9p24.3CNV Type: Deletion-Duplication
Largest CNV size: 1359859 bp
Statistics Box:
Number of Reports: 40
Number of Reports: 40
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Familial KANK1 deletion that does not follow expected imprinting pattern.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
Deletion-Duplication
Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
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
274542
1
0
1
capkova_21_ASD/ADHD/DD/ID_discovery_cases
Patients with ASD and DD/ID referred to genetics consultation at the Department of Medical Genetics, University Hospital Olomouc (Czech Republic)
3
All three cases were diagnosed with ASD; furthermore, two cases were diagnosed with ADHD
Range, 3.5-7 yrs.
Male
261133
0
4
4
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
197571
0
1
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
135951
0
3
3
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
67123
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
192716
0
3
3
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
40000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
640708
3
12
15
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
304280
0
2
2
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
504196
5
3
8
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
293998
1
3
4
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
20633
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1461531
3
6
9
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
1466427
3
1
4
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
384859
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
116333
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1312174
10
14
24
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
26107
1
0
1
krgovic_18_ASD/DD/ID/MDD_discovery_cases
Children with neurodevelopmental disorders screened for CNVs between 2011 and 2017 (Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia)
439
226 probands with a primary diagnosis of ASD, 183 probands with a primary diagnosis of developmental delay/intellectual disability, and 30 probands with a primary diagnosis of ADHD (diagnoses based on DSM-5 criteria, with additional diagnostic evaluation for intellectual disability and ASD using the Weschler Intelligence Scale for Children and ADOS, respectively)
Mean, 8.1 years
68.3% Male
67124
1
2
3
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
308992
0
4
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
380334
0
11
11
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
390953
1
0
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
390953
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
448220
0
2
2
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
192714
0
1
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
334357
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
338000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
1779834
2
1
3
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
337000
0
1
1
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
199013
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
387452
2
3
5
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)
138553
1
1
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
277538
1
1
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
444360
27
14
41
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
94777
1
1
2
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
114813
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
1359859
0
3
3
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
30217
0
1
1
vanzo_13_ASD/ID_discovery_cases
10-year-old male proband born to family with medical history negative for consanguinity, known genetic conditions, and neurodevelopmental problems.
1
Diagnosis of ASD given at age of 4 years (diagnostic tools N/A); additional diagnoses of intellectual disability (score of 49 on Kaufman Cognitive Assessment Battery for Children; mean of 100) and motor and speech delays
10 yrs.
Male
192000
1
0
1
vanzo_18_ASD/DD/ID_discovery_cases
Individuals from a database of 22,054 patients who underwent clinical CMA testing from September 2010-December 2017 that were identified with CNVs encompassing the KANK1 gene
28
All cases presented with ASD and/or developmental delay/intellectual disability (DD/ID)
Range, 0.9-16.7 yrs.
75.0% Male
363000
16
12
28
wang_18_TS_replication_cases
Probands from 120 trio families not previously screened by whole-exome sequencing in the discovery cohort
120
Probands diagnosed with Tourette syndrome
N/A
N/A
192138
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
177876
0
3
3
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
48395
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
571379
5
25
30
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
279409
0
1
1
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
0
2
2
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
0
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
43366
2
0
2
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
125813
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
184751
0
6
6
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
157029
3
5
8
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
48647
0
2
2
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)
112755
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
216581
21
13
34
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
177876
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
capkova_21_ASD/ADHD/DD/ID_discovery_cases
Czech Republic
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
MLPA
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krgovic_18_ASD/DD/ID/MDD_discovery_cases
Slovenia
aCGH
BlueGnome CytoChip Oligo 8x60K, BlueGnome CytoChip Oligo 4x180K
BlueFuse Multi v3.1
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
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_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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
vanzo_13_ASD/ID_discovery_cases
White
Array SNP
Affymetrix 2.7M
FISH
vanzo_18_ASD/DD/ID_discovery_cases
N/A
Array SNP
FirstStep Dx; Affymetrix CytoScan HD, Affymetrix 2.7
None
wang_18_TS_replication_cases
N/A
Exome Array
Illumina HumanOmniExpressExome-8 v.1
PennCNV
Illumina GenomeStudio, PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case81
0.5 yrs.
M
Hypertonia, normal deep tendon reflexes. Growth parameters: height 0.64 m, weight 4.4 kg, head circumference 41 cm. Family history: 1 deceased sibling; born to consanguineous parents.
154933
429474
274542
GRCh38
Deletion
No
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case1
7 yrs.
M
ASD, ADHD, developmental delay, and intellectual disability
Birth/neonatal history: uneventful pregnancy; premature birth (36 weeks gestation) with spontaneous delivery; birth weight 2500 g (50th %ile), birth length 48 cm (60th %ile). Developmental milestones: normal development until 18 months of age (speech delay). Behavioral/psychiatric evaluation: hyperactivity and sleep disorder observed at 18 months; diagnosis of ADHD at 3 years; diagnosis of ASD at 5 years. Additional medical history: treated for bronchial asthma t 1 years; hearing impairment diagnosed at 3 years. Dysmorphic features: short philtrum, broad nasal bridge. Growth parameters: obesity (BMI 28.7); height 116 cm (3rd %ile), weight 38.6 kg (>97th %ile), and head circumference 54 cm (88th %ile) at 7 years. Family history: born to non-consanguineous Caucasian parents; mother had been treated for epilepsy with no reports of other monogenic diseases or neurodevelopmental disorders, clinical profile of the father was unavailable; one healthy older sister by a different father who was healthy; the second sister shared the same father as the patient and presented with dyslalia, ADHD. compulsive behaviors, overweight (BMI 25, weight >97th %ile), and facial features similar to her brother (this individual also inherited the same 9p24.3 duplication as her brother).
Mild intellectual disability
271532
440683
169152
GRCh38
Duplication
Yes
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case2
3.5 yrs.
M
ASD, ADHD, and developmental delay
Birth/neonatal history: mother experienced syncope and olfactory aura during the third trimester; delivery by elective caesarean section at 37 weeks gestation; birth weight 2950 g (60th %ile), birth length 50 cm (75th %ile). Developmental milestones: normal development until 15 months (speech delay observed). Behavioral/psychiatric evalation: stereotyped movements, negativistic and aggressive behavior, and hyperactivity observed at 15 months; diagnoses of ASD and ADHD at 3 years. Additional medical history: suspected hypoacusis. Growth parameters: macrocephaly; height 102 cm (50th %ile), weight 16 kg (50th %ile), BMI 15.4, and head circumference 53 cm (>97th %ile) at 3.5 years. Family history: first child of non-consanguineous Caucasian parents without ASD or DD/ID (the mother had latent tetany, and there was a maternal family history of Bekhterev's disease and Raynaud syndrome, while the father had been treated for Crohn's disease); no family history on either side of monogenic diseases or neurodevelopmental disorders.
516411
664333
147923
GRCh38
Duplication
No
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case2
3.5 yrs.
M
ASD, ADHD, and developmental delay
Birth/neonatal history: mother experienced syncope and olfactory aura during the third trimester; delivery by elective caesarean section at 37 weeks gestation; birth weight 2950 g (60th %ile), birth length 50 cm (75th %ile). Developmental milestones: normal development until 15 months (speech delay observed). Behavioral/psychiatric evalation: stereotyped movements, negativistic and aggressive behavior, and hyperactivity observed at 15 months; diagnoses of ASD and ADHD at 3 years. Additional medical history: suspected hypoacusis. Growth parameters: macrocephaly; height 102 cm (50th %ile), weight 16 kg (50th %ile), BMI 15.4, and head circumference 53 cm (>97th %ile) at 3.5 years. Family history: first child of non-consanguineous Caucasian parents without ASD or DD/ID (the mother had latent tetany, and there was a maternal family history of Bekhterev's disease and Raynaud syndrome, while the father had been treated for Crohn's disease); no family history on either side of monogenic diseases or neurodevelopmental disorders.
