HELP     Sign In

19p13.3CNV Type: Deletion-Duplication


Largest CNV size: 738977 bp

Statistics Box:
Number of Reports: 32



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
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
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 880101
 0
 1
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 486000
 0
 1
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 27146
 5
 0
 5
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 6517
 1
 1
 2
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 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
 4361487
 0
 3
 3
 egle_16_DD/ID_discovery_cases
 Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
 66
 All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
 N/A
 N/A
 500000
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 59086
 1
 6
 7
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 1010461
 0
 1
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 691523
 2
 0
 2
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 571422
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 4927188
 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
 4465919
 9
 11
 20
 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
 26607
 4
 2
 6
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 250501
 13
 31
 44
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 1056685
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 39695
 0
 2
 2
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 657000
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 17000
 1
 0
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 519019
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 738977
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 103997
 1
 4
 5
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 138545
 4
 6
 10
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 576494
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 76597
 1
 4
 5
 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
 261196
 21
 17
 38
 shin_15_ASD/DD/ID_discovery_cases
 Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
 96
 34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
 N/A
 69.8% Male
 1016000
 1
 0
 1
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 59086
 0
 1
 1
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 235879
 1
 0
 1
 wenger_16_22q11DS_discovery_cases
 Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing
 75
 All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD
 N/A
 N/A
 65900
 0
 1
 1
 woodbury-smith_14_ASD_discovery_cases
 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
 19
 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
 N/A
 N/A
 11470
 2
 0
 2
 woodward_19_ASD/DD/ID_discovery_cases
  NA NA
 Individuals with atypical nested 22q11.21 duplications between LCR22B and LCR22D presenting with neurodevelopmental phenotypes
 9
 7 individuals were formally diagnosed with ASD, while 2 others presented with autistic features; developmental delay and/or intellectual disability were observed in 8/9 individuals.
 Range, 5 yrs. 1 mo.-16 yrs.
 77.78% Male
 340000
 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
 122299
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 8462
 1
 0
 1
 egle_16_DD/ID_discovery_controls
 CNVs from the Database of Genomic Variants (DGV)
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 301230
 5
 9
 14
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 1010461
 0
 0
 0
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 girirajan_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
 35182
 0
 4
 4
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 29035
 2
 1
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 300473
 8
 27
 35
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 320089
 0
 4
 4
 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)
 17310
 1
 2
 3
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 138545
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 313928
 12
 18
 30
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 404697
 0
 3
 3
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 59086
 N/A
 N/A
 N/A
 woodbury-smith_14_ASD_discovery_controls
 Platform-matched controls from the KORA and COGEND datasets
 2988
 Control
 N/A
 N/A
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 122299
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 egle_16_DD/ID_discovery_cases
  Lithuania
 aCGH
  Agilent 60K, Agilent 105K, or Agilent 1M
 ADM-2
 Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
 FISH or RT-PCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 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_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
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 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)
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 Array SNP (Affymetrix CytoScan HD)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 shin_15_ASD/DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
 None
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 qPCR
 wenger_16_22q11DS_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 woodbury-smith_14_ASD_discovery_cases
  US and Canada
 Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
 PennCNV, QuantiSNP, iPattern
 None
 woodward_19_ASD/DD/ID_discovery_cases
  N/A
 Solid phase hybridization
  Illumina Infinium HumanCytoSNP-12 BeadChip
 
 Illumina GenomeStudio, KaryoStudio v.4.1
 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
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  egle_16_DD/ID_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  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_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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
  aCGH (Agilent 244K)
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  qPCR, Sanger sequencing
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
  qPCR
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  None
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  woodbury-smith_14_ASD_discovery_controls
  Predominantly European
  Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
  PennCNV, QuantiSNP, iPattern
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  annunziata_21_ASD_discovery_cases-caseIB282
  NA NA
 NA
 F
 ASD
 Case diagnosed with ASD; no additional clinical information available.
 Cognitive profile NA
 2084538
 2964638
  880101
 GRCh38
 Duplication
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case43
 8 yrs. 7 mos.
 M
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Moderate DD/ID
 5155504
 5641836
  486333
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_replication_cases-case1-0720-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 5720974
 5723544
  2571
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-case2-1194-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 798547
 798819
  273
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-case7-0135-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 5709880
 5737025
  27146
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU3839303
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 6003551
 6004893
  1343
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseSSC09802
 N/A
 F
 ASD
 Case from SSC_phase2 cohort
 
 6023610
 6032071
  8462
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11455
 NA
 M
 ASD
 NA
 NA
 3456516
 3463033
  6518
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11461
 NA
 M
 ASD
 NA
 NA
 6427480
 6429834
  2355
 GRCh38
 Duplication
 No
  chaves_19_ASD/DD/ID_discovery_cases-case188
  NA NA
 N/A
 M
 Developmental delay
 Developmental delay, facial dysmorphism and microcephaly
 
 260911
 1434509
  1173599
 GRCh38
 Duplication
 No
  chaves_19_ASD/DD/ID_discovery_cases-case188
  NA NA
 N/A
 M
 Developmental delay
 Developmental delay, facial dysmorphism and microcephaly
 
