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15q11.2CNV Type: Deletion-Duplication


Largest CNV size: 2150678 bp

Statistics Box:
Number of Reports: 98



Summary Information

CNVs that reside solely within the 15q11.2 locus have been identified in autistic individuals in numerous reports. NDN, which is thought to be involved in the regulation of neuronal growth, and CYFIP1, which interacts with FMR1, are among the genes that typically reside witihin CNVs at this locus.

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Deletion-Duplication
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural di...
Deletion
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Deletion
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
De novo rates and selection of large copy number variation.
Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Deletion
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
Deletion
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Deletion
High rate of disease-related copy number variations in childhood onset schizophrenia.
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
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phe...
Duplication
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
Deletion
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
NA
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
NA
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
NA
Deletion-Duplication
NA
Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
NA
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Duplication
Contribution of SHANK3 mutations to autism spectrum disorder.
Duplication
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Clinical genetic testing for patients with autism spectrum disorders.
Deletion-Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion-Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Duplication
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders.
Duplication
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Duplication
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion-Duplication
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
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.
Duplication
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Duplication
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Duplication
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Deletion
NA
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
NA
Duplication
NA
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
NA
Deletion
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Deletion
NA
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion-Duplication
NA
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 abdelmoity_12_DD/ID_discovery_cases
 Consecutive patients who underwent microarray study at Children's Mercy Hospitals and Clinics (Kansas City, MO) from April 2008 to July 2010.
 1654
 Patients evaluated for one of the following: developmental delay or intellectual disability, neurological and/or neuropsychiatric disorders, dysmorphism, microcephaly, or multiple congenital anomalies.
 NA
 NA
 350000
 21
 12
 33
 ahn_13_SCZ_discovery_cases
 Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
 126
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
 N/A
 N/A
 1386000
 2
 0
 2
 alayadhi_16_ASD_discovery_cases
 ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
 22
 All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
 N/A
 100% Male
 56952
 2
 0
 2
 alvarez-mora_16_ASD_discovery_cases
 Unrelated ASD male patients from Spain
 50
 All cases fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R; most cases presented with high-functioning ASD without facial dysmorphic features
 10.85 8.02 yrs.
 Male
 1330000
 0
 2
 2
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases
 Unrelated patients with duplications within the 15q11-q13 region, seen in the genetic department of Robert DEBRE hospital (France) between 2000 and 2012
 30
 Most common features of this cohort: developmental delay (77%), speech delay (93%), learning disabilities (93%), behavioral disturbances (77%), autism/ASD (74%), epilepsy/seizures (40%), and minor facial dysmorphic features (40%).
 Range, 4 mos.-30 yrs. (mean 8.8; median 7)
 66.67% Male
 N/A
 0
 6
 6
 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
 614264
 1
 1
 2
 bacchelli_20_ASD_discovery_cases
  NA NA
 Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
 128
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 N/A
 82.81% Male
 582491
 0
 1
 1
 bartnik_12_EP_discovery_cases
 102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
 102
 Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
 NA
 NA
 220000
 1
 0
 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
 300000
 0
 1
 1
 brandler_16_ASD_discovery_cases
 ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
 71
 Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
 N/A
 N/A
 N/A
 2
 0
 2
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 635100
 1
 0
 1
 bucan_09_ASD_discovery_cases
 Individuals from 912 multiplex families (AGRE cohort)
 3832
 ASD
 
 
 591007
 26
 0
 26
 bucan_09_ASD_replication_cases
 Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
 859
 828 diagnosed with autism, 31 with other ASDs
 Range, 2-21
 81.8% Male
 926360
 2
 0
 2
 cai_08_ASD_discovery_cases
 Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
 279
 270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
 Mean 7.94 yrs
 79.6% Male
 120000
 0
 2
 2
 castronovo_14_ASD/DD/EP_discovery_cases
 Third-born child of healthy, non-consanguineous parents with two healthy older brothers presenting with a complex de novo chromosomal rearrangement at 15q11-q13
 1
 Case diagnosed with autism (formal evaluation using ADOS), severe developmental delay, and epilepsy (successfully treated with Depakine)
 3 yrs. 9 mos.
 Male
 1100000
 0
 1
 1
 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
 2150678
 3
 0
 3
 celestino-soper_12_DD/CHD_discovery_cases
 Subjects from databases of Baylor College of Medicine-Medical Genetics Laboratories (MGL) and Signature Genomic Laboratories (SGL) diagnostic laboratories
 5
 Four patients with developmental delay (DD), one with congenital heart defects (CHD)
 Range, 1 mo.-17 yrs.
 60.0% Male
 2700000
 0
 1
 1
 ceylan_18_DD/ID_discovery_cases
  NA NA
 Patients examined at the department of genetics between May 2016 and April 2017
 124
 Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
 Range, 15 days-17 years
 58.87% Male
 500000
 1
 0
 1
 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
 512351
 2
 0
 2
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 1388844
 1
 1
 2
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 1896864
 7
 5
 12
 depienne_09_ASD_discovery_cases
 Patients from 430 families (95 mulitplex, 335 sporadic) recruited by Paris Autism Research international Subpair (PARIS) at centers in Europe and U.S.
 522
 472 cases diagnosed with autism, 26 with Asperger syndrome, & 24 for PDD-NOS. 358 cases with mental retardation, 261 with limited or no language, 66 with history of epilepsy.
 Mean of 11 7.5 yrs (range 2.5-43)
 75.3% Male
 254000
 3
 2
 5
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 395426
 1
 0
 1
 doornbos_09_15q11.2_discovery_cases
 Patients in two genetic centres (University Medical Centre Groningen & Leiden University Medical Centre, Netherlands)
 1576
 Patients originally referred for mental retardation and/or multiple congenital abnormalities; all patients with 15q11.2 microdeletion were clinically re-evaluated.
 
