1q44CNV Type: Deletion-Duplication
Largest CNV size: 1464677 bp
Statistics Box:
Number of Reports: 59
Number of Reports: 59
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Deletion
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Clinical report of a 17q12 microdeletion with additionally unreported clinical features.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
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.
Deletion
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.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
601383
0
1
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
354735
1
0
1
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
1849373
4
0
4
bucan_09_ASD_discovery_cases
Individuals from 912 multiplex families (AGRE cohort)
3832
ASD
1464677
3
0
3
bucan_09_ASD_replication_cases
Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
859
828 diagnosed with autism, 31 with other ASDs
Range, 2-21
81.8% Male
44643
1
0
1
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
80525
15
0
15
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
1399902
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
80525
5
0
5
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
90200
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
450000
1
1
2
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
1155717
13
5
18
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
731542
2
0
2
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
577691
2
0
2
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
62857
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
1628572
77
2
79
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
1203974
1
0
1
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
1330000
2
0
2
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
708547
62
2
64
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
661130
0
1
1
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
48021
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
2825742
1
0
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
1453206
1
0
1
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
5162737
11
2
13
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
1000000
0
2
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
192179
1
3
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1394812
11
7
18
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
46759
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
3100000
2
1
3
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
89000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1452679
2
0
2
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
227255
1
1
2
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
1445953
0
2
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
522000
2
2
4
mak_17_ASD_discovery_cases
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
258
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Range, 1.5-25 years
83.33% Male
2400000
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
662489
0
2
2
massier_24_ASD/ADHD/DD/ID_discovery_cases
Individuals from a French cohort of 27 families with a 3q29 duplication identified by CMA recruited from 14 French genetic centers from December 2018 to October 2022.
39
The most frequently observed neurodevelopmental phentoypes in this cohort were developmental delay, learning disability, intellectual disability, and behavioral disorders, including autism spectrum disorder and ADHD.
Range, fetus-adulthood
43.59% Male
3095696
2
0
2
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
2150000
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
531654
0
2
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
3185557
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
57633
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
227546
1
1
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
112846
0
1
1
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)
504918
0
6
6
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
1842019
3
4
7
roberts_14_ASD/ID/ADHD/OCD_discovery_cases
17-year-old male proband of Caucasian descent
1
Diagnoses of autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and obsessive compulsve behavior (OCD); diagnostic tools N/A. Additional diagnosis of intellectual disability (ID; full scale IQ of 66 using Wechsler Intelligence Scale for Children-IV)
17 yrs.
Male
128963
1
0
1
rooney_23_DD/ID_discovery_cases
Individuals with de novo 1q44 microdeletions affecting the HNRNPU gene from an initial cohort of 10 individuals with HNRNPU variants.
3
All three cases presented with developmental delay (DD) and intellectual disability (ID); two cases also presented with epilepsy, while one case also presented with autistic features.
Range, 20-31 yrs.
Male
2132549
2
0
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
946070
0
2
2
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
5240818
3
6
9
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
1449572
66
15
81
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
328000
0
1
1
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
2584000
1
0
1
siu_16_ASD_discovery_cases
41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T
68
Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.
Range, 2-33 yrs. (median age of 25 yrs.)
88.23% Male
610000
0
1
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
107000
2
0
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
speevak_11_DD_discovery_cases
Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
1
Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
4.5 yrs.
Male
45500
1
0
1
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
44360
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)
1640000
1
0
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
63004
1
0
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
912
1
0
1
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
343115
0
1
1
yuen_16_ASD_discovery_cases
Cases from unrelated trio families from a cohort of Canadian ASD families
200
Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
N/A
N/A
1849400
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
4422000
2
2
4
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
354735
1
0
1
bucan_09_ASD_discovery_controls
1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
1488
Controls
1464677
0
0
0
bucan_09_ASD_replication_controls
Children of Caucasian ancestry with no history of ASDs (CHOP)
1051
Controls
1464677
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
770871
8
12
20
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
120202
59
0
59
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1203974
NA
NA
NA
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
191743
45
2
47
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
661130
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
43984
4
0
4
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
892475
1
3
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1394812
4
7
11
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
214830
1
0
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
1452679
2
2
4
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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.
37153
0
1
1
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)
214847
1
0
1
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)
1842019
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.
1452647
51
12
63
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
107000
1
0
1
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
40333
1
0
1
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
912
0
0
0
yuen_16_ASD_discovery_controls
CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
N/A
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bucan_09_ASD_discovery_cases
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
bucan_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
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
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
gai_11_ASD_discovery_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_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
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
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
aCGH
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
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
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mak_17_ASD_discovery_cases
Chinese
aCGH
NimbleGen CGX-135K or Agilent-CGX 60K
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
massier_24_ASD/ADHD/DD/ID_discovery_cases
France
CMA
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
roberts_14_ASD/ID/ADHD/OCD_discovery_cases
Caucasian
aCGH, array SNP
Ambry CMA 400K CGH + SNP array (300K aCGH probes, 100K SNP probes)
BioDiscovery Nexus
FISH
rooney_23_DD/ID_discovery_cases
NA
CMA
NA
NA
NA
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
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
siu_16_ASD_discovery_cases
Hong Kong
aCGH
NimbleGen CGX-135K
DEVA, Genoglyphix
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
speevak_11_DD_discovery_cases
NA
aCGH
CytoChip 105K array
BlueFuse Multi
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
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
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
yuen_16_ASD_discovery_cases
Canada
N/A
High-resolution microarray platform
Segseq, ERDS
qPCR, Sanger sequencing
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
bucan_09_ASD_discovery_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
bucan_09_ASD_replication_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
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
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
None
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_16_ASD_discovery_controls
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case197
4.33 yrs.
M
Developmental delay
Impaired language development, repetitive and restrictive behaviour. Growth parameters: height 1.11 m, weight 18 kg, head circumference 52 cm. Family history: no data on familial consanguinity.
247156187
247757569
601383
GRCh38
Duplication
No
brandler_18_ASD_discovery_cases-caseSSC02060
N/A
M
ASD
Case from SSC_phase1 cohort
245219926
245574661
354736
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case1-0451-003
N/A
M
ASD
Case from MSSNG cohort
245589661
245597514
7854
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case1-0454-003
N/A
M
ASD
Case from MSSNG cohort
244763099
246612471
1849373
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU072004
N/A
M
ASD
Case from MSSNG cohort
245233785
245238936
5152
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU072005
N/A
F
ASD
Case from MSSNG cohort
245233785
245238936
5152
GRCh38
Deletion
No
bucan_09_ASD_discovery_cases-patient5
NA
ASD
NA
NA
577691
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient6
NA
ASD
NA
NA
1464677
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient2
NA
ASD
NA
NA
44643
Unknown
Deletion
Yes
chehbani_22_ASD_discovery_cases-case11
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248592913
248622261
29349
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case28
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248564627
248622261
57635
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case32
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248575596
248622261
46666
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case33
NA
M
ASD and ADHD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with ADHD.
248564627
248622261
57635
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case39
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248564627
248622261
57635
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case43
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248564627
248645151
80525
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case46
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248564627
248645151
80525
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case5
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 epilepsy and developmental regression.
Intellectual disability.
248575596
248622261
46666
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case53
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248564627
248645151
80525
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case6
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248575596
248645151
69556
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case67
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248564627
248622261
57635
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case80
NA
M
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 epilepsy and developmental regression.
Intellectual disability.
248564627
248645151
80525
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case84
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248575596
248622261
46666
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case85
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248564627
248645151
80525
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case97
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
248575596
248622261
46666
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP109
NA
M
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech and motor regression, food selectivity, aggressive behavior.
246568209
247968110
1399902
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case302
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
248564627
248645151
80525
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case380
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
248564627
248622261
57635
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case383
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
248564627
248645151
80525
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case434
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
248564627
248622261
57635
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case437
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
248575596
248622261
46666
GRCh38
Deletion
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).
248562687
248652887
90201
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299918
N/A
M
Developmental delay/intellectual disability
246012737
246463052
450316
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300140
N/A
F
Developmental delay/intellectual disability
244364513
244593450
228938
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1153_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
247991752
248057652
65901
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13010_123
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
248482273
248697340
215068
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13047_563
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
245806336
246962053
1155718
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14074_1280
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
247363315
247396065
32751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14161_2640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
247361137
247398930
37794
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14331_4450
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
245494363
245531430
37068
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14413_5220
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
247991752
248051962
60211
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20070_1331001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
248174410
248511921
337512
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2265_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
245957474
246622146
664673
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3377_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
246676921
246706991
30071
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3378_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
248397440
248582901
185462
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3495_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
247991752
248051962
60211
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4167_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
247208616
247243129
34514
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4244_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
248832626
248928274
95649
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4249_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
245379557
245412079
32523
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4371_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
246727917
246849422
121506
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5542_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
244046560
244274105
227546
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6374_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
248450347
248723764
273418
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0034714
N/A
M
ASD
Family history: mother presents with depression and ADHD.
247895587
248627129
731543
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0036458
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
248179986
248593394
413409
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0995303
Autism
247372233
247396065
23833
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1368303
Autism
245928139
246505829
577691
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case676-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
246098601
246161458
62858
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si10
7
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 103; Non-verbal IQ, 100.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si100
17
M
Autism
ADOS score: 7. Vineland composite score: 83.
Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 33; Non-verbal IQ, 63.
248547045
248631326
84282
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si101
7
M
Autism
ADOS score: 7. Vineland composite score: 66.
Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si113
8
F
Autism
ADOS score: 6. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 81; Non-verbal IQ, 84.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si115
12
F
Autism
ADOS score: 7. Vineland composite score: 61.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 31; Non-verbal IQ, 45.
248524195
248631695
107501
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si118
11
M
Autism
ADOS score: 8. Vineland composite score: 63.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 56; Non-verbal IQ, 76.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si133
12
F
Autism
ADOS score: 9. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si138
9
M
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
247231740
248667247
1435508
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si138
9
M
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
247185380
248783055
1597676
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si142
6
M
Autism
ADOS score: 4. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
248547045
248652047
105003
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si152
12
M
Autism
ADOS score: 9. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si153
10
M
Autism
ADOS score: 10. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 74; Non-verbal IQ, 103.
248547045
248718969
171925
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si163
8
M
Autism
ADOS score: 7. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
248525267
248631695
106429
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si164
8
M
Autism
ADOS score: 9. Vineland composite score: 59.
Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 22; Non-verbal IQ, 43.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si165
14
M
Autism
ADOS score: 8. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 98; Non-verbal IQ, 127.
248524195
248631695
107501
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si174
9
M
Autism
ADOS score: 7. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
248525267
248631695
106429
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si176
14
M
Autism
ADOS score: 9. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 20; Non-verbal IQ, 29.
248581621
248631695
50075
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si178
7
M
Autism
ADOS score: 9. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
248524195
248718969
194775
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si18
13
M
Autism
ADOS score: 9. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 106; Non-verbal IQ, 91.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si191
12
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 108; Non-verbal IQ, 102.
248525267
248664300
139034
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si192
7
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
248424142
248525267
101126
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si194
9
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si195
12
M
Autism
ADOS score: 10. Vineland composite score: 58.
Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 26; Non-verbal IQ, 45.
