16q23.1CNV Type: Deletion-Duplication
Largest CNV size: 1138958 bp
Statistics Box:
Number of Reports: 47
Number of Reports: 47
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
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-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
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
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Copy Number Variations independently induce Autism Spectrum Disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
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
123026
2
0
2
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
243614
1
0
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
59976
1
0
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
58751
1
0
1
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
694000
1
0
1
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
96000
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
352939
1
0
1
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
5805
1
0
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
287269
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
383000
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
415723
14
2
16
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
191346
2
1
3
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
36074
0
1
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
3327000
1
3
4
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
687833
1
3
4
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
2900733
2
8
10
karayannis_14_ADHD_discovery_cases
ADHD subjects previously reported in Elia et al., Nature Genetics 2012
1242
ADHD
N/A
N/A
11000
2
0
2
karayannis_14_ASD_discovery_cases1
ASD subjects previously reported in Glessner et al., Nature 2009
2078
ASD
N/A
N/A
11000
2
0
2
karayannis_14_ASD_discovery_cases2
New cohort of ASD cases
784
ASD
N/A
N/A
916000
2
0
2
karayannis_14_SCZ_discovery_cases
Schizophrenia subjects previoulsy reported in Glessner et al., Proc. Natl. Acad. Sci. USA 2010
965
Schizophrenia
N/A
N/A
24000
2
0
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
537879
4
1
5
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
537879
4
3
7
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
298956
1
0
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
16731
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
28492
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
30224
0
1
1
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
120920
0
1
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
600000
5
4
9
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1138958
1
3
4
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
287267
1
0
1
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
12326
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
259400
2
0
2
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
72685
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
258559
1
0
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
229368
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
35056
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
37564
2
0
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
31230
1
0
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)
11423
1
2
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
1023563
6
1
7
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
245000
1
0
1
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
328039
0
1
1
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
54989
2
0
2
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
623348
37
31
68
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
835000
0
1
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
11021
0
1
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
112190
0
1
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
11021
1
0
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
639000
0
0
0
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
1344664
1
0
1
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
575160
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
59243
5
0
5
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
142195
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
80338
1
0
1
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
335085
17
7
24
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
366538
3
1
4
karayannis_14_ADHD_discovery_controls
Controls
4109
Control
N/A
N/A
0
0
0
0
karayannis_14_ASD_discovery_controls
Controls
2512
Control
N/A
N/A
0
0
0
0
karayannis_14_SCZ_discovery_controls
Controls
1466
Control
N/A
N/A
0
0
0
0
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
414142
3
1
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
452451
2
2
4
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
18326
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
28492
1
1
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
557089
0
1
1
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
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.
16327
1
0
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)
242271
0
3
3
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)
1023563
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.
545039
24
14
38
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
115414
2
0
2
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
639000
0
1
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
59243
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
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
None
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
aCGH (Agilent 180K)
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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_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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
karayannis_14_ADHD_discovery_cases
N/A
Solid phase hybridization
Illumina 550K
Penn CNV, QuantiSNP
qPCR
karayannis_14_ASD_discovery_cases1
N/A
Solid phase hybridization
Illumina 550K
Penn CNV, QuantiSNP
qPCR
karayannis_14_ASD_discovery_cases2
France
Solid phase hybridization
Illumina Human Omni 1/cytoSNP array
qPCR
karayannis_14_SCZ_discovery_cases
N/A
Array SNP
Affymetrix 6.0
Penn CNV, QuantiSNP
qPCR
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
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
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
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
qPCR
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
karayannis_14_ADHD_discovery_controls
N/A
Solid phase hybridization
Illumina 550K
Penn CNV, QuantiSNP
karayannis_14_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550K
Penn CNV, QuantiSNP
karayannis_14_SCZ_discovery_controls
N/A
Array SNP
Affymetrix 6.0
Penn CNV, QuantiSNP
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case209
6 yrs.
M
ASD and developmental delay
Autism, developmental delay (walking at 20 months of age). Growth parameters: height 0.45 m, weight 18 kg, head circumference 50 cm. Family history: no data on familial consanguinity.
78230382
78353407
123026
GRCh38
Deletion
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case210
6 yrs.
M
ASD and developmental delay
Autism, developmental delay (walking at 20 months). Growth parameters: height 0.49 m, weight 24 kg, head circumference 52 cm. Family history: no data on familial consanguinity.
78230382
78353407
123026
GRCh38
Deletion
No
al_shehhi_18_ASD/DD/ID_discovery_cases-case25
8 yrs. 10 mos.
M
Developmental delay
Speech and language delay
Learning disability
76936414
77180027
243614
GRCh38
Deletion
Yes
annunziata_21_ASD_discovery_cases-caseIB272
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
78515825
78575800
59976
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB139
N/A
M
ASD
Clinical diagnosis of high functioning PDD-NOS. PDD-NOS on ADOS and ADI-R; normal EEG and brain MRI; mood and anxiety disorder (on pharmacological treatment).
Normal IQ on WISC-IV (TIQ 115)
78268502
78327252
58751
GRCh38
Deletion
No
bartnik_12_EP_discovery_cases-case16
NA
M
Epilepsy and autism
Age of onset of epilepsy: 4 years. Seizure types/epilepsy syndrome: Epilepsy with absence seizures and generalized tonic-clonic seizures (GTCS). Parental phenotype: mother normal; father had schizophrenia and committed suicide; father's brother also committed suicide.
78383514
79077717
694204
GRCh38
Deletion
No
bitar_19_ASD_discovery_cases-case117
N/A
M
ASD
Case diagnosed with ASD using DSM-IV criteria and CARS. Additional medical history: deafness. Family history: born to non-consanguineous parents; family history not available.
77142992
77239447
96456
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseMT_161.3
N/A
M
ASD
Case from REACH cohort
74560391
74913330
352940
GRCh38
Deletion
Yes
costa_21_ASD_discovery_cases-caseP128
NA
M
ASD and developmental delay
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech delay, lactose and gluten intolerance.