 
 340000
 9
 0
 9
 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
 312867
 3
 1
 4
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 226406
 4
 2
 6
 fry_16_DD/ID/EP/ASD_discovery_cases
 Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
 80
 All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
 Range, <1 yr.-60 yrs.
 45.0% Male
 889000
 0
 1
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 22861
 1
 0
 1
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 1
 1
 2
 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.
 
 
 385003
 15
 468
 483
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 290000
 166
 0
 166
 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
 414379
 24
 249
 273
 gorker_18_ASD_discovery_cases
  NA NA
 Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
 53
 All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
 Mean age, 9.2 years
 74.0% Male
 246356
 0
 1
 1
 guo_18_ASD/DD/ID_discovery_cases
 Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
 213
 Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
 N/A
 N/A
 469199
 2
 0
 2
 guo_19_DD/ID_discovery_cases
 Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
 54
 Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
 Median age, 15 (8-26) months
 61.1% Male
 500000
 1
 0
 1
 husson_20_ASD_discovery_cases
 A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
 253
 Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
 N/A
 81.4% Male
 497087
 4
 0
 4
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 161476
 0
 1
 1
 jiao_19_EP/DD/ID_discovery_cases
 Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
 220
 Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
 Range, 1 mo.- 14 yrs.
 60.45% Male
 500000
 1
 0
 1
 kalsner_17_ASD_discovery_cases
 Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
 100
 All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
 Range, 21 mos.-17 yrs.
 76.0% Male
 402000
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 973507
 19
 9
 28
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 327151
 5
 1
 6
 koufaris_16_DD/ID_discovery_cases
 Child with Prader-Willi syndrome-like symptoms born to non-consanguineous normal parents
 1
 Mild intellectual disability, neurodevelopmental delay, features of ADHD, disorders in motor control and perception, and obesity
 N/A
 Male
 13000
 1
 0
 1
 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
 2706266
 3
 1
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 579137
 5
 12
 17
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 656405
 3
 0
 3
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 782685
 12
 0
 12
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 1770196
 0
 4
 4
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 468034
 1
 0
 1
 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
 489168
 0
 1
 1
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 169000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 696932
 5
 4
 9
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 319468
 0
 1
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 319546
 1
 1
 2
 madrigal_12_ASD_discovery_cases
 Half-siblings born from the same mother presenting with intellectual disability, ASD, and dysmorphic features referred for genetic testing (CIBERER; Barcelona, Spain)
 2
 Diagnosis of ASD and intellectual disability
 Range, 9-12 yrs.
 50% Male
 NA
 2
 0
 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
 562000
 4
 3
 7
 moessner_07_ASD_discovery_cases
 Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
 400
 ASD
 
 
 1660000
 0
 1
 1
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 443000
 2
 0
 2
 moreira_14_ASD/EP_discovery_cases
 ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
 531
 ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
 N/A
 N/A
 812000
 1
 0
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 1633000
 3
 3
 6
 mosrati_12_ASD/MR_discovery_cases
 Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
 3
 Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
 Range, 22-31 yrs.
 66.67% Male
 871523
 1
 0
 1
 nagamani_12_ASD/DD/ID_discovery_cases
 DNA samples from patients with ASD, DD, or ID screened for CNVs involving the AUTS2 gene; 6 patients identified with AUTS2 CNVs (only 4 described in report)
 6054
 ASD, developmental delay (DD), or intellectual disability (ID).
 NA
 NA
 NA
 0
 1
 1
 nakamine_08_ASD_discovery_cases
 Autistic male proband ascertained during the course of a genetic study of autism in the Central Valley of Costa Rica
 1
 Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2.
 10 yrs. 3 mos.
 Male
 148000
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 300573
 0
 1
 1
 noor_15_DD/ADHD_discovery_cases
 Proband from a four-generation family affected with learning difficulties and neuropsychiatric phenotypes
 1
 Global developmental delay, ADHD, and behavioral problems
 10 yrs.
 Female
 129000
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 29543
 1
 0
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 413362
 4
 0
 4
 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
 2450455
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 240159
 0
 1
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 919086
 1
 5
 6
 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
 
 
 947838
 3
 4
 7
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 2218563
 8
 2
 10
 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)
 107205
 1
 1
 2
 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
 25668
 1
 0
 1
 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
 517930
 5
 2
 7
 reinthaler_14_EP_discovery_cases
 Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
 281
 Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
 N/A
 58.72% Male
 500000
 1
 6
 7
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 702000
 1
 2
 3
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 283876
 0
 2
 2
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 371381
 0
 2
 2
 salyakina_11_ASD_discovery_cases
 ASD patients from extended ASD families (defined as families with at least two affected cousins)
 97
 ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
 Range, 3-21 yrs.
 
 61188
 0
 2
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 151145
 52
 3
 55
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 535000
 3
 1
 4
 sato_12_ASD_discovery_cases_2
 Three additional affected males from four-generation family with ASD/BAP
 3
 Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
 Range, 5 yrs. 8 mos.-95 yrs.
 100% Male
 1878759
 0
 1
 1
 schuch_19_ASD_discovery_cases
  NA NA
 Childen of European descent diagnosed with idiopathic ASD
 40
 Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
 Mean, 7.83 2.95 yrs.
 90.00% Male
 395000
 1
 0
 1
 shen_10b_ASD_discovery_cases
 Father and son from a three-generation Chinese family with ASD and language delay.
 2
 Diagnosis of ASD based upon DSM-IV criteria.
 Range, 12-41 yrs.
 100% Male
 1250057
 1
 1
 2
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 277000
 1
 1
 2
 shin_15_ASD/DD/ID_discovery_cases
 Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
 96
 34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
 N/A
 69.8% Male
 855000
 1
 1
 2
 siu_16_ASD_discovery_cases
 41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T
 68
 Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.
 Range, 2-33 yrs. (median age of 25 yrs.)
 88.23% Male
 260000
 1
 0
 1
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 759982
 1
 0
 1
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 198100
 1
 0
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 413000
 1
 0
 1
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 43464
 1
 0
 1
 van_den_bossche_12_BPD_discovery_cases
 Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 676
 Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 262000
 0
 7
 7
 van_den_bossche_12_ID_discovery_cases
 Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
 260
 Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
 NA
 NA
 262000
 1
 1
 2
 van_den_bossche_12_MDD_discovery_cases
 Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 169
 Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 262000
 1
 0
 1
 van_den_bossche_12_SCZ_discovery_cases
 Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 1281
 Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 262000
 5
 6
 11
 van_der_zwaag_10_ASD_discovery_cases
 Dutch ASD patient cohort
 105
 ASD
 