 1712850
 6074336
  4361487
 GRCh38
 Duplication
 No
  chaves_19_ASD/DD/ID_discovery_cases-case251
  NA NA
 N/A
 M
 Developmental delay and intellectual disability
 Obesity, developmental delay, intellectual disability, facial dysmorphism and ectodermal dysplasia
 Intellectual disability
 260911
 2328486
  2067576
 GRCh38
 Duplication
 No
  egle_16_DD/ID_discovery_cases-case1_1
 26 yrs.
 M
 Intellectual disability
 Freckling of the lips and perioral region, dysmorphic features, kyphoscoliosis, broad feet, pes planus, congenital enlargement of kidneys, axonopahty, spastic paraparesis.
 Intellectual disability
 739176
 1258186
  519011
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14310_4270
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 474588
 520131
  45544
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20069_1328001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 474588
 512568
  37981
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20090_1392002
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1924654
 1972215
  47562
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3276_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 472980
 532066
  59087
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4379_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 573487
 614967
  41481
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4522_100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 483850
 520131
  36282
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6179_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 473113
 520131
  47019
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si43
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 114; Non-verbal IQ, 104.
 246538
 1257000
  1010463
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-14458.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
 2818957
 3510480
  691524
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-14491.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
 2826249
 2887717
  61469
 GRCh38
 Deletion
 Yes
  girirajan_13b_ASD_discovery_cases-9505103679
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 752619
 1324042
  571424
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case18
 7 mos.
 M
 Developmental delay/intellectual disability
 Intrauterine growth retardation, cryptorchidism, facial dysmorphisms, camptodactyly, apnea
 Developmental delay/intellectual disability
 60001
 4953176
  4893176
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001005
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259395
 2555149
  2295755
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001095
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259395
 819679
  560285
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001130
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 4417986
 4721866
  303881
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001820
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2926238
 4051635
  1125398
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001897
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 233565
 4699472
  4465908
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001963
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 4934885
 6501642
  1566758
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002053
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 591812
 1358152
  766341
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002218
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 3080621
 3730716
  650096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002404
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 677680
 899104
  221425
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002479
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1565575
 4108128
  2542554
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002589
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 945098
 1972299
  1027202
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002736
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1727562
 2306496
  578935
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003912
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 266117
 1076399
  810283
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003924
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1156372
 1228333
  71962
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004205
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1143045
 1215323
  72279
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005088
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259395
 1952650
  1693256
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005108
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 3554635
 4690965
  1136331
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005121
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 4008560
 4763159
  754600
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005265
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259195
 1351363
  1092169
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005314
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1191935
 1253715
  61781
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11298.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11298. SRS score of 90.
 Full-scale IQ (FSIQ) score of 141.
 2410257
 2418138
  7882
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case12161.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 12161. SRS score of 55.
 Full-scale IQ (FSIQ) score of 106.
 3807171
 3833778
  26608
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12358.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 12358. SRS score of 90.
 Full-scale IQ (FSIQ) score of 36.
 1783027
 1784946
  1920
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case12837.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12837. SRS score of 86.
 Full-scale IQ (FSIQ) score of 89.
 3816673
 3825407
  8735
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case13296.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13296. SRS score of 87.
 Full-scale IQ (FSIQ) score of 30.
 6681940
 6686902
  4963
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13815.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13815. SRS score of 82.
 Full-scale IQ (FSIQ) score of 51.
 1799946
 1802645
  2700
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11108.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11229.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11298.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 2410257
 2418138
  7882
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11616.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 3937239
 3941177
  3939
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11681.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6375701
 6387559
  11859
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11718.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1032558
 1045231
  12674
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11845.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11878.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11895.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375701
 6387561
  11861
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11982.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375701
 6389637
  13937
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12028.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6375293
 6389637
  14345
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12037.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375701
 6387559
  11859
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12044.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375701
 6387559
  11859
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12113.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12161.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 3807171
 3833778
  26608
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12229.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 731094
 804438
  73345
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12350.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6375293
 6389637
  14345
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12358.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1783027
 1784948
  1922
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12361.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12375.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1271966
 1272487
  522
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12379.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6375701
 6389637
  13937
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12379.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 474620
 504965
  30346
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12515.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12781.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 281387
 336173
  54787
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12792.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5455491
 5705992
  250502
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12837.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 3816673
 3825407
  8735
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12885.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13076.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1805373
 1820395
  15023
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13226.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13334.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 3094651
 3121181
  26531
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13502.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375701
 6387559
  11859
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13544.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 3805948
 3834983
  29036
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13703.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4325211
 4325547
  337
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13744.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 327863
 362428
  34566
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13775.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 2832302
 2834852
  2551
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13854.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1054569
 1059085
  4517
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13927.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 3807171
 3834983
  27813
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13973.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6375293
 6387559
  12267
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14039.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6887608
 6897547
  9940
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14136.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5751646
 5791141
  39496
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14183.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 2410257
 2418138
  7882
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14258.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6380280
 6387559
  7280
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14393.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 2410257
 2418138
  7882
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14491.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 2827616
 2878329
  50714
 GRCh38
 Deletion
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case26
 27 yrs.
 F
 Intellectual disability
 
 Intellectual disability
 669306
 1725992
  1056687
 GRCh38
 Duplication
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case6
 9 yrs.
 M
 Intellectual disability
 
 Intellectual disability
 1377666
 1712860
  335195
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11192.p1
 NA
 M
 ASD
 NA
 NA
 3603221
 3628441
  25221
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12161.p1
 NA
 F
 ASD
 NA
 NA
 3801306
 3841000
  39695
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case67
  NA NA
 5 yrs.
 M
 Motor delay
 Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations, neurological anomalies. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
 Mild intellectual disability
 64447
 721353
  656907
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam1001Proband10753
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 2936537
 2953089
  16553
 GRCh38
 Deletion
 No
  pfundt_16_nonNDD_discovery_cases-case121
 N/A
 N/A
 Non-NDD
 Disease cohort: complex phenotype. Description: STK11 deletion
 
 919873
 1438893
  519021
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case6358_6
 NA
 M
 Autism
 Language delay, cleft palate, retrognathia, short philtrum, hypotelorism, strabismus, sandal gap, normal neurological exam, normal brain MRI
 Low normal IQ
 4548413
 5287389
  738977
 Unknown
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case04HI2784A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1157303; NDAR ID NDAR_INVHV722KZW)
 
 4222670
 4224505
  1836
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2908A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1097302; NDAR ID NDAR_INVFK244CGQ)
 
 4222670
 4224505
  1836
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0220A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU015204; NDAR ID NDAR_INVUV788KP0)
 
 2098785
 2202781
  103997
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 3811272
 3834983
  23712
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
 