203860
398865
195006
GRCh38
Duplication
Yes
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case3
4.5 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: the patient was fetus B of a multiple pregnancy (fetus A underwent fetal death spontaneously); normal delivery; birth weight and length unavailable. Developmental milestones: delays in all developmental areas noted by 13 months. Language and communication evaluation: mild paleocerebellar aphasia. Motor and musculoskeletal evaluation: flat feet. Behavioral/psychiatric evaluation: diagnosis of ASD at 4.5 years based on autistic features (absence of speech, lack of understanding of communication, avoidance of social contact). Brain imaging: normal. Additional medical history: incontinence, testicular retention. Dysmorphic features: none. Growth parameters: weight 14 kg (3rd %ile) and head circumference 50 cm (25th %ile) at 4.5 years. Family history: first child of non-consanguineous Caucasian parents; mother was treated for cyclic bleeding disorders, but no monogenic disease or neurodevelopmental disorders were reported for either parent.
Intellectual disability
10000
271132
261133
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case89
N/A
F
ASD
Autism, speech and/or language delay or impairment, motor difficulties and facial dysmorphism
319876
517446
197571
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case12
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
204192
340142
135951
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case17
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
204192
266104
61913
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case19
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
314968
416351
101384
GRCh38
Duplication
No
costa_21_ASD_discovery_cases-caseP47
NA
F
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: cardiac and gastrological alterations (celiac disease), recurrent respiratory infections, hypotonia.
172363
239485
67123
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case144
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
204192
396907
192716
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case248
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
288160
396907
108748
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case323
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
204192
266104
61913
GRCh38
Duplication
No
egger_14_ASD_discovery_cases-caseA27
19 yrs. (born 1995)
M
ASD
Diagnosis: atypical autism. Co-morbidities/additional features: horseshoe kidney, hypermetropia +5dpt. Family history: brother has ADHD
Cognitive impairment (IQ 60-80)
268740
309066
40327
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13081_953
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
161562
272325
110764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13185_2023
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185632
290841
105210
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14163_2670
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
161562
396836
235275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14334_4480
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
202118
351793
149676
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17023_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1315843
1524186
208344
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1957_303
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
253594
372341
118748
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20024_1116001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
589571
629468
39898
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2302_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
202118
425228
223111
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3152_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
202118
351793
149676
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3315_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102645
743353
640709
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3423_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185632
396836
211205
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3570_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78775
442030
363256
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4448_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
264347
433978
169632
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5032_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
108998
344508
235511
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case8668_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
240321
398673
158353
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0001510
N/A
M
ASD
Family history: mother presents with depression.
116800
421079
304280
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0019310
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
676973
745236
68264
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1094301
Autism
1211840
1429567
217728
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1094302
Autism
1211840
1429567
217728
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1312302
Autism
510886
605310
94425
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1453303
Autism
254347
352749
98403
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1483302
Autism
428779
490979
62201
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1483303
Autism
428779
490979
62201
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1496302
Autism
36587
540782
504196
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1525303
Autism
381463
479338
97876
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU001505
Autism
396117
611779
215663
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU015203
Autism
1690272
1724456
34185
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0941301
Autism
317782
611779
293998
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU0941302
Autism
319462
607501
288040
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case577-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
468705
489338
20634
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11630.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
339883
534731
194849
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11909.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
534331
740114
205784
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12316.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
632915
1063928
431014
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12590.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
217823
326999
109177
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13879.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
428382
603694
175313
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14349.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
203904
1665435
1461532
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU001505
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
416092
617282
201191
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1483302
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
435727
509569
73843
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1496302
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
172164
556825
384662
GRCh38
Duplication
Yes
girirajan_13a_DD_discovery_cases-DDcase130
N/A
N/A
Developmental delay
N/A
N/A
217823
326999
109177
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase131
N/A
N/A
Developmental delay
N/A
N/A
217823
326999
109177
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase132
N/A
N/A
Developmental delay
N/A
N/A
217823
326999
109177
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase133
N/A
N/A
Developmental delay
N/A
N/A
217823
1684250
1466428
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-30708110281
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
46401
431260
384860
GRCh38
Duplication
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-306-04
N/A
F
ASD
GI problems
201001
362800
161800
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000085
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
295405
91213
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000093
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
229198
381489
152292
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000164
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
1516367
1312175
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000381
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
381489
177297
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000477
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
1288113
1083921
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000607
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
266104
61912
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000900
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
839152
2094920
1255769
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001247
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
332515
128323
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001252
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
280314
76122
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001976
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
242962
389294
146333
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002125
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
211086
274576
63491
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002381
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
52389
356138
303750
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002396
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
313298
472145
158848
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003824
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
229257
25065
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003833
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
220053
295546
75494
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003873
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
556625
789845
233221
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003929
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
381489
177297
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004000
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
220253
1243237
1022985
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004185
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
472086
602792
130707
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004279
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
315028
110836
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004927
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
177560
340142
162583
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005128
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
381430
839211
457782
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005180
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146194
389294
243101
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005427
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
203993
500725
296733
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3070
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
432918
459024
26107
Unknown
Deletion
No
krgovic_18_ASD/DD/ID/MDD_discovery_cases-case1
15 yrs.
F
MDD
Case was diagnosed with major depressive disorder (MDD) and non-suicidal self-injuring (NSSI) according to DSM-5. Birth/neonatal history: induced birth in the 8th month of pregnancy (pregnancy was risky due to insufficient placental development); birth weight of 1880 g (60th %ile), length of 47 cm (97th %ile), and head circumference of 26 cm (3rd %ile). Developmental milestones: walking at 13 months, speech problems treated by speech therapist. Language and communication evaluation: minor articulation problems. Behavioral/psychiatric evaluation: depression, non-suicidal self-injuring, aggressive outbursts, occasional use of psychoactive substances; limited attention span. Dysmorphic features: palatoschisis (surgically corrected). Growth parameters: microcephaly; head circumference of 52 cm (5th %ile). Family history: born to non-consanguineous Caucasian parents; father diagnosed with alcohol dependence.
Problems at school (esp. in mathematics); WISC evaluation revealed that overall level of functioning was average, although an abnormal scatter within the verbal and performance scales was detected and her skills ranged from below to above average; significant diffculties in working memory; below average processing speed on D2 Test of Attention
204193
271316
67124
GRCh38
Duplication
No
krgovic_18_ASD/DD/ID/MDD_discovery_cases-case2
12 yrs.
F
ID and psychotic disorder
Case was diagnosed with mild intellectual disability and a recurrent psychotic disorder according to DSM-5. Birth/neonatal history: born at 35 weeks gestation following in vitro fertilization; birth weight of 1800 g (7th %ile) and length of 48 cm (48th %ile). Developmental milestones: walking at 14 months, first words at 12 months. Language and communication evaluation: normal speech with periods of mutism. Behavioral/psychiatric evaluation: problems with attention and concentration; aggressive behavior, mood swings characterized by euphoric moments but more commonly depressive or irritable moods and rage. Seizures/epilepsy: none. EEG: interictal EEG at 7.5 years showed irregular and diminished activity with changes in the right centrotemporal region. Dysmorphic features: none. Family history: born to non-consanguineous Caucasian parents; twin brother diagnosed with ASD (negative for DOCK8 deletion); mother with a history of depression with psychotic symptoms at ages of 17 and 36 years.
Mild intellectual disability
204221
266075
61855
GRCh38
Deletion
No
krgovic_18_ASD/DD/ID/MDD_discovery_cases-case3
9 yrs.
F
ASD and ID
Case was diagnosed with ASD with mild-to-moderate intellectual disability and accompanying language impairment according to DSM-5 and ADOS. Birth/neonatal history: born 5 days after expected due date; birth weight of 3325 g (50th %ile) and length of 50 cm (50th %ile). Developmental milestones: normal. Language and communication evaluation: articulation problems, impaired social communication. Behavioral/psychiatric evaluation: aggressive outbursts, mood changes, tearfulness, stubbornness, repetitive patterns of behavior, inflexible order and routine in everyday life, sensory hyperactivity. Additional medical history: tension headaches. Dysmorphic features: none. Family history: only child of healthy non-consanguineous Caucasian parents.