 
 471000
 0
 1
 1
 werling_19_ASD_discovery_cases
  NA NA
 Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
 108
 Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
 Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
 86.11% Male
 311908
 0
 1
 1
 wintle_10_ASD_discovery_cases
 Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
 34
 26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
 Mean, 25.97 18.93
 73.53% Male
 1635300
 0
 2
 2
 wisniowiecka-kowalnik_12_ASD_discovery_cases
 ASD patients from 132 simplex and 13 multiplex families of Polish descent
 145
 Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
 Range, 3-26 yrs.
 84.83% Male
 1500000
 1
 0
 1
 wolfe_16_ID_discovery_cases
 Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
 202
 All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
 Mean age, 37 yrs. (range, 18-78 yrs.)
 63% Male
 312099
 1
 0
 1
 ye_12_ASD/BPD/MDD/SCZ_discovery_cases
 Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH
 486
 Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193
 Mean age of ASD cases, 29.8 yrs; mean age of all other cases, ~ 47 yrs.
 54.9% Male
 1900000
 0
 3
 3
 yingjun_17_ASD_discovery_cases
 ASD probands referred to the Clinical Genetics Service for genetic testing
 64
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 N/A
 N/A
 274255
 2
 0
 2
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 615999
 2
 1
 3
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 849733
 16
 15
 31

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahn_13_SCZ_discovery_controls
 Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
 98
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 311552
 1
 0
 1
 bucan_09_ASD_discovery_controls
 1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
 1488
 Controls
 
 
 591007
 0
 0
 0
 bucan_09_ASD_replication_controls
 Children of Caucasian ancestry with no history of ASDs (CHOP)
 1051
 Controls
 
 
 591007
 0
 0
 0
 cai_08_ASD_discovery_controls
 Controls
 248
 Controls
 
 70.2% Male
 120000
 0
 0
 0
 doornbos_09_15q11.2_discovery_controls
 Unselected healthy parents
 350
 Controls
 
 
 340000
 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
 306300
 8
 4
 12
 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.
 
 
 572032
 16
 410
 426
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 290000
 19
 0
 19
 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
 385003
 31
 230
 261
 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
 309819
 2
 4
 6
 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
 226404
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 252887
 1
 6
 7
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 648943
 6
 0
 6
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 1770196
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 553938
 4
 7
 11
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 noor_15_DD/ADHD_discovery_controls
 Population-based controls from POPGEN (n=1123), Ottawa Heart Institute (n=1234), HapMap Phase 3 (n=1056), Ontario Population Genomics Platform (n=416), Starr County Diabetes study (n=1794), Geneva NHS/HPFS Diabetes study (n=5966), SAGE consortium (n=1287), Health, Aging and Body Composition (Health ABC) Study (n=2566), KORA (n=1775), COGEND (n=1213), and Ontario ARCTIC (n=1120)
 19550
 Control
 N/A
 46.3% Male
 129000
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 0
 0
 0
 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)
 25668
 0
 0
 0
 reinthaler_14_EP_discovery_controls
 Unscreened population controls
 1512
 Control
 N/A
 49.93% Male
 500000
 0
 8
 8
 salyakina_11_ASD_discovery_controls
 Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
 838
 Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
 
 
 61188
 0
 4
 4
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 165352
 35
 1
 36
 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
 16115
 1
 0
 1
 van_den_bossche_12_BPD_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 262000
 2
 6
 8
 van_den_bossche_12_ID_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 262000
 2
 6
 8
 van_den_bossche_12_MDD_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 262000
 2
 6
 8
 van_den_bossche_12_SCZ_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 262000
 2
 6
 8
 van_der_zwaag_10_ASD_discovery_controls_1
 Adult Dutch (at least in 2nd degree) healthy individuals
 267
 Controls
 
 
 471000
 0
 0
 0
 van_der_zwaag_10_ASD_discovery_controls_2
 Psychiatrically unaffected, healthy adult Dutch controls
 678
 Controls
 
 
 471000
 0
 4
 4
 wintle_10_ASD_discovery_controls_2
 Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
 2357
 Controls
 
 51.3% Male
 1635300
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 abdelmoity_12_DD/ID_discovery_cases
  NA
 aCGH
  Agilent 244K
 
 
 qPCR
 ahn_13_SCZ_discovery_cases
  N/A
 Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
 PennCNV, QuantiSNP, GNOSIS
 Illumina GenomeStudio, CNVision, Nexus copy number
 Validation based on familial presence of CNV
 alayadhi_16_ASD_discovery_cases
  Saudi
 Solid phase hybridization
  Illumina HumanOmni 2.5M
 CNVPartition v.3.2.0, Penn CNV
 Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
 qPCR
 alvarez-mora_16_ASD_discovery_cases
  Spain
 aCGH, array SNP
  Agilent 180K, Affymetrix CytoScan HD
 
 Agilent Cytogenomics v2.0, Affymetrix ChAS v1.2.2
 None
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases
  N/A
 FISH, MLPA, aCGH, solid phase hybridization
  Agilent 180K, Illumina Human Cyto SNP-12 V2-1
 ADM-2
 Agilent CGH Analytcs, Illumina GenomeStudio v2011.1, CNVPartition 3.1.6
 None
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 bacchelli_20_ASD_discovery_cases
  Italian
 Solid phase hybridization
  Illumina Infinium PsychArray
 PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 bartnik_12_EP_discovery_cases
  Poland
 aCGH
  Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
 