76461779
76467583
5805
GRCh38
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case129
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
78493220
78780488
287269
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296562
N/A
M
Cognitive impairment
Cognitive impairment
74838597
75221345
382749
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300099
N/A
M
Developmental delay/intellectual disability
78552363
78690773
138411
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13153_1703
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
76919799
77195760
275962
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14141_2390
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78597897
78667092
69196
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14292_4130
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79092653
79203011
110359
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14336_4500
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78011903
78043533
31631
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18121_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78291067
78379999
88933
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20022_1110001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78261901
78327252
65352
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20042_1249001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77216502
77247731
31230
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20050_1272001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77279984
77320076
40093
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20091_1397001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79582484
79998207
415724
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20110_1510001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77986647
78037610
50964
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20152_1637001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
76578853
76665272
86420
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3449_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75140614
75202886
62273
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3612_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75194071
75261741
67671
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4530_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75462088
75498146
36059
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5321_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75984498
76022061
37564
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5554_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
74839615
74956408
116794
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1025301
Autism
75901127
75963452
62326
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1182302
Autism
75165136
75356481
191346
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1684303
Autism
75901127
75963452
62326
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case540-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
77157580
77193654
36075
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11581.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
76618602
77728602
1110001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13375.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
75498601
78828602
3330002
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13815.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
76218601
76478602
260002
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14415.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
77658602
78378602
720001
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D1018
1 mo. 23 days
F
Developmental delay
Softened laryngeal cartilage
77859382
78547214
687833
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseF4
3 yrs.
M
ASD
78343347
78453490
110144
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY125
NA
NA
NA
77859382
78540659
681278
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY17
2 yrs. 9 mos.
F
ASD
77862123
78545565
683443
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001025
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
76487528
76735501
247974
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002280
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78455117
79029935
574819
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002347
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
75485676
75603079
117404
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002376
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77960806
78620032
659227
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002771
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77515483
78109855
594373
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002779
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
75581049
76337261
756213
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004153
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78064581
78624387
559807
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004390
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
75163906
78064640
2900735
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004564
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77919420
78781576
862157
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005195
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
76877375
77933220
1055846
GRCh38
Duplication
Yes
karayannis_14_ADHD_discovery_cases-case1
N/A
N/A
ADHD
N/A
N/A
76328116
76333289
5174
GRCh38
Deletion
Yes
karayannis_14_ADHD_discovery_cases-case2
N/A
N/A
ADHD
N/A
N/A
76322498
76333289
10792
GRCh38
Deletion
Yes
karayannis_14_ASD_discovery_cases1-case1
N/A
N/A
ASD
N/A
N/A
76328116
76333289
5174
GRCh38
Deletion
Yes
karayannis_14_ASD_discovery_cases1-case2
N/A
N/A
ASD
N/A
Raven non-verbal IQ of 88
76322498
76333289
10792
GRCh38
Deletion
Yes
karayannis_14_ASD_discovery_cases2-case1
N/A
M
ASD
Autism
Mild intellectual disability
75732190
76648366
916177
GRCh38
Deletion
Yes
karayannis_14_ASD_discovery_cases2-case2
N/A
M
ASD
Asperger syndrome. Family history: two unaffected siblings (negative for 16q23.1/CNTNAP4 deletion); maternal grandfather diagnosed with Asperger syndrome (DNA not available for testing)
76542832
76644475
101644
GRCh38
Deletion
Yes
karayannis_14_SCZ_discovery_cases-case1
N/A
N/A
Schizophrenia
N/A
N/A
76317395
76337402
20008
GRCh38
Deletion
Yes
karayannis_14_SCZ_discovery_cases-case2
N/A
N/A
Schizophrenia
N/A
N/A
76317395
76337402
20008
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11581.p1
N/A
M
ASD
ASD proband from SSC quad family 11581. SRS score of 78.
Full-scale IQ (FSIQ) score of 64.
77198107
77735986
537880
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11797.p1
N/A
M
ASD
ASD proband from SSC quad family 11797. SRS score of 76.
Full-scale IQ (FSIQ) score of 118.
78022626
78028190
5565
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13216.p1
N/A
M
ASD
ASD proband from SSC quad family 13216. SRS score of 90.
Full-scale IQ (FSIQ) score of 105.
78022626
78030841
8216
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13493.p1
N/A
M
ASD
ASD proband from SSC quad family 13493. SRS score of 77.
Full-scale IQ (FSIQ) score of 104.
77862747
77884802
22056
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13815.p1
N/A
M
ASD
ASD proband from SSC quad family 13815. SRS score of 82.
Full-scale IQ (FSIQ) score of 51.
76277662
76479538
201877
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11097.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
78164182
78432752
268571
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11581.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
77198107
77735986
537880
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12320.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
74300110
74392082
91973
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12383.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
77971849
77977695
5847
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12540.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
76355317
76489883
134567
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13493.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
77862747
77884802
22056
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13815.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
76277662
76479538
201877
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1799
45 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
79103200
79402155
298956
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0639
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
76505150
76521880
16731
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0492
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
76305266
76333757
28492
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0547
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
76307017
76337240
30224
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_cases-casePN400117
N/A
M
ASD
Diagnosis of Asperger syndrome. Behavioral/psychiatric evaluation: tics. Additional medical history: gynecomastia.