Mild-to-moderate intellectual disability
204221
271287
67067
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case11316.p1
N/A
F
ASD
ASD proband from SSC quad family 11316. SRS score of 90.
Full-scale IQ (FSIQ) score of 47.
271626
407069
135444
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11353.p1
N/A
F
ASD
ASD proband from SSC quad family 11353. SRS score of 90.
Full-scale IQ (FSIQ) score of 79.
286460
407069
120610
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12106.p1
N/A
M
ASD
ASD proband from SSC quad family 12106. SRS score of 88.
Full-scale IQ (FSIQ) score of 112.
172080
340321
168242
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12655.p1
N/A
M
ASD
ASD proband from SSC quad family 12655. SRS score of 76.
Full-scale IQ (FSIQ) score of 48.
368017
677009
308993
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11316.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
271626
407069
135444
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11630.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
339005
464219
125215
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11909.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
676941
742407
65467
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12316.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
676941
1057275
380335
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12655.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
368017
677009
308993
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12742.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
271626
372286
100661
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12854.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
214508
334384
119877
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13085.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
214508
271729
57222
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13300.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
271626
332478
60853
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14102.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
846959
916909
69951
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14387.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
271626
399259
127634
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1745
50 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
10000
400952
390953
GRCh38
Deletion
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1745
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
10000
400952
390953
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12106.p1
NA
M
ASD
NA
NA
202721
361314
158594
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12316.p1
NA
M
ASD
NA
NA
625079
1073298
448220
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case9.1
N/A
N/A
PDD-NOS
No additional clinical information available
204193
396907
192715
GRCh38
Duplication
Yes
li_18_ASD_discovery_cases-case5901
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
580727
915084
334358
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case8601
NA
ASD
NA
NA
36000
374000
338000
Unknown
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253202
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
10001
1056368
1046368
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC18306
N/A
F
MCA
Database: Signature. Indication for study: Cleft Palate, Multiple Congenital Anomalies, arr cgh 9p24.3(RP11-59O6->RP11-443B9)x1
198713
1978547
1779835
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36818
N/A
F
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features
204366
649340
444975
GRCh38
Duplication
Yes
oikonomakis_16_ASD_discovery_cases-case350
38 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: microotia, retrognathia, cryptorchidism
ID
288161
625573
337413
GRCh38
Duplication
No
panigrahi_24_ASD/DD/ID_discovery_cases-case5
3.5 yrs.
M
ASD and developmental delay
Global developmental delay, autism spectrum disorder
340662
539674
199013
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1957_303
NA
F
Autism
Verbal
Normal IQ
253594
372341
118748
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case2234_1
NA
M
Autism
Language delay, no dysmorphic features, significant hypotonia but walked at 18 m, normal neurological exam, no epilepsy
NA
175632
422918
247286
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case2238_1
NA
M
Autism
Language delay, limited language, no dysmorphic features, constipation, hay fever, no epilepsy
MR
600460
694075
93615
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5032_4
NA
M
Autism
Below average language, history of seizures, no dysmorphic features
Above average nonverbal IQ,
108998
344508
235511
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5275_3
NA
F
ASD
Below average language (2%ile), no epilepsy, no dysmorphic features
Low average nonverbal IQ (13%ile)
288719
676170
387452
Unknown
Duplication
Yes
poultney_13_ASD_discovery_cases-case03HI2532A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0941301; NDAR ID NDAR_INVUA823VB2)
325669
464221
138553
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4654A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1483302; NDAR ID NDAR_INVKD574WAC)
439243
464221
24979
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case20927
NA
NA
ASD
NA
NA
506320
678162
171842
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case21771
NA
NA
ASD
NA
NA
1241590
1519128
277538
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
510546
529916
19371
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11089.p1
5.8
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 39
1894388
1901668
7281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11316.p1
11.7
F
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 45; verbal IQ, 21
249281
410312
161032
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
174447
272325
97879
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11328.p1
7.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
1411571
1568941
157371
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11353.p1
5.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
249281
410312
161032
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
1444746
1450428
5683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11400.p1
8.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
583025
596826
13802
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
46587
61162
14576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11584.p1
11.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
1499641
1513917
14277
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
341063
544956
203894
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
95343
191843
96501
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11664.p1
7.3
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
108998
161562
52565
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
811618
828348
16731
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11894.p1
5.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
1275707
1297949
22243
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
526772
743353
216582
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11978.p1
9.1
F
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12063.p1
8.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
583025
594579
11555
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12073.p1
5.9
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
108998
191843
82846
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
132722
362209
229488
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
46587
61162
14576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
583025
594579
11555
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12316.p1
12.5
M
ASD
NA
Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
628788
1073148
444361
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
1486005
1492266
6262
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
343981
354913
10933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12655.p1
8.9
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
347559
699065
351507
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12655.p1
8.9
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
788730
864122
75393
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
257973
380856
122884
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12979.p1
4.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
185632
217597
31966
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
1499641
1513917
14277
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
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
320149
322233
2085
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT194
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD. Case also presented with absent speech.
220252
315028
94777
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT46
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
300305
371857
71553
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case251
NA
F
Developmental delay and intellectual disability
Global developmental delay, facial dysmorphism.
Mild/moderate intellectual disability
204089
318901
114813
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR050-H5-HI2533
NA
ASD
NA
NA
249391
569992
320602
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR064-F8-HI2081
NA
ASD
NA
NA
249391
1609250
1359860
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR069-C1-HI2941
NA
ASD
NA
NA
249391
569992
320602
GRCh38
Duplication
Yes
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
380095
410312
30218
GRCh38
Duplication
No
vanzo_13_ASD/ID_discovery_cases-case1
10 yrs.
M
ASD and ID
Diagnosis of ASD at 4 years of age (diagnostic tools N/A). Kaufman Survey of Early Academic and Language Skills Assessment (administered at age of 6 years 7 months) showed deficits in communication skills, gross and fine motor skills, and social skills equivalent to a 2-4 year old range. Birth/neonatal history: uncomplicated pregnancy, delivery at term by scheduled C-section; birth weight 3.6 kg; Apgar scores of 8 (1 minute) and 9 (five minutes); mild jaundice that did not require intervention; no other perinatal and early developmental concerns. Developmental milestones: sat at 6 months, walked at 12 months; aberrant development (speech delay, lack of babbling, texture aversion) initially documents at age of 18 months; fine motor and speech delay noted at 24 months, which prompted referral to local early intervention program. Language and communication evaluation: receptive and expressive language delays. Motor and musculoskeletal evaluation: deficits in gross and fine motor skills; normal deep tendon refluxes with clonus, hypotonia, ataxic gait, toe-walking. Behavioral/psychiatric evaluation: hand flapping and repetitive movements. Brain imaging: not performed. Visual evaluation: no identified problems. Dysmorphic features: N/A. Growth parameters: height of 139.7 cm (80th %ile), weight of 39.5 kg (90th %ile), and head circumference of 57.2 cm (>97th %ile) at age of 10 years. Family history: negative family history for consanguinity, known genetic conditions, and neurodevelopmental problems; other known 9p24.3/KANK1 deletion carriers (proband's father, maternal grandmother, and older brother) have no clinical features of ASD, developmental delay/intellectual disability, cerebral palsy, or other neurological problems.
Intellectual disability; score of 49 (mean=100, SD=15) on Kaufman Cognitive Assessment Battery for Children administered at age of 9 years 5 months.
534324
726308
191985
GRCh38
Deletion
Yes
vanzo_18_ASD/DD/ID_discovery_cases-case1
14.2 yrs.
M
ASD and epilepsy
Autism spectrum disorder and partial complex epilepsy controlled with medications; seizures do not impair social life, functions, or activity. History of speech delay but improvement. Normal motor function. No dysmorphic features.
420426
564836
144411
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case10
2.9 yrs.
M
Developmental delay
Delayed milestones in childhood, spells, currently non-verbal, follows commands. Has ptosis with weakness on downgaze, full flat nasal bridge, upturned nasal tip.