 BCM web-based software, IMiD-web2py
 FISH
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 brandler_16_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq
 N/A
 N/A
 None
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 bucan_09_ASD_discovery_cases
 
 Solid phase hybridization
  HumanHap550 V3
 Penn CNV
 
 qPCR
 bucan_09_ASD_replication_cases
  European
 Solid phase hybridization
  HumanHap550 V3
 Penn CNV
 
 qPCR
 cai_08_ASD_discovery_cases
  205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
 MLPA
  ABI 3130 genetic analyzer (Applied Biosystem)
 
 GeneMarker
 Direct DNA sequencing qPCR, FISH
 castronovo_14_ASD/DD/EP_discovery_cases
  Italian
 aCGH
  Agilent 244K
 
 
 Microsatellite analysis, FISH
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 Solid phase hybridization (Illumina 1M SNP), qPCR
 celestino-soper_12_DD/CHD_discovery_cases
  NA
 aCGH
  Agilent OLIGO custom clinical microarrays versions 7.4 OLIGO, 6.3 OLIGO, 6.4 OLIGO, 8.0 OLIGO, Agilent 105 K-feature SignatureChip Oligo Solution whole-genome custom microarray
 
 
 None
 ceylan_18_DD/ID_discovery_cases
  Turkish
 Array SNP
  Affymetrix CytoScan Optima
 
 ChAS v.3.1
 None
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 depienne_09_ASD_discovery_cases
  89% Caucasian
 MLPA
  ABI 3730 Sequencer
 
 GeneMarker 1.70
 qPCR, FISH
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 doornbos_09_15q11.2_discovery_cases
  Dutch
 aCGH, array SNP, MLPA
  105K oligo array, Affymetrix 262K Nsp1
 
 Feature Extraction V.9., CGH analytics V.3.4.27, CNAG version 2.1
 FISH
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 fry_16_DD/ID/EP/ASD_discovery_cases
  78 White British, 1 South Asian, 1 Mixed White/South Asian
 aCGH, solid phase hybridization
  Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
 PennCNV
 Illumina BlueFuse Multi v3.1
 Solid phase hybridization (Illumina)
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 girirajan_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
 gorker_18_ASD_discovery_cases
  Turkish
 aCGH
  Agilent SurePrint G3 8x60K
 N/A
 Agilent Feature Extraction v.12.0.1.1, Agilent Cytogenomics v.2.9.2.4
 None
 guo_18_ASD/DD/ID_discovery_cases
  N/A
 WGS
  Illumina HiSeq X Ten
 dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
 
 aCGH, Sanger sequencing
 guo_19_DD/ID_discovery_cases
  China
 NGS
  Illumina HiSeq 2500
 m-HMM
 FASTQ v.0.18.1
 None
 husson_20_ASD_discovery_cases
  France
 WES
  Illumina HiSeq4000
 
 CANOES
 ddPCR, QMPSF, aCGH
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 jiao_19_EP/DD/ID_discovery_cases
  China
 WGS
  Low-coverage whole genome sequencing
 
 Illumina BclToFastq
 None
 kalsner_17_ASD_discovery_cases
  52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
 CMA
  Platform not reported
 
 
 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
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 koufaris_16_DD/ID_discovery_cases
  Cyprus
 MLPA
  Methylation-specific MLPA (MS-MLPA)
 
 
 aCGH (BlueGnome Cytochip ISCA v1.0)
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 MLPA
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 madrigal_12_ASD_discovery_cases
  Spain
 aCGH
  Agilent 244K
 
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V3.4
 qPCR
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 moessner_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 500K
 
 
 
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 moreira_14_ASD/EP_discovery_cases
  Ethnically-mixed Brazilian
 Array SNP
  Various Affymetrix platforms
 
 
 None
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 mosrati_12_ASD/MR_discovery_cases
  Tunisian
 Solid phase hybridization
  Illumina HumanCyto12v2.0 BeadChip
 QuantiSNP, PennCNV, VanillaICE
 BeadStudio V3.3
 None
 nagamani_12_ASD/DD/ID_discovery_cases
  NA
 aCGH
  Agilent custom-designed array with ~180000 oligos designed in Medical Genetics Laboratory (MGL) at Baylor College of Medicine (BCM)
 
 
 None
 nakamine_08_ASD_discovery_cases
  Costa Rican
 Array SNP
  Affymetrix 500K (NspI and StyI)
 HMM
 dChip 2006
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 noor_15_DD/ADHD_discovery_cases
  N/A
 aCGH
  Custom-designed 4x180K microarray (Oxford Gene Technology)
 
 Agilent Feature Extraction v10.7.11, CytoSure Interpret v3.4.3 (OGT)
 MLPA
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 Array SNP (Affymetrix CytoScan HD)
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 qPCR
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 reinthaler_14_EP_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
 PennCNV
 Illumina Genome Viewer
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 salyakina_11_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 None
 schuch_19_ASD_discovery_cases
  European
 aCGH
  Agilent 8x60K
 ADM-2
 Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
 None
 shen_10b_ASD_discovery_cases
  Chinese
 aCGH
  Agilent 244K
 
 DNA Analytics
 
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 shin_15_ASD/DD/ID_discovery_cases
  Korean
 MLPA
  SALSA MLPA P245 Microdeletion Syndromes probemix
 
 GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
 Array SNP (Affymetrix CytoScan 750K)
 siu_16_ASD_discovery_cases
  Hong Kong
 aCGH
  NimbleGen CGX-135K
 
 DEVA, Genoglyphix
 None
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 qPCR
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 van_den_bossche_12_BPD_discovery_cases
  264 from Belgium, 305 from Sweden, 107 from Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_ID_discovery_cases
  Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_MDD_discovery_cases
  Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_SCZ_discovery_cases
  170 from Belgium, 543 from Sweden, 568 from Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_der_zwaag_10_ASD_discovery_cases
  Dutch
 Solid phase hybridization
  HumanHap300 Beadchip
 