74332457
74453373
120917
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1993301
N/A
N/A
ASD
Social Responsiveness Scale score N/A, Asperger's/high-functioning, speech delay, no seizures
Raven's non-verbal IQ 94, Stanford-Binet full scale IQ 102
78266103
78366103
100001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1993302
N/A
N/A
ASD
Social Responsiveness Scale 96, Vineland 62, OCD, speech delay, no seizures
Mild intellectual disability, Raven's non-verbal IQ 90
78266103
78366103
100001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU2073303
N/A
N/A
ASD
Social Responsiveness Scale score N/A, Vineland 80, Asperger's/high-functioning, ADHD, delayed echolalia, no seizures
Stanford-Binet full scale IQ 120
78866103
79066103
200001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU2488303
N/A
M
ASD
78014103
78512103
498001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU2607301
N/A
N/A
ASD
Social Responsiveness Scale score 83, Vineland 81, no seizures
Raven's non-verbal IQ 75, Stanford-Binet full scale IQ 77
78266103
78566103
300001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU2607302
N/A
N/A
ASD
Social Responsiveness Scale score 86, Vineland 77, no seizures
Raven's non-verbal IQ 85, Stanford-Binet full scale IQ 90
78266103
78566103
300001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU3381303
N/A
F
ASD
77933103
78571103
638001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU4010301
N/A
N/A
ASD
Social Responsive Scale score 71, no conversation, few words, no seizures
Raven's non-verbal IQ 85
77966103
78466103
500001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU4112303
N/A
N/A
ASD
Social Responsive Scale score 85, can carry a conversation, tells friends from non-friends, no seizures
Raven's non-verbal IQ 97
77566103
78066103
500001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11581.p1
NA
M
ASD
NA
NA
76601410
77740367
1138958
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11677.p1
NA
M
ASD
NA
NA
75461551
75508172
46622
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12383.p1
NA
M
ASD
NA
NA
77908981
77999690
90710
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12540.p1
NA
F
ASD
NA
NA
75953018
76510107
557090
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case4.1
N/A
N/A
Autism
No additional clinical information available
78493221
78780488
287268
GRCh38
Deletion
Yes
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.
78338543
78350868
12326
GRCh38
Deletion
No
marhsall_08_ASD_discovery_cases-NA0063-000
NA
M
ASD
NA
NA
74806268
75065668
259401
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-NA0095-000
NA
M
ASD
NA
NA
75984957
76021601
36645
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case128203
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis DCD, ADHD and reading disorder; paternal diagnosis reading disorder.
78151227
78223911
72685
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case13815.p1
NA
M
ASD/Autism
Case also identified with de novo ITGB3 missense mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 56
76217106
76475666
258561
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case53
N/A
N/A
Non-NDD
Disease cohort: muscle disorder. Description: FA2H deletion
74727243
74956611
229369
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
74338387
74373443
35057
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5208_3
NA
M
ASD
Low average language, no epilepsy; mother treated with valproic acid for epilepsy during pregnancy, fetal tachycardia during labor, forceps delivery at 33 1/2 wks, poor respiratory effort, on ventilation; CT scan: mild cortical atrophy, normal EEGs; neurological exam: tight hamstrings, toe walking; dysmorphic features: thin upper lip, small chin, flattened nasolabial fold, flattened occiput, small hands/fingers, lingual frenulum
Above average nonverbal IQ
74997300
75007489
10190
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5321_3
NA
M
ASD
NA
NA
75984498
76022061
37564
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case20042_1249001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
77216502
77247731
31230
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI3885A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1094302; NDAR ID NDAR_INVCD419FWA)
74412771
74421272
8502
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4123A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1211302; NDAR ID NDAR_INVWJ761PMP)
74409850
74421272
11423
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-caseHI4340
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1546301; NDAR ID NDAR_INVGL289MAW)
74409850
74421272
11423
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case137484
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
76348465
77372027
1023563
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case36773
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
74827529
74838266
10738
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50005
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
77383532
77477156
93625
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60351
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
73429796
73548242
118447
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case67953L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
76494418
76634378
139961
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case81352
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
75609395
75647759
38365
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85287L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
76997299
77013493
16195
Unknown
Deletion
No
qiao_12_ASD_discovery_cases-case10-45A
NA
NA
ASD and/or ID
NA
NA
74344539
74589491
245000
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case14098
NA
NA
ASD
NA
NA
73485555
73813594
328039
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1296-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
74884887
74933921
49035
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-188
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
75494613
75549601
54989
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11059.p1
6.6
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
78975571
79034420
58850
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11097.p1
5.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
78049580
78672928
623349
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11107.p1
6.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
75505538
75540831
35294
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
78570934
78685517
114584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11198.p1
11.9
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
79230019
79240342
10324
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
75901127
75963452
62326
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11265.p1
14.3
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 98; verbal IQ, 120
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11285.p1
15.3
M
Autism
NA
Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
76674520
76734281
59762
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
78392171
78416155
23985
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11368.p1
5.9
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11400.p1
8.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
75932872
75972014
39143
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11441.p1
7.8
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11459.p1
11.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 88; verbal IQ, 71
79026330
79028962