 2410256
 2418140
  7885
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case100554L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 2474824
 2482550
  7727
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case100580L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 1848425
 1877157
  28733
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case126573
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 4750961
 4760481
  9521
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case138820
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 2783059
 2794794
  11736
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47560
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 2494971
 2633515
  138545
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47836
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 4021432
 4040167
  18736
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59724-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 2808225
 2842101
  33877
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68785
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 5703322
 5743954
  40633
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case93185
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 4811980
 4849466
  37487
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case93912
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 2361209
 2369238
  8030
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_84
 4 yrs.
 F
 Intellectual disability
 Additional clinical information N/A
 Intellectual disability
 6246127
 6822620
  576494
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 604154
 651852
  47699
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: no. Intellectual disability: no.
 1475392
 1538108
  62717
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 604154
 661080
  56927
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 581070
 657666
  76597
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 2049315
 2080052
  30738
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 1022782
 1036457
  13676
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11011.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
 5900236
 5910084
  9849
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11077.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
 474588
 520131
  45544
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11249.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
 581070
 582253
  1184
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11298.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
 2409867
 2418033
  8167
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11334.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
 2812155
 2889168
  77014
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11382.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
 1781880
 1784945
  3066
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11407.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
 580575
 582693
  2119
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 5431254
 5456919
  25666
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 3198757
 3207648
  8892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 472980
 518686
  45707
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11476.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
 2833433
 2843535
  10103
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11506.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
 581070
 582092
  1023
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11564.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
 6183017
 6198522
  15506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11622.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
 581624
 582092
  469
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11664.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
 581815
 582092
  278
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 6192807
 6198522
  5716
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11718.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
 1026478
 1047162
  20685
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11928.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 1220005
 1235072
  15068
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11948.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
 3196669
 3207648
  10980
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11948.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
 1207205
 1245701
  38497
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 580349
 582092
  1744
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12070.p1
 14.4
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
 581070
 582092
  1023
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12078.p1
 9.2
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
 5529577
 5555770
  26194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12091.p1
 4.4
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
 581070
 582077
  1008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12103.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
 1781880
 1784945
  3066
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12229.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
 723205
 801381
  78177
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12358.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
 1781880
 1784212
  2333
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12369.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
 474588
 520131
  45544
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 490081
 520131
  30051
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12710.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
 572988
 588860
  15873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12764.p1
 15.2
 F
 ASD
 NA
 Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
 478060
 520131
  42072
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12781.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 75
 253492
 340700
  87209
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 401714
 425559
  23846
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12792.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
 5444440
 5705636
  261197
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12972.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
 3122657
 3123919
  1263
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13144.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
 1454970
 1464569
  9600
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 6676431
 6687757
  11327
 GRCh38
 Duplication
 No
  shin_15_ASD/DD/ID_discovery_cases-case28
 9 mos.
 F
 Developmental delay
 Developmental delay, hearing impairment, central hypotonia
 
 2940907
 3957894
  1016988
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-3276-003
 N/A
 M
 ASD
 Family history: paternal aunt has two affected offspring
 N/A
 472980
 532066
  59087
 GRCh38
 Duplication
 No
  wang_18_TS_discovery_cases-case25227.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 1 cohort; no additional clinical information available
 
 1990666
 2226544
  235879
 GRCh38
 Deletion
 Yes
  wenger_16_22q11DS_discovery_cases-case6
 N/A
 N/A
 22q11.2 deletion syndrome
 
 
 N/A
 N/A
  65900
 GRCh37
 Duplication
 No
  woodbury-smith_14_ASD_discovery_cases-case17
 N/A
 M
 ASD
 Family history: broad autism phenotype (BAP)-defined father.
 
 511292
 522761
  11470
 GRCh38
 Deletion
 No
  woodbury-smith_14_ASD_discovery_cases-case18
 N/A
 M
 ASD
 Family history: broad autism phenotype (BAP)-defined father.
 
 3816540
 3824659
  8120
 GRCh38
 Deletion
 No
  woodward_19_ASD/DD/ID_discovery_cases-case1
  NA NA
 12 yrs. 6 mos.
 M
 ASD, DD, and ID
 Birth/neonatal history: born after uncomplicated pregnancy and delivered by non-elective caesarean section due to fetal distress; birth weight of 3,575 grams. Developmental milestones: severe global developmental delay; concerns about limited speech and interactions from about 20 months. Language and comunication evaluation: speech at 11 years of age included 7-8 word sentences with limited comprehension and echolalia. Behavioral/psychiatric evaluation: ASD, motor stereotypies (hand flapping). Dysmorphic features: tall forehead, posteriorly rotated prominent ears, slightly deep-set eyes, upslanting palpebral fissures, widow's peak, sparse eyebrows. Growth parameters: relative macrocephaly (head circumference 98th %ile); height 50th %ile, weight 90th-97th %ile. Family history: patient has similarly affected sibling and asymptomatic father (both of whom have the 22q11.2 duplication); patient also has a brother with bladder exstrophy who had not been tested by microarray; no family history of autistic features or intellectual disability (history of recurrent miscarriage).
 Intellectual disability
 1451256
 1788248
  336993
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case540
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 4073718
 4196017
  122300
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_controls-controlSSC09807
  N/A
  M
  control
  Control from SSC_phase2 cohort
 
  6023610
  6032071
  8462
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036024958_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5524710
  5557938
  33229
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB291465_1007854701
  N/A
  N/A
  Control
  No previous psychiatric history
 
  472980
  520131
  47152
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB326599_1007854356
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2441108
  2560425
  119318
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB497980_1007852882
  N/A
  N/A
  Control
  No previous psychiatric history
 
  473113
  520131
  47019
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB553658_1007850198
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4521613
  4822843
  301231
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB666611_1007875265
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2902421
  2969569
  67149
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB752003_1007876006
  N/A
  N/A
  Control
  No previous psychiatric history
 
  474588
  520131
  45544
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB970964_1007842336
  N/A
  N/A
  Control
  No previous psychiatric history
 
  473113
  513527
  40415
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB980299_0067942608
  N/A
  N/A
  Control
  No previous psychiatric history
 
  478060
  513527
  35468
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900223_900223
  N/A
  N/A
  Control
  No previous psychiatric history
 
  473113
  525739
  52627
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900702_900702
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5725482
  5759220
  33739
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900947_900947
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2936445
  2976116
  39672
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3804703
  3842329
  37627
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902511_902511
  N/A
  N/A
  Control
  No previous psychiatric history
 
  253492
  372775
  119284
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1273
  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
 
  3586471
  3595522
  9052
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1424
  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
 
  4875708
  4910889
  35182
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split189
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  3586471
  3595522
  9052
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split545
  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
 
  3590334
  3592730
  2397
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11298.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11298. SRS score of 37.
 
  2410257
  2418138
  7882
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control12161.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12161. SRS score of 44.
 
  3805948
  3834983
  29036
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control12837.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12837. SRS score of 57.
 