248568425
248631326
62902
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si197
15
M
Autism
ADOS score: 9. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si2
11
F
Autism
ADOS score: 8. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 95; Non-verbal IQ, 81.
248568425
248631695
63271
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si200
10
M
Autism
ADOS score: 8. Vineland composite score: 91.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si203
7
M
Autism
ADOS score: 7. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 71; Verbal IQ, 73; Non-verbal IQ, 75.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si204
9
M
Autism
ADOS score: 7. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 43; Non-verbal IQ, 44.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si207
7
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si208
14
M
Autism
ADOS score: 4. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 84; Non-verbal IQ, 132.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si209
13
M
Autism
ADOS score: 6. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si224
11
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si226
12
M
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
248547045
248652047
105003
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si231
9
M
Autism
ADOS score: 6. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 111; Non-verbal IQ, 117.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si233
10
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si234
13
M
Autism
ADOS score: 8. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 133; Verbal IQ, 121; Non-verbal IQ, 132.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si238
10
M
Autism
ADOS score: 8. Vineland composite score: 71.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si241
13
M
Autism
ADOS score: 8. Vineland composite score: 61.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 67; Non-verbal IQ, 56.
248524165
248631695
107531
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si244
17
M
Autism
ADOS score: 9. Vineland composite score: 58.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si245
10
M
Autism
ADOS score: 6. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si251
16
M
Autism
ADOS score: 10. Vineland composite score: 59.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 31; Non-verbal IQ, 89.
248524195
248631695
107501
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si26
8
M
Autism
ADOS score: 6. Vineland composite score: 92.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 106; Non-verbal IQ, 109.
248568425
248718969
150545
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si267
11
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 91; Non-verbal IQ, 89.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si27
17
M
Autism
ADOS score: 7. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 93; Non-verbal IQ, 110.
248568425
248718969
150545
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si276
10
M
Autism
ADOS score: 8. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 79; Non-verbal IQ, 98.
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si280
15
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 84; Non-verbal IQ, 83.
248576322
248628171
51850
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si287
9
M
Autism
ADOS score: 8. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 40; Non-verbal IQ, 74.
248547045
248631251
84207
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si289
9
M
Autism
ADOS score: 7. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 88; Non-verbal IQ, 91.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si29
8
F
Autism
ADOS score: 6. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 105; Non-verbal IQ, 111.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si291
10
M
Autism
ADOS score: 4. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 110; Non-verbal IQ, 86.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si3
8
M
Autism
ADOS score: 10. Vineland composite score: 110.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si323
15
M
Autism
ADOS score: 10. Vineland composite score: 56.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
248576322
248631326
55005
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si325
9
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 66; Verbal IQ, 58; Non-verbal IQ, 75.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si339
8
M
Autism
ADOS score: 8. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 91; Non-verbal IQ, 95.
248592082
248667247
75166
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si344
15
M
Autism
ADOS score: 6. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 28; Non-verbal IQ, 33.
248581621
248631695
50075
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si345
13
M
Autism
ADOS score: 9. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 86; Non-verbal IQ, 87.
248522270
248631251
108982
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si346
9
M
Autism
ADOS score: 10. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.
248576322
248631251
54930
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si36
9
M
Autism
ADOS score: 6. Vineland composite score: 66.
Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 40; Non-verbal IQ, 87.
248547045
248667247
120203
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si40
16
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 82; Non-verbal IQ, 77.
248525267
248718969
193703
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si41
10
F
Autism
ADOS score: 10. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 83; Non-verbal IQ, 54.
248568425
248631326
62902
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si47
7
M
Autism
ADOS score: 7. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 56; Non-verbal IQ, 89.
248547045
248718969
171925
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si5
8
M
Autism
ADOS score: 8. Vineland composite score: 63.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 92; Non-verbal IQ, 81.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si55
18
M
Autism
ADOS score: 8. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 86; Non-verbal IQ, 92.
248547045
248631326
84282
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si56
15
M
Autism
ADOS score: 7. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.
248547045
248631251
84207
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si6
7
M
Autism
ADOS score: 8. Vineland composite score: 79.
Mild mental retardation/intellectual disability. Full-scale IQ, 70; Verbal IQ, 62; Non-verbal IQ, 79.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si66
9
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si69
6
M
Autism
ADOS score: 5. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si7
17
M
Autism
ADOS score: NA. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 73.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si72
17
M
Autism
ADOS score: 5. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 89; Non-verbal IQ, 102.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si73
16
M
Autism
ADOS score: 9. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 83; Non-verbal IQ, 108.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si75
10
M
Autism
ADOS score: 5. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 84; Non-verbal IQ, 90.
248547045
248718969
171925
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si81
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 38; Non-verbal IQ, 73.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si83
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.
248547045
248652047
105003
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si85
13
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 81; Non-verbal IQ, 101.
248568425
248631695
63271
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si89
17
M
Autism
ADOS score: 10. Vineland composite score: 60.
Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 32; Non-verbal IQ, 62.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si9
9
M
Autism
ADOS score: 4. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 64; Non-verbal IQ, 100.
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si91
11
F
Autism
ADOS score: 8. Vineland composite score: 64.
Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 36; Non-verbal IQ, 36.
248525267
248631251
105985
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case26112
9 yrs. 3 mos.
F
Intellectual disability
Normal tone. Mild hearing loss. Dysmorphic features: short philtrum, full lips. Growth parameters: weight 75th %ile, height 75th %ile, OFC -1.1 SD. Family history: 2 half-siblings (not tested) with ADHD and behavioral problems.
Mild ID (IQ 56)
247756005
248929082
1173078
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11161.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
247230075
248560076
1330002
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11301.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
245220075
245570075
350001
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-12308109510
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-15910112885
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
245916001
246624548
708548
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-15910112885
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-16708109743
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-17609111227
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20005103253
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
248576322
248631695
55374
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20207108119
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21707108167
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21907108174
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-23204100689
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-23807108268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248574898
248664300
89403
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-2408108893
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-24609111458
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25504100812
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248568425
248631695
63271
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25505102977
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-26107108401
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
248453073
248631326
178254
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-26507108418
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29007108475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29008110245
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29806106231
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29908110268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3007107649
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-30208110271
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-30408110274
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3309110754
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-34009111760
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3407107669
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-34806106495
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3508108947
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-36006106625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248568425
248631695
63271
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-36805104915
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248524462
248631695
107234
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-38209111900
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-41206106842
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248652047
105003
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-41606106664
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248652047
105003
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-42805103614
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47306107043
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47604101025
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248525267
248631251
105985
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47906107057
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-48804101682
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-48904101700
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-49906107136
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-50205104237
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-50604101832
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-51604101884
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-52104101908
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631251
84207
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-53205104341
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-55004102321
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-55605104444
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631251
84207
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-5603100206
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-56104101183
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
248524462
248631695
107234
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-5703100214
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60104102183
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-6208109266
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-62104102284
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-65004102035
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248581621
248631695
50075
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-6503100309
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248574898
248667247
92350
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-67305104727
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-708108819
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8505102895
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248574898
248667247
92350
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8605102932
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
248524462
248652047
127586
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9106105625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9605102926
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9907107878
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
gregory_09_ASD_discovery_cases-200309368
NA
ASD
NA
NA
245780701
246441831
661131
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseY11
4 yrs. 3 mos.
F
ASD
248585892
248633912
48021
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case53
6 yrs.
F
Developmental delay
Speech delay, microcephaly, cleft palate, facial dysmorphisms.
Developmental delay
246261577
248946422
2684846
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI2615
NA
NA
Autism
NA
NA
246454612
247907818
1453207
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000923
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
243677224
244923447
1246224
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001131
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
247682931
248609256
926326
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
246031245
247245758
1214514
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003812
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
243786629
248918469
5131841
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003827
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
245584222
248918610
3334389
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003901
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
244692061
245647727
955667
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004118
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
244582123
245762379
1180257
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004237
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
244498870
248918610
4419741
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004306
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
243786629
248918469
5131841
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004484
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
244222222
245502219
1279998
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004491
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
247092432
248918469
1826038
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004586
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
244222222
246492114
2269893
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005380
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
246386899
248918469
2531571
GRCh38
Deletion
Yes
kim_18_DD/ID_discovery_cases-case22
15 yrs.
F
Intellectual disabilty
Dysmorphic features, short stature, microcephaly. Sister of patient 23 in this report.
Severe intellectual disability
247412465
248476185
1063721
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case23
13 yrs. 8 mos.
F
Intellectual disabilty and autism
Autism, dysmorphic features, short stature, microcephaly. Sister of patient 22 in this report.
Severe intellectual disability
247421061
248497504
1076444
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case11301.p1
N/A
M
ASD
ASD proband from SSC quad family 11301. SRS score of 82.
Full-scale IQ (FSIQ) score of 101.
245366833
245559012
192180
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12308.p1
N/A
F
ASD
ASD proband from SSC quad family 12308. SRS score of 90.
Full-scale IQ (FSIQ) score of 105.
244863616
244970443
106828
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12463.p1
N/A
M
ASD
ASD proband from SSC quad family 12463. SRS score of 83.
Full-scale IQ (FSIQ) score of 84.
247435969
247606515
170547
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12463.p1
N/A
M
ASD
ASD proband from SSC quad family 12463. SRS score of 83.
Full-scale IQ (FSIQ) score of 84.
247860616
247949796
89181
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11090.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627130
34302
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11141.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
248856287
248918365
62079
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11154.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11161.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
247256071
248650884
1394814
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11301.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
245366833
245559012
192180
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11331.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
248814448
248918363
103916
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11550.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11630.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11810.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12033.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
244436824
244640081
203258
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12044.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
245540766
245611976
71211
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12056.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
246986966
247157217
170252
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12295.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12327.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12435.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12463.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
247443971
247606515
162545
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12736.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
248592829
248627128
34300
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13351.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
244477540
244686669
209130
GRCh38
Duplication
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
248582901
248629659
46759
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU0951302
N/A
N/A
ASD
246445510
247910186
1464677
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1368303
N/A
M
ASD
247698698
248275698
577001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1626301
N/A
M
ASD
245187698
248317698
3130001
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-case3-19
NA
F
Epilepsy
Phenotype: LKS-wiESES. Seizure Characteristics: Myoclonic, atonic. Autistic features: No. ADHD features: No. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Neuropsychiatric evaluation at 4 years of age: -2 SD of mean.
245157676
245246752
89077
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11161.p1
NA
M
ASD
NA
NA
247221823
248674502
1452680
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12674.p1
NA
M
ASD
NA
NA
243582239
243634919
52681
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
248585893
248633912
48020
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.
248620513
248816869
196357
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case15
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
247670823
248525016
854194
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case94
NA
M
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
247225847
248671799
1445953
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown107
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
244755075
245277075
522001
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown108
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
246187376
246330444
143069
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown109
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
246187376
246330444
143069
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown110
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
246973509
247063047
89539
GRCh38
Duplication
No
mak_17_ASD_discovery_cases-case5
26 mos.
F
ASD
ASD; unbalanced translocation t(1;8)
246644038
248913906
2269869
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0016-000
NA
F
ASD
NA
NA
246682669
246811713
129045
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0229-003
NA
M
ASD
NA
NA
245961657
246624146
662490
GRCh38
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P25
10 yrs.