2633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
75505538
75545335
39798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
79026330
79028962
2633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
75505538
75545335
39798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
79057261
79066157
8897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
75514182
75538114
23933
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11575.p1
11.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
77194969
77738102
543134
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
76602066
77180046
577981
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
75505538
75538114
32577
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
75462088
75498146
36059
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
75984498
76022061
37564
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11797.p1
15.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
78016322
78028262
11941
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
78046850
78058601
11752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
78268502
78341581
73080
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
75505538
75545335
39798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
75514182
75545335
31154
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12180.p1
16.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
75439434
75450343
10910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
75514182
75543661
29480
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
75505538
75545335
39798
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
78046850
78058601
11752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
76135833
76163136
27304
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12358.p1
9.3
F
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
78908704
78916844
8141
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12383.p1
9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 88; verbal IQ, 90
77910756
78001665
90910
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
75529432
75535841
6410
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
75522940
75543661
20722
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
75957140
76501445
544306
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12614.p1
6.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
77096442
77121934
25493
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
79230019
79236651
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
75514182
75545335
31154
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12681.p1
6.5
F
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
76828911
77286708
457798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12729.p1
17
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 80; verbal IQ, 70
79516830
79546990
30161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
75505538
75540831
35294
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12859.p1
4.3
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
77696795
77718311
21517
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
75505538
75545335
39798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
78939098
78946504
7407
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
76237670
76246945
9276
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13089.p1
8.4
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
75505538
75545335
39798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
75505538
75545335
39798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13150.p1
8.1
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
76835840
76849669
13830
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13187.p1
9.5
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
75505538
75538114
32577
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13196.p1
8.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
76237670
76246945
9276
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13199.p1
15.2
F
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 97
78789837
78836129
46293
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
77986647
78043533
56887
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case100
1 yr.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
77318100
78153207
835108
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
78338000
78349020
11021
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family59_Twin_1
N/A
N/A
NDD
Case is from a dizygotic twin pair from the Concordant NDD diagnostic group
78867826
78980015
112190
GRCh38
Duplication
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
78338000
78349020
11021
GRCh38
Deletion
No
yap_21_ASD_discovery_cases-case1101217
NA
M
ASD, developmental delay, and epilepsy/seizures
Global developmental delay; Seizures/epilepsy; 16q23.1 Deletion transmitted by father
74628815
75973478
1344664
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case7769
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
78400795
78975955
575161
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case503
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
74613897
74673139
59243
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case504
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
76816258
76871411
55154
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case505
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
78371869
78392207
20339
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case506
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
78371869
78392207
20339
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case507
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
78773873
78813626
39754
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01777s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
75414327
75556521
142195
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10025
N/A
M
Control
Control
78352398
78432735
80338
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036005619_
N/A
N/A
Control
No previous psychiatric history
75987202
76022061
34860
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
N/A
N/A
Control
No previous psychiatric history
78275043
78383914
108872
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB157139_1007853600
N/A
N/A
Control
No previous psychiatric history
78268502
78331230
62729
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB706383_1007844446
N/A
N/A
Control
No previous psychiatric history
78153157
78223911
70755
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB719092_1007853947
N/A
N/A
Control
No previous psychiatric history
75458344
75505987
47644
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
N/A
N/A
Control
No previous psychiatric history
78043533
78098377
54845
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB972803_1007842434
N/A
N/A
Control
No previous psychiatric history
75932872
75976700
43829
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
N/A
N/A
Control
No previous psychiatric history
77532162
77867247
335086
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB980109_1007875790
N/A
N/A
Control
No previous psychiatric history
78268502
78335793
67292
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900062_900062
N/A
N/A
Control
No previous psychiatric history
76169384
76202889
33506
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
N/A
N/A
Control
No previous psychiatric history
78318860
78357481
38622
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
N/A
N/A
Control
No previous psychiatric history
76871898
77008127
136230