  3816673
  3825407
  8735
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11108.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375293
  6387559
  12267
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11152.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375701
  6387561
  11861
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11164.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  4024035
  4037875
  13841
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11208.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  2832302
  2834852
  2551
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11229.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375701
  6387559
  11859
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11236.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  3805948
  3834983
  29036
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11245.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  3061159
  3121179
  60021
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11298.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  2410257
  2418138
  7882
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11310.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375293
  6392903
  17611
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11718.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1020771
  1045231
  24461
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11869.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  474620
  507844
  33225
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11895.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375701
  6387561
  11861
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11982.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375701
  6387559
  11859
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12076.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  571513
  614018
  42506
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12161.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  3805948
  3833778
  27831
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12229.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  726137
  804702
  78566
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12295.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  617273
  917746
  300474
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12574.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6380280
  6387561
  7282
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12655.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375293
  6389637
  14345
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12792.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  5455491
  5707143
  251653
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12837.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  3816673
  3825407
  8735
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12930.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  841008
  856164
  15157
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13072.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375293
  6387559
  12267
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13226.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375293
  6387559
  12267
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13502.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375701
  6387559
  11859
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13544.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  3807171
  3834983
  27813
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13671.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6380280
  6387561
  7282
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13852.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  474620
  507844
  33225
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13854.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1054569
  1058747
  4179
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13973.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6375293
  6387559
  12267
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14039.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6857053
  6897547
  40495
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1783027
  1784946
  1920
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14076.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  572634
  598346
  25713
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14151.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6422339
  6430161
  7823
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14491.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  2827616
  2915648
  88033
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11192.s1
  NA
  M
  Control
  NA
  NA
  3603221
  3628441
  25221
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11596.s1
  NA
  M
  Control
  NA
  NA
  4317604
  4365579
  47976
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12161.s1
  NA
  F
  Control
  NA
  NA
  3801306
  3841000
  39695
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12295.s1
  NA
  M
  Control
  NA
  NA
  608002
  928090
  320089
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C30093A
  N/A
  F
  Control
  NIMH Control (NIMH ID 85097)
 
  1055905
  1059087
  3183
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C32509B
  N/A
  M
  Control
  NIMH Control (NIMH ID 73661)
 
  746283
  763592
  17310
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C38268A
  N/A
  M
  Control
  NIMH Control (NIMH ID 16691)
 
  1799947
  1802645
  2699
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11011.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  5900236
  5910084
  9849
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11077.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  474588
  520131
  45544
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11208.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  2833433
  2846784
  13352
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11245.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  3123115
  3123637
  523
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11298.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  2409867
  2418033
  8167
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11300.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  88728
  110494
  21767
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11357.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  1256999
  1291819
  34821
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11455.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  464612
  518686
  54075
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11578.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  472980
  520131
  47152
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11659.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  4866439
  4873936
  7498
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11718.s1
  23.6
  F
  Control (matched sibling)
  NA
  NA
  1026478
  1045174
  18697
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11834.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  478060
  520131
  42072
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  1901650
  1910107
  8458
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11869.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  474588
  520131
  45544
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  1220005
  1235072
  15068
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12076.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  572231
  611373
  39143
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12078.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  5529577
  5555770
  26194
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  723205
  801381
  78177
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12240.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  478060
  525739
  47680
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12275.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  5832198
  5842246
  10049
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12295.s1
  20
  M
  Control (matched sibling)
  NA
  NA
  610847
  924775
  313929
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-12369.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  474588
  520131
  45544
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  6192807
  6198522
  5716
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12792.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  5444440
  5705636
  261197
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12930.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  839158
  850574
  11417
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12972.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  3122943
  3123919
  977
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13038.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  1781880
  1784945
  3066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13104.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  1781880
  1785186
  3307
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13144.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  1454970
  1464569
  9600
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  6192807
  6198522
  5716
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family55_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  352341
  757037
  404697
  GRCh38
  Duplication
  No
  stamouli_18_ASD/NDD_discovery_controls-family55_Twin_2
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  375855
  746692
  370838
  GRCh38
  Duplication
  No
  stamouli_18_ASD/NDD_discovery_controls-family71_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
 
  3586473
  3599986
  13514
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 annunziata_21_ASD_discovery_cases-caseIB282
 qPCR, FISH
 
 Unknown
 
 
 AMH,TIMM13,LSM7,SLC39A3,PLEKHJ1,ZNF77,SPPL2B,DOT1L,ZNF556,LMNB2,IZUMO4,ZNF554,MOB3A,JSRP1,ZNF57,DIRAS1,ZNF555,GNG7,PEAK3,TMPRSS9,LINGO3,GADD45B,OAZ1,ELOCP28,MIR1227,MIR4321,LINC01775,MIR7108,MIR6789,MIR7850,RN7SL121P,THOP1,SGTA,RNU6-993P,AP3D1,SF3A2
 
 battaglia_13_DD/ID/ASD_discovery_cases-case43
 FISH or qPCR
 Maternal
 Maternal
 Possible multi-generational
 Segregated
 RPL32P34,SNRPEP4,ZNRF4,TINCR,SAFB2,SAFB,PTPRS
 
 brandler_18_ASD_replication_cases-case1-0720-003
 No validation step reported
 
 Paternal
 
 
 CATSPERD
 
 brandler_18_ASD_replication_cases-case2-1194-003
 No validation step reported
 
 Paternal
 
 
 PTBP1
 
 brandler_18_ASD_replication_cases-case7-0135-003
 No validation step reported
 
 Paternal
 
 
 LONP1,CATSPERD
 
 brandler_18_ASD_replication_cases-caseAU3839303
 No validation step reported
 
 Paternal
 
 
 RFX2
 
 brandler_18_ASD_replication_cases-caseSSC09802
 No validation step reported
 
 Paternal
 
 
 RFX2
 
 celestino-soper_11_ASD_discovery_cases-11455
 
 
 Unknown
 Simplex
 NA
 NFIC
 
 celestino-soper_11_ASD_discovery_cases-11461
 
 
 Unknown
 Simplex
 NA
 SLC25A41
 
 chaves_19_ASD/DD/ID_discovery_cases-case188
 
 
 Unknown
 
 
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,SBNO2,CBARP,CIRBP,FAM174C,EFNA2,PWWP3A,NDUFS7,DAZAP1,RNF126,KISS1R,STK11,ABCA7
 
 chaves_19_ASD/DD/ID_discovery_cases-case188
 
 
 Unknown
 
 
 MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,TLE5,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3,MIR4747,RPL32P34,SNRPEP4,MICOS13,DUS3L,NRTN,FUT5,VMAC,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,MIR7-3HG,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,IZUMO4,GNA15,ANKRD24,PTPRS
 