608682
705168
96487
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case11
14.7 yrs.
M
ASD, developmental delay, and seizures
Autism, developmental disorder of speech and language, gastroesophageal reflux disease (GERD), craniosynostosis, mesotopic ridge, autism spectrum disorder, global developmental delay, seizures (absence and partial complex), renal tubular acidosis, phimosis, dysautonomia, spastic diplegia cerebral palsy, hypotonia, sleep apnea, and metopic synostosis. At two weeks of age had salmonella infection which likely caused hearing loss. History of failure to thrive, currently uses a gastric tube. Reported to be less likely to sweat and tended to turn beet red, become irritable, and lethargic. Next Generation Sequencing revealed a VOUS in SAMD9/MIRAGE syndrome (autosomal dominant)/Normophosphatemic familial tumoral calcinosis (autosomal recessive).
608682
705931
97250
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case12
4.2 yrs.
F
ASD
Autism spectrum disorder with mixed receptive-expressive language disorder. Normal gross and fine motor skills. Disruptive behavior disorder with aggression, sleep issues, and feeding issues. Patient is African American. Fetal alcohol exposure.
611150
694453
83304
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case13
5.9 yrs.
F
Developmental coordination disorder and speech sound disorder
IEP in school for developmental coordination disorder and speech sound disorder. Patient is African American and has axillary and pubic hair; Tanner stage 1 (breast) and 2 (pubic hair); bone age within normal limits (2 months advanced). Fetal alcohol exposure. Height is 4th centile, weight is 54th centile, BMI is 93rd centile.
611150
694567
83418
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case14
7.1 yrs.
M
ADHD and developmental delay
Delayed milestones in childhood, ADHD, cognitive delay, speech delay. Patient is noted to be ambidextrous.
611151
705528
94378
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case15
4.5 yrs.
M
ASD and developmental delay
Autism spectrum disorder, sensory processing difficulty, developmental delay, and toe walking gait. Patient has sleeping difficulties.
611189
705168
93980
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case16
10.2 yrs.
M
ASD and epilepsy
Autism Spectrum disorder and focal epilepsy. History of developmental regression at age 2 years. Abnormal motor, speech, and cognitive functions; multiple disability unit at school, receives speech & occupational therapies. Hashimotos thyroiditis. Next Generation Sequencing revealed a VOUS in each of four genes related to autosomal recessive conditions: MANBA/beta-mannosidosis; PCCA/propionic acidemia; ROGDI/Kohlschutter-Tonz syndrome; and TPO/thyroid dyshormonogenesis 2A
Abnormal cognitive function
706502
730054
23553
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case17
12.4 yrs.
M
ASD
Autism spectrum disorder and mild cerebral palsy. The patient was born at 27 weeks gestation and remained in NICU for 3 months with several medical complications. Severe delays in receptive and expressive language at 12 years. Older sister with ASD does not have the maternally inherited CNVs on chromosome 9p24.3. No formal medical records for the mother (patient 32) but she is said to have ADHD, depression, anxiety, and a mood disorder.
408416
729135
320720
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case18
4.5 yrs.
M
ASD and developmental delay
Autism spectrum disorder and global developmental delay. Abbreviated IQ on Stanford-Binet is 79. Joint attention and social reciprocity improving with therapy. Mild dysmorphic features including full lips, large ears, small nose (fragile X testing negative). 5th finger clinodactyly. Mild ligament laxity. Apparently normal gross motor skills.
Abbreviated IQ on Stanford-Binet is 79
314208
512067
197860
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case19
7.6 yrs.
F
ASD and developmental delay
Autism spectrum disorder and developmental delay. Surgery for malrotation (neonate) and abdominal/intestinal adhesions (2.5 months) Dysphagia. Recently developed staring spells concerning for seizures. 3rd centile for both weight and height.
314208
518499
204292
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case2
7 yrs.
F
ASD and developmental delay
Delayed motor milestones and ASD. She is not toilet-trained and is behind her 4-year-old brother in development. Cognition assessed to be that of a 5-year-old (Developmental Profile, 3rd Edition). Eye surgery exotropia/esotropia. Also has myopia.
Cognition assessed to be that of a 5-year-old (Developmental Profile, 3rd Edition)
465300
539781
74482
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case20
5.8 yrs.
M
ASD, ADHD, and developmental delay
Autism spectrum disorder, impulsivity, and ADHD. History of developmental delay but IQ testing he had verbal comprehension index at 102. He also has normal motor function, bulk, tone, and gait.
IQ testing revealed verbal comprehension index at 102
314208
518675
204468
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case21
11.8 yrs.
M
Developmental delay
Delayed milestones in childhood and developmental disorder of speech and language. Patient has noted microcephaly, scoliosis, staring spells. Preterm birth at 36 weeks gestation due to IUGR.
379523
742934
363412
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case22
4.8 yrs.
M
Developmental delay
Delayed milestones in childhood and hypotonia, speech delay, feeding problems.
404371
613317
208947
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case23
5.9 yrs.
M
ASD
Autism spectrum disorder, frontal lobe and executive function deficit, encephalopathy. The patient had notable developmental regression at 1 year of age. Patient has delayed speech and insomnia.
445993
622360
176368
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case24
9.9 yrs.
M
ASD
Autism spectrum disorder (high-functioning), developmental speech, fine motor, and socialization delays. Anxiety and depression. Mild dysmorphic features. Normal tone and gross motor development.
460071
519546
59476
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case25
1.4 yrs.
M
Developmental delay
Development currently within low-normal range and historical improvement of mild expressive language delay with therapies. History of frenulectomy. Older full sister (patient 25) with classic autism spectrum disorder.
468704
742751
274048
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case26
10.4 yrs.
F
ASD
Autism spectrum disorder and anxiety. The patient was non-verbal until 3.5 years of age. Family history notable for mild developmental delay in younger full brother (patient 24)
468704
742751
274048
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case27
7.1 yrs.
F
Developmental delay/intellectual disability
Developmental delay, intellectual disabilities, microcephaly, petit mal seizures. Patient is loose jointed, thought to be Ehlers-Danlos Syndrome Type 3 at time of CMA referral. Patient has a known SMAD4 mutation resulting in hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome.
Intellectual disability
517445
633581
116137
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case28
1.3 yrs.
M
Developmental delay
Developmental delay, hypotonia, lack of coordination, lack of expected normal physiological development in childhood.
525290
813180
287891
GRCh38
Duplication
No
vanzo_18_ASD/DD/ID_discovery_cases-case3
6.4 yrs.
M
Learning difficulties and attention deficit disorder
ADD, learning difficulties, congenital facial (unable to close left eye) and ear malformation (smaller left ear)
Learning difficulties
480919
706265
225347
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case4
0.9 yrs.
M
MCA
Congenital heart anomaly (Ebstein's anomaly), laryngomalacia, dysmorphic features.
512066
579753
67688
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case5
8.7 yrs.
M
ASD and developmental delay/intellectual disability
Speech delay, lack of babbling, and texture aversion noted at 18 months of age. Fine motor delay and continued speech delay at 24 months of age. ASD diagnosed at age 4 years. Head circumference >97th centile. Hypotonia, ataxic gait, and intellectual disability. (Details available in Vanzo et. al. 2013).
Intellectual disability
534324
726308
191985
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case6
1.7 yrs.
M
ASD and developmental delay
Autism spectrum disorder and developmental delay. Hypotonia but able to walk and climb. Abnormal brain MRI with atypical T2 hyperintensity of white matter concerning for leukodystrophy. Macrocephaly with scaphocephaly and somewhat rectangular face.
592076
694567
102492
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case7
5.1 yrs.
F
ASD and developmental delay
Delayed milestones in childhood, autism spectrum disorder, and unspecified developmental disorder of speech and language. Premature birth at 31 weeks old by emergency cesarean due to preeclampsia and non-reassuring fetal status. NICU 26 days with CPAP support. Dysmorphism. Expressive-receptive language disorder.
608645
694567
85923
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case8
5.1 yrs.