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900199_900199
N/A
N/A
Control
No previous psychiatric history
78268502
78331230
62729
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900260_900260
N/A
N/A
Control
No previous psychiatric history
77180046
77343757
163712
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900386_900386
N/A
N/A
Control
No previous psychiatric history
76828911
76872921
44011
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900391_900391
N/A
N/A
Control
No previous psychiatric history
79127945
79194353
66409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900436_900436
N/A
N/A
Control
No previous psychiatric history
78261901
78331230
69330
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900509_900509
N/A
N/A
Control
No previous psychiatric history
76938661
77060019
121359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
N/A
N/A
Control
No previous psychiatric history
79220984
79286589
65606
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
N/A
N/A
Control
No previous psychiatric history
78432584
78491915
59332
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
N/A
N/A
Control
No previous psychiatric history
77216502
77288357
71856
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
N/A
N/A
Control
No previous psychiatric history
76875264
77127652
252389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
N/A
N/A
Control
No previous psychiatric history
77986647
78043533
56887
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
N/A
N/A
Control
No previous psychiatric history
77986647
78043533
56887
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1501
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
75556838
75575410
18573
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1894
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
78020855
78065139
44285
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split249
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
74130928
74162551
31624
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split266
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
78430875
78797412
366538
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11797.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11797. SRS score of 51.
78022626
78028190
5565
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13216.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13216. SRS score of 50.
78022626
78030841
8216
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13493.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13493. SRS score of 57.
77862747
77884802
22056
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13621.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13621. SRS score of 40.
75242469
75656611
414143
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12320.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
74300110
74411777
111668
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12540.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
76277662
76498694
221033
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13493.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
77862747
77879224
16478
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13621.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
75204160
75656611
452452
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0798
32 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
76468081
76486406
18326
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0798
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
76468080
76486406
18327
GRCh38
Deletion
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0843
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
76305266
76333757
28492
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12540.s1
NA
F
Control
NA
NA
75953018
76510107
557090
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C28320
Control
76637114
76653440
16327
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C39410A
N/A
F
Control
NIMH Control (NIMH ID 82981)
74409850
74421272
11423
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39822A
N/A
F
Control
NIMH Control (NIMH ID 15431)
74412771
74421272
8502
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44954
N/A
F
Control
NIMH Control (NIMH ID 12344)
76316413
76558683
242271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11008.s1
26.3
M
Control (matched sibling)
NA
NA
78766285
78942154
175870
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11028.s1
12.9
M
Control (matched sibling)
NA
NA
75505538
75540831
35294
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
75505538
75542684
37147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
75514182
75543661
29480
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11197.s1
7.8
M
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11285.s1
16.4
M
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
76674520
76728036
53517
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11400.s1
10.8
F
Control (matched sibling)
NA
NA
75932872
75972014
39143
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
76255817
76259496
3680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
78016322
78028262
11941
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11883.s1
6.1
F
Control (matched sibling)
NA
NA
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
75505538
75540831
35294
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11977.s1
13.3
F
Control (matched sibling)
NA
NA
78268502
78333917
65416
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12037.s1
16.8
M
Control (matched sibling)
NA
NA
75514182
75543661
29480
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12037.s1
16.8
M
Control (matched sibling)
NA
NA
79230019
79236651
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12062.s1
7.8
F
Control (matched sibling)
NA
NA
78046850
78058601
11752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
75514182
75543661
29480
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12100.s1
13.8
F
Control (matched sibling)
NA
NA
79546990
79571686
24697
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
76322498
76334817
12320
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
79026255
79028962
2708
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12345.s1
12.9
F
Control (matched sibling)
NA
NA
76135833
76163136
27304
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12368.s1
7.2
M
Control (matched sibling)
NA
NA
75514182
75545335
31154
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
79026255
79028962
2708
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12440.s1
5.1
F
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
75957140
76502180
545041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12651.s1
15.8
M
Control (matched sibling)
NA
NA
75505538
75545335
39798
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12729.s1
13.5
M
Control (matched sibling)
NA
NA
79516830
79548477
31648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
77168804
77185661
16858
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
77696795
77718311
21517
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
75505538
75543661
38124
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
75522940
75543661
20722
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
79230019
79240342
10324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13216.s1
6
M
Control (matched sibling)
NA
NA
77986647
78043533
56887
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
74842714
74955442
112729
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
74840029
74955442
115414
GRCh38