 Beadstudio V2.3.41
 FISH, MLPA
 werling_19_ASD_discovery_cases
  Europe
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 wintle_10_ASD_discovery_cases
  31 European, 2 East Asian, 1 African
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Human 1M-duo
 PennCNV, Birdsuite, iPattern
 QuantiSNP, Affymetrix Genotyping Console
 Solid phase hybridization
 wisniowiecka-kowalnik_12_ASD_discovery_cases
  Polish
 aCGH
  OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
 
 BCM web-based software, custom-designed IMiD-web2py software
 FISH
 wolfe_16_ID_discovery_cases
  74% White British
 aCGH
  Nimblegen 135K
 
 
 qPCR, FISH, QF-PCR
 ye_12_ASD/BPD/MDD/SCZ_discovery_cases
  NA
 Solid phase hybridization
  Illumina 1M Duo SNP chip
 PennCNV, QuantiSNP
 Illumina GenomeStudio V2010.1
 None
 yingjun_17_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  ahn_13_SCZ_discovery_controls
  N/A
  Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
  PennCNV, QuantiSNP, GNOSIS
  Illumina GenomeStudio, CNVision, Nexus copy number
 
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  bucan_09_ASD_discovery_controls
  European
  Solid phase hybridization
  HumanHap550 V3
  Penn CNV
 
 
  bucan_09_ASD_replication_controls
  European
  Solid phase hybridization
  HumanHap550 V3
  Penn CNV
 
 
  cai_08_ASD_discovery_controls
  Caucasian
  qPCR
  ABI Prism 7900 HT (Applied Biosystem)
 
  Sequence Detection
 
  doornbos_09_15q11.2_discovery_controls
  Dutch
  aCGH
 
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  noor_15_DD/ADHD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Illumina 1M-Duo, Illumina Omni 2.5M, Affymetrix 500K
 
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  reinthaler_14_EP_discovery_controls
  German
  Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
  PennCNV
  Illumina Genome Viewer
  None
  salyakina_11_ASD_discovery_controls
  727 Caucasian, 111 African-American
 
 
 
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  None
  van_den_bossche_12_BPD_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_ID_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_MDD_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_SCZ_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_der_zwaag_10_ASD_discovery_controls_1
  Dutch
  Solid phase hybridization
  HumanHap300 Beadchip
 
  Beadstudio V2.3.41
 
  van_der_zwaag_10_ASD_discovery_controls_2
  Dutch
  Solid phase hybridization
  HumanHap300 Beadchip
 
  Beadstudio V2.3.41
 
  wintle_10_ASD_discovery_controls_2
  99% European
  N/A
  N/A
  N/A
  N/A
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  abdelmoity_12_DD/ID_discovery_cases-case1
 <1 yrs
 F
 Dysmorphic features
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: NA. Dysmorphism: severe microcephaly and encephalocele. Other organ abnormalities: none.
 Intellectual disability/global developmental delay: NA.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case10
 NA
 F
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: mild. Dysmorphism: short, small nose with upturned tip. Other organ abnormalities: mild hyperextensibility, generalized keratosis.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case11
 4 yrs.
 F
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: moderate. Dysmorphism: broad eyebrows, mild synophyrs, large ears. Other organ abnormalities: widely spaced small teeth. Cinically unaffected mother.
 Intellectual disability/global developmental delay: moderate.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case12
 6 yrs.
 M
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: mild. Dysmorphism: none. Other organ abnormalities: none. Brother with 15q11.2 deletion, but parental samples NA.
 Intellectual disability/global developmental delay: moderate.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case13
 13 yrs.
 F
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: mild. Dysmorphism: microcephaly, mild prognathia, up-slanting palpebral fissures, sparse eyebrows, posteriorly rotated low set ears. Other organ abnormalities: hands with wide first digits and lowest thumbs with short fifth fingers and mild clinodactyly, mild hearing loss.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case14
 4 yrs.
 F
 Developmental delay/intellectual disability and epilepsy
 EEG: generalized. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: microcephaly, cleft lip and palate. Other organ abnormalities: none. Clinically unaffected mother.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case15
 3 yrs.
 M
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: none. Father with similar neuropsychiatric problems, identical twin also carries 15q11.2 deletion.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case16
 2 yrs.
 F
 Hypotonia
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: severe hypotonia. Clinically unaffected father.
 Intellectual disability/global developmental delay: none.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case17
 13 yrs.
 M
 Developmental delay/intellectual disability
 EEG: normal. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: severe food aversion.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case18
 8 yrs.
 F
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: abnormally shaped ears bilaterally, pointed chin, flat nasal bridge, small palpebral fissures. Other organ abnormalities: T11 hemivertebrae and scoliosis.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case19
 3 yrs.
 F
 Epilepsy
 EEG: focal. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: left hemispheric cortical dysplasia.
 Intellectual disability/global developmental delay: none.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case2
 1 yr.
 M
 Developmental delay/intellectual disability
 EEG: NA. Epilepsy type: NA. Hyperactivity/inattention: NA. Dysmorphism: hypertelorism. Other organ abnormalities: NA.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case20
 4 yrs.
 M
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: toe walking.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case21
 9 yrs.
 M
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: none.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case22
 1 yr.
 M
 Multiple congenital anomalies (MCA)
 EEG: none. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: craniosynostosis, cleft palate, both ears slightly low, left ear posteriorly rotated, hypoplastic right ear, anteverted nares, retrognathia. Other organ abnormalities: atrial septal defect, ventricular septal defect, patient ductus arteriosus, multicystic dysplastic left kidney, deformity of the right hand and forearm (radial abnormality), multiple vertebral anomalies of the thoracic and cervical regions including hemivertebra and segmental anomalies, short webbed neck, right hand syndactyly.
 Intellectual disability/global developmental delay: NA.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case23
 5 yrs.
 NA
 Developmental delay/intellectual disability and epilepsy
 EEG: focal. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: hypertelorism, long palpebral fissures. Other organ abnormalities: none.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case24
 9 yrs.
 M
 Developmental delay/intellectual disability
 EEG: NA. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: none.
 Intellectual disability/global developmental delay: severe.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case25
 7 yrs.
 F
 Developmental delay/intellectual disability
 EEG: normal. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: acquired cerebellar atrophy, prominent ataxia, chronic neutropenia.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case26
 5 yrs.
 M
 Developmental delay/intellectual disability and epilepsy
 EEG: normal. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: frontal bossing, frontal hair whorl, frontal upsweep, flat midface, flat nasal bridge. Other organ abnormalities: none.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Duplication
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case27
 NA
 NA
 NA
 Excluded from further analysis due to additional genetic abnormalities
 
