ERI1,MIR124-1HG,MIR124-1,RPL10P19,MIR597,MSRA,MIR4660,RNU7-55P,MSRA-DT,RNU6-682P,RNU6-526P,RNU6-1151P,TNKS,MFHAS1
han_22_ASD/DD/ID_discovery_cases-case16D2299
De novo
PPP1R3B,ERI1,MIR124-1HG,MIR124-1,RPL10P19,MIR597,MSRA,MIR4660,RNU7-55P,MSRA-DT,RNU6-682P,RNU6-526P,RNU6-1151P,TNKS,MFHAS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,ENPP7P12,FAM66A,FAM86B2,FAM86B1,ENPP7P6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000110
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000111
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000199
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000337
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,DEFB104B,SPAG11A,FAM66E,DEFB109C,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000359
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000381
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000452
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000482
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000544
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000560
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000565
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000601
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000657
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000740
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000742
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000752
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000767
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000799
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000814
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000820
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,XKR6,FAM167A-AS1,FDFT1,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000851
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000856
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000863
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000882
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000890
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,ENPP7P12,FAM66A,FAM86B2,FAM86B1,ENPP7P6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000893
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000898
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000900
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000903
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000943
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000948
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000985
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000987
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000990
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000995
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001012
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001026
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001034
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001038
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001046
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001049
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001056
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001060
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001090
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001093
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001104
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001123
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001124
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001129
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001131
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001141
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001156
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001175
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001178
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001182
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001184
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001199
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001209
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001215
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001222
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001233
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001244
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001250
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001263
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001286
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,DEFB104B,SPAG11A,FAM66E,DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001787
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,FAM66B,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001965
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002118
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002258
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002333
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002599