M
ASD and developmental delay
Autism spectrum disorder and developmental delay. Slight antalgic gait to right but runs without difficulty. Obstructive sleep apnea (weight 30th centile; height 26th centile).
608682
694567
85886
GRCh38
Deletion
No
vanzo_18_ASD/DD/ID_discovery_cases-case9
16.7 yrs.
M
ASD
Autism, left sided congenital sensorineural hearing loss, hypotonia, precocious puberty, borderline cognitive skills, fine motor dyscoordination.
608682
694567
85886
GRCh38
Deletion
No
wang_18_TS_replication_cases-case25089.p1
N/A
N/A
Tourette syndrome
No additional clinical information available
268740
460877
192138
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case340
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
46587
224462
177876
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case341
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
46587
224462
177876
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case342
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
46587
224462
177876
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-control20080
N/A
F
Control
Control
331490
379884
48395
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036019842_
N/A
N/A
Control
No previous psychiatric history
185632
757011
571380
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB216574_1007873989
N/A
N/A
Control
No previous psychiatric history
327365
517715
190351
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB254070_1007852661
N/A
N/A
Control
No previous psychiatric history
341063
544956
203894
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB462693_1007873290
N/A
N/A
Control
No previous psychiatric history
526772
816742
289971
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB526636_1007854065
N/A
N/A
Control
No previous psychiatric history
377066
733374
356309
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB552332_1007854075
N/A
N/A
Control
No previous psychiatric history
161562
272325
110764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB599687_1007875248
N/A
N/A
Control
No previous psychiatric history
266999
307266
40268
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB667665_1007852536
N/A
N/A
Control
No previous psychiatric history
150125
272325
122201
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB703785_1007873472
N/A
N/A
Control
No previous psychiatric history
202118
272325
70208
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB763762_1007874874
N/A
N/A
Control
No previous psychiatric history
161562
272325
110764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB792739_1007854317
N/A
N/A
Control
No previous psychiatric history
227980
503735
275756
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB874843_1007854362
N/A
N/A
Control
No previous psychiatric history
202118
351793
149676
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB885552_1007853677
N/A
N/A
Control
No previous psychiatric history
185632
466816
281185
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB981601_1007842471
N/A
N/A
Control
No previous psychiatric history
174447
272325
97879
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB994790_1007874024
N/A
N/A
Control
No previous psychiatric history
108998
449956
340959
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB994790_1007874024
N/A
N/A
Control
No previous psychiatric history
731332
784064
52733
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB996895_1007855015
N/A
N/A
Control
No previous psychiatric history
406117
953599
547483
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900115_900115
N/A
N/A
Control
No previous psychiatric history
1056101
1097089
40989
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900148_900148
N/A
N/A
Control
No previous psychiatric history
132722
332639
199918
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900346_900346
N/A
N/A
Control
No previous psychiatric history
349518
398673
49156
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
N/A
N/A
Control
No previous psychiatric history
500810
569992
69183
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900878_900878
N/A
N/A
Control
No previous psychiatric history
1550403
1582525
32123
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900990_900990
N/A
N/A
Control
No previous psychiatric history
156659
272325
115667
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901087_901087
N/A
N/A
Control
No previous psychiatric history
564373
607738
43366
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901242_901242
N/A
N/A
Control
No previous psychiatric history
185632
257985
72354
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902524_902524
N/A
N/A
Control
No previous psychiatric history
268740
307266
38527
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902606_902606
N/A
N/A
Control
No previous psychiatric history
156659
257985
101327
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902710_902710
N/A
N/A
Control
No previous psychiatric history
247174
380856
133683
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902959_900544
N/A
N/A
Control
No previous psychiatric history
1383446
1479636
96191
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
N/A
N/A
Control
No previous psychiatric history
286102
355793
69692
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls1-control11
N/A
N/A
Control
N/A
N/A
534331
813740
279410
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_controls2-control26
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
girirajan_13a_ASD_discovery_controls2-control27
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1910
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
598223
635677
37455
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split2119
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
564373
607738
43366
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control12106.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12106. SRS score of 56.
214508
340321
125814
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13366.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13366. SRS score of 56.
214508
312166
97659
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11630.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
336581
449927
113347
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11909.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
676941
742407
65467
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12106.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
271626
340321
68696
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12704.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
214508
399259
184752
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13484.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
271626
304704
33079
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14208.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
214508
340321
125814
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11049.s1
NA
F
Control
NA
NA
204286
337430
133145
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11138.s1
NA
M
Control
NA
NA
204286
317098
112813
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11432.s1
NA
F
Control
NA
NA
204286
272759
68474
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11432.s2
NA
M
Control
NA
NA
204286
272759
68474
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11521.s1
NA
F
Control
NA
NA
204286
237197
32912
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12106.s1
NA
F
Control
NA
NA
204286
361314
157029
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12257.s1
NA
M
Control
NA
NA
204286
216076
11791
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-12257.s2
NA
M
Control
NA
NA
201795
216076
14282
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27504
Control
741850
776106
34257
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27504
Control
1688944
1737590
48647
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C36643A
N/A
M
Control
NIMH Control (NIMH ID 97046)
286507
399261
112755
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C40631
N/A
F
Control
NIMH Control (NIMH ID 80004)
286507
336720
50214
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11049.s1
9.8
F
Control (matched sibling)
NA
NA
202118
336186
134069
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
108998
191843
82846
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
1411571
1568941
157371
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11400.s1
10.8
F
Control (matched sibling)
NA
NA
583025
594579
11555
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
185632
272325
86694
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11441.s1
4.3
M
Control (matched sibling)
NA
NA
102645
206255
103611
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11521.s1
15.1
F
Control (matched sibling)
NA
NA
185632
229826
44195
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
1499641
1513917
14277
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
341063