 NA
 NA
  350000
 Unknown
 Deletion
 No
  abdelmoity_12_DD/ID_discovery_cases-case28
 NA
 NA
 NA
 Excluded from further analysis due to additional genetic abnormalities
 
 NA
 NA
  350000
 Unknown
 Deletion
 No
  abdelmoity_12_DD/ID_discovery_cases-case29
 NA
 NA
 NA
 Excluded from further analysis due to additional genetic abnormalities
 
 NA
 NA
  350000
 Unknown
 Deletion
 No
  abdelmoity_12_DD/ID_discovery_cases-case3
 12 yrs.
 M
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: NA. Dysmorphism: mild microcephaly. Other organ abnormalities: none. Brother with same deletion, but parental samples NA.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case30
 NA
 NA
 NA
 Excluded from further analysis due to additional genetic abnormalities
 
 NA
 NA
  350000
 Unknown
 Deletion
 No
  abdelmoity_12_DD/ID_discovery_cases-case31
 NA
 NA
 NA
 Excluded from further analysis due to additional genetic abnormalities
 
 NA
 NA
  350000
 Unknown
 Deletion
 No
  abdelmoity_12_DD/ID_discovery_cases-case32
 NA
 NA
 NA
 Excluded from further analysis due to additional genetic abnormalities
 
 NA
 NA
  350000
 Unknown
 Duplication
 No
  abdelmoity_12_DD/ID_discovery_cases-case33
 NA
 NA
 NA
 Excluded from further analysis due to additional genetic abnormalities
 
 NA
 NA
  350000
 Unknown
 Duplication
 No
  abdelmoity_12_DD/ID_discovery_cases-case4
 13 yrs.
 M
 Developmental delay/intellectual disability and epilepsy
 EEG: generalized. Epilepsy type: generalized. Hyperactivity/inattention: NA. Dysmorphism: none. Other organ abnormalities: none.
 Intellectual disability/global developmental delay: moderate.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case5
 1 yr.
 M
 Cardiac anomalies
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: heart murmur (normal EKG).
 Intellectual disability/global developmental delay: none.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case6
 8 yrs.
 F
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention mild:. Dysmorphism: none. Other organ abnormalities: small pectus excavatum and mildly high palate. Sister with 15q11.2 deletion; clinically unaffected father.
 Intellectual disability/global developmental delay: moderate.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case7
 6 yrs.
 M
 Developmental delay/intellectual disability
 EEG: normal. Epilepsy type: none. Hyperactivity/inattention: moderate. Dysmorphism: macrocephaly, frontal bossing. Other organ abnormalities: hypotonia, high arched palate.
 Intellectual disability/global developmental delay: moderate.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case8
 2 yrs.
 M
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: alar flaring. Other organ abnormalities: mild syndactyly. Two sisters with 15q11.2 deletion; clinically unaffected mother.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  abdelmoity_12_DD/ID_discovery_cases-case9
 3 yrs.
 M
 Developmental delay/intellectual disability
 EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: moderate. Dysmorphism: macrocephaly. Other organ abnormalities: none. Mother with similar neuropsychiatric problems.
 Intellectual disability/global developmental delay: mild.
 NA
 NA
  350000
 Unknown
 Deletion
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID1358
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 22645574
 23220738
  575165
 GRCh38
 Deletion
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID448
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 20352819
 22308242
  1955424
 GRCh38
 Deletion
 No
  alayadhi_16_ASD_discovery_cases-caseAUT1-1
 N/A
 M
 Autism
 CARS score of 30.5; Social Responsiveness Scale (SRS) score N/A; Sensory profile score of 138.
 
 24136058
 24193009
  56952
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT1-2
 N/A
 M
 Autism
 CARS score of 37.0; Social Responsiveness Scale (SRS) score of 76; Sensory profile score of 137.
 
 24136058
 24193009
  56952
 GRCh38
 Deletion
 Yes
  allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case10
  NA NA
 6 yrs.
 F
 ASD, developmental delay, learning disabilities, and epilepsy/seizures
 Birth/neonatal history: uneventful prenatal period; birth weight 25th %ile, length 25th %ile, OFC 80th %ile; neonatal hypotonia. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Epilepsy/seizures: seizures. Visual evaluation: strabismus, hypermetropia. Dysmorphic features: high forehead, hypertelorism, short nose with anteverted nares, marked philtrum. Family history: phenotypically normal mother.
 Learning disabilities
 18668097
 20220616
  1552520
 GRCh37
 Duplication
 No
  allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case32
  NA NA
 9 yrs.
 M
 ASD, developmental delay, and learning disabilities
 Birth/neonatal history: birth weight 75th %ile, length 90th %ile, OFC 90th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders.
 Learning disabilities
 20276449
 22221303
  1944855
 GRCh38
 Duplication
 No
  alvarez-mora_16_ASD_discovery_cases-caseASD-12
 N/A
 M
 ASD
 Case fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R. Family history: father meets criteria for broader autism phenotype.
 