 chaves_19_ASD/DD/ID_discovery_cases-case251
 
 
 Unknown
 
 
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,REEP6,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,SBNO2,CBARP,CIRBP,FAM174C,EFNA2,PWWP3A,NDUFS7,DAZAP1,APC2,C19orf25,ADAMTSL5,PLK5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,ABCA7,IZUMO4
 
 egle_16_DD/ID_discovery_cases-case1_1
 FISH or RT-PCR
 
 De novo
 
 
 LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,KISS1R,STK11,ABCA7
 
 engchuan_15_ASD_discovery_cases-case14310_4270
 
 
 Unknown
 
 
 ODF3L2,MADCAM1,TPGS1
 
 engchuan_15_ASD_discovery_cases-case20069_1328001
 
 
 Unknown
 
 
 ODF3L2,MADCAM1,TPGS1
 
 engchuan_15_ASD_discovery_cases-case20090_1392002
 
 
 Unknown
 
 
 CSNK1G2-AS1,SCAMP4,CSNK1G2
 
 engchuan_15_ASD_discovery_cases-case3276_3
 
 
 Unknown
 
 
 ODF3L2,MADCAM1,TPGS1,CDC34
 
 engchuan_15_ASD_discovery_cases-case4379_1
 
 
 Unknown
 
 
 BSG,HCN2
 
 engchuan_15_ASD_discovery_cases-case4522_100
 
 
 Unknown
 
 
 MADCAM1,TPGS1
 
 engchuan_15_ASD_discovery_cases-case6179_4
 
 
 Unknown
 
 
 ODF3L2,MADCAM1,TPGS1
 
 girirajan_11_ASD_discovery_cases-Si43
 
 
 Unknown
 Simplex
 
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,RNF126,KISS1R,STK11,ABCA7
 
 girirajan_13a_ASD_discovery_cases-14458.p1
 
 
 Unknown
 Simplex
 Unknown
 ZNF556,ZNF77,AES,SMIM24,DOHH,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,TLE2,CELF5,NFIC,GNA15
 
 girirajan_13a_ASD_discovery_cases-14491.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ZNF556,ZNF554,ZNF555
 
 girirajan_13b_ASD_discovery_cases-9505103679
 
 
 Unknown
 Unknown
 Unknown
 LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,KISS1R,STK11,ABCA7
 
 iourov_12_ASD/ID/EP_discovery_cases-case18
 
 
 Unknown
 Unknown
 Unknown
 MIR1302-11,FAM138F,OR4G3P,OR4G1P,WBP1LP11,OR4F8P,SEPT14P19,CICP19,RNU6-1076P,PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,WASH5P,OR4F17,LINC01002,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,ABCA7,IZUMO4,GNA15,ANKRD24
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001005
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,ABCA7,IZUMO4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001095
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,RNF126
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001130
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR4746,PLIN5,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,UBXN6,DPP9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001820
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,GNA15
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001897
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,LINC01002,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,ABCA7,IZUMO4,GNA15,ANKRD24
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001963
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,PTPRS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002053
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,RNF126,KISS1R,STK11,ABCA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002218
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,CELF5,NFIC,MFSD12,PIP5K1C,GNA15
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002404
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002479
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,IZUMO4,GNA15
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002589
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,STK11,REXO1,CSNK1G2,ABCA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002736
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,REXO1,CSNK1G2,DOT1L,IZUMO4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003912
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,RNF126,KISS1R,ABCA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003924
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HMGB2P1,SBNO2,CBARP,STK11
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004205
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 HMGB2P1,SBNO2,STK11
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005088
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,RNF126,KISS1R,STK11,REXO1,CSNK1G2,ABCA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005108
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,ANKRD24
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005121
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 EBI3,SHD,EIF1P6,MIR4746,PLIN5,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,ZBTB7A,STAP2,UBXN6,DPP9,ANKRD24
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005265
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,RNF126,KISS1R,STK11,ABCA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005314
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HMGB2P1,ATP5F1D,MIDN,CBARP,STK11
 
 krumm_13_ASD_discovery_cases-case11298.p1
 
 
 Paternal
 Simplex
 Not segregated
 TMPRSS9
 
 krumm_13_ASD_discovery_cases-case12161.p1
 Confirmed by manual inspection
 
 Paternal
 Simplex
 Not segregated
 ZFR2
 
 krumm_13_ASD_discovery_cases-case12358.p1
 
 
 Paternal
 Simplex
 Segregated
 ATP8B3
 
 krumm_13_ASD_discovery_cases-case12837.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZFR2
 
 krumm_13_ASD_discovery_cases-case13296.p1
 
 
 Maternal
 Simplex
 Segregated
 C3
 
 krumm_13_ASD_discovery_cases-case13815.p1
 
 
 Paternal
 Simplex
 Segregated
 ATP8B3
 
 krumm_15_ASD_discovery_cases-case11108.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case11229.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case11298.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TMPRSS9
 
 krumm_15_ASD_discovery_cases-case11616.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 NMRK2
 
 krumm_15_ASD_discovery_cases-case11681.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case11718.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CNN2,ABCA7
 
 krumm_15_ASD_discovery_cases-case11845.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case11878.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case11895.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case11982.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12028.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12037.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12044.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12113.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12161.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZFR2
 
 krumm_15_ASD_discovery_cases-case12229.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 LINC01836,PALM,MISP,PTBP1
 
 krumm_15_ASD_discovery_cases-case12350.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12358.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 ATP8B3
 
 krumm_15_ASD_discovery_cases-case12361.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12375.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 CIRBP
 
 krumm_15_ASD_discovery_cases-case12379.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12379.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ODF3L2,MADCAM1
 
 krumm_15_ASD_discovery_cases-case12515.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case12781.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PLPP2,MIER2
 
 krumm_15_ASD_discovery_cases-case12792.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
 
 krumm_15_ASD_discovery_cases-case12837.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZFR2
 
 krumm_15_ASD_discovery_cases-case12885.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case13076.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MIR1909,ATP8B3,REXO1
 
 krumm_15_ASD_discovery_cases-case13226.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case13334.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 GNA11
 
 krumm_15_ASD_discovery_cases-case13502.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case13544.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZFR2
 
 krumm_15_ASD_discovery_cases-case13703.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 STAP2
 