544956
203894
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
95343
191843
96501
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11792.s1
8.6
M
Control (matched sibling)
NA
NA
95343
191843
96501
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
610460
706080
95621
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
112542
191843
79302
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11869.s1
5.5
F
Control (matched sibling)
NA
NA
811618
828348
16731
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
526772
743353
216582
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
579035
596826
17792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
174447
359712
185266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12257.s1
4.6
M
Control (matched sibling)
NA
NA
132722
216124
83403
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12382.s1
12.4
M
Control (matched sibling)
NA
NA
1761406
1777728
16323
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12382.s1
12.4
M
Control (matched sibling)
NA
NA
1565742
1582525
16784
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12440.s1
5.1
F
Control (matched sibling)
NA
NA
1499641
1513917
14277
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
1486005
1492266
6262
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
583418
596826
13409
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
610460
707077
96618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
185632
398673
213042
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12739.s1
4.1
M
Control (matched sibling)
NA
NA
583025
598223
15199
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
320149
322233
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13093.s1
16.2
F
Control (matched sibling)
NA
NA
1499641
1513917
14277
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13093.s1
16.2
F
Control (matched sibling)
NA
NA
320149
327782
7634
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
95343
191843
96501
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-case81
Unknown
CBWD1,DOCK8,DOCK8-AS1
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case1
MLPA
Paternal
Multiplex
DOCK8
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case2
Unknown
EIF1P1,RNU6-1327P,KANK1
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case2
MLPA
Unknown
DOCK8,DOCK8-AS1
capkova_21_ASD/ADHD/DD/ID_discovery_cases-case3
Unknown
FOXD4,CBWD1,DOCK8,DOCK8-AS1,FAM138C,WASHC1,DDX11L5,MIR1302-9,LINC01388,PGM5P3-AS1,MIR1302-9HG
chaves_19_ASD/DD/ID_discovery_cases-case89
Unknown
RPL12P25,DOCK8,KANK1
chehbani_22_ASD_discovery_cases-case12
Unknown
Simplex
DOCK8,DOCK8-AS1
chehbani_22_ASD_discovery_cases-case17
Unknown
Simplex
DOCK8,DOCK8-AS1
chehbani_22_ASD_discovery_cases-case19
Unknown
Simplex
DOCK8
costa_21_ASD_discovery_cases-caseP47
Unknown
CBWD1,DOCK8,DOCK8-AS1
cucinotta_23_ASD_discovery_cases-case144
Paternal
DOCK8,DOCK8-AS1
cucinotta_23_ASD_discovery_cases-case248
De novo
DOCK8
cucinotta_23_ASD_discovery_cases-case323
Maternal
DOCK8,DOCK8-AS1
egger_14_ASD_discovery_cases-caseA27
Unknown
Multiplex for NDD (brother with ADHD)
Unknown
DOCK8
engchuan_15_ASD_discovery_cases-case13081_953
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_cases-case13185_2023
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_cases-case14163_2670
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_cases-case14334_4480
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_cases-case17023_1
Unknown
RNA5SP279
engchuan_15_ASD_discovery_cases-case1957_303
Unknown
DOCK8
engchuan_15_ASD_discovery_cases-case20024_1116001
Unknown
KANK1
engchuan_15_ASD_discovery_cases-case2302_1
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_cases-case3152_3
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_cases-case3315_3
Unknown
LINC01388,FOXD4,RPL12P25,RNU6-1327P,EIF1P1,C9orf66,CBWD1,DOCK8,KANK1
engchuan_15_ASD_discovery_cases-case3423_3
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_cases-case3570_4
Unknown
LINC01388,FOXD4,PGM5P3-AS1,C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_cases-case4448_100
Unknown
DOCK8
engchuan_15_ASD_discovery_cases-case5032_4
De novo
LINC01388,FOXD4,C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_cases-case8668_201
Unknown
DOCK8
feliciano_19_ASD_discovery_cases-caseSP0001510
Paternal
FOXD4,DOCK8-AS1,CBWD1,DOCK8
null
feliciano_19_ASD_discovery_cases-caseSP0019310
Maternal
KANK1
null
gai_11_ASD_discovery_cases-AU1094301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1094302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1312302
Inherited
KANK1
gai_11_ASD_discovery_cases-AU1453303
Inherited
DOCK8
gai_11_ASD_discovery_cases-AU1483302
Inherited
DOCK8
gai_11_ASD_discovery_cases-AU1483303
Inherited
DOCK8
gai_11_ASD_discovery_cases-AU1496302
Inherited
FOXD4, CBWD1, C9orf66, DOCK8, KANK1
gai_11_ASD_discovery_cases-AU1525303
Inherited
DOCK8
gai_11_ASD_replication_cases-AU001505
Inherited
DOCK8, KANK1
gai_11_ASD_replication_cases-AU015203
Inherited
0 genes
gai_11_ASD_replication_cases-AU0941301
Inherited
DOCK8, KANK1
gai_11_ASD_replication_cases-AU0941302
Inherited
DOCK8, KANK1
gazzellone_14_ASD_discovery_cases-case577-3
Unknown
Unknown
Unknown
RPL12P25,KANK1
girirajan_13a_ASD_discovery_cases-11630.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RPL12P25,DOCK8,KANK1
girirajan_13a_ASD_discovery_cases-11909.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
RNU6-1327P,EIF1P1,KANK1
girirajan_13a_ASD_discovery_cases-12316.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
EIF1P1,RNU6-1073P,DMRT2,DMRT3,KANK1,DMRT1,LINC01230
girirajan_13a_ASD_discovery_cases-12590.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DOCK8
girirajan_13a_ASD_discovery_cases-13879.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RPL12P25,RNU6-1327P,DOCK8,KANK1
girirajan_13a_ASD_discovery_cases-14349.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,C9orf66,DMRT3,DOCK8,KANK1,DMRT1,LINC01230
girirajan_13a_ASD_discovery_cases-AU001505
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
RPL12P25,RNU6-1327P,DOCK8,KANK1
girirajan_13a_ASD_discovery_cases-AU1483302
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
RPL12P25,DOCK8,KANK1
girirajan_13a_ASD_discovery_cases-AU1496302
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
RPL12P25,C9orf66,CBWD1,DOCK8,KANK1
girirajan_13a_DD_discovery_cases-DDcase130
Unknown
DOCK8
girirajan_13a_DD_discovery_cases-DDcase131
Unknown
DOCK8
girirajan_13a_DD_discovery_cases-DDcase132
Unknown
DOCK8
girirajan_13a_DD_discovery_cases-DDcase133
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,DMRT3,DOCK8,KANK1,DMRT1,LINC01230
girirajan_13b_ASD_discovery_cases-30708110281
Unknown
Unknown
Unknown
LINC01388,FOXD4,WASHC1,PGM5P3-AS1,C9orf66,CBWD1,DOCK8
guo_18_ASD/DD/ID_discovery_cases-caseBK-306-04
aCGH, Sanger sequencing
Paternal
Multiplex
Not segregated
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000085
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000093
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000164
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,C9orf66,DMRT3,DOCK8,KANK1,DMRT1,LINC01230
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000381
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000477
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,C9orf66,DMRT3,DOCK8,KANK1,DMRT1,LINC01230
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000607
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000900
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,DMRT3,DMRT1,LINC01230,SMARCA2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001247
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001252
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001976
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002125
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002381
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC01388,FOXD4,WASHC1,PGM5P3-AS1,C9orf66,CBWD1,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002396
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DOCK8,KANK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003824
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003833
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003873
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-1327P,EIF1P1,KANK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003929
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004000
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,DMRT3,DOCK8,KANK1,DMRT1,LINC01230
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004185
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,KANK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004279
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
C9orf66,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004927
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C9orf66,CBWD1,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005128
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005180
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C9orf66,CBWD1,DOCK8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005427
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,C9orf66,DOCK8,KANK1
kanduri_15_ASD_discovery_cases-case3070
Paternal
Unknown
Unknown
DOCK8
krgovic_18_ASD/DD/ID/MDD_discovery_cases-case1
Unknown (not maternal)
Unknown
C9orf66,DOCK8
krgovic_18_ASD/DD/ID/MDD_discovery_cases-case2
Possibly maternal
Maternal
Multi-generational
Not segregated
C9orf66,DOCK8
krgovic_18_ASD/DD/ID/MDD_discovery_cases-case3
De novo
Simplex
Segregated
C9orf66,DOCK8
krumm_13_ASD_discovery_cases-case11316.p1
Maternal
Simplex
Segregated
DOCK8
krumm_13_ASD_discovery_cases-case11353.p1
Maternal
Simplex
Segregated
DOCK8
krumm_13_ASD_discovery_cases-case12106.p1
Paternal
Simplex
Not segregated
C9orf66,CBWD1,DOCK8
krumm_13_ASD_discovery_cases-case12655.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1
krumm_15_ASD_discovery_cases-case11316.p1
Illumina 1M
Maternal
Simplex
Segregated
DOCK8
krumm_15_ASD_discovery_cases-case11630.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
DOCK8
krumm_15_ASD_discovery_cases-case11909.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
KANK1
krumm_15_ASD_discovery_cases-case12316.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RNU6-1073P,DMRT2,DMRT3,KANK1,DMRT1,LINC01230
krumm_15_ASD_discovery_cases-case12655.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1
krumm_15_ASD_discovery_cases-case12742.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DOCK8
krumm_15_ASD_discovery_cases-case12854.p1
1M-Duov3
Paternal
Simplex
Segregated
C9orf66,DOCK8
krumm_15_ASD_discovery_cases-case13085.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
C9orf66,DOCK8
krumm_15_ASD_discovery_cases-case13300.p1
1M-Duov3
Maternal
Simplex
Segregated
DOCK8
krumm_15_ASD_discovery_cases-case14102.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
DMRT1
krumm_15_ASD_discovery_cases-case14387.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
DOCK8
kushima_18_SCZ_discovery_cases-caseSCZ1745
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
DDX11L5,MIR1302-9,FAM138C,LINC01388,FOXD4,WASHC1,PGM5P3-AS1,C9orf66,CBWD1,DOCK8
kushima_22_SCZ_discovery_cases-caseSCZ1745
qRT-PCR
Unknown
FOXD4,CBWD1,DOCK8,DOCK8-AS1,FAM138C,DDX11L5,WASHC1,MIR1302-9,LINC01388,PGM5P3-AS1,MIR1302-9HG
levy_11_ASD_discovery_cases-12106.p1
Paternal
Simplex
Not segregated
C9orf66,DOCK8
levy_11_ASD_discovery_cases-12316.p1
Paternal
Simplex
Segregated
EIF1P1,RNU6-1073P,DMRT2,DMRT3,KANK1,DMRT1,LINC01230
lintas_17_ASD_discovery_cases-case9.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
C9orf66,DOCK8
li_18_ASD_discovery_cases-case5901
Unknown
Simplex
Unknown
EIF1P1,KANK1,DMRT1
morrow_08_ASD_discovery_cases-case8601
Paternal
NA
NA
FOXD4, C9orf66, DOCK8, CBWD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253202
Unknown
Unknown
Unknown
DDX11L5,MIR1302-9,FAM138C,LINC01388,FOXD4,RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,WASHC1,PGM5P3-AS1,C9orf66,DMRT3,CBWD1,DOCK8,KANK1,DMRT1,LINC01230
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC18306
FISH
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,C9orf66,DMRT3,DOCK8,KANK1,DMRT1,LINC01230
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36818
FISH
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,C9orf66,DOCK8,KANK1
oikonomakis_16_ASD_discovery_cases-case350
De novo
RPL12P25,RNU6-1327P,DOCK8,KANK1
panigrahi_24_ASD/DD/ID_discovery_cases-case5
Unknown
DOCK8,RPL12P25,KANK1
pinto_10_ASD_discovery_cases-case1957_303
Illumina550-Maternal
maternal
NA
NA
DOCK8
pinto_10_ASD_discovery_cases-case2234_1
qPCR, Affy 6.0
maternal
NA
NA
DOCK8 exonic, C9orf66
pinto_10_ASD_discovery_cases-case2238_1
qPCR, Affy 6.0
paternal
NA
NA
KANK1 exonic
pinto_10_ASD_discovery_cases-case5032_4
qPCR-Denovo, Agilent1M
De novo
Multiplex
Not segregated
LINC01388,FOXD4,C9orf66,CBWD1,DOCK8
pinto_10_ASD_discovery_cases-case5275_3
qPCR
paternal
Multiplex
Unknown
DOCK8 exonic, KANK1 exonic
poultney_13_ASD_discovery_cases-case03HI2532A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DOCK8
poultney_13_ASD_discovery_cases-case05HI4654A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DOCK8
rosenfeld_10_ASD_discovery_cases-case20927
FISH
Maternal
Unknown
Unknown
KANK1
rosenfeld_10_ASD_discovery_cases-case21771
FISH
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11086.p1
Paternal
Simplex (quad-proband matched)
Segregated
KANK1
sanders_11_ASD_discovery_cases-11089.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11267.p1
Unknown
Simplex (quad-proband matched)
Segregated
DOCK8
sanders_11_ASD_discovery_cases-11316.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-11323.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C9orf66,CBWD1,DOCK8
sanders_11_ASD_discovery_cases-11328.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11353.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-11363.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11400.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KANK1
sanders_11_ASD_discovery_cases-11540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
WASHC1
sanders_11_ASD_discovery_cases-11584.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11630.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL12P25,DOCK8,KANK1
sanders_11_ASD_discovery_cases-11644.p1
Both parents
Simplex (quad-proband matched)
Segregated
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_cases-11664.p1
Unknown
Simplex (trio)
NA
DOCK8
sanders_11_ASD_discovery_cases-11696.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-11711.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_cases-11869.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11869.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-11894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11909.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-1327P,EIF1P1,KANK1
sanders_11_ASD_discovery_cases-11947.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-11978.p1
Unknown
Simplex (trio)
NA
DOCK8
sanders_11_ASD_discovery_cases-12010.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
DOCK8
sanders_11_ASD_discovery_cases-12063.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KANK1
sanders_11_ASD_discovery_cases-12073.p1
Unknown
Simplex (quad-proband matched)
Segregated
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_cases-12106.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C9orf66,CBWD1,DOCK8
sanders_11_ASD_discovery_cases-12255.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-12287.p1
Maternal
Simplex (trio)
NA
WASHC1
sanders_11_ASD_discovery_cases-12315.p1
Maternal
Simplex (trio)
NA
KANK1
sanders_11_ASD_discovery_cases-12316.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EIF1P1,RNU6-1073P,DMRT2,DMRT3,KANK1,DMRT1,LINC01230
sanders_11_ASD_discovery_cases-12457.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12603.p1
Both parents
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-12655.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1
sanders_11_ASD_discovery_cases-12655.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DMRT1
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
DOCK8
sanders_11_ASD_discovery_cases-12979.p1
Maternal
Simplex (trio)
NA
C9orf66,DOCK8
sanders_11_ASD_discovery_cases-13070.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-13093.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13171.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-13183.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DOCK8
sanders_11_ASD_discovery_cases-13367.p1
Paternal
Simplex (trio)
NA
DOCK8
sandoval_talamantes_23_ASD_discovery_cases-caseAUT194
Unknown
DOCK8
sandoval_talamantes_23_ASD_discovery_cases-caseAUT46
Unknown
DOCK8
streata_22_ASD/DD/ID_discovery_cases-case251
Unknown
DOCK8,DOCK8-AS1
szatmari_07_ASD_discovery_cases-NAAR050-H5-HI2533
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPL12P25,RNU6-1327P,DOCK8,KANK1
szatmari_07_ASD_discovery_cases-NAAR064-F8-HI2081
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,DMRT3,DOCK8,KANK1,DMRT1,LINC01230
szatmari_07_ASD_discovery_cases-NAAR069-C1-HI2941
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPL12P25,RNU6-1327P,DOCK8,KANK1
tabet_12_ASD_discovery_cases-patient1
Maternal
Multiplex
Unknown
DOCK8
vanzo_13_ASD/ID_discovery_cases-case1
FISH
Paternal
Simplex
Not segregated (older unaffected brother with 9p24.3/KANK1 deletion)
RNU6-1327P,EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case1
Unknown
RPL12P25,RNU6-1327P,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case10
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case11
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case12
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case13
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case14
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case15
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case16
Unknown
KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case17
Maternal
Maternal
Multi-generational
Not segregated
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case18
Unknown
RPL12P25,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case19
Unknown
RPL12P25,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case2
Unknown
RPL12P25,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case20
Unknown
RPL12P25,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case21
Unknown
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case22
Unknown
RPL12P25,RNU6-1327P,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case23
Unknown
RPL12P25,RNU6-1327P,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case24
Unknown
RPL12P25,DOCK8,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case25
Unknown
Multiplex
Possibly segregated
RPL12P25,RNU6-1327P,EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case26
Unknown
Multiplex
Possibly segregated
RPL12P25,RNU6-1327P,EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case27
Unknown
RNU6-1327P,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case28
Maternal
RNU6-1327P,EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case3
Unknown
RNU6-1327P,EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case4
Unknown
RNU6-1327P,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case5
Paternal
RNU6-1327P,EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case6
Paternal
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case7
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case8
Unknown
EIF1P1,KANK1
vanzo_18_ASD/DD/ID_discovery_cases-case9
Unknown
EIF1P1,KANK1
wang_18_TS_replication_cases-case25089.p1
CNV validation not attempted
De novo
DOCK8
yin_16_ASD_discovery_cases-case340
Unknown
Unknown
Unknown
LINC01388,FOXD4,WASHC1,PGM5P3-AS1,C9orf66,CBWD1,DOCK8
yin_16_ASD_discovery_cases-case341
Unknown
Unknown
Unknown
LINC01388,FOXD4,WASHC1,PGM5P3-AS1,C9orf66,CBWD1,DOCK8
yin_16_ASD_discovery_cases-case342
Unknown
Unknown
Unknown
LINC01388,FOXD4,WASHC1,PGM5P3-AS1,C9orf66,CBWD1,DOCK8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20080
Unknown
DOCK8
engchuan_15_ASD_discovery_controls-control110036019842_
Unknown
RPL12P25,RNU6-1327P,EIF1P1,C9orf66,DOCK8,KANK1
engchuan_15_ASD_discovery_controls-controlB216574_1007873989
Unknown
RPL12P25,DOCK8,KANK1
engchuan_15_ASD_discovery_controls-controlB254070_1007852661
Unknown
RPL12P25,DOCK8,KANK1
engchuan_15_ASD_discovery_controls-controlB462693_1007873290
Unknown
RNU6-1327P,EIF1P1,KANK1
engchuan_15_ASD_discovery_controls-controlB526636_1007854065
Unknown
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1
engchuan_15_ASD_discovery_controls-controlB552332_1007854075
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlB599687_1007875248
Unknown
DOCK8
engchuan_15_ASD_discovery_controls-controlB667665_1007852536
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlB703785_1007873472
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_controls-controlB763762_1007874874
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlB792739_1007854317
Unknown
RPL12P25,DOCK8,KANK1
engchuan_15_ASD_discovery_controls-controlB874843_1007854362
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_controls-controlB885552_1007853677
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_controls-controlB981601_1007842471
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlB994790_1007874024
Unknown
LINC01388,FOXD4,C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlB994790_1007874024
Unknown
KANK1
engchuan_15_ASD_discovery_controls-controlB996895_1007855015
Unknown
RPL12P25,RNU6-1327P,EIF1P1,DOCK8,KANK1,DMRT1
engchuan_15_ASD_discovery_controls-controlHABC_900115_900115
Unknown
DMRT2
engchuan_15_ASD_discovery_controls-controlHABC_900148_900148
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlHABC_900346_900346
Unknown
DOCK8
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
Unknown
RNU6-1327P,KANK1
engchuan_15_ASD_discovery_controls-controlHABC_900878_900878
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900990_900990
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlHABC_901087_901087
Unknown
KANK1
engchuan_15_ASD_discovery_controls-controlHABC_901242_901242
Unknown
C9orf66,DOCK8
engchuan_15_ASD_discovery_controls-controlHABC_902524_902524
Unknown
DOCK8
engchuan_15_ASD_discovery_controls-controlHABC_902606_902606
Unknown
C9orf66,CBWD1,DOCK8
engchuan_15_ASD_discovery_controls-controlHABC_902710_902710
Unknown
DOCK8
engchuan_15_ASD_discovery_controls-controlHABC_902959_900544
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
Unknown
DOCK8
girirajan_13a_ASD_discovery_controls1-control11
Unknown
RNU6-1327P,EIF1P1,KANK1
girirajan_13a_ASD_discovery_controls2-control26
Unknown
KANK1
girirajan_13a_ASD_discovery_controls2-control27
Unknown
KANK1
kanduri_15_ASD_discovery_controls-control_split1910
Unknown
KANK1 (intronic)
kanduri_15_ASD_discovery_controls-control_split2119
Unknown
KANK1 (intronic)
krumm_13_ASD_discovery_controls-control12106.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
C9orf66,DOCK8
krumm_13_ASD_discovery_controls-control13366.s1
Paternal
Simplex
C9orf66,DOCK8
krumm_15_ASD_discovery_controls-control11630.s1
Illumina 1MDuo
Maternal
DOCK8
krumm_15_ASD_discovery_controls-control11909.s1
Illumina 1MDuo
Paternal
KANK1
krumm_15_ASD_discovery_controls-control12106.s1
Illumina 1MDuo
Paternal
DOCK8
krumm_15_ASD_discovery_controls-control12704.s1
Illumina 1MDuo
Maternal
C9orf66,DOCK8
krumm_15_ASD_discovery_controls-control13484.s1
Omni2.5-4v1
Maternal
DOCK8
krumm_15_ASD_discovery_controls-control14208.s1
Omni2.5-4v1
Maternal
C9orf66,DOCK8
levy_11_ASD_discovery_controls-11049.s1
Maternal
Simplex
NA
C9orf66,DOCK8
levy_11_ASD_discovery_controls-11138.s1
Paternal
Simplex
NA
C9orf66,DOCK8
levy_11_ASD_discovery_controls-11432.s1
Maternal
Simplex
NA
C9orf66,DOCK8
levy_11_ASD_discovery_controls-11432.s2
Maternal
Simplex
NA
C9orf66,DOCK8
levy_11_ASD_discovery_controls-11521.s1
Maternal
Simplex
NA
C9orf66,DOCK8
levy_11_ASD_discovery_controls-12106.s1
Paternal
Simplex
NA
C9orf66,DOCK8
levy_11_ASD_discovery_controls-12257.s1
Paternal
Simplex
NA
C9orf66,DOCK8
levy_11_ASD_discovery_controls-12257.s2
Paternal
Simplex
NA
C9orf66,DOCK8
nord_11_ASD_discovery_controls-04C27504
0 genes
nord_11_ASD_discovery_controls-04C27504
0 genes
poultney_13_ASD_discovery_controls-control04C36643A
Unknown
DOCK8
poultney_13_ASD_discovery_controls-control05C40631
Unknown
DOCK8
sanders_11_ASD_discovery_controls-11049.s1
Maternal
Simplex (quad)
NA
C9orf66,DOCK8
sanders_11_ASD_discovery_controls-11266.s1
Maternal
Simplex (quad)
NA
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_controls-11304.s1
Paternal
Simplex (quad)
NA
DOCK8
sanders_11_ASD_discovery_controls-11328.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11400.s1
Maternal
Simplex (quad)
NA
KANK1
sanders_11_ASD_discovery_controls-11432.s1
Maternal
Simplex (quad)
NA
C9orf66,DOCK8
sanders_11_ASD_discovery_controls-11441.s1
Maternal
Simplex (quad)
NA
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_controls-11521.s1
Maternal
Simplex (quad)
NA
C9orf66,DOCK8
sanders_11_ASD_discovery_controls-11584.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11630.s1
Maternal
Simplex (quad)
NA
RPL12P25,DOCK8,KANK1
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_controls-11792.s1
Maternal
Simplex (quad)
NA
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
EIF1P1,KANK1
sanders_11_ASD_discovery_controls-11835.s1
Paternal
Simplex (quad)
NA
LINC01388,FOXD4,CBWD1
sanders_11_ASD_discovery_controls-11869.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11894.s1
Paternal
Simplex (quad)
NA
DOCK8
sanders_11_ASD_discovery_controls-11909.s1
Paternal
Simplex (quad)
NA
RNU6-1327P,EIF1P1,KANK1
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
DOCK8
sanders_11_ASD_discovery_controls-12063.s1
Paternal
Simplex (quad)
NA
KANK1
sanders_11_ASD_discovery_controls-12106.s1
Paternal
Simplex (quad)
NA
C9orf66,CBWD1,DOCK8
sanders_11_ASD_discovery_controls-12219.s1
Both parents
Simplex (quad)
NA
DOCK8
sanders_11_ASD_discovery_controls-12257.s1
Paternal
Simplex (quad)
NA
C9orf66,CBWD1,DOCK8
sanders_11_ASD_discovery_controls-12382.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12382.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12440.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12457.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12637.s1
Paternal
Simplex (quad)
NA
KANK1
sanders_11_ASD_discovery_controls-12638.s1
Maternal
Simplex (quad)
NA
EIF1P1,KANK1
sanders_11_ASD_discovery_controls-12704.s1
Maternal
Simplex (quad)
NA
C9orf66,DOCK8
sanders_11_ASD_discovery_controls-12739.s1
Maternal
Simplex (quad)
NA
KANK1
sanders_11_ASD_discovery_controls-13089.s1
Unknown
Simplex (quad)
NA
DOCK8
sanders_11_ASD_discovery_controls-13093.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13093.s1
Unknown
Simplex (quad)
NA
DOCK8
sanders_11_ASD_discovery_controls-13168.s1
Maternal
Simplex (quad)
NA
LINC01388,FOXD4,CBWD1
No Animal Model Data Available