 21243569
 22308242
  1064674
 GRCh38
 Duplication
 No
  alvarez-mora_16_ASD_discovery_cases-caseASD-58
 N/A
 M
 ASD
 Case fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R.
 
 22584746
 23102647
  517902
 GRCh38
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient15
 7 yrs.
 F
 Developmental delay and epilepsy
 Genetics: chromosomal anomaly, SMC15. Developmental milestones: psychomotor delay, speech delay; age of sitting, 12 months; age of walking, N/A. Motor and musculoskeletal evaluation: global hypotonia. Behavioral/psychiatric evaluation: outbursts of laughter. Epilepsy/seizures: yes (sporadic episode of absence and atonic crisis). EEG: abnormal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter). Other features: none reported. Dysmorphic features: mild facial dysmorphism (suborbital edema, deep set eyes, narrow palpebral fissures, upturned nose, long philtrum, attached ear lobule). Growth parameters: short stature; head circumference N/A (1 SD), weight of 10 kg (-0.25 SD), and height of 71 cm (-2.5 SD) at age of 17 months. Family history: maternal age at birth, 32 yrs.; paternal age at birth, 33 yrs.
 Learning disability
 BP1 (precise start not provided)
 BP2 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient26
 9 yrs.
 M
 ASD
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: mild speech delay; age of sitting, N/A; age of walking, 10 months. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism. Epilepsy/seizures: none. EEG: abnormal. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: hypopigmented skin. Growth parameters: head circumference of 50 cm (-1 SD), weight of 18.200 kg (1 SD), and height of 111 cm (1.8 SD) at age of 4.5 years. Family history: maternal age at birth, 33 yrs.; paternal age at birth, 27 yrs.
 Learning disability
 BP1 (precise start not provided)
 prox.BP2-BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient27
 4.5 yrs.
 M
 ASD
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: speech delay; age of sitting, N/A; age of walking, 12 months. Language and communication evaluation: no verbal language. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism, no eye-to-eye contact, anxiety, gesture stereotypies, sleep disturbance. Epilepsy/seizures: none reported. EEG: not performed yet. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: facial dysmorphism. Growth parameters: head circumference of 49.5 cm (-1.5 SD), weight of 18 kg (0.5 SD), and height of 109 cm (1 SD) at age of 4.5 years. Family history: maternal age at birth, 30.5 yrs.; paternal age at birth, 33 yrs.
 Learning disability
 prox.BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient28
 4 mos.
 F
 Epilepsy
 Patient died at 4 months of age. Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay. Motor and musculoskeletal evaluation: hypotonia, proximal implantation of thumbs. Behavioral/psychiatric evaluation: N/A. Epilepsy/seizures: yes (status epilepticus). EEG: abnormal. Brain imaging: abnormal brain MRI (triventricular dilation without other abnormalities). Other features: none reported. Dysmorphic features: facial dysmorphism (low set posteriorly rotated ears, smooth philtrum, narrow palpebral fissures). Growth parameters: N/A. Family history: maternal age at birth, N/A; paternal age at birth, N/A.
 
 prox.BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient29
 7.5 yrs.
 M
 ASD
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: slight speech delay; age of sitting, N/A; age of walking, 12 months. Language and communication evaluation: speech problem (phonologic syntaxic dysphasia); slight speech delay with dysarthria, some difficulties in communication that improved with time. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism; anxiety. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: facial dysmorphism. Growth parameters: head circumference of 50 cm (-1.5 SD), weight of 18 kg (-1 SD), and height of 115 cm (-0.25 SD) at age of 6.5 years. Family history: maternal age at birth, 22 yrs.; paternal age at birth, 33 yrs.
 Learning disability, normal intellectual function
 prox.BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient30
 5 yrs.
 M
 Developmental delay
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay; speech delay; age of sitting, 12 months; age of walking, 24 months. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: no disturbances reported. Epilepsy/seizures: none reported. EEG: not performed yet. Brain imaging: normal brain MRI. Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference not yet determined, weight of 16.600 kg (M), and height of 109 cm (1 SD) at age of 4.5 years. Family history: maternal age at birth, N/A; paternal age at birth, N/A.
 Learning disability
 BP1 (precise start not provided)
 BP2 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  annunziata_21_ASD_discovery_cases-caseIB248
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD (ADOS comparative score 6, ADOS social affect domain score 0.7, ADOS restricted and repetitive behaviors domain score 0.5). Birth/neonatal history: listeriosis at 37 weeks gestation; delivery by caesarean section at 37 weeks gestation due to fetal distress. EEG: normal. Brain imaging: lateral ventricular dilatation, dysmorphic hyppocampus, thin corpus callosum. Additional medical history: congenital urinary malformation. Dysmorphic features: none. Growth parameters: height > 97th percentile, weight 90th-97th percentile, head circumference 50th-75th percentile. Family history: positive for neuropsychiatric disorders (psychiatric disorders in maternal grandfather, neurologic autoimmune disorder in paternal grandfather).
 Total IQ/GQ 46
 22612611
 23107411
  494801
 GRCh38
 Deletion
 Yes
  annunziata_21_ASD_discovery_cases-caseIB251
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD (ADOS comparative score 6, ADOS social affect domain score 1.2, ADOS restricted and repetitive behaviors domain score 0.25. Birth/neonatal history: threatened miscarriage during second trimester, treated with tocolytic drugs; threatened preterm delivery at 24 weeks gestation; delivery at term via caesarean section. EEG: norrmal. Brain imaging: normal. Additional medical history: none. Dysmorphic features: none. Growth parameters: height 10th-25th %ile, weight 10th-25th %ile, head circumference 10th-25th %ile. Family history: positive for neurodevelopmental disorders (intellectual disability and language retardation in maternal family).
 Total IQ/GQ 96
 22612611
 23226874
  614264
 GRCh38
 Duplication
 Yes
  bacchelli_20_ASD_discovery_cases-caseAB111
  NA NA
 N/A
 M
 ASD
 Diagnosis of PDD according to DSM-IV
 