F
ADHD and learning disability
ADHD, atrial septal defect
Learning disabilities
245822774
248918469
3095696
GRCh38
Deletion
No
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P26
Adult
F
Learning disability
Learning disabilities
245822774
248918469
3095696
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530437
F
MCA
Abnormal cardiovascular system morphology (HP:0030680), abnormal facial shape (HP:0001999).
244134588
246284587
2150000
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case124504
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis ADHD; sibling diagnosis unaffected.
246926904
247249782
322879
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case124504
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis ADHD; sibling diagnosis unaffected.
246006864
246538517
531654
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253729
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Developmental delay/intellectual disability
245863809
248918469
3054661
GRCh38
Deletion
N/A
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
248564628
248622261
57634
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1153_4
NA
M
ASD
NA
NA
247991752
248057652
65901
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5542_3
NA
M
ASD
NA
NA
244046560
244274105
227546
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case9770_201
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
248259886
248372732
112847
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1663A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
247948856
248453774
504919
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2679A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1048301; NDAR ID NDAR_INVJN439XXT)
248452796
248574759
121964
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2831A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0980306; NDAR ID NDAR_INVBF960AW1)
248099374
248295580
196207
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
246986967
247159815
172849
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
246986967
247159815
172849
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
246986967
247159815
172849
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115731L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
244191030
244851475
660446
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case117388L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
244794218
244801933
7716
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case122686L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
242281134
242510133
229000
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case130607
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
242999710
244841728
1842019
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case51524
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
244960959
245037995
77037
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85907
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
244434455
244453810
19356
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case92812
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
243751989
243760861
8873
Unknown
Deletion
No
roberts_14_ASD/ID/ADHD/OCD_discovery_cases-case1
17 yrs.
M
ASD, ID, ADHD, and OCD
Case originally diagnosed with autism spectrum disorder at age of 10 years (diagnostic tools N/A); follow-up diagnoses of ADHD, OCD, and ASD made by a psychiatrist at age of 15 years (diagnostic tools N/A). Birth/neonatal history: 32-week gestation complicated by preeclampsia and maternal uterien fibroids with delivery by C-section; birth weight of 1134 kg (3rd %ile) and length of 44.45 cm (70th %ile); 8-week NICU stay with no reported respiratory difficulties; released home on apnea monitor for 8 weeks with no reported apnea spells. Developmental milestones: nonverbal until age of 4 years; significant delays in gross and fine motor skills and social skills. Motor and musculoskeletal evaluation: marfanoid habitus, mild pectus deformity, pes cavus, hypermobile small joints, long fingers, mild scoliosis. Behavioral/psychiatric evaluation: behavioral problems including irritability, physical aggression, impulsivity, and tantrums (particularly when routines were disrupted); decreased sensitivity to pain. Epilepsy/seizures: no history of seizures. EEG: normal EEG at age of 15 years. Brain imaging: normal brain CT at age of 15 years with focal ossification noted along dura of the left superior sagittal sinus. Hearing and vision: normal. Cardiac evaluation: yearly echocardiograms due to marfanoid body habitus, early evidence of aortic root enlargement. Additional medical history: previous surgeries include removal of dermoid cyst from bridge of nose (age of 2 years) and partial right medial meniscetomy following meniscus tear; history of mildly elevated glucose levels from age of 12 to 17 years, insulin and hemoglobin AIC levels within normal limits; small but otherwise normal pancreas with mild splenomegaly and 1.3 cm accessory splenule found on abdominal ultrasound; no renal abnormalities. Dysmorphic features: long- and narrow-appearing face, bilateral ptosis, relative hypertelorism, small chin, high narrow palate, widely-spaced nipples. Growth parameters: height of 184 cm (89th %ile), weight of 60.4 kg (34th %ile), and head circumference of 57 cm (75th %ile) at age of 17 years. Family history: parents were 40 years old and mother was gravida 3, para 0 at time of conception; father was clinically unaffected. Additional genetic evaluation: normal karyotype (46, XY); normal Marfan, aneurysm and related disorders DNA panel.
Intellectual disability; full scale IQ of 66 (Wechsler Intelligence Scale for Children-IV)
247021758
247150720
128963
GRCh38
Deletion
Yes
rooney_23_DD/ID_discovery_cases-case2
31 yrs.
M
Developmental delay, intellectual disability, epilepsy, and autistic features
Birth/neonatal history:. intrauterine growth retardation. Developmental milestones: developmental delay, motor delay, language delay. Motor and musculoskeletal evaluation: hypotonia, dysmorphic limbs/hands, leg length discrepancy. Behavioral/psychiatric evaluation: behavioral abnormalities (autistic features). Epilepsy/seizures: yes. Brain imaging: brain MRI abnormalities (hydrocephalus, periventricular cyst). Additional medical history: feeding difficulties. Dysmorphic features: craniofacial dysmorphism (deeply-set eyes, dental anomalies, cutaneous anomalies). Growth parameters: macrocephaly. ClinVar SCV code SCV002774884.
Intellectual disability
244854449
244872510
18062
GRCh38
Deletion
No
rooney_23_DD/ID_discovery_cases-case6
28 yrs.
M
Developmental delay, intellectual disability, and epilepsy
Developmental milestones: profound global developmental delay, motor delay, language delay (absent speech). Motor and musculoskeletal evaluation: hypotonia (neonatal hypotonia), pectus carinatum, kyphoscoliosis, slow gait. Epilepsy/seizures: febrile seizures at 15 months, ggeneralized tonic-clonic epilepsy. Additional medical history: cryptorchidism. Dysmorphic features: craniofacial dysmorphism (bulbous nasal tip, anteverted nares, dental anomalies). ClinVar SCV code SCV002774890.
Intellectual disability
244408672
246541220
2132549
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case5595
NA
NA
ASD
NA
NA
245985930
246932000
946070
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case7035
NA
NA
ASD
NA
NA
245985930
246932000
946070
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
N/A
F
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
243715201
248925121
5209921
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
246570568
246695880
125313
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
243910328
245299473
1389146
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
246776641
246829396
52756
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-3A
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: unknown.
246570568
246680013
109446
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes. Patient also carried a maternally-inherited nonsense variant in the NDE1 gene.
Developmental delay: yes. Intellectual disability: yes.
247208616
247243129
34514
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-016a1
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
248860368
248925121
64754
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-400
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
247337348
247620588
283241
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-439
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
248671697
248719604
47908
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11002.p1
7.7
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11008.p1
15.3
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
247762507
247815017
52511
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11031.p1
13.8
M
Aspergers
NA
Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
245807248
245816055
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11039.p1
6.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
245178515
245203360
24846
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
246591822
246603133
11312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
247222575
248672148
1449574
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11218.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
245477265
245484424
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11241.p1
12
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
248438761
248482280
43520
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11254.p1
9.8
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
245224847
245574470
349624
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
248817485
248870676
53192
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11370.p1
14.6
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
248438761
248505898
67138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
246201290
246226788
25499
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11401.p1
7.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 93
243759942
243802291
42350
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
245472757
245484424
11668
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
248438761
248478926
40166
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11720.p1
8
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
247173424
247177482
4059
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11881.p1
9.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
244349048
244371722
22675
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
248444205
248478926
34722
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
247991752
248051962
60211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11979.p1
7.5
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12025.p1
6.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 96; verbal IQ, 69
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
244423999
244660890
236892
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
245425857
245613020
187164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12062.p1
9.9
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 126; verbal IQ, 120
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
248444205
248511921
67717
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
248444205
248500678
56474
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12306.p1
8.4
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12316.p1
12.5
M
ASD
NA
Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
246591822
246603133
11312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
245477265
245484424
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12376.p1
12.2
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
248671697
248744377
72681
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12463.p1
9.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
247435768
247659219
223452
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12463.p1
9.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
247856506
247954114
97609
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12501.p1
5.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12565.p1
10.6
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
247991752
248059569
67818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
246208842
246222832
13991
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12629.p1
4.1
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
245473737
245484424
10688
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
245473737
245484424
10688
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
246591822
246603133
11312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12655.p1
8.9
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
245477265
245484424
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
243584056
243635055
51000
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12685.p1
16
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 99; verbal IQ, 102
245807248
245823559
16312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
245010158
245016658
6501
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12740.p1
4.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12759.p1
8.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
245796093
245851031
54939
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
248077810
248114336
36527
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12829.p1
11.4
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 134; verbal IQ, 117
244121192
244127946
6755
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
248086593
248272529
185937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12907.p1
13.8
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
247967734
247978747
11014
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
248323611
248333561
9951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
248077810
248110253
32444
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
245473737
245484424
10688
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
247742363
247742535
173
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13082.p1
6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
246591822
246611298
19477
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
245473737
245490690
16954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13146.p1
10.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
248341634
248711884
370251
GRCh38
Duplication
No
schuch_19_ASD_discovery_cases-case2
N/A
F
ASD
PDD-NOS, seizures, psychomotor agitation, self-injurious behavior, echolalia, mood instability, sleep disturbance.
247549169
247877214
328046
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case1
1 yr.
M
DD and seizures
Developmental delay, seizures, bilateral pes planovalgus, cleft palate, simian crease on left hand, unilateral cryptorchidism (right side)
244769976
247354497
2584522
GRCh38
Deletion
No
siu_16_ASD_discovery_cases-patient10
Adult (22-33 yrs.)
M
ASD
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. No additional clinical features reported.
IQ of 85 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
246244719
246857496
612778
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseBAK43
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
248525285
248631976
106692
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN24
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
248525270
248631976
106707
GRCh38
Deletion
No
speevak_11_DD_discovery_cases-case1
4.5 yrs.
M
Developmental delay/speech delay
Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
248576679
248622232
45554
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family23_Twin_2
N/A
M
ASD and intellectual disability
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group (monozygotic male pair concordant for ASD and ID and discordant for tic disorder)
244834651
244879010
44360
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case5
11 yrs.
M
ASD + Epilepsy
Craniofacial dysmorphism typical of 1q44 microdeletion syndrome, seizures, scoliosis, trident hand, speech delay, atrophy of the right hippocampus, ASD
244656388
246295622
1639235
GRCh38
Deletion
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)
248564628
248627631
63004
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case51
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
245796093
245797004
912
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma02081s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
248179735
248522849
343115
GRCh38
Duplication
No
yuen_16_ASD_discovery_cases-sample1-0454-003
N/A
N/A
ASD
Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
244763099
246612498
1849400
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0242-003
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: milk intolerance. Additional genetic information: 46,XY,der(22)t(1;22)(q44;q13.33)pat.
244630698
248919801
4289104
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-0242-004
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: seasonal allergies and milk intolerance. Additional genetic information: 46,XY,der(1)t(1;22)(q44;q13.33)pat.
244628698
248919801
4291104
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0242-005
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: seasonal allergies, severe egg allergy and milk intolerance; cortical displacia. Additional genetic information: 46,XY,der(1)t(1;22)(q44;q13.33)pat.