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002609
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003959
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004062
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004063
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004366
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004544
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004570
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MCPH1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004735
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004793
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,FAM66B,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004798
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,PRSS51,BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004971
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,TNKS,MSRA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005070
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005083
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,PRAG1,MFHAS1,RPL10P19,PPP1R3B,ERI1,TNKS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005083
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
kanduri_15_ASD_discovery_cases-case3076
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, FAM86B3P(dist=9272),SGK223(dist=29818)
krumm_15_ASD_discovery_cases-case12861.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MCPH1
krumm_15_ASD_discovery_cases-case12921.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
DEFB1,RPL23AP96,DEFA6,GS1-24F4.2,XKR5
krumm_15_ASD_discovery_cases-case13538.p1
1M-Duov3
Maternal
Simplex
Segregated
DEFA5
krumm_15_ASD_discovery_cases-case13600.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
DEFB1,RPL23AP96,DEFA6,DEFA4,GS1-24F4.2,XKR5
krumm_15_ASD_discovery_cases-case13802.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MCPH1
kushima_18_ASD_discovery_cases-caseASD0179
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
Simplex
Unknown
MSRA
kushima_18_SCZ_discovery_cases-caseSCZ2291
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
MSRA
kushima_22_ASD_discovery_cases-caseASD0179
qRT-PCR
Unknown
MSRA,MSRA-DT
kushima_22_BPD_discovery_cases-caseBD0407
qRT-PCR
Unknown
MSRA
kushima_22_BPD_discovery_cases-caseBD0457
qRT-PCR
Unknown
MSRA,MSRA-DT
kushima_22_BPD_discovery_cases-caseBD0990
qRT-PCR
Unknown
MCPH1,MCPH1-AS1,MIR8055
kushima_22_BPD_discovery_cases-caseBD1299
qRT-PCR
Unknown
MSRA
kushima_22_BPD_discovery_cases-caseBD2010
qRT-PCR
Unknown
MSRA
kushima_22_SCZ_discovery_cases-caseSCZ2291
qRT-PCR
Unknown
MSRA
kushima_22_SCZ_discovery_cases-caseSCZ3241
qRT-PCR
Unknown
MSRA
kushima_22_SCZ_discovery_cases-caseSCZ3382
qRT-PCR
Unknown
MCPH1,MCPH1-AS1,MIR8055
leblond_12_ASD_replication_cases-Pintocase6319_3
Paternal
leppa_16_ASD_discovery_cases-AU1156303
Maternal
Multiplex
Not segregated (CNV not present in affected sibling but is present in unaffected sibling AU1156302)
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,PRSS55,C8orf74,MSRA,RP1L1,PINX1,XKR6,PRSS51
lesca_12_EP_discovery_cases-case4-914
qPCR
De novo
Unknown
Possibly segregated
MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,PRSS55,C8orf74,TNKS,MSRA,RP1L1,PINX1,XKR6,PRSS51
levy_11_ASD_discovery_cases-11157.p1
Paternal
Simplex
Segregated
MIR8055,MIR4659A,MIR4659B,DEFB1,AGPAT5,GS1-24F4.2,MCPH1,MCPH1-AS1,XKR5
levy_11_ASD_discovery_cases-11447.p1
Maternal
Simplex
Not segregated
DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,GS1-24F4.2,XKR5
levy_11_ASD_discovery_cases-11447.p1
Maternal
Simplex
Not segregated
DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,DEFA1,DEFA11P
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Unknown
Simplex
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,ZNF705G,SPAG11B,DEFB107B,DEFB104B
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
DEFB108A,USP17L8,USP17L3,ZNF705B,FAM66E,DEFB109C
maini_18_ASD/DD/ID_discovery_cases-case_unknown205
De novo
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,PRSS51
morrow_08_ASD_discovery_cases-case2207
Paternal
NA
NA
DEFA1, DEFA3, DEFA5
nava_13_ASD_discovery_cases-Fam814Proband10026
Unknown
Simplex
Unknown
DEFA7P,DEFA5,DEFA11P
nord_11_ASD_discovery_cases-315-1
Maternal
TNKS
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_10
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,PRSS51,RPL19P13,OR7E161P,OR7E158P,MIR124-1,DEFB134,DEFB135,DEFB136,RPL10P19,MIR598,MIR597,SUB1P1,MSRA,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_11
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,RP1L1,MIR124-1HG,PRSS55,TDH,C8orf74,GATA4,NEIL2,XKR6,PRSS51,RPL19P13,MIR124-1,MIR598,MIR597,SUB1P1,MSRA,MIR1322,PRSS52P,MIR4286,RNA5SP252,RNU6-1084P,RN7SL293P,RNU6-729P,TNKS
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_12
Unknown