Deletion
No
wang_10_ASD_discovery_controls-Aut148
38
M
Control
NA
NA
77934107
78573452
639346
GRCh38
Duplication
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-case209
Unknown
WWOX,WWOX-AS1
akter_23_ASD/ADHD/DD/ID_discovery_cases-case210
Unknown
WWOX,WWOX-AS1
al_shehhi_18_ASD/DD/ID_discovery_cases-case25
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
annunziata_21_ASD_discovery_cases-caseIB272
qPCR, FISH
Unknown
WWOX
bacchelli_20_ASD_discovery_cases-caseAB139
Maternal
Simplex
WWOX
bartnik_12_EP_discovery_cases-case16
Unknown
RPS3P7,WWOX
bitar_19_ASD_discovery_cases-case117
qPCR
Maternal
VN2R10P,MON1B,SYCE1L
brandler_18_ASD_discovery_cases-caseMT_161.3
PCR or SNP data validation
Maternal
TMPOP2,HSPE1P7,RFWD3,MLKL,FA2H,WDR59,GLG1
costa_21_ASD_discovery_cases-caseP128
aCGH (Agilent 180K)
Paternal
CNTNAP4
cucinotta_23_ASD_discovery_cases-case129
Maternal
WWOX
digregorio_17_DD/ID_discovery_cases-DECIPHER_296562
qPCR
De novo
LDHD,CTRB2,CTRB1,ZFP1,WDR59,ZNRF1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300099
Paternal
WWOX
engchuan_15_ASD_discovery_cases-case13153_1703
Unknown
MON1B
engchuan_15_ASD_discovery_cases-case14141_2390
Unknown
WWOX
engchuan_15_ASD_discovery_cases-case14292_4130
Unknown
WWOX
engchuan_15_ASD_discovery_cases-case14336_4500
Unknown
CLEC3A
engchuan_15_ASD_discovery_cases-case18121_302
Unknown
LSM3P5,WWOX
engchuan_15_ASD_discovery_cases-case20022_1110001
Unknown
WWOX
engchuan_15_ASD_discovery_cases-case20042_1249001
Unknown
VN2R10P
engchuan_15_ASD_discovery_cases-case20050_1272001
Unknown
ADAMTS18
engchuan_15_ASD_discovery_cases-case20091_1397001
Unknown
MAF,MAFTRR,LINC01228,LINC01229
engchuan_15_ASD_discovery_cases-case20110_1510001
Unknown
CLEC3A
engchuan_15_ASD_discovery_cases-case20152_1637001
Unknown
LINC02125
engchuan_15_ASD_discovery_cases-case3449_3
Unknown
ZFP1
engchuan_15_ASD_discovery_cases-case3612_3
Unknown
CTRB2,CTRB1,BCAR1
engchuan_15_ASD_discovery_cases-case4530_1
Unknown
TMEM170A,CHST6
engchuan_15_ASD_discovery_cases-case5321_3
Unknown
engchuan_15_ASD_discovery_cases-case5554_3
Unknown
WDR59
gai_11_ASD_discovery_cases-AU1025301
Inherited
gai_11_ASD_discovery_cases-AU1182302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1684303
Inherited
gazzellone_14_ASD_discovery_cases-case540-3
Unknown
Unknown
Unknown
MON1B
girirajan_13a_ASD_discovery_cases-11581.p1
Unknown
Simplex
Unknown
MIR4719,VN2R10P,LINC02125,MON1B,SYCE1L,ADAMTS18,NUDT7,LINC02131
girirajan_13a_ASD_discovery_cases-13375.p1
Unknown
Simplex
Unknown
GABARAPL2,RN7SL520P,ATP5PBP7,CPHXL,RNA5SP430,RPL18P13,RN7SKP233,MIR4719,VN2R10P,PPIAP50,KRT8P22,WWOX-AS1,LSM3P5,RPS3P7,TMEM231P1,CHST5,TMEM231,ADAT1,DUXB,LINC02125,CLEC3A,KARS,TERF2IP,MON1B,SYCE1L,ADAMTS18,NUDT7,VAT1L,CNTNAP4,LINC02131,WWOX
girirajan_13a_ASD_discovery_cases-13815.p1
Unknown
Simplex
Unknown
RPL18P13,RN7SKP233,CNTNAP4
girirajan_13a_ASD_discovery_cases-14415.p1
Unknown
Simplex
Unknown
PPIAP50,KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,NUDT7,VAT1L,WWOX
han_22_ASD/DD/ID_discovery_cases-case19D1018
Unknown
WWOX,VAT1L,KRT8P22,LSM3P5,WWOX-AS1,PPIAP50,CLEC3A
han_22_ASD/DD/ID_discovery_cases-caseF4
Unknown
WWOX,LSM3P5
han_22_ASD/DD/ID_discovery_cases-caseY125
Unknown
WWOX,VAT1L,KRT8P22,LSM3P5,WWOX-AS1,PPIAP50,CLEC3A
han_22_ASD/DD/ID_discovery_cases-caseY17
Unknown
WWOX,VAT1L,KRT8P22,LSM3P5,WWOX-AS1,PPIAP50,CLEC3A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001025
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC02125,CNTNAP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002280
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS3P7,WWOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002347
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GABARAPL2,CHST6,TMEM231P1,CHST5,TMEM231,ADAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002376
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,VAT1L,WWOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002771
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP50,KRT8P22,CLEC3A,NUDT7,VAT1L,LINC02131,WWOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002779
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL520P,ATP5PBP7,CPHXL,RNA5SP430,RPL18P13,RN7SKP233,ADAT1,DUXB,KARS,TERF2IP,CNTNAP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004153
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
WWOX-AS1,LSM3P5,CLEC3A,WWOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004390
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CTRB2,CTRB1,RNU6-758P,GABARAPL2,RN7SL520P,ATP5PBP7,CPHXL,RNA5SP430,RPL18P13,RN7SKP233,MIR4719,VN2R10P,PPIAP50,KRT8P22,ZFP1,TMEM170A,CHST6,TMEM231P1,CHST5,TMEM231,ADAT1,DUXB,LINC02125,CLEC3A,BCAR1,CFDP1,KARS,TERF2IP,MON1B,SYCE1L,ADAMTS18,NUDT7,VAT1L,CNTNAP4,LINC02131
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004564
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,VAT1L,WWOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005195
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
VN2R10P,PPIAP50,MON1B,SYCE1L,ADAMTS18,NUDT7,VAT1L,LINC02131
karayannis_14_ADHD_discovery_cases-case1
qPCR
Unknown
Unknown
Unknown
CNTNAP4
karayannis_14_ADHD_discovery_cases-case2
qPCR
Maternal
Unknown
Unknown
CNTNAP4
karayannis_14_ASD_discovery_cases1-case1
qPCR
Unknown
Unknown
Unknown
CNTNAP4
karayannis_14_ASD_discovery_cases1-case2
qPCR
Inherited
Unknown
Unknown
CNTNAP4
karayannis_14_ASD_discovery_cases2-case1
qPCR
Maternal
Unknown
Unknown
RNA5SP430,RPL18P13,RN7SKP233,LINC02125,TERF2IP,CNTNAP4
karayannis_14_ASD_discovery_cases2-case2
qPCR
Maternal
Possible multi-generational (maternal grandmother with Asperger syndrome; DNA not tested)
Unknown
LINC02125,CNTNAP4
karayannis_14_SCZ_discovery_cases-case1
qPCR
Unknown
Unknown
Unknown
CNTNAP4
karayannis_14_SCZ_discovery_cases-case2
qPCR
Unknown
Unknown
Unknown
CNTNAP4
krumm_13_ASD_discovery_cases-case11581.p1
Maternal
Simplex
Segregated
VN2R10P,MON1B,SYCE1L,ADAMTS18,NUDT7,LINC02131
krumm_13_ASD_discovery_cases-case11797.p1
Paternal
Simplex
Not segregated
CLEC3A
krumm_13_ASD_discovery_cases-case13216.p1
Paternal
Simplex
Not segregated
CLEC3A
krumm_13_ASD_discovery_cases-case13493.p1
Paternal
Simplex
Not segregated
VAT1L
krumm_13_ASD_discovery_cases-case13815.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
RN7SKP233,CNTNAP4
krumm_15_ASD_discovery_cases-case11097.p1
Illumina 1M
Maternal
Simplex
Segregated
WWOX-AS1,LSM3P5,WWOX
krumm_15_ASD_discovery_cases-case11581.p1
Illumina 1M
Maternal
Simplex
Segregated
VN2R10P,MON1B,SYCE1L,ADAMTS18,NUDT7,LINC02131
krumm_15_ASD_discovery_cases-case12320.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PSMD7,NPIPB15
krumm_15_ASD_discovery_cases-case12383.p1
Illumina 1MDuo, aCGH
De novo
Simplex
Segregated
VAT1L
krumm_15_ASD_discovery_cases-case12540.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CNTNAP4
krumm_15_ASD_discovery_cases-case13493.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
VAT1L
krumm_15_ASD_discovery_cases-case13815.p1
Omni2.5-4v1
De novo
Simplex
Segregated
RN7SKP233,CNTNAP4
kushima_18_SCZ_discovery_cases-caseSCZ1799
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
RNA5SP431,WWOX
kushima_22_ASD_discovery_cases-caseASD0639
qRT-PCR
Unknown
CNTNAP4
kushima_22_BPD_discovery_cases-caseBD0492
qRT-PCR
Unknown
CNTNAP4
kushima_22_SCZ_discovery_cases-caseSCZ0547
qRT-PCR
Unknown
CNTNAP4
leblond_19_ASD_discovery_cases-casePN400117
Unknown
Simplex
Unknown
NPIPB15,CLEC18B,GLG1
leppa_16_ASD_discovery_cases-AU1993301
Maternal
Multiplex
Segregated (CNV present in both affected individuals)
LSM3P5,WWOX
leppa_16_ASD_discovery_cases-AU1993302
Maternal
Multiplex
Segregated (CNV present in both affected individuals)
LSM3P5,WWOX