244628698
248919801
4291104
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1170-003
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: asthma
248767801
248915801
148001
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC02067
N/A
F
Control
Control from SSC_phase1 cohort
245219926
245574661
354736
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036006450_
N/A
N/A
Control
No previous psychiatric history
248576215
248774991
198777
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036015915_
N/A
N/A
Control
No previous psychiatric history
246871729
247247752
376024
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036020485_
N/A
N/A
Control
No previous psychiatric history
246006785
246540837
534053
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB233337_1007875219
N/A
N/A
Control
No previous psychiatric history
246402543
246473298
70756
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB254785_1007854051
N/A
N/A
Control
No previous psychiatric history
248680428
248744377
63950
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
N/A
N/A
Control
No previous psychiatric history
245473737
245504830
31094
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB431683_1007874676
N/A
N/A
Control
No previous psychiatric history
243759942
243813535
53594
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
N/A
N/A
Control
No previous psychiatric history
248081901
248272529
190629
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
N/A
N/A
Control
No previous psychiatric history
248471209
248638700
167492
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB655399_1007854025
N/A
N/A
Control
No previous psychiatric history
247742363
247780934
38572
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB765566_1007872601
N/A
N/A
Control
No previous psychiatric history
245920587
245965107
44521
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB830766_1007854715
N/A
N/A
Control
No previous psychiatric history
248768195
248832774
64580
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB874415_1007853863
N/A
N/A
Control
No previous psychiatric history
248174410
248510880
336471
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
N/A
N/A
Control
No previous psychiatric history
245726031
245829061
103031
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
N/A
N/A
Control
No previous psychiatric history
245627460
245677107
49648
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
N/A
N/A
Control
No previous psychiatric history
245836536
246607407
770872
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
N/A
N/A
Control
No previous psychiatric history
248341634
248710358
368725
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900249_900249
N/A
N/A
Control
No previous psychiatric history
247645950
247762088
116139
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
N/A
N/A
Control
No previous psychiatric history
248081418
248271951
190534
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901209_901209
N/A
N/A
Control
No previous psychiatric history
247991752
248051962
60211
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_101
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_107
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_108
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_113
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_117
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_119
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_120
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_130
NA
NA
Control
NA
NA
248576322
248631695
55374
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_138
NA
NA
Control
NA
NA
248547045
248631326
84282
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_142
NA
NA
Control
NA
NA
248547045
248629861
82817
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_147
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_150
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_165
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_167
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_168
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_175
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_177
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_186
NA
NA
Control
NA
NA
248547045
248664300
117256
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_188
NA
NA
Control
NA
NA
248576322
248631326
55005
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_193
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_197
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_205
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_210
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_212
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_216
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_219
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_221
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_222
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_225
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_228
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_24
NA
NA
Control
NA
NA
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_243
NA
NA
Control
NA
NA
248547045
248667247
120203
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_250
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_252
NA
NA
Control
NA
NA
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_255
NA
NA
Control
NA
NA
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_263
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_267
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_273
NA
NA
Control
NA
NA
248582372
248667247
84876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_275
NA
NA
Control
NA
NA
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_278
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_279
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_280
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_29
NA
NA
Control
NA
NA
248585430
248652047
66618
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_290
NA
NA
Control
NA
NA
248568425
248631695
63271
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_292
NA
NA
Control
NA
NA
248574898
248631251
56354
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_302
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_303
NA
NA
Control
NA
NA
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_320
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_51
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_62
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_71
NA
NA
Control
NA
NA
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_77
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_78
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_80
NA
NA
Control
NA
NA
248547045
248631695
84651
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_90
NA
NA
Control
NA
NA
248547045
248631326
84282
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_95
NA
NA
Control
NA
NA
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_99
NA
NA
Control
NA
NA
248547045
248652047
105003
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11510113081
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11607107933
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11806105859
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-14403100350
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1506105511
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-16503100409
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-18808109853
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248576322
248631695
55374
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-20308109922
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248718969
171925
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-25306106253
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-26109111483
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-27909111544
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248576322
248631695
55374
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-28409111558
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30705103901
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248652047
105003
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3106105582
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-31207108545
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248568425
248631695
63271
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-32208110333
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-32508110343
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248524195
248631695
107501
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3306105584
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248576322
248631695
55374
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-34306106585
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-34407108672
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248576322
248652047
75726
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37205104108
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
248574898
248667247
92350
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37506106691
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248576322
248652047
75726
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37706106741
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248576322
248631326
55005
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37904101339
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248524462
248631695
107234
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37906106748
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631326
84282
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-38308110558
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-39506106808
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248581621
248667247
85627
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40005104405
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
248525267
248664300
139034
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-41406106851
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-43806106913
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248568425
248652047
83623
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-45304101644
N/A
N/A
Control
Ethnicity: African American
N/A
248576322
248631695
55374
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-45706106971
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46806107025
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-49406107134
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-49604101726
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-53306107454
N/A
N/A
Control
Ethnicity: African American
N/A
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-55209112484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-56606107560
N/A
N/A
Control
Ethnicity: Asian
N/A
248524462
248631695
107234
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-59905104552
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-60105104570
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-66404102339
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-70505105438
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248574898
248631695
56798
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-7406105704
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248581621
248631695
50075
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-7907107797
N/A
N/A
Control
Ethnicity: Caucasian
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-8808109366
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248547045
248631695
84651
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9107107840
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
248568425
248631695
63271
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9306105749
N/A
N/A
Control
Ethnicity: Hispanic
N/A
248439952
248631695
191744
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1863
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
245637039
245647726
10688
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1882
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
245637039
245647726
10688
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split189
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
244244542
244288525
43984
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split549
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
245637039
245647726
10688
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11203.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11203. SRS score of 53.
246327200
246648052
320853
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control11301.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11301. SRS score of 44.
245366833
245559012
192180
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control11676.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11676. SRS score of 40.
246764245
246767300
3056
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control11797.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11797. SRS score of 51.
245749562
246642037
892476
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11161.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
247256071
248650884
1394814
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11172.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
248573800
248627130
53331
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11203.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
246327200
246648052
320853
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11301.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
245366833
245559012
192180
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11676.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
246764245
246767300
3056
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11797.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
245749562
246642037
892476
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12939.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
246999343
247039539
40197
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13575.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
246999347
247171877
172531
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13575.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
246327200
246355094
27895
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14221.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