 krumm_15_ASD_discovery_cases-case13744.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 THEG,MIER2
 
 krumm_15_ASD_discovery_cases-case13775.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ZNF554
 
 krumm_15_ASD_discovery_cases-case13854.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ABCA7
 
 krumm_15_ASD_discovery_cases-case13927.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ZFR2
 
 krumm_15_ASD_discovery_cases-case13973.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PSPN,GTF2F1
 
 krumm_15_ASD_discovery_cases-case14039.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ADGRE1
 
 krumm_15_ASD_discovery_cases-case14136.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 DUS3L,PRR22,CATSPERD
 
 krumm_15_ASD_discovery_cases-case14183.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 TMPRSS9
 
 krumm_15_ASD_discovery_cases-case14258.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GTF2F1
 
 krumm_15_ASD_discovery_cases-case14393.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TMPRSS9
 
 krumm_15_ASD_discovery_cases-case14491.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZNF556,ZNF554,ZNF555
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case26
 
 
 Unknown
 
 
 FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,KISS1R,STK11,ABCA7
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case6
 
 
 Unknown
 
 
 GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3
 
 levy_11_ASD_discovery_cases-11192.p1
 
 
 Maternal
 Simplex
 Not segregated
 CACTIN-AS1,TBXA2R,CACTIN
 
 levy_11_ASD_discovery_cases-12161.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZFR2,MATK
 
 maini_18_ASD/DD/ID_discovery_cases-case67
 
 
 De novo
 Simplex
 Possibly segregated
 MIR1302-11,FAM138F,OR4G3P,OR4G1P,WBP1LP11,OR4F8P,SEPT14P19,CICP19,RNU6-1076P,PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,WASH5P,OR4F17,LINC01002,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,RNF126
 
 nava_13_ASD_discovery_cases-Fam1001Proband10753
 
 
 Paternal
 Simplex
 Unknown
 ZNF77
 
 pfundt_16_nonNDD_discovery_cases-case121
 Array SNP (Affymetrix CytoScan HD)
 
 
 
 
 WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,KISS1R,STK11,ABCA7
 
 pinto_10_ASD_discovery_cases-case6358_6
 qPCR
 
 De novo
 Simplex
 NA
 PTPRS, TNFAIP8L1, ARRDC5, JMJD2B, M6PRBP1, DPP9, C19orf10, UHRF1, FEM1A
 
 poultney_13_ASD_discovery_cases-case04HI2784A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ANKRD24
 
 poultney_13_ASD_discovery_cases-case04HI2908A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ANKRD24
 
 poultney_13_ASD_discovery_cases-case98HI0220A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 AP3D1,DOT1L,IZUMO4
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZFR2
 
 poultney_13_ASD_discovery_cases-case99HI0802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TMPRSS9
 
 prasad_12_ASD_discovery_cases-case100554L
 
 
 Unknown
 Unknown
 Unknown
 GNG7
 
 prasad_12_ASD_discovery_cases-case100580L
 
 
 Unknown
 Unknown
 Unknown
 SCAMP4,ADAT3
 
 prasad_12_ASD_discovery_cases-case126573
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case138820
 
 
 Unknown
 Unknown
 Unknown
 ZNF554,ZNF555
 
 prasad_12_ASD_discovery_cases-case47560
 
 
 Unknown
 Unknown
 Unknown
 GNG7
 
 prasad_12_ASD_discovery_cases-case47836
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case59724-L
 
 
 Unknown
 Unknown
 Unknown
 ZNF556,ZNF555
 
 prasad_12_ASD_discovery_cases-case68785
 
 
 Unknown
 Unknown
 Unknown
 DUS3L,TMEM146,PRR22
 
 prasad_12_ASD_discovery_cases-case93185
 
 
 Unknown
 Unknown
 Unknown
 ARRDC5,PLIN3
 
 prasad_12_ASD_discovery_cases-case93912
 
 
 Unknown
 Unknown
 Unknown
 TMPRSS9
 
 quintela_17_DD/ID_discovery_cases-caseID_84
 
 
 Unknown
 
 Unknown
 CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,KHSRP,C3,VAV1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 FGF22,HCN2,POLRMT,RNF126
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 PCSK4,PLK5,C19orf25,REEP6,ADAMTSL5
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
 qPCR (CNV not detected)
 
 Bi-parental
 Unknown
 Unknown
 FGF22,HCN2,POLRMT,RNF126
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 FGF22,BSG,HCN2,POLRMT,RNF126
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MKNK2,MOB3A
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CNN2
 
 sanders_11_ASD_discovery_cases-11011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 VMAC,NDUFA11
 
 sanders_11_ASD_discovery_cases-11077.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ODF3L2,MADCAM1,TPGS1
 
 sanders_11_ASD_discovery_cases-11249.p1
 
 
 Both parents
 Simplex (trio)
 NA
 BSG
 
 sanders_11_ASD_discovery_cases-11298.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TMPRSS9
 
 sanders_11_ASD_discovery_cases-11334.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF556,THOP1,ZNF554,ZNF555
 
 sanders_11_ASD_discovery_cases-11382.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP8B3
 
 sanders_11_ASD_discovery_cases-11407.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 BSG
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ZNRF4
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 NCLN
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ODF3L2,MADCAM1,TPGS1
 
 sanders_11_ASD_discovery_cases-11476.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF554,ZNF555
 
 sanders_11_ASD_discovery_cases-11506.p1
 
 
 Paternal
 Simplex (trio)
 NA
 BSG
 
 sanders_11_ASD_discovery_cases-11564.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RFX2,ACSBG2
 
 sanders_11_ASD_discovery_cases-11622.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 BSG
 
 sanders_11_ASD_discovery_cases-11664.p1
 
 
 Both parents
 Simplex (trio)
 NA
 BSG
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RFX2,ACSBG2
 
 sanders_11_ASD_discovery_cases-11718.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CNN2,ABCA7
 
 sanders_11_ASD_discovery_cases-11928.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CBARP,STK11
 
 sanders_11_ASD_discovery_cases-11948.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 NCLN
 
 sanders_11_ASD_discovery_cases-11948.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ATP5F1D,CBARP,STK11
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 BSG
 
 sanders_11_ASD_discovery_cases-12070.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 BSG
 
 sanders_11_ASD_discovery_cases-12078.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12091.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BSG
 