leppa_16_ASD_discovery_cases-AU2073303
Maternal
Unknown
Unknown
WWOX
leppa_16_ASD_discovery_cases-AU2488303
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,WWOX
leppa_16_ASD_discovery_cases-AU2607301
Maternal
Multiplex
Segregated (CNV present in both affected individuals)
LSM3P5,WWOX
leppa_16_ASD_discovery_cases-AU2607302
Maternal
Multiplex
Segregated (CNV present in both affected individuals)
LSM3P5,WWOX
leppa_16_ASD_discovery_cases-AU3381303
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,VAT1L,WWOX
leppa_16_ASD_discovery_cases-AU4010301
Unknown
Unknown
Unknown
KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,VAT1L,WWOX
leppa_16_ASD_discovery_cases-AU4112303
Unknown
Unknown
Unknown
PPIAP50,KRT8P22,CLEC3A,NUDT7,VAT1L,LINC02131
levy_11_ASD_discovery_cases-11581.p1
Maternal
Simplex
Segregated
MIR4719,VN2R10P,LINC02125,MON1B,SYCE1L,ADAMTS18,NUDT7,LINC02131
levy_11_ASD_discovery_cases-11677.p1
Maternal
Simplex
Segregated
TMEM170A,CHST6,TMEM231P1
levy_11_ASD_discovery_cases-12383.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
VAT1L
levy_11_ASD_discovery_cases-12540.p1
Paternal
Simplex
Not segregated
RPL18P13,RN7SKP233,CNTNAP4
lintas_17_ASD_discovery_cases-case4.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
WWOX
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
WWOX
marhsall_08_ASD_discovery_cases-NA0063-000
qPCR, qmPCR
Unknown
NA
NA
WDR59,ZNRF1
marshall_08_ASD_discovery_cases-NA0095-000
qPCR, qmPCR
Unknown
NA
NA
mosca_16_DCD_discovery_cases-case128203
Unknown
Multi-generational
Unknown
WWOX
o'roak_12_ASD_discovery_cases-case13815.p1
aCGH, Sanger sequencing
De novo
Simplex (quad)
Segregated
RPL18P13,RN7SKP233,CNTNAP4
pfundt_16_nonNDD_discovery_cases-case53
FA2H,WDR59
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Paternal
Multi-generational
Unknown
pinto_10_ASD_discovery_cases-case5208_3
qPCR, Illumina 1M-duo for sib
maternal
Multiplex
Not segregated
CNTNAP4 intronic
pinto_10_ASD_discovery_cases-case5321_3
Agilent1M
maternal
NA
NA
pinto_14_ASD_discovery_cases2-case20042_1249001
qPCR
Maternal
Simplex
(not tested)
VN2R10P
poultney_13_ASD_discovery_cases-case05HI3885A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CLEC18B
poultney_13_ASD_discovery_cases-case05HI4123A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CLEC18B
poultney_13_ASD_discovery_cases-caseHI4340
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CLEC18B
prasad_12_ASD_discovery_cases-case137484
Unknown
Unknown
Unknown
VAT1L,CLEC3A,WWOX
prasad_12_ASD_discovery_cases-case36773
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case50005
Unknown
Unknown
Unknown
WWOX
prasad_12_ASD_discovery_cases-case60351
Unknown
Unknown
Unknown
WDR59
prasad_12_ASD_discovery_cases-case67953L
Unknown
Unknown
Unknown
VAT1L,CLEC3A
prasad_12_ASD_discovery_cases-case81352
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85287L
Unknown
Unknown
Unknown
WWOX
qiao_12_ASD_discovery_cases-case10-45A
QMPSF
Paternal
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case14098
FISH
Unknown
Unknown
Unknown
WDR59,ZNRF1,LDHD,ZFP1,CTRB2,CTRB1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1296-0
qPCR
Paternal
Unknown
Unknown
WDR59
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-188
qPCR
Maternal
Unknown
Unknown
CHST6,TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11059.p1
Paternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-11097.p1
Maternal
Simplex (trio)
NA
KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,WWOX
sanders_11_ASD_discovery_cases-11107.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11129.p1
Paternal
Simplex (trio)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11156.p1
Paternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-11198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11224.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11265.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11285.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11334.p1
Paternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-11336.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11368.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11400.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11441.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11459.p1
Maternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-11472.p1
Unknown
Simplex (quad-proband matched)
Segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11475.p1
Paternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-11476.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11491.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11501.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11512.p1
Paternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-11526.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11569.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11575.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VN2R10P,MON1B,SYCE1L,ADAMTS18,NUDT7,LINC02131
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4719,LINC02125
sanders_11_ASD_discovery_cases-11625.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11630.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-11677.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM170A,CHST6
sanders_11_ASD_discovery_cases-11693.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11797.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLEC3A
sanders_11_ASD_discovery_cases-11825.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11909.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KRT8P22,CLEC3A
sanders_11_ASD_discovery_cases-11977.p1
Paternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-12030.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12091.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12180.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM170A
sanders_11_ASD_discovery_cases-12227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12274.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12350.p1
Maternal
Simplex (trio)
NA
KRT8P22,CLEC3A
sanders_11_ASD_discovery_cases-12350.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12358.p1
Maternal
Simplex (quad-proband matched)
Not segregated
WWOX
sanders_11_ASD_discovery_cases-12383.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
VAT1L
sanders_11_ASD_discovery_cases-12404.p1
Maternal
Simplex (trio)
NA
CHST5
sanders_11_ASD_discovery_cases-12494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CHST5,TMEM231
sanders_11_ASD_discovery_cases-12540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPL18P13,RN7SKP233,CNTNAP4
sanders_11_ASD_discovery_cases-12558.p1
Maternal
Simplex (trio)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12614.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12617.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12651.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12681.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4719,VN2R10P,MON1B,SYCE1L,ADAMTS18
sanders_11_ASD_discovery_cases-12729.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12843.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12859.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-12998.p1
Maternal
Simplex (trio)
NA
WWOX
sanders_11_ASD_discovery_cases-13001.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13089.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-13093.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-13150.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13171.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13187.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_cases-13196.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13199.p1