245749562
245863886
114325
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14411.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
246876036
247101791
225756
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-controlPN400506
N/A
M
Control
Non-autism control
248238966
248453795
214830
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11161.s1
NA
F
Control
NA
NA
247221823
248674502
1452680
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11198.s1
NA
F
Control
NA
NA
246923992
247245889
321898
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11676.s1
NA
F
Control
NA
NA
246762318
246825399
63082
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12674.s1
NA
F
Control
NA
NA
243582239
243634919
52681
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27014
Control
247138784
247175936
37153
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C41778
N/A
M
Control
NIMH Control (NIMH ID 47544)
248238927
248453774
214848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11037.s1
6.5
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
245477265
245484424
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
245178515
245203360
24846
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11152.s1
8.8
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11161.s1
9.3
F
Control (matched sibling)
NA
NA
247222575
248675223
1452649
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
248450347
248495511
45165
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
246923930
247252597
328668
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
246004715
246535351
530637
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11203.s1
4
F
Control (matched sibling)
NA
NA
245954748
246650175
695428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11206.s1
8.3
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11218.s1
8.5
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11282.s1
8.8
M
Control (matched sibling)
NA
NA
245477265
245484424
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
245224847
245575940
351094
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
246246810
246252105
5296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
245477265
245484424
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
248103253
248186584
83332
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11676.s1
4.3
F
Control (matched sibling)
NA
NA
245472757
245484424
11668
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11676.s1
4.3
F
Control (matched sibling)
NA
NA
246763565
246815202
51638
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
247173424
247177482
4059
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
245719112
246641522
922411
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
248444205
248478926
34722
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
245477265
245484424
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
244429978
244659267
229290
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
248457822
248495511
37690
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
248444205
248495511
51307
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12366.s1
7.8
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12376.s1
14.7
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
248444205
248495511
51307
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
248671697
248744377
72681
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12501.s1
8.1
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12568.s1
15.7
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12617.s1
14.6
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12630.s1
8
F
Control (matched sibling)
NA
NA
247991752
248051962
60211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12647.s1
9.1
M
Control (matched sibling)
NA
NA
248645922
248652887
6966
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
243584056
243635609
51554
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
246591822
246603133
11312
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12764.s1
13.5
F
Control (matched sibling)
NA
NA
247372233
247396065
23833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
247116500
247128098
11599
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
245801209
245842496
41288
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
248081418
248287223
205806
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
246962053
247098200
136148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
247742363
247742535
173
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13042.s1
4.2
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13063.s1
4
F
Control (matched sibling)
NA
NA
245473737
245484424
10688
GRCh38
Deletion
No
soueid_16_ASD_discovery_controls-control6
N/A
N/A
Control
248525285
248631976
106692
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family30_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
246851442
246891774
40333
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case197
Unknown
OR2C3,OR2G3,OR2G2,ZNF496,OR14L1P,OR2B11,NLRP3,GCSAML,VN1R5,OR6F1,OR14K1,OR14A2,OR13G1,VN1R17P,OR3D1P,OR2W5P,ZNF731P,MIR3916,RNA5SP82,ZNF124,OR1C1
brandler_18_ASD_discovery_cases-caseSSC02060
PCR or SNP data validation
Paternal
DNAJC19P8,KIF26B-AS1,KIF26B
brandler_18_ASD_replication_cases-case1-0451-003
No validation step reported
Paternal
KIF26B
brandler_18_ASD_replication_cases-case1-0454-003
No validation step reported
De novo
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,KIF26B-AS1,CNST,COX20,HNRNPU,EFCAB2,TFB2M,KIF26B,SMYD3
brandler_18_ASD_replication_cases-caseAU072004
No validation step reported
Paternal
KIF26B-AS1,KIF26B
brandler_18_ASD_replication_cases-caseAU072005
No validation step reported
Paternal
KIF26B-AS1,KIF26B
bucan_09_ASD_discovery_cases-patient4
qPCR
Unknown
NA
NA
OR1C1
bucan_09_ASD_discovery_cases-patient5
qPCR
Unknown
NA
NA
OR1C1
bucan_09_ASD_discovery_cases-patient6
qPCR
Unknown
NA
NA
OR1C1
bucan_09_ASD_replication_cases-patient2
qPCR
Unknown
NA
NA
OR1C1
chehbani_22_ASD_discovery_cases-case11
Unknown
Simplex
OR2T10
chehbani_22_ASD_discovery_cases-case28
Unknown
Simplex
OR2T34,OR2T10
chehbani_22_ASD_discovery_cases-case32
Unknown
Simplex
OR2T10
chehbani_22_ASD_discovery_cases-case33
Unknown
Simplex
OR2T34,OR2T10
chehbani_22_ASD_discovery_cases-case39
Unknown
Simplex
OR2T34,OR2T10
chehbani_22_ASD_discovery_cases-case43
Unknown
Simplex
OR2T34,OR2T11,OR2T10,OR2T35
chehbani_22_ASD_discovery_cases-case46
Unknown
Simplex
OR2T34,OR2T11,OR2T10,OR2T35
chehbani_22_ASD_discovery_cases-case5
Unknown
Simplex
OR2T10
chehbani_22_ASD_discovery_cases-case53
Unknown
Simplex
OR2T34,OR2T11,OR2T10,OR2T35
chehbani_22_ASD_discovery_cases-case6
Unknown
Simplex
OR2T11,OR2T10,OR2T35
chehbani_22_ASD_discovery_cases-case67
Unknown
Simplex
OR2T34,OR2T10
chehbani_22_ASD_discovery_cases-case80
Unknown
Simplex
OR2T34,OR2T11,OR2T10,OR2T35
chehbani_22_ASD_discovery_cases-case84
Unknown
Simplex
OR2T10
chehbani_22_ASD_discovery_cases-case85
Unknown
Simplex
OR2T34,OR2T11,OR2T10,OR2T35
chehbani_22_ASD_discovery_cases-case97
Unknown
Simplex
OR2T10
costa_21_ASD_discovery_cases-caseP109
Unknown
SCCPDH,ZNF695,ZNF669,OR2C3,OR2G3,OR9H1P,OR6R1P,OR2G2,ZNF670,ZNF496,OR14L1P,OR2B11,OR2AJ1,NLRP3,LINC01341,HSD17B7P1,GCSAML,CNST,OR14A16,VN1R5,OR2W3,OR6F1,OR2T8,OR14K1,LINC02897,OR14A2,OR11L1,OR2AK2,OR2L8,OR2X1P,OR13G1,VN1R17P,OR3D1P,OR2W5P,ZNF731P,CLK3P2,KIF28P,RPL35AP6,FGFR3P6,MIR3916,ZNF670-ZNF695,RNA5SP82,ZNF124,TRIM58,OR1C1,AHCTF1
cucinotta_23_ASD_discovery_cases-case302
Maternal
OR2T34,OR2T11,OR2T10,OR2T35
cucinotta_23_ASD_discovery_cases-case380
Maternal
OR2T34,OR2T10
cucinotta_23_ASD_discovery_cases-case383
Paternal
OR2T34,OR2T11,OR2T10,OR2T35
cucinotta_23_ASD_discovery_cases-case434
Unknown
OR2T34,OR2T10
cucinotta_23_ASD_discovery_cases-case437
Unknown
OR2T10
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
digregorio_17_DD/ID_discovery_cases-DECIPHER_299918
Paternal
CHCHD4P5,RNU6-1283P,SMYD3-IT1,SMYD3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300140
Unknown
TGIF2P1,C1orf100,ADSS,CATSPERE
engchuan_15_ASD_discovery_cases-case1153_4
Unknown
OR2L6P,OR2L5,OR2L2,OR2L3
engchuan_15_ASD_discovery_cases-case13010_123
Unknown
OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T29,OR2T10,OR2T11,OR2T35,OR2G6
engchuan_15_ASD_discovery_cases-case13047_563
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,TFB2M,KIF28P,ZNF670-ZNF695,SMYD3
engchuan_15_ASD_discovery_cases-case14074_1280
Unknown
engchuan_15_ASD_discovery_cases-case14161_2640
Unknown
engchuan_15_ASD_discovery_cases-case14331_4450
Unknown
KIF26B
engchuan_15_ASD_discovery_cases-case14413_5220
Unknown
OR2L6P,OR2L5,OR2L2,OR2L3
engchuan_15_ASD_discovery_cases-case20070_1331001
Unknown
OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T6,OR2G6
engchuan_15_ASD_discovery_cases-case2265_1
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
engchuan_15_ASD_discovery_cases-case3377_3
Unknown
engchuan_15_ASD_discovery_cases-case3378_4
Unknown
OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T2,OR2T29,OR2G6
engchuan_15_ASD_discovery_cases-case3495_3
Unknown
OR2L6P,OR2L5,OR2L2,OR2L3
engchuan_15_ASD_discovery_cases-case4167_1
Unknown
VN1R17P
engchuan_15_ASD_discovery_cases-case4244_1
Unknown
PGBD2,RNU6-1205P,ZNF672,ZNF692
engchuan_15_ASD_discovery_cases-case4249_1
Unknown
KIF26B
engchuan_15_ASD_discovery_cases-case4371_1
Unknown
SCCPDH,LINC01341,AHCTF1,KIF28P
engchuan_15_ASD_discovery_cases-case5542_3
Unknown
RN7SL148P,ZBTB18
engchuan_15_ASD_discovery_cases-case6374_6
Unknown
OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,OR2T35,OR2G6
feliciano_19_ASD_discovery_cases-caseSP0034714
Maternal
OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2G6
null
feliciano_19_ASD_discovery_cases-caseSP0036458
Maternal
Simplex
OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T6,OR2G6
null
gai_11_ASD_discovery_cases-AU0995303
Inherited
gai_11_ASD_discovery_cases-AU1368303
Inherited
OR6F1, OR1C1, OR14A16, OR11L1, TRIM58, OR2W3, OR2T8, OR2L13, OR2L8, OR2AK2, OR2L1P, OR2L2, OR2L3, OR2M1P, OR2M5, OR2M2, OR2M3, OR2M4, OR2T33
gazzellone_14_ASD_discovery_cases-case676-3
Unknown
Unknown
Unknown
SMYD3
girirajan_11_ASD_discovery_cases-Si10
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si100
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si101
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si113
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si115
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_11_ASD_discovery_cases-Si118
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si133
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si138
Unknown
Simplex
VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2T35,OR2G6
girirajan_11_ASD_discovery_cases-Si138
Maternal
Simplex
MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,OR2L1P,OR2T6,OR2T35,OR2G6
girirajan_11_ASD_discovery_cases-Si142
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_cases-Si152
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si153
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T29,OR2T10,OR2T11,LYPD8,OR2T35
girirajan_11_ASD_discovery_cases-Si163
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_11_ASD_discovery_cases-Si164
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si165
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_11_ASD_discovery_cases-Si174
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si175
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_11_ASD_discovery_cases-Si176
Unknown
Simplex
OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si178
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T29,OR2T10,OR2T11,LYPD8,OR2T35,OR2G6
girirajan_11_ASD_discovery_cases-Si18
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si191
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35,OR2G6
girirajan_11_ASD_discovery_cases-Si192
Unknown
Simplex
OR2T7,OR2T3,OR2T5,OR2AS2P,OR2T2,OR2G6
girirajan_11_ASD_discovery_cases-Si194
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si195
Unknown
Simplex
OR2T34,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si197
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si2
Unknown
Simplex
OR2T34,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si200
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si203
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si204
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si207
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si208
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si209
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si224
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si226
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_cases-Si231
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si233
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si234
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si238
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si241
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_11_ASD_discovery_cases-Si244
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si245
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si251
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_11_ASD_discovery_cases-Si26
Unknown
Simplex
OR2T34,OR2T27,OR14I1,OR2T10,OR2T11,LYPD8,OR2T35
girirajan_11_ASD_discovery_cases-Si267
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si27
Unknown
Simplex
OR2T34,OR2T27,OR14I1,OR2T10,OR2T11,LYPD8,OR2T35
girirajan_11_ASD_discovery_cases-Si276
Unknown
Simplex
OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si280
Unknown
Simplex
OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si287
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si289
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si29
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si291
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si3
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si323
Unknown
Simplex
OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si325
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si339
Unknown
Simplex
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_cases-Si344
Unknown
Simplex
OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si345
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_11_ASD_discovery_cases-Si346
Unknown
Simplex
OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si36
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_cases-Si40
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T29,OR2T10,OR2T11,LYPD8,OR2T35,OR2G6
girirajan_11_ASD_discovery_cases-Si41
Unknown
Simplex