BLK,FDFT1,CTSB,DEFB4A,PINX1,DEFB103B,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,HSPD1P3,GATA4,NEIL2,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL19P13,USP17L8,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFB104B,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,USP17L4,FAM90A19P,FAM90A17P,SPAG11A,MIR598,FAM90A20P,MIR597,SUB1P1,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,DEFB4B,DEFB109C,RPS3AP31,MIR1322,MIR548I3,PRSS52P,MIR4286,ENPP7P1,MIR4660,RNA5SP252,RNU7-55P,PRR23D3P,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,SNRPCP17,RNU6-729P,TNKS,MFHAS1,SPAG11B
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_13
Unknown
BLK,FDFT1,CTSB,DEFB4A,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,RPL19P13,OR7E161P,OR7E158P,USP17L8,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,MIR124-1,FAM90A9P,FAM90A11P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,FAM90A21P,DEFB134,DEFB108A,DEFB135,DEFB136,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,FAM90A19P,FAM90A17P,SPAG11A,MIR598,MIR597,SUB1P1,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705B,DEFB109C,RPS3AP31,MIR1322,MIR548I3,PRSS52P,MIR4286,ENPP7P1,MIR4660,RNA5SP252,RNU7-55P,PRR23D3P,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,SNRPCP17,RNU6-729P,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_14
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,FAM86B1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,DEFB130A,DEFB109A,XKR6,FAM86B3P,USP17L2,PRSS51,ZNF705CP,RPL19P13,OR7E161P,OR7E158P,FAM90A25P,USP17L7,MIR124-1,DEFB134,DEFB108D,DEFB135,DEFB109D,DEFB108E,DEFB136,RPL10P19,FAM86B2,MIR598,ZNF705D,MIR597,SUB1P1,DEFB131C,FAM90A2P,MSRA,FAM66A,DEFB130B,FAM66D,DEFB131D,MIR1322,PRSS52P,ALG1L12P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,ENPP7P12,RNA5SP253,RNU6-526P,ALG1L11P,RN7SL293P,RNU6-1151P,RNA5SP254,RNU6-729P,ENPP7P6,DEFB131E,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_15
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,USP17L2,PRSS51,RPL19P13,OR7E161P,OR7E158P,USP17L7,MIR124-1,DEFB134,DEFB108D,DEFB135,DEFB136,RPL10P19,MIR598,ZNF705D,MIR597,SUB1P1,DEFB131C,MSRA,DEFB130B,FAM66D,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,RNU6-1084P,RNU6-682P,RNA5SP253,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,DEFB131E,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_17
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,FAM86B3P,PRSS51,RPL19P13,OR7E161P,OR7E158P,MIR124-1,DEFB134,DEFB135,DEFB136,RPL10P19,MIR598,MIR597,SUB1P1,MSRA,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,DEFB131E,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_18
Unknown
BLK,FDFT1,CTSB,DEFB4A,PINX1,DEFB103B,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,FAM86B1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,HSPD1P3,GATA4,NEIL2,DEFB107A,DEFB130A,DEFB106A,DEFB105A,XKR6,FAM86B3P,USP17L2,PRSS51,FAM90A6P,ZNF705CP,RPL19P13,OR7E161P,OR7E158P,USP17L8,USP17L7,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A9P,FAM90A11P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB134,DEFB108D,DEFB108A,DEFB108C,DEFB135,DEFB107B,DEFB105B,DEFB109D,DEFB108E,DEFB136,DEFB104B,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,USP17L4,FAM90A19P,FAM90A17P,SPAG11A,MIR598,ZNF705D,MIR597,SUB1P1,DEFB131C,FAM90A2P,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,FAM66A,DEFB130B,ZNF705B,FAM66D,DEFB4B,DEFB109C,RPS3AP31,DEFB131D,MIR1322,MIR548I3,PRSS52P,MIR4286,ENPP7P1,MIR4660,RNA5SP252,RNU7-55P,PRR23D3P,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,ENPP7P12,RNA5SP253,RNU6-526P,ALG1L11P,RN7SL293P,RNU6-1151P,SNRPCP17,RNA5SP254,RNU6-729P,DEFB131E,TNKS,MFHAS1,SPAG11B
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_19
Unknown
BLK,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,TDH,C8orf74,XKR6,PRSS51,RPL19P13,MIR124-1,RPL10P19,MIR598,MIR597,MSRA,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_20
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,PRSS51,RPL19P13,OR7E161P,OR7E158P,MIR124-1,DEFB134,DEFB135,DEFB136,RPL10P19,MIR598,MIR597,SUB1P1,MSRA,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_8
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,FAM86B3P,PRSS51,RPL19P13,OR7E161P,OR7E158P,MIR124-1,DEFB134,DEFB135,DEFB136,RPL10P19,MIR598,MIR597,SUB1P1,MSRA,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,DEFB131E,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_9
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,FAM86B3P,PRSS51,RPL19P13,OR7E161P,OR7E158P,MIR124-1,DEFB134,DEFB135,DEFB136,RPL10P19,MIR598,MIR597,SUB1P1,DEFB131C,MSRA,DEFB130B,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,DEFB131E,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_4
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,FAM86B3P,PRSS51,RPL19P13,OR7E161P,OR7E158P,MIR124-1,DEFB134,DEFB135,DEFB136,RPL10P19,MIR598,MIR597,SUB1P1,DEFB131C,MSRA,DEFB130B,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,DEFB131E,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_5