 22644384
 23226874
  582491
 GRCh38
 Duplication
 Yes
  bartnik_12_EP_discovery_cases-case5
 NA
 F
 Epilepsy
 Age of onset of epilepsy: 3 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME) with myoclonus and generalized tonic-clonic seizures (GTCS), and absence seizures with eyelid myoclonus. Headaches. Parental phenotype: unknown.
 Normal IQ
 22811062
 23030925
  219864
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case27
 9 yrs. 10 mos.
 M
 Autism and developmental delay/intellectual disability
 Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
 Moderate DD/ID
 22787972
 23088545
  300574
 GRCh38
 Duplication
 Yes
  brandler_16_ASD_discovery_cases_case1
 N/A
 N/A
 ASD
 Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
 
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 No
  brandler_16_ASD_discovery_cases_case2
 N/A
 N/A
 ASD
 Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
 
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 No
  brandler_18_ASD_discovery_cases-caseSSC02782
 N/A
 M
 ASD
 Case from SSC cohort
 
 22491296
 23126367
  635072
 GRCh38
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient38
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient39
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient40
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient41
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient42
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient43
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient44
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient45
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient46
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient47
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient48
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient49
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient50
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient51
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient52
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient53
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient54
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient55
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient56
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient57
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient58
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient59
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient60
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient61
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient62
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient63
 NA
 
 ASD
 NA
 NA
 
 
  591007
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient16
 NA
 
 ASD
 NA
 NA
 
 
  24921
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient17
 NA
 
 ASD
 NA
 NA
 
 
  926360
 Unknown
 Deletion
 Yes
  cai_08_ASD_discovery_cases-AU013203
 7.1
 M
 Autism
 Non-verbal language 14, Social 24, Repetitive behavior 5, Onset 5, Raven NA
 NA
 
 
  120000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU013204
 7.1
 M
 Autism
 Non-verbal language 14, Social 23, Repetitive behavior 4, Onset 5, Raven NA
 NA
 
 
  120000
 Unknown
 Duplication
 Yes
  castronovo_14_ASD/DD/EP_discovery_cases-case1
 3 yrs. 9 mos.
 M
 Autism, developmental delay, and epilepsy
 Case diagnosed with autism (formal evaluation using ADOS). Birth/neonatal history: pregnancy and delivery at term without complication; birth weight of 4120 g (90th-97th %ile), length of 52 cm (75th %ile), and OFC of 35 cm (50th %ile); Apgar scores of 9-10. Lanaguage and communication evaluation: absence of verbal communication. Motor and musculoskeletal evaluation: severe generalized hypotonia with ataxic gait and poor chewing. Behavioral/psychiatric evaluation: motor stereotypies of the lips, tongue, and hands; inconstant eye contact, use of mother's hands, escape into his own world, and stereotyped search for sound and tactile stimuli noted; not toilet trained. Epilepsy/seizures: "critical episodes", characterized by upper limb extension and deviation of gaze upwards lasting for periods of a few seconds, occurred at age of 6 months; epilepsy successfully treated with Depakine. EEG: sharp and wave anomalies in a disorganized context, which disappeared under therapy. Additional medical history: constipation, recurrent otitis reported by mother at age of 19 months. Dysmorphic features: mild craniofacial dysmorphism; arched eyebrows, hypertelorism, wide mouth. Growth parameters: weight of 16.4 kg (50th-85th %ile), height of 101 cm (~50th %ile), and OFC of 49.5 cm (15th-50th %ile) at age of 3 years 9 months. Family history: third-born child of healthy, non-consanguineous parents (at time of birth, mother was 39 and father was 35); two healthy older brothers; mother had two prior miscarriages, both in first trimester.
 Severe developmental delay
 22358243
 23204016
  845774
 GRCh38
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11149
 NA
 M
 ASD
 NA
 NA
 20383293
 20428318
  45026
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11265
 NA
 M
 ASD
 NA
 NA
 22436366
 23037199
  600834
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11443
 NA
 M
 ASD
 NA
 NA
 20383293
 22308242
  1924950
 GRCh38
 Deletion
 Yes
  celestino-soper_12_DD/CHD_discovery_cases-patient6
 3 yrs.
 M
 Developmental delay (DD)
 Diagnosis of sensory processing disorder with developmental dyspraxia. Birth/neonatal history: no complications during pregnancy; born after an induced vaginal delivery due to maternal hypertension. Developmental milestones: global developmental and learning delays. Language and communication evaluation: speech problems; did not speak any words at time of evaluation; reported use of two signs, better receptive language than expressive language, usage of a lot of body language. Motor and musculoskeletal evaluation: hypotonia; fatigue; lack of coordination. Behavioral and psychiatric evalation: hyperactivity, easily distracted, destructive, wild. Epilepsy/seizures: history of febrile seizures. Other medical concerns or comorbidites: tracheostomy, heel cord release, history of G-tube (removed). Brain imaging: tiny frontal lobe hemorrhages on an MRI performed a few days after his birth; arachnoid cyst on CT. Cardiac evaluation: heart murmur, atrial septal defect, and bicuspid aortic valve. Recurrent infections: asthma and recurrent aspiration pneumonia. Hearing evaluation: mild hearing loss on Auditory Brainstem Response Evaluation. Dysmorphic features: stocky appearance, frontal upsweep, wide spaced and deep set eyes, broad forehead, mild micrognathia (status post tracheostomy), small thumbs, biparietal bossing, small ears, narrow alveolar archis, missing teeth, mandibular hypoplasia, a history of jaw distraction, eczema