Maternal
Simplex (trio)
NA
RPS3P7,WWOX
sanders_11_ASD_discovery_cases-13216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLEC3A
sansovic_17_DD/ID/ASD_discovery_cases-case100
Unknown
PPIAP50,KRT8P22,CLEC3A,ADAMTS18,NUDT7,VAT1L,LINC02131,WWOX
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
WWOX
stamouli_18_ASD/NDD_discovery_cases-family59_Twin_1
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
WWOX
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Possibly segregated (present in affected sister, status in unaffected brother unknown)
WWOX
yap_21_ASD_discovery_cases-case1101217
Paternal
CTRB1,TERF2IP,RFWD3,WDR59,TMEM231,FA2H,ZNRF1,ATP5PBP7,TMEM170A,LDHD,MLKL,ZFP1,CTRB2,DUXB,KARS1,CHST6,TMEM231P1,TMPOP2,RNA5SP430,CPHXL,RN7SL520P,RNU6-758P,BCAR1,GABARAPL2,CFDP1,CHST5,ADAT1
yingjun_17_ASD_discovery_cases-case7769
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RPS3P7,WWOX
yin_16_ASD_discovery_cases-case503
Unknown
Unknown
Unknown
TMPOP2,RFWD3,MLKL
yin_16_ASD_discovery_cases-case504
Unknown
Unknown
Unknown
MIR4719
yin_16_ASD_discovery_cases-case505
Unknown
Unknown
Unknown
WWOX
yin_16_ASD_discovery_cases-case506
Unknown
Unknown
Unknown
WWOX
yin_16_ASD_discovery_cases-case507
Unknown
Unknown
Unknown
WWOX
yuan_23_ASD_discovery_cases-qma01777s000
De novo
TMEM231,TMEM170A,CHST6,TMEM231P1,CFDP1,CHST5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10025
Unknown
LSM3P5,WWOX
engchuan_15_ASD_discovery_controls-control110036005619_
Unknown
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
Unknown
LSM3P5,WWOX
engchuan_15_ASD_discovery_controls-controlB157139_1007853600
Unknown
WWOX
engchuan_15_ASD_discovery_controls-controlB706383_1007844446
Unknown
WWOX
engchuan_15_ASD_discovery_controls-controlB719092_1007853947
Unknown
TMEM170A,CHST6,TMEM231P1
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
Unknown
KRT8P22,CLEC3A
engchuan_15_ASD_discovery_controls-controlB972803_1007842434
Unknown
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
Unknown
NUDT7,VAT1L,LINC02131
engchuan_15_ASD_discovery_controls-controlB980109_1007875790
Unknown
WWOX
engchuan_15_ASD_discovery_controls-controlHABC_900062_900062
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
Unknown
LSM3P5,WWOX
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900199_900199
Unknown
WWOX
engchuan_15_ASD_discovery_controls-controlHABC_900260_900260
Unknown
VN2R10P,MON1B,SYCE1L,ADAMTS18
engchuan_15_ASD_discovery_controls-controlHABC_900386_900386
Unknown
MIR4719
engchuan_15_ASD_discovery_controls-controlHABC_900391_900391
Unknown
WWOX
engchuan_15_ASD_discovery_controls-controlHABC_900436_900436
Unknown
WWOX
engchuan_15_ASD_discovery_controls-controlHABC_900509_900509
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
Unknown
RNA5SP431
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
Unknown
WWOX
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
Unknown
VN2R10P,ADAMTS18
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
Unknown
CLEC3A
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
Unknown
CLEC3A
kanduri_15_ASD_discovery_controls-control_split1501
Unknown
CHST5,TMEM231
kanduri_15_ASD_discovery_controls-control_split1894
Unknown
CLEC3A
kanduri_15_ASD_discovery_controls-control_split249
Unknown
Intergenic CNV: nearest genes, LOC100506172(dist=675633),LOC101928035(dist=63740)
kanduri_15_ASD_discovery_controls-control_split266
Unknown
WWOX
krumm_13_ASD_discovery_controls-control11797.s1
Paternal
Simplex
CLEC3A
krumm_13_ASD_discovery_controls-control13216.s1
Paternal
Simplex
CLEC3A
krumm_13_ASD_discovery_controls-control13493.s1
Paternal
Simplex
VAT1L
krumm_13_ASD_discovery_controls-control13621.s1
Paternal
Simplex
RNU6-758P,GABARAPL2,TMEM170A,CHST6,TMEM231P1,CHST5,TMEM231,ADAT1,BCAR1,CFDP1,KARS,TERF2IP
krumm_15_ASD_discovery_controls-control12320.s1
Illumina 1MDuo
Maternal
PSMD7,NPIPB15,CLEC18B
krumm_15_ASD_discovery_controls-control12540.s1
Illumina 1MDuo
Paternal
RN7SKP233,CNTNAP4
krumm_15_ASD_discovery_controls-control13493.s1
1M-Duov3
Paternal
VAT1L
krumm_15_ASD_discovery_controls-control13621.s1
1M-Duov3
Paternal
CTRB2,CTRB1,RNU6-758P,GABARAPL2,TMEM170A,CHST6,TMEM231P1,CHST5,TMEM231,ADAT1,BCAR1,CFDP1,KARS,TERF2IP
kushima_18_ASD/SCZ_discovery_controls-controlCON0798
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CNTNAP4
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0798
qRT-PCR
Unknown
SNORD33,CNTNAP4
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0843
qRT-PCR
Unknown
CNTNAP4
levy_11_ASD_discovery_controls-12540.s1
Paternal
Simplex
NA
RPL18P13,RN7SKP233,CNTNAP4
nord_11_ASD_discovery_controls-04C28320
0 genes
poultney_13_ASD_discovery_controls-control05C39410A
Unknown
CLEC18B
poultney_13_ASD_discovery_controls-control05C39822A
Unknown
CLEC18B
poultney_13_ASD_discovery_controls-control05C44954
Unknown
CNTNAP4
sanders_11_ASD_discovery_controls-11008.s1
Paternal
Simplex (quad)
NA
RPS3P7,WWOX
sanders_11_ASD_discovery_controls-11028.s1
Maternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-11172.s1
Maternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-11187.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11197.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11198.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11285.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11289.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11400.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11432.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-11700.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11797.s1
Paternal
Simplex (quad)
NA
CLEC3A
sanders_11_ASD_discovery_controls-11883.s1
Paternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-11905.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11918.s1
Maternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-11977.s1
Paternal
Simplex (quad)
NA
WWOX
sanders_11_ASD_discovery_controls-12037.s1
Maternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-12037.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12062.s1
Paternal
Simplex (quad)
NA
KRT8P22,CLEC3A
sanders_11_ASD_discovery_controls-12091.s1
Maternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-12100.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12153.s1
Paternal
Simplex (quad)
NA
CNTNAP4
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
WWOX
sanders_11_ASD_discovery_controls-12345.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12368.s1
Maternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-12424.s1
Maternal
Simplex (quad)
NA
WWOX
sanders_11_ASD_discovery_controls-12440.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12540.s1
Paternal
Simplex (quad)
NA
RPL18P13,RN7SKP233,CNTNAP4
sanders_11_ASD_discovery_controls-12651.s1
Paternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-12729.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12851.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12859.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Paternal
Simplex (quad)
NA
TMEM231P1,CHST5,TMEM231
sanders_11_ASD_discovery_controls-13089.s1
Paternal
Simplex (quad)
NA
CHST5,TMEM231
sanders_11_ASD_discovery_controls-13171.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13216.s1
Paternal
Simplex (quad)
NA
CLEC3A
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_1
Unknown
N/A (both twins typically developing)
WDR59
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_2
Unknown
N/A (both twins typically developing)
WDR59
wang_10_ASD_discovery_controls-Aut148
Unknown
NA
NA
KRT8P22,WWOX-AS1,LSM3P5,CLEC3A,VAT1L,WWOX
No Animal Model Data Available