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,PPP1R3B,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,CLDN23,MIR124-1HG,PRSS55,PRAG1,TDH,C8orf74,GATA4,NEIL2,XKR6,FAM86B3P,PRSS51,RPL19P13,OR7E161P,OR7E158P,MIR124-1,DEFB134,DEFB135,DEFB136,RPL10P19,MIR598,MIR597,SUB1P1,MSRA,MIR1322,PRSS52P,MIR4286,MIR4660,RNA5SP252,RNU7-55P,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RNU6-526P,RN7SL293P,RNU6-1151P,RNU6-729P,DEFB131E,TNKS,MFHAS1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_52
Unknown
BLK,FDFT1,CTSB,PINX1,MTMR9,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,RP1L1,PRSS55,TDH,C8orf74,GATA4,NEIL2,XKR6,PRSS51,RPL19P13,OR7E161P,OR7E158P,DEFB134,DEFB135,DEFB136,MIR598,SUB1P1,MSRA,MIR1322,PRSS52P,MIR4286,RNA5SP252,RNU6-1084P,RN7SL293P,RNU6-729P,DEFB131E
ozgen_09_ASD_replication_cases-patient1
De novo
NA
NA
MCPH1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Paternal
Multi-generational
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,ZNF705G,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Paternal
Multi-generational
Unknown
DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,ZNF705G,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
pinto_10_ASD_discovery_cases-case3307_003
LR-PCR across deletion
paternal
Multiplex
Not segregated
MCPH1 exonic
pinto_10_ASD_discovery_cases-case5354_3
qPCR-Paternal
paternal
Simplex
NA
MIR1322,PINX1
pinto_10_ASD_discovery_cases-case5440_3
Agilent1M
maternal
NA
NA
MIR1322,PINX1
poultney_13_ASD_discovery_cases-case01HI2291A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB107B,DEFB107A,SPAG11A
poultney_13_ASD_discovery_cases-case05HI4004A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,PRSS55,C8orf74,MSRA,RP1L1,PINX1,XKR6,PRSS51
poultney_13_ASD_discovery_cases-case99HI1083A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,MCPH1,ANGPT2,MCPH1-AS1,XKR5
prasad_12_ASD_discovery_cases-case124498
Unknown
Unknown
Unknown
XKR5,DEFB1,DEFA10P,DEFA6,AGPAT5,DEFA4
prasad_12_ASD_discovery_cases-case147230
Unknown
Unknown
Unknown
XKR6
prasad_12_ASD_discovery_cases-case47932
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case71845
Unknown
Unknown
Unknown
PINX1,MIR1322
prasad_12_ASD_discovery_cases-case74431
Unknown
Unknown
Unknown
DEFB1,DEFA10P,DEFT1P2,DEFA6,DEFA5,DEFA4,DEFA3,DEFA1,DEFA1B,DEFT1P
prasad_12_ASD_discovery_cases-case93736
Unknown
Unknown
Unknown
MCPH1
prasad_12_ASD_discovery_cases-case94073
Unknown
Unknown
Unknown
PINX1,MIR1322
sajan_13_ACC/CBLH/PMG_discovery_cases-case1300-0
Not tested by qPCR
Unknown
Unknown
Unknown
MIR1322,PINX1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1630-0
Not tested by qPCR
Unknown
Unknown
Unknown
DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,DEFB107A,ZNF705B,SPAG11A
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-050
Not tested by qPCR
Unknown
Unknown
Unknown
DEFB103A,HSPD1P2,DEFB4A,DEFB108A,ZNF705B,SPAG11A
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
Not tested by qPCR
Unknown
Unknown
Unknown
DEFB103A,HSPD1P2,DEFB4A,DEFB108A,ZNF705B,SPAG11A
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-288
Not tested by qPCR
Unknown
Unknown
Unknown
USP17L3,FAM90A11P,FAM90A24P,FAM90A12P,FAM66E,DEFB109C
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128
Not tested by qPCR
Unknown
Unknown
Unknown
FAM86B3P,ALG1L13P
sanders_11_ASD_discovery_cases-11030.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11113.p1
Maternal
Simplex (trio)
NA
SUB1P1,NEIL2,FDFT1
sanders_11_ASD_discovery_cases-11128.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11132.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11135.p1
Paternal
Simplex (quad-proband matched)
Segregated
OR7E158P,OR7E161P
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11188.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11343.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11399.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11456.p1
Both parents
Simplex (quad-proband matched)
Segregated
OR7E161P
sanders_11_ASD_discovery_cases-11472.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11504.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11519.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11543.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11556.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11587.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11598.p1
Maternal
Simplex (trio)
NA
XKR6
sanders_11_ASD_discovery_cases-11609.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11666.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11693.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11818.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MCPH1
sanders_11_ASD_discovery_cases-11845.p1
Unknown
Simplex (quad-proband matched)
Segregated
TNKS
sanders_11_ASD_discovery_cases-11982.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12011.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12362.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12382.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12429.p1
Maternal
Simplex (trio)
NA
OR7E158P,OR7E161P