OR2T34,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si47
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T29,OR2T10,OR2T11,LYPD8,OR2T35
girirajan_11_ASD_discovery_cases-Si5
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si55
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si56
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si6
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si66
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si68
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si69
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si7
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si72
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si73
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si75
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T29,OR2T10,OR2T11,LYPD8,OR2T35
girirajan_11_ASD_discovery_cases-Si81
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si83
Unknown
Simplex
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_cases-Si85
Unknown
Simplex
OR2T34,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si89
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si9
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_cases-Si91
Unknown
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_12_ASD/DD/ID_discovery_cases-case26112
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,OR2L1P,OR2T6,OR2T35,OR2G6
girirajan_13a_ASD_discovery_cases-11161.p1
Unknown
Simplex
Unknown
VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2L1P,OR2T6,OR2G6
girirajan_13a_ASD_discovery_cases-11301.p1
Unknown
Simplex
Unknown
DNAJC19P8,KIF26B-AS1,KIF26B
girirajan_13b_ASD_discovery_cases-12308109510
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-15910112885
Unknown
Unknown
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
girirajan_13b_ASD_discovery_cases-15910112885
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-16708109743
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-17609111227
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-20005103253
Unknown
Unknown
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-20207108119
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-21707108167
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-21907108174
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-23204100689
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-23807108268
Unknown
Unknown
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_cases-2408108893
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-24609111458
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-25504100812
Unknown
Unknown
Unknown
OR2T34,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-25505102977
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-26107108401
Unknown
Unknown
Unknown
OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T2,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_13b_ASD_discovery_cases-26507108418
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-29007108475
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-29008110245
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-29806106231
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-29908110268
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-3007107649
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-30208110271
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-30408110274
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-3309110754
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-34009111760
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-3407107669
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-34806106495
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-3508108947
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-36006106625
Unknown
Unknown
Unknown
OR2T34,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-36805104915
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_13b_ASD_discovery_cases-38209111900
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-41206106842
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_cases-41606106664
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_cases-42805103614
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-47306107043
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-47604101025
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_13b_ASD_discovery_cases-47906107057
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-48804101682
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-48904101700
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-49906107136
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-50205104237
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-50604101832
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-51604101884
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-52104101908
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-53205104341
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-55004102321
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-55605104444
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-5603100206
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-56104101183
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_13b_ASD_discovery_cases-5703100214
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-60104102183
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-6208109266
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-62104102284
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-65004102035
Unknown
Unknown
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-6503100309
Unknown
Unknown
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_cases-67305104727
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-708108819
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-8505102895
Unknown
Unknown
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_cases-8605102932
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35,OR2G6
girirajan_13b_ASD_discovery_cases-9106105625
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-9605102926
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_cases-9907107878
Unknown
Unknown
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
gregory_09_ASD_discovery_cases-200309368
aCGH dye swap
Unknown
NA
NA
CHCHD4P5,RNU6-1283P,SMYD3-IT1,SMYD3
han_22_ASD/DD/ID_discovery_cases-caseY11
Unknown
OR2T11,OR2T10
iourov_12_ASD/ID/EP_discovery_cases-case53
FISH
Unknown
Unknown
Unknown
SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,RPL23AP25,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,SMYD3,OR2G6
itsara_10_ASD_discovery_cases-HI2615
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,SMYD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000923
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL148P,TGIF2P1,CYCSP5,C1orf100,DESI2,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001131
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2L1P,OR2T6,OR2G6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,SMYD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003812
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003827
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003901
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,DESI2,KIF26B-AS1,COX20,HNRNPU,EFCAB2,KIF26B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004118
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,DESI2,KIF26B-AS1,CATSPERE,COX20,HNRNPU,EFCAB2,KIF26B,SMYD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004237
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004306
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004484
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,C1orf100,DESI2,KIF26B-AS1,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,KIF26B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004491
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,OR2L1P,OR2T6,OR2T35,OR2G6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004586
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,C1orf100,DESI2,KIF26B-AS1,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,KIF26B,SMYD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005380
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,SMYD3,OR2G6
kim_18_DD/ID_discovery_cases-case22
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2L1P,OR2T6
kim_18_DD/ID_discovery_cases-case23
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2L1P,OR2T6
krumm_13_ASD_discovery_cases-case11301.p1
Paternal
Simplex
Not segregated
KIF26B
krumm_13_ASD_discovery_cases-case12308.p1
Maternal
Simplex
Segregated
RN7SKP55,RNU6-947P,HNRNPU,EFCAB2
krumm_13_ASD_discovery_cases-case12463.p1
Paternal
Simplex
Segregated
OR2B11,OR2W5,OR2G2,OR2G3,NLRP3,GCSAML,OR2C3,GCSAML-AS1
krumm_13_ASD_discovery_cases-case12463.p1
Paternal
Simplex
Segregated
OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,TRIM58,OR2X1P
krumm_15_ASD_discovery_cases-case11090.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case11141.p1
Illumina 1M
Paternal
Simplex
Segregated
PGBD2,RNU6-1205P,ZNF692
krumm_15_ASD_discovery_cases-case11154.p1
Illumina 1M
Maternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case11161.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2T35,OR2G6
krumm_15_ASD_discovery_cases-case11301.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
KIF26B
krumm_15_ASD_discovery_cases-case11331.p1
Illumina 1M
Maternal
Simplex
Segregated
MIR3124,PGBD2,RNU6-1205P,SH3BP5L,ZNF672,ZNF692
krumm_15_ASD_discovery_cases-case11550.p1
Illumina 1M
Maternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case11630.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case11810.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case12033.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYCSP5,ADSS,CATSPERE
krumm_15_ASD_discovery_cases-case12044.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
KIF26B
krumm_15_ASD_discovery_cases-case12056.p1
Illumina 1MDuo
De novo
Simplex
Segregated
C1orf229,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
krumm_15_ASD_discovery_cases-case12295.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case12327.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case12435.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case12463.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR2B11,OR2W5,OR2G2,OR2G3,NLRP3,GCSAML,OR2C3,GCSAML-AS1
krumm_15_ASD_discovery_cases-case12736.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR2T10,OR2T11
krumm_15_ASD_discovery_cases-case13351.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CYCSP5,DESI2,CATSPERE
leblond_12_ASD_discovery_cases-AUGB038_3
Maternal
Simplex
OR2T10,OR2T11
leppa_16_ASD_discovery_cases-AU0951302
qPCR; technical failure
De novo
Unknown
Possibly segregated
LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,SMYD3
leppa_16_ASD_discovery_cases-AU1368303
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2L1P
leppa_16_ASD_discovery_cases-AU1626301
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,KIF26B,SMYD3
lesca_12_EP_discovery_cases-case3-19
qPCR
Maternal
Unknown
Unknown
KIF26B-AS1,KIF26B
levy_11_ASD_discovery_cases-11161.p1
Maternal
Simplex
Not segregated
VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2T35,OR2G6
levy_11_ASD_discovery_cases-12674.p1
Paternal
Simplex
Not segregated
FABP7P1,AKT3
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
OR2T10,OR2T11
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
OR2T27,OR14I1,AHCYP8,DPY19L4P1,OR2T11,LYPD8,SH3BP5L,OR2T35
mahjani_22_OCD/CTD_discovery_cases-case15
Unknown
OR2T1,OR2L5,OR2L9P,OR2T7,OR2L6P,OR9H1P,OR6R1P,OR2T12,OR2M5,OR2AJ1,OR2M3,OR2T4,OR14C36,HSD17B7P1,OR14A16,OR2L13,OR2T6,OR2W3,OR6F1,OR2T8,OR2T3,OR14K1,OR2M1P,OR14A2,OR2G6,OR2M7,OR11L1,OR2AK2,OR2T33,OR2L3,OR2L8,OR2M2,OR2T2,OR2T5,OR2X1P,OR2T32P,OR2AS2P,OR13G1,CLK3P2,OR2L2,OR2M4,TRIM58,OR1C1,OR2L1P
mahjani_22_OCD/CTD_discovery_cases-case94
Unknown
OR2T1,OR2L5,OR2C3,OR2L9P,OR2T7,OR2G3,OR2L6P,OR2AS1P,OR9H1P,OR6R1P,OR2G2,ZNF496,OR14L1P,OR2B11,OR2T12,OR2M5,OR2AJ1,NLRP3,OR2M3,OR2T4,OR2T34,OR14C36,OR2T11,OR2T10,HSD17B7P1,GCSAML,OR14A16,OR2L13,OR2T6,VN1R5,OR2W3,OR6F1,OR2T8,OR2T3,OR2T29,OR14K1,OR2M1P,OR14A2,OR2G6,OR2M7,OR11L1,OR2AK2,OR2T33,OR2L3,OR2L8,OR2M2,OR2T2,OR2T5,OR2T27,OR2X1P,OR2T32P,OR2AS2P,OR2T35,OR13G1,VN1R17P,OR3D1P,OR2W5P,CLK3P2,OR2L2,OR2M4,TRIM58,OR1C1,OR2L1P
maini_18_ASD/DD/ID_discovery_cases-case_unknown107
De novo
Unknown
Unknown
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,KIF26B-AS1,COX20,HNRNPU,EFCAB2,KIF26B
maini_18_ASD/DD/ID_discovery_cases-case_unknown108
Unknown
Unknown
Unknown
RNU6-1283P,SMYD3-IT1,SMYD3
maini_18_ASD/DD/ID_discovery_cases-case_unknown109
Paternal
Unknown
Unknown
RNU6-1283P,SMYD3-IT1,SMYD3
maini_18_ASD/DD/ID_discovery_cases-case_unknown110
Paternal
Unknown
Unknown
ZNF695,ZNF670-ZNF695,ZNF670
mak_17_ASD_discovery_cases-case5
Unknown
C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,OR2G6
marshall_08_ASD_discovery_cases-NA0016-000
qPCR, qmPCR
Unknown
NA
NA
SCCPDH,LINC01341,KIF28P
marshall_08_ASD_discovery_cases-SK0229-003
qPCR, qmPCR
Unknown
NA
NA
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P25
Maternal
OR2T1,SCCPDH,ZNF692,ZNF695,ZNF672,TFB2M,SMYD3,ZNF669,OR2L5,OR2C3,OR2L9P,OR2T7,OR2G3,SH3BP5L,OR2L6P,OR2AS1P,OR9H1P,OR6R1P,OR2G2,ZNF670,ZNF496,OR14L1P,OR2B11,OR2T12,OR2M5,OR2AJ1,NLRP3,OR2M3,OR2T4,OR2T34,OR14C36,OR2T11,OR2T10,LINC01341,HSD17B7P1,GCSAML,CNST,OR14A16,OR2L13,PGBD2,OR2T6,LINC01743,VN1R5,OR2W3,OR6F1,OR2T8,OR2T3,OR2T29,OR14K1,LINC02897,OR2M1P,OR14A2,OR2G6,OR2M7,OR11L1,OR2AK2,OR2T33,OR2L3,OR2L8,OR2M2,OR2T2,OR2T5,OR2T27,OR2X1P,OR2T32P,OR2AS2P,OR2T35,OR14I1,OR13G1,VN1R17P,OR3D1P,OR2W5P,LYPD8,ZNF731P,CLK3P2,KIF28P,DPY19L4P1,RPL35AP6,FGFR3P6,MIR3124,MIR3916,ZNF670-ZNF695,RNA5SP82,LYPD9P,SMYD3-AS1,SMYD3-IT1,CHCHD4P5,RNU6-1205P,RNU6-1283P,AHCYP8,ZNF124,OR2L2,OR2M4,TRIM58,OR1C1,OR2L1P,AHCTF1
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam16_P26
Unknown
OR2T1,SCCPDH,ZNF692,ZNF695,ZNF672,TFB2M,SMYD3,ZNF669,OR2L5,OR2C3,OR2L9P,OR2T7,OR2G3,SH3BP5L,OR2L6P,OR2AS1P,OR9H1P,OR6R1P,OR2G2,ZNF670,ZNF496,OR14L1P,OR2B11,OR2T12,OR2M5,OR2AJ1,NLRP3,OR2M3,OR2T4,OR2T34,OR14C36,OR2T11,OR2T10,LINC01341,HSD17B7P1,GCSAML,CNST,OR14A16,OR2L13,PGBD2,OR2T6,LINC01743,VN1R5,OR2W3,OR6F1,OR2T8,OR2T3,OR2T29,OR14K1,LINC02897,OR2M1P,OR14A2,OR2G6,OR2M7,OR11L1,OR2AK2,OR2T33,OR2L3,OR2L8,OR2M2,OR2T2,OR2T5,OR2T27,OR2X1P,OR2T32P,OR2AS2P,OR2T35,OR14I1,OR13G1,VN1R17P,OR3D1P,OR2W5P,LYPD8,ZNF731P,CLK3P2,KIF28P,DPY19L4P1,RPL35AP6,FGFR3P6,MIR3124,MIR3916,ZNF670-ZNF695,RNA5SP82,LYPD9P,SMYD3-AS1,SMYD3-IT1,CHCHD4P5,RNU6-1205P,RNU6-1283P,AHCYP8,ZNF124,OR2L2,OR2M4,TRIM58,OR1C1,OR2L1P,AHCTF1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530437
Unknown
ADSS2,DESI2,KIF26B,SMYD3,EFCAB2,COX20,TGIF2P1,C1orf100,HNRNPU,CATSPERE,CYCSP5,DNAJC19P8,SMYD3-AS1,RN7SKP55,CHCHD4P5,RNU6-999P,RNU6-947P,RNU1-132P,RNU6-1089P,RNU6-1283P,KIF26B-AS1
mosca_16_DCD_discovery_cases-case124504
Unknown
Multi-generational
Unknown
C1orf229,MIR3916,RNA5SP82,VN1R17P,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
mosca_16_DCD_discovery_cases-case124504
qPCR
Maternal
Multi-generational
Not segregated
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,SMYD3
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253729
Unknown
Unknown
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,SMYD3,OR2G6
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Paternal
Multi-generational
Unknown
OR2T34,OR2T10
pinto_10_ASD_discovery_cases-case1153_4
Illumina550
paternal
NA
NA
OR2L6P,OR2L5,OR2L2,OR2L3
pinto_10_ASD_discovery_cases-case5542_3
Agilent1M
paternal
NA
NA
RN7SL148P,ZBTB18
pinto_14_ASD_discovery_cases2-case9770_201
qPCR
Maternal
Simplex
(not tested)
OR2T33,OR2M7,OR14C36,OR2T4,OR2T12
poultney_13_ASD_discovery_cases-case00HI1663A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2L1P,OR2T6
poultney_13_ASD_discovery_cases-case03HI2679A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T2,OR2T29,OR2G6
poultney_13_ASD_discovery_cases-case04HI2831A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M3,OR2M4,OR2T12
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C1orf229,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C1orf229,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C1orf229,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
prasad_12_ASD_discovery_cases-case115731L
Unknown
Unknown
Unknown
TFB2M,CNST,SMYD3
prasad_12_ASD_discovery_cases-case117388L
Unknown
Unknown
Unknown
TFB2M,CNST
prasad_12_ASD_discovery_cases-case122686L
Unknown
Unknown
Unknown
ZNF238
prasad_12_ASD_discovery_cases-case130607
Unknown
Unknown
Unknown
CNST,TFB2M,HNRNPU,KIF26B,NCRNA00201,FAM36A,SMYD3,EFCAB2
prasad_12_ASD_discovery_cases-case51524
Unknown
Unknown
Unknown
SCCPDH,LOC149134
prasad_12_ASD_discovery_cases-case85907
Unknown
Unknown
Unknown
SMYD3
prasad_12_ASD_discovery_cases-case92812
Unknown
Unknown
Unknown
KIF26B
roberts_14_ASD/ID/ADHD/OCD_discovery_cases-case1
FISH
Paternal
Unknown (possibly simplex)
Likely not segregated
C1orf229,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
rooney_23_DD/ID_discovery_cases-case2
De novo
HNRNPU
rooney_23_DD/ID_discovery_cases-case6
De novo
ADSS2,DESI2,KIF26B,TFB2M,SMYD3,EFCAB2,COX20,HNRNPU,CATSPERE,LINC01743,CYCSP5,DNAJC19P8,SMYD3-AS1,SMYD3-IT1,RN7SKP55,CHCHD4P5,RNU6-999P,RNU6-947P,RNU1-132P,RNU6-1089P,RNU6-1283P,KIF26B-AS1
rosenfeld_10_ASD_discovery_cases-case5595
FISH
Paternal
Unknown
Unknown
OR1C1,OR14A16,OR11L1,TRIM58,OR2W3,OR2T8,OR2L13,OR2L8,OR2AK2,OR2L2,OR2L3,OR2M5,OR2M2,OR2M3,OR2M4,OR2T33,OR2T12,OR2M7,OR14C36,OR2T4,OR2T6,OR2T1,OR2T2,OR2T3,OR2T5,OR2G6,OR2T29,OR2T34,OR2T10,OR2T11,OR2T35,OR2T27,OR14I1
rosenfeld_10_ASD_discovery_cases-case7035
FISH
Paternal
Unknown
Unknown
OR1C1,OR14A16,OR11L1,TRIM58,OR2W3,OR2T8,OR2L13,OR2L8,OR2AK2,OR2L2,OR2L3,OR2M5,OR2M2,OR2M3,OR2M4,OR2T33,OR2T12,OR2M7,OR14C36,OR2T4,OR2T6,OR2T1,OR2T2,OR2T3,OR2T5,OR2G6,OR2T29,OR2T34,OR2T10,OR2T11,OR2T35,OR2T27,OR14I1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
qPCR
De novo
Unknown
Unknown
RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
qPCR
Maternal
Unknown
Unknown
CNST
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
qPCR
Maternal
Unknown
Unknown
RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,C1orf100,DESI2,KIF26B-AS1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,KIF26B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
qPCR
Maternal
Unknown
Unknown
LINC01341,KIF28P
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-3A
qPCR
Unknown
Unknown
Unknown
CNST
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
qPCR
Unknown
Unknown
Unknown
VN1R17P
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-016a1
Not tested by qPCR
Unknown
Unknown
Unknown
PGBD2,RNU6-1205P
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-400
qPCR
Paternal
Unknown
Unknown
OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,NLRP3,GCSAML,OR2C3,GCSAML-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-439
Not tested by qPCR
Unknown
Unknown
Unknown
OR14I1,LYPD8
sanders_11_ASD_discovery_cases-11002.p1
Paternal
Simplex (quad-proband matched)
Segregated
KIF26B
sanders_11_ASD_discovery_cases-11008.p1
Maternal
Simplex (quad-proband matched)
Segregated
OR14A16,OR9H1P
sanders_11_ASD_discovery_cases-11031.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SMYD3
sanders_11_ASD_discovery_cases-11039.p1
Paternal
Simplex (trio)
NA
KIF26B
sanders_11_ASD_discovery_cases-11086.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11088.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11093.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11133.p1
Maternal
Simplex (trio)
NA
CNST
sanders_11_ASD_discovery_cases-11141.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11161.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2T35,OR2G6
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11218.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11241.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR2T7,OR2T3,OR2T2
sanders_11_ASD_discovery_cases-11254.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DNAJC19P8,KIF26B-AS1,KIF26B
sanders_11_ASD_discovery_cases-11331.p1
Maternal
Simplex (trio)
NA
MIR3124,SH3BP5L,ZNF672,ZNF692
sanders_11_ASD_discovery_cases-11370.p1
Maternal
Simplex (trio)
NA
OR2T7,OR2T3,OR2T5,OR2AS2P,OR2T2
sanders_11_ASD_discovery_cases-11394.p1
Maternal
Simplex (trio)
NA
SMYD3
sanders_11_ASD_discovery_cases-11401.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AKT3,AKT3-IT1
sanders_11_ASD_discovery_cases-11439.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11475.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR2T7,OR2T3,OR2T2
sanders_11_ASD_discovery_cases-11497.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11677.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11720.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11753.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11881.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C1orf100
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11920.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OR2T7,OR2T3,OR2T2
sanders_11_ASD_discovery_cases-11941.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-11972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR2L6P,OR2L5,OR2L2,OR2L3
sanders_11_ASD_discovery_cases-11979.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12025.p1
Paternal
Simplex (trio)
NA
KIF26B
sanders_11_ASD_discovery_cases-12033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYCSP5,DESI2,ADSS,CATSPERE
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12062.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12096.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12117.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR2T7,OR2T3,OR2T5,OR2AS2P,OR2T2,OR2G6
sanders_11_ASD_discovery_cases-12161.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12189.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR2T7,OR2T3,OR2T5,OR2AS2P,OR2T2
sanders_11_ASD_discovery_cases-12306.p1
Maternal
Simplex (trio)
NA
KIF26B
sanders_11_ASD_discovery_cases-12316.p1
Unknown
Simplex (quad-proband matched)
Segregated
CNST
sanders_11_ASD_discovery_cases-12349.p1
Maternal
Simplex (trio)
NA
KIF26B
sanders_11_ASD_discovery_cases-12366.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12376.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12409.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12418.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR14I1,AHCYP8,LYPD8
sanders_11_ASD_discovery_cases-12463.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,NLRP3,GCSAML,OR2C3,GCSAML-AS1
sanders_11_ASD_discovery_cases-12463.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,TRIM58,OR2X1P
sanders_11_ASD_discovery_cases-12501.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12565.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR2L6P,OR2L5,OR2L2,OR2L3
sanders_11_ASD_discovery_cases-12581.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SMYD3
sanders_11_ASD_discovery_cases-12617.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12629.p1
Paternal
Simplex (trio)
NA
KIF26B
sanders_11_ASD_discovery_cases-12637.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12646.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNST
sanders_11_ASD_discovery_cases-12655.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12674.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FABP7P1,AKT3
sanders_11_ASD_discovery_cases-12685.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SMYD3
sanders_11_ASD_discovery_cases-12723.p1
Both parents
Simplex (quad-proband matched)
Segregated
EFCAB2
sanders_11_ASD_discovery_cases-12740.p1
Both parents
Simplex (trio)
NA
KIF26B
sanders_11_ASD_discovery_cases-12759.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12786.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SMYD3
sanders_11_ASD_discovery_cases-12827.p1
Unknown
Simplex (trio)
NA
OR2L13,OR2T32P
sanders_11_ASD_discovery_cases-12829.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2T32P,OR2M3,OR2M4
sanders_11_ASD_discovery_cases-12907.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-12924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR2L9P
sanders_11_ASD_discovery_cases-12937.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR2M7
sanders_11_ASD_discovery_cases-12964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR2L13,OR2T32P
sanders_11_ASD_discovery_cases-12989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-13036.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13082.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CNST
sanders_11_ASD_discovery_cases-13093.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-13146.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
KIF26B
sanders_11_ASD_discovery_cases-13222.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-13301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF26B
sanders_11_ASD_discovery_cases-13337.p1
Paternal
Simplex (trio)
NA
OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T2,OR2T29,OR2T10,OR2T11,OR2T6,OR2T35,OR2G6
schuch_19_ASD_discovery_cases-case2
Unknown
Unknown
Unknown
OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,GCSAML,OR13G1,OR1C1,OR9H1P,TRIM58
shin_15_ASD/DD/ID_discovery_cases-case1
Unknown
Unknown
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,KIF26B,SMYD3
siu_16_ASD_discovery_cases-patient10
Unknown
Unknown
Unknown
SMYD3-IT1,LINC01743,CNST,SCCPDH,LINC01341,AHCTF1,TFB2M,KIF28P,SMYD3
soueid_16_ASD_discovery_cases-caseBAK43
Maternal
N/A
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
soueid_16_ASD_discovery_cases-caseCLIN24
De novo
Simplex
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
speevak_11_DD_discovery_cases-case1
Unknown
NA
NA
OR2T10
stamouli_18_ASD/NDD_discovery_cases-family23_Twin_2
qPCR
Unknown (paternal DNA N/A)
Multiplex
Not segregated (CNV not present in affected twin)
COX20,HNRNPU
tzetis_12_DD/ID_discovery_cases-case5
De novo
Unknown
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,DESI2,KIF26B-AS1,COX20,HNRNPU,EFCAB2,KIF26B,SMYD3
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
OR2T34,OR2T10,OR2T11
yin_16_ASD_discovery_cases-case51
Unknown
Unknown
Unknown
SMYD3
yuan_23_ASD_discovery_cases-qma02081s000
De novo
OR2T1,OR2T7,OR2T12,OR2M3,OR2T4,OR14C36,OR2T6,OR2T3,OR2G6,OR2M7,OR2T33,OR2M2,OR2T2,OR2T5,OR2AS2P,OR2M4
yuen_16_ASD_discovery_cases-sample1-0454-003
qPCR and/or Sanger sequencing
De novo
Simplex
Segregated
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,KIF26B-AS1,CNST,COX20,HNRNPU,EFCAB2,TFB2M,KIF26B,SMYD3
yuen_17_ASD_discovery_cases-case2-0242-003
Affymetrix 6.0
Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
Multiplex
Possibly segregated
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
yuen_17_ASD_discovery_cases-case2-0242-004
Affymetrix 6.0
Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
Multiplex
Possibly segregated
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
yuen_17_ASD_discovery_cases-case2-0242-005
Affymetrix 6.0
Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
Multiplex
Possibly segregated
RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6
yuen_17_ASD_discovery_cases-case2-1170-003
Agilent 1M
De novo
Simplex
Segregated
DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,SH3BP5L,ZNF672,ZNF692
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC02067
PCR or SNP data validation
Paternal
DNAJC19P8,KIF26B-AS1,KIF26B
engchuan_15_ASD_discovery_controls-control110036006450_
Unknown
OR2T27,OR14I1,AHCYP8,DPY19L4P1,OR2T10,OR2T11,LYPD8,OR2T35
engchuan_15_ASD_discovery_controls-control110036015915_
Unknown
C1orf229,MIR3916,RNA5SP82,VN1R17P,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
engchuan_15_ASD_discovery_controls-control110036020485_
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,TFB2M,SMYD3
engchuan_15_ASD_discovery_controls-controlB233337_1007875219
Unknown
SMYD3
engchuan_15_ASD_discovery_controls-controlB254785_1007854051
Unknown
OR14I1,AHCYP8,LYPD8
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
Unknown
KIF26B
engchuan_15_ASD_discovery_controls-controlB431683_1007874676
Unknown
AKT3,AKT3-IT1
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
Unknown
OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2T32P,OR2M3,OR2M4
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
Unknown
OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2T35,OR2G6
engchuan_15_ASD_discovery_controls-controlB655399_1007854025
Unknown
OR1C1,OR9H1P
engchuan_15_ASD_discovery_controls-controlB765566_1007872601
Unknown
SMYD3
engchuan_15_ASD_discovery_controls-controlB830766_1007854715
Unknown
DPY19L4P1,MIR3124,SH3BP5L
engchuan_15_ASD_discovery_controls-controlB874415_1007853863
Unknown
OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T6,OR2G6
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
Unknown
SMYD3
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
Unknown
KIF26B
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
Unknown
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
Unknown
OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T2,OR2T29,OR2T10,OR2T11,OR2T6,OR2T35,OR2G6
engchuan_15_ASD_discovery_controls-controlHABC_900249_900249
Unknown
OR3D1P,OR6F1,OR14A2,OR14K1,OR13G1,OR1C1
engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
Unknown
OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2T32P,OR2M3,OR2M4
engchuan_15_ASD_discovery_controls-controlHABC_901209_901209
Unknown
OR2L6P,OR2L5,OR2L2,OR2L3
girirajan_11_ASD_discovery_controls-NIMH_101
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_107
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_108
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_113
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_117
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_119
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_120
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_130
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_138
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_142
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_147
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_150
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_165
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_167
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_168
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_175
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_177
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_186
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_controls-NIMH_188
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_193
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_196
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_197
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_205
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_210
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_212
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_216
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_219
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_221
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_222
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_225
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_228
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_24
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_243
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_controls-NIMH_250
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_252
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_255
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_263
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_267
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_273
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_controls-NIMH_275
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_278
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_279
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_280
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_29
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_11_ASD_discovery_controls-NIMH_290
Unknown
OR2T34,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_292
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_302
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_303
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_320
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_51
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_62
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_71
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_77
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_78
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_80
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_90
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_95
Unknown
OR2T10,OR2T11
girirajan_11_ASD_discovery_controls-NIMH_99
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_controls-11510113081
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-11607107933
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-11806105859
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-14403100350
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-1506105511
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-16503100409
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-18808109853
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-20308109922
Unknown
OR2AS1P,OR2T34,OR2T27,OR14I1,OR2T29,OR2T10,OR2T11,LYPD8,OR2T35
girirajan_13b_ASD_discovery_controls-25306106253
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-26109111483
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-27909111544
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-28409111558
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-30705103901
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_controls-3106105582
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-31207108545
Unknown
OR2T34,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-32208110333
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-32508110343
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_13b_ASD_discovery_controls-3306105584
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-34306106585
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-34407108672
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_controls-37205104108
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_controls-37506106691
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_controls-37706106741
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-37904101339
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_13b_ASD_discovery_controls-37906106748
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-38308110558
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-39506106808
Unknown
OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_controls-40005104405
Unknown
OR2AS1P,OR2T34,OR2T27,OR2T29,OR2T10,OR2T11,OR2T35,OR2G6
girirajan_13b_ASD_discovery_controls-41406106851
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-43806106913
Unknown
OR2T34,OR2T27,OR2T10,OR2T11,OR2T35
girirajan_13b_ASD_discovery_controls-45304101644
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-45706106971
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-46806107025
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-49406107134
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-49604101726
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-53306107454
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-55209112484
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-56606107560
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
girirajan_13b_ASD_discovery_controls-59905104552
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-60105104570
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-66404102339
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-70505105438
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-7406105704
Unknown
OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-7907107797
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-8808109366
Unknown
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-9107107840
Unknown
OR2T34,OR2T10,OR2T11
girirajan_13b_ASD_discovery_controls-9306105749
Unknown
OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T2,OR2T29,OR2T10,OR2T11,OR2G6
kanduri_15_ASD_discovery_controls-control_split1863
Unknown
KIF26B (intronic)
kanduri_15_ASD_discovery_controls-control_split1882
Unknown
KIF26B (intronic)
kanduri_15_ASD_discovery_controls-control_split189
Unknown
Intergenic CNV: nearest genes, ZBTB18(dist=23762),C1orf100(dist=227412)
kanduri_15_ASD_discovery_controls-control_split549
Unknown
KIF26B (intronic)
krumm_13_ASD_discovery_controls-control11203.s1
Maternal
Simplex
LINC01743,CNST,TFB2M,SMYD3
krumm_13_ASD_discovery_controls-control11301.s1
Paternal
Simplex
KIF26B
krumm_13_ASD_discovery_controls-control11676.s1
Maternal
Simplex
SCCPDH
krumm_13_ASD_discovery_controls-control11797.s1
Maternal
Simplex
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
krumm_15_ASD_discovery_controls-control11161.s1
Illumina 1MDuo
Maternal
VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2T35,OR2G6
krumm_15_ASD_discovery_controls-control11172.s1
Illumina 1M
Paternal
OR2T34,OR2T10,OR2T11
krumm_15_ASD_discovery_controls-control11203.s1
Illumina 1M
Maternal
LINC01743,CNST,TFB2M,SMYD3
krumm_15_ASD_discovery_controls-control11301.s1
Illumina 1M
Paternal
KIF26B
krumm_15_ASD_discovery_controls-control11676.s1
Illumina 1M
Maternal
SCCPDH
krumm_15_ASD_discovery_controls-control11797.s1
Illumina 1MDuo
Maternal
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
krumm_15_ASD_discovery_controls-control12939.s1
Illumina 1MDuo
Paternal
ZNF695,ZNF670-ZNF695,ZNF670
krumm_15_ASD_discovery_controls-control13575.s1
1M-Duov3
Paternal
C1orf229,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
krumm_15_ASD_discovery_controls-control13575.s1
1M-Duov3
Paternal
SMYD3
krumm_15_ASD_discovery_controls-control14221.s1
Omni2.5-4v1
Paternal
SMYD3
krumm_15_ASD_discovery_controls-control14411.s1
Omni2.5-4v1
Paternal
AHCTF1,ZNF695,ZNF669,ZNF670-ZNF695,ZNF670
leblond_19_ASD_discovery_controls-controlPN400506
Unknown
OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2M4,OR2T12,OR2T2,OR2T6
levy_11_ASD_discovery_controls-11161.s1
Maternal
Simplex
NA
VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2T35,OR2G6
levy_11_ASD_discovery_controls-11198.s1
Paternal
Simplex
NA
C1orf229,MIR3916,RNA5SP82,VN1R17P,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
levy_11_ASD_discovery_controls-11676.s1
Maternal
Simplex
NA
SCCPDH,LINC01341,KIF28P
levy_11_ASD_discovery_controls-12674.s1
Paternal
Simplex
NA
FABP7P1,AKT3
nord_11_ASD_discovery_controls-04C27014
PGBD2
poultney_13_ASD_discovery_controls-control05C41778
Unknown
OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2M4,OR2T12,OR2T2,OR2T6
sanders_11_ASD_discovery_controls-11037.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11053.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11055.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11106.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11152.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11161.s1
Maternal
Simplex (quad)
NA
VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,OR2L1P,OR2T6,OR2T35,OR2G6
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
OR2T3,OR2T5,OR2T2
sanders_11_ASD_discovery_controls-11198.s1
Paternal
Simplex (quad)
NA
C1orf229,MIR3916,RNA5SP82,VN1R17P,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF670-ZNF695,ZNF670
sanders_11_ASD_discovery_controls-11198.s1
Paternal
Simplex (quad)
NA
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,SMYD3
sanders_11_ASD_discovery_controls-11203.s1
Maternal
Simplex (quad)
NA
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
sanders_11_ASD_discovery_controls-11206.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11218.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11254.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11282.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11301.s1
Paternal
Simplex (quad)
NA
DNAJC19P8,KIF26B-AS1,KIF26B
sanders_11_ASD_discovery_controls-11318.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
SMYD3
sanders_11_ASD_discovery_controls-11439.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11485.s1
Maternal
Simplex (quad)
NA
OR2M1P,OR2M5,OR2M2
sanders_11_ASD_discovery_controls-11597.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11600.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11676.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11676.s1
Maternal
Simplex (quad)
NA
SCCPDH,LINC01341,KIF28P
sanders_11_ASD_discovery_controls-11700.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11720.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11753.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11797.s1
Maternal
Simplex (quad)
NA
CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,CNST,TFB2M,SMYD3
sanders_11_ASD_discovery_controls-11827.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11920.s1
Unknown
Simplex (quad)
NA
OR2T7,OR2T3,OR2T2
sanders_11_ASD_discovery_controls-11962.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-11979.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
CYCSP5,DESI2,ADSS,CATSPERE
sanders_11_ASD_discovery_controls-12117.s1
Maternal
Simplex (quad)
NA
OR2T3,OR2T5
sanders_11_ASD_discovery_controls-12161.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12162.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12189.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12227.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12235.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12252.s1
Unknown
Simplex (quad)
NA
OR2T7,OR2T3,OR2T5,OR2T2
sanders_11_ASD_discovery_controls-12346.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12366.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12376.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12418.s1
Paternal
Simplex (quad)
NA
OR2T7,OR2T3,OR2T5,OR2T2
sanders_11_ASD_discovery_controls-12418.s1
Paternal
Simplex (quad)
NA
OR14I1,AHCYP8,LYPD8
sanders_11_ASD_discovery_controls-12501.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12568.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12617.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12621.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12630.s1
Paternal
Simplex (quad)
NA
OR2L6P,OR2L5,OR2L2,OR2L3
sanders_11_ASD_discovery_controls-12637.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12647.s1
Paternal
Simplex (quad)
NA
OR2T27
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
FABP7P1,AKT3
sanders_11_ASD_discovery_controls-12695.s1
Unknown
Simplex (quad)
NA
CNST
sanders_11_ASD_discovery_controls-12759.s1
Maternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-12764.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12786.s1
Unknown
Simplex (quad)
NA
FGFR3P6,ZNF124
sanders_11_ASD_discovery_controls-12786.s1
Paternal
Simplex (quad)
NA
SMYD3
sanders_11_ASD_discovery_controls-12892.s1
Paternal
Simplex (quad)
NA
OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2T32P,OR2M3,OR2M4
sanders_11_ASD_discovery_controls-12939.s1
Paternal
Simplex (quad)
NA
ZNF695,ZNF670-ZNF695,ZNF670
sanders_11_ASD_discovery_controls-13036.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13042.s1
Paternal
Simplex (quad)
NA
KIF26B
sanders_11_ASD_discovery_controls-13063.s1
Maternal
Simplex (quad)
NA
KIF26B
soueid_16_ASD_discovery_controls-control6
OR2AS1P,OR2T34,OR2T29,OR2T10,OR2T11,OR2G6
stamouli_18_ASD/NDD_discovery_controls-family30_Twin_2
Unknown
Simplex
AHCTF1
No Animal Model Data Available