 sanders_11_ASD_discovery_cases-12103.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 ATP8B3
 
 sanders_11_ASD_discovery_cases-12229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01836,PALM,MISP,PTBP1
 
 sanders_11_ASD_discovery_cases-12358.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP8B3
 
 sanders_11_ASD_discovery_cases-12369.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ODF3L2,MADCAM1,TPGS1
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MADCAM1,TPGS1
 
 sanders_11_ASD_discovery_cases-12710.p1
 
 
 Unknown
 Simplex (trio)
 NA
 BSG
 
 sanders_11_ASD_discovery_cases-12764.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MADCAM1,TPGS1
 
 sanders_11_ASD_discovery_cases-12781.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PLPP2,MIER2
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C2CD4C,SHC2
 
 sanders_11_ASD_discovery_cases-12792.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
 
 sanders_11_ASD_discovery_cases-12972.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GNA11
 
 sanders_11_ASD_discovery_cases-13144.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 APC2,C19orf25
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C3
 
 shin_15_ASD/DD/ID_discovery_cases-case28
 
 
 Unknown
 
 Unknown
 ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,GNA15
 
 walker_13_ASD_discovery_cases-case8-3276-003
 
 
 Unknown
 Simplex
 Unknown
 ODF3L2,MADCAM1,TPGS1,CDC34
 
 wang_18_TS_discovery_cases-case25227.p1
 qPCR
 
 De novo
 
 
 BTBD2,MKNK2,MOB3A,AP3D1,DOT1L,IZUMO4
 
 wenger_16_22q11DS_discovery_cases-case6
 
 
 Unknown
 
 
 MKNK2
 
 woodbury-smith_14_ASD_discovery_cases-case17
 
 
 Paternal
 Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
 Unknown
 TPGS1
 
 woodbury-smith_14_ASD_discovery_cases-case18
 
 
 Paternal
 Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
 Unknown
 ZFR2
 
 woodward_19_ASD/DD/ID_discovery_cases-case1
 
 
 De novo
 Multiplex
 Not segregated
 PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3
 
 yin_16_ASD_discovery_cases-case540
 
 
 Unknown
 Unknown
 Unknown
 MAP2K2,CREB3L3,SIRT6,ANKRD24
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC09807
  No validation step reported
 
  Paternal
 
 
  RFX2
 
engchuan_15_ASD_discovery_controls-control110036024958_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB291465_1007854701
 
 
  Unknown
 
 
  ODF3L2,MADCAM1,TPGS1
 
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
 
 
  Unknown
 
 
  LINC01775,GADD45B,RNU6-993P,ELOCP28,LMNB2,GNG7
 
engchuan_15_ASD_discovery_controls-controlB497980_1007852882
 
 
  Unknown
 
 
  ODF3L2,MADCAM1,TPGS1
 
engchuan_15_ASD_discovery_controls-controlB553658_1007850198
 
 
  Unknown
 
 
  PLIN5,MIR7-3HG,MIR7-3,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,DPP9
 
engchuan_15_ASD_discovery_controls-controlB666611_1007875265
 
 
  Unknown
 
 
  ZNF77,ZNF57
 
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
 
 
  Unknown
 
 
  ODF3L2,MADCAM1,TPGS1
 
engchuan_15_ASD_discovery_controls-controlB970964_1007842336
 
 
  Unknown
 
 
  ODF3L2,MADCAM1,TPGS1
 
engchuan_15_ASD_discovery_controls-controlB980299_0067942608
 
 
  Unknown
 
 
  MADCAM1,TPGS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900223_900223
 
 
  Unknown
 
 
  ODF3L2,MADCAM1,TPGS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900702_900702
 
 
  Unknown
 
 
  CATSPERD
 
engchuan_15_ASD_discovery_controls-controlHABC_900947_900947
 
 
  Unknown
 
 
  ZNF77
 
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
 
 
  Unknown
 
 
  ZFR2
 
engchuan_15_ASD_discovery_controls-controlHABC_902511_902511
 
 
  Unknown
 
 
  PLPP2,THEG,MIER2
 
kanduri_15_ASD_discovery_controls-control_split1273
 
 
  Unknown
 
 
  GIPC3,TBXA2R
 
kanduri_15_ASD_discovery_controls-control_split1424
 
 
  Unknown
 
 
  ARRDC5,UHRF1
 
kanduri_15_ASD_discovery_controls-control_split189
 
 
  Unknown
 
 
  GIPC3,TBXA2R
 
kanduri_15_ASD_discovery_controls-control_split545
 
 
  Unknown
 
 
  GIPC3 (3'UTR)
 
krumm_13_ASD_discovery_controls-control11298.s1
 
 
  Paternal
  Simplex
 
  TMPRSS9
 
krumm_13_ASD_discovery_controls-control12161.s1
  Confirmed by manual inspection
 
  Paternal
  Simplex
 
  ZFR2
 
krumm_13_ASD_discovery_controls-control12837.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  ZFR2
 
krumm_15_ASD_discovery_controls-control11108.s1
  Illumina 1M
 
  Paternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control11152.s1
  Illumina 1M
 
  Maternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control11164.s1
  Illumina 1M
 
  Paternal
 
 
  PIAS4
 
krumm_15_ASD_discovery_controls-control11208.s1
  Illumina 1M
 
  Maternal
 
 
  ZNF554
 
krumm_15_ASD_discovery_controls-control11229.s1
  Illumina 1M
 
  Paternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control11236.s1
  Illumina 1MDuo
 
  Maternal
 
 
  ZFR2
 
krumm_15_ASD_discovery_controls-control11245.s1
  Illumina 1M
 
  Paternal
 
 
  AES,GNA11
 
krumm_15_ASD_discovery_controls-control11298.s1
  Illumina 1M
 
  Paternal
 
 
  TMPRSS9
 
krumm_15_ASD_discovery_controls-control11310.s1
  Illumina 1M
 
  Paternal
 
 
  PSPN,MIR6885,GTF2F1
 
krumm_15_ASD_discovery_controls-control11718.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RNU6-2,TMEM259,CNN2,ABCA7
 
krumm_15_ASD_discovery_controls-control11869.s1
  Illumina 1MDuo
 
  Maternal
 
 
  ODF3L2,MADCAM1,TPGS1
 
krumm_15_ASD_discovery_controls-control11895.s1
  Illumina 1MDuo
 
  Maternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control11982.s1
  Illumina 1MDuo
 
  Maternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control12076.s1
  Illumina 1MDuo
 
  Maternal
 
 
  BSG,HCN2
 
krumm_15_ASD_discovery_controls-control12161.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZFR2
 
krumm_15_ASD_discovery_controls-control12229.s1
  Illumina 1MDuo
 
  Maternal
 
 
  LINC01836,PALM,MISP,PTBP1
 
krumm_15_ASD_discovery_controls-control12295.s1
  Illumina 1MDuo
 
  De novo
 
 
  FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,RNF126,KISS1R
 
krumm_15_ASD_discovery_controls-control12574.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GTF2F1
 
krumm_15_ASD_discovery_controls-control12655.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control12792.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
 
krumm_15_ASD_discovery_controls-control12837.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZFR2
 
krumm_15_ASD_discovery_controls-control12930.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PRTN3,ELANE
 
krumm_15_ASD_discovery_controls-control13072.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control13226.s1
  Illumina 1MDuo
 
  Maternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control13502.s1
  1M-Duov3
 
  Maternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control13544.s1
  1M-Duov3
 
  Paternal
 
 
  ZFR2
 
krumm_15_ASD_discovery_controls-control13671.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GTF2F1
 
krumm_15_ASD_discovery_controls-control13852.s1
  Omni2.5-4v1
 
  Maternal
 
 
  ODF3L2,MADCAM1,TPGS1
 
krumm_15_ASD_discovery_controls-control13854.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ABCA7
 
krumm_15_ASD_discovery_controls-control13973.s1
  Omni2.5-4v1
 
  Maternal
 
 
  PSPN,GTF2F1
 
krumm_15_ASD_discovery_controls-control14039.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ADGRE1,VAV1
 
krumm_15_ASD_discovery_controls-control14063.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ATP8B3
 
krumm_15_ASD_discovery_controls-control14076.s1
  Omni2.5-4v1
 
  Maternal
 
 
  BSG,HCN2
 
krumm_15_ASD_discovery_controls-control14151.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SLC25A41,KHSRP
 
krumm_15_ASD_discovery_controls-control14491.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ZNF556,ZNF554,ZNF555,ZNF57
 
levy_11_ASD_discovery_controls-11192.s1
 
 
  Maternal
  Simplex
  NA
  CACTIN-AS1,TBXA2R,CACTIN
 
levy_11_ASD_discovery_controls-11596.s1
 
 
  Paternal
  Simplex
  NA
  EIF1P6,FSD1,MPND,SH3GL1,STAP2
 
levy_11_ASD_discovery_controls-12161.s1
 
 
  Paternal
  Simplex
  NA
  ZFR2,MATK
 
levy_11_ASD_discovery_controls-12295.s1
  aCGH (Agilent 244K)
 
  De novo
  Simplex
  NA
  FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,RNF126,KISS1R
 
poultney_13_ASD_discovery_controls-control04C30093A
 
 
  Unknown
 
 
  ABCA7
 
poultney_13_ASD_discovery_controls-control04C32509B
 
 
  Unknown
 
 
  PALM,MISP
 
poultney_13_ASD_discovery_controls-control04C38268A
  qPCR, Sanger sequencing
 
  Unknown
 
 
  ATP8B3
 
sanders_11_ASD_discovery_controls-11011.s1
 
 
  Maternal
  Simplex (quad)
  NA
  VMAC,NDUFA11
 
sanders_11_ASD_discovery_controls-11077.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ODF3L2,MADCAM1,TPGS1
 
sanders_11_ASD_discovery_controls-11208.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF554,ZNF555
 
sanders_11_ASD_discovery_controls-11245.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GNA11
 
sanders_11_ASD_discovery_controls-11298.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TMPRSS9
 
sanders_11_ASD_discovery_controls-11300.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR4G3P,OR4G1P,OR4F17
 
sanders_11_ASD_discovery_controls-11357.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MIDN,CIRBP-AS1,CIRBP,C19orf24,EFNA2
 
sanders_11_ASD_discovery_controls-11455.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ODF3L2,MADCAM1,TPGS1
 
sanders_11_ASD_discovery_controls-11578.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ODF3L2,MADCAM1,TPGS1
 
sanders_11_ASD_discovery_controls-11659.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PLIN3
 
sanders_11_ASD_discovery_controls-11718.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CNN2,ABCA7
 
sanders_11_ASD_discovery_controls-11834.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MADCAM1,TPGS1
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ADAT3,SCAMP4
 
sanders_11_ASD_discovery_controls-11869.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ODF3L2,MADCAM1,TPGS1
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CBARP,STK11
 
sanders_11_ASD_discovery_controls-12076.s1
 
 
  Maternal
  Simplex (quad)
  NA
  BSG,HCN2
 
sanders_11_ASD_discovery_controls-12078.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01836,PALM,MISP,PTBP1
 
sanders_11_ASD_discovery_controls-12240.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MADCAM1,TPGS1
 
sanders_11_ASD_discovery_controls-12275.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FUT6
 
sanders_11_ASD_discovery_controls-12295.s1
  qPCR
 
  De Novo
  Simplex (quad)
  NA
  FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,RNF126,KISS1R
 
sanders_11_ASD_discovery_controls-12369.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ODF3L2,MADCAM1,TPGS1
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RFX2,ACSBG2
 
sanders_11_ASD_discovery_controls-12792.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
 
sanders_11_ASD_discovery_controls-12930.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PRTN3
 
sanders_11_ASD_discovery_controls-12972.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GNA11
 
sanders_11_ASD_discovery_controls-13038.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP8B3
 
sanders_11_ASD_discovery_controls-13104.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP8B3
 
sanders_11_ASD_discovery_controls-13144.s1
 
 
  Maternal
  Simplex (quad)
  NA
  APC2,C19orf25
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RFX2,ACSBG2
 
stamouli_18_ASD/NDD_discovery_controls-family55_Twin_1
 
 
  Unknown
  N/A (both twins typically developing)
 
  THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,RNF126
 
stamouli_18_ASD/NDD_discovery_controls-family55_Twin_2
 
 
  Unknown
  N/A (both twins typically developing)
 
  THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,RNF126
 
stamouli_18_ASD/NDD_discovery_controls-family71_Twin_1
 
 
  Unknown
  Simplex
 
  GIPC3,TBXA2R
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.