sanders_11_ASD_discovery_cases-12465.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12637.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12646.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12651.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12676.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12715.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12744.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12758.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12805.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12878.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12879.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12921.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DEFB1,GS1-24F4.2,XKR5
sanders_11_ASD_discovery_cases-12933.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13036.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13096.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13168.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sansovic_17_DD/ID/ASD_discovery_cases-case22
Maternal
LINC00208,GATA4,BLK
sansovic_17_DD/ID/ASD_discovery_cases-case57
Unknown
DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,FAM66B,PRSS51,BLK
shin_15_ASD/DD/ID_discovery_cases-case5
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
szatmari_07_ASD_discovery_cases-NAAR007-E6-8175-201
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,PRSS51,BLK
tzetis_12_DD/ID_discovery_cases-case26
Unknown
Unknown
RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,PRSS51,BLK
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,DEFB104B,SPAG11A,FAM66B
van_daalen_11_ASD_discovery_cases-S6
FISH
De novo
Simplex
NA
MCPH1
wolfe_18_ASD/DD/ID/ADHD_discovery_cases-participant18
No validation methodology described
Unknown
MCPH1
yin_16_ASD_discovery_cases-case298
Unknown
Unknown
Unknown
FAM86B3P,ALG1L13P
yin_16_ASD_discovery_cases-case299
Unknown
Unknown
Unknown
FAM86B3P,ALG1L13P
yin_16_ASD_discovery_cases-case300
Unknown
Unknown
Unknown
DEFB131C,DEFB130B
yin_16_ASD_discovery_cases-case301
Unknown
Unknown
Unknown
DEFB131C,DEFB130B
yin_16_ASD_discovery_cases-case302
Unknown
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,LONRF1
yin_16_ASD_discovery_cases-case303
Unknown
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,LONRF1
yin_16_ASD_discovery_cases-case304
Unknown
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,LONRF1
yin_16_ASD_discovery_cases-case305
Unknown
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,LONRF1
yin_16_ASD_discovery_cases-case306
Unknown
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,LONRF1
yuan_23_ASD_discovery_cases-qma01044s000
De novo
MIR124-1HG,MIR124-1,MIR597,MSRA,MSRA-DT,TNKS
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC08632
SNP VCF
De novo
engchuan_15_ASD_discovery_controls-control110036014918_
Unknown
engchuan_15_ASD_discovery_controls-control110036024602_
Unknown
LINCR-0001,RNU6-729P,MIR4286,PRSS55,MSRA,RP1L1,PRSS51
engchuan_15_ASD_discovery_controls-controlB225412_1007841225
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlB250275_1007874021
Unknown
DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B1
engchuan_15_ASD_discovery_controls-controlB280220_1007852923
Unknown
ENPP7P1,FAM85B,FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlB302261_1007874848
Unknown
DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,DEFA1,DEFA11P
engchuan_15_ASD_discovery_controls-controlB362048_1007874568
Unknown
RNU6-1151P
engchuan_15_ASD_discovery_controls-controlB444410_1007852611
Unknown
DEFB1,RPL23AP96,DEFA6,GS1-24F4.2,XKR5
engchuan_15_ASD_discovery_controls-controlB507195_1007874871
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlB528818_1007853876
Unknown
FAM86B3P,ALG1L13P,PRAG1
engchuan_15_ASD_discovery_controls-controlB542562_1007854322
Unknown
engchuan_15_ASD_discovery_controls-controlB598149_1007874481
Unknown
CLDN23,MFHAS1
engchuan_15_ASD_discovery_controls-controlB662268_1007853570
Unknown
MSRA
engchuan_15_ASD_discovery_controls-controlB717789_1007873953
Unknown
RNU6-1151P,RNU6-526P,PPP1R3B,TNKS
engchuan_15_ASD_discovery_controls-controlB742681_1007852619
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlB747654_1007844423
Unknown
ENPP7P1,FAM85B,FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlB772297_1007873646
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlB921092_1007872230
Unknown
DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,GS1-24F4.2
engchuan_15_ASD_discovery_controls-controlB926936_1007854182
Unknown
SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FDFT1,FAM86B1
engchuan_15_ASD_discovery_controls-controlHABC_900087_900087
Unknown
OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B
engchuan_15_ASD_discovery_controls-controlHABC_900284_900284
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900296_900296
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900312_900312
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900339_900339
Unknown
MSRA
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
Unknown
RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00529,MTMR9,TDH,FAM167A,FAM167A-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900453_900453
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900550_900550
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
Unknown
MSRA
engchuan_15_ASD_discovery_controls-controlHABC_901182_901182
Unknown
MFHAS1
engchuan_15_ASD_discovery_controls-controlHABC_901257_901257
Unknown
DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B1
engchuan_15_ASD_discovery_controls-controlHABC_901257_901257
Unknown
PINX1
engchuan_15_ASD_discovery_controls-controlHABC_902545_902545
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
Unknown
FAM86B3P,ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_902800_902800
Unknown
MCPH1,ANGPT2
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
Unknown
FAM86B3P,ALG1L13P
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
XKR6
girirajan_13b_ASD_discovery_controls-54104102012
Unknown
XKR6
girirajan_13b_ASD_discovery_controls-70005105416
Unknown
XKR6
kanduri_15_ASD_discovery_controls-control_split1302
Unknown
DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB4A,SPAG11A,SPAG11B,USP17L3,USP17L8,ZNF705B
kanduri_15_ASD_discovery_controls-control_split1305
Unknown
Intergenic CNV: nearest genes, FAM86B3P(dist=9272),SGK223(dist=29818)
kanduri_15_ASD_discovery_controls-control_split1308
Unknown
DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,PRR23D1,PRR23D2,SPAG11A,SPAG11B,USP17L3,USP17L8,ZNF705B
kanduri_15_ASD_discovery_controls-control_split216
Unknown
Intergenic CNV: nearest genes, SGK223(dist=79593),CLDN23(dist=108905)
kanduri_15_ASD_discovery_controls-control_split437
Unknown
Intergenic CNV: nearest genes, SGK223(dist=79593),CLDN23(dist=120598)
kanduri_15_ASD_discovery_controls-control_split507
Unknown
Intergenic CNV: nearest genes, SGK223(dist=79593),CLDN23(dist=111237)
kanduri_15_ASD_discovery_controls-control_split849
Unknown
DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,PRR23D1,PRR23D2,SPAG11A,SPAG11B
krumm_15_ASD_discovery_controls-control12861.s1
1M-Duov3
Maternal
MCPH1
krumm_15_ASD_discovery_controls-control13802.s1
Omni2.5-4v1
Paternal
MCPH1
leblond_19_ASD_discovery_controls-controlPN400281
Unknown
MIR4659A,MIR4659B,AGPAT5
leppa_16_ASD_discovery_controls-AU1156302
Maternal
Multiplex
LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,PRSS55,C8orf74,MSRA,RP1L1,PINX1,XKR6,PRSS51
levy_11_ASD_discovery_controls-11335.s1
Maternal
Simplex
NA
BLK
levy_11_ASD_discovery_controls-11447.s1
Maternal
Simplex
NA
DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,GS1-24F4.2,XKR5
levy_11_ASD_discovery_controls-11447.s1
Maternal
Simplex
NA
DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,DEFA1,DEFA11P
poultney_13_ASD_discovery_controls-control04C31229A
Unknown
DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
poultney_13_ASD_discovery_controls-control04C38268A
Unknown
DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
poultney_13_ASD_discovery_controls-control05C39242A
Unknown
DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
poultney_13_ASD_discovery_controls-control05C39664
Unknown
DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB107B,DEFB107A,SPAG11A
poultney_13_ASD_discovery_controls-control05C41452A
Unknown
DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,SPAG11B,DEFB107B,DEFB107A,DEFB104B,SPAG11A
poultney_13_ASD_discovery_controls-control05C45097
qPCR
Unknown
DEFB136,DEFB135,DEFB134
sanders_11_ASD_discovery_controls-11030.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11037.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11079.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11089.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11118.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11168.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11399.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11504.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11519.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11543.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Maternal
Simplex (quad)
NA
PINX1
sanders_11_ASD_discovery_controls-11716.s1
Maternal
Simplex (quad)
NA
MSRA
sanders_11_ASD_discovery_controls-11982.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11993.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12121.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12339.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12366.s1
Paternal
Simplex (quad)
NA
MCPH1,MCPH1-AS1
sanders_11_ASD_discovery_controls-12382.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12626.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12628.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12637.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12715.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12930.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13089.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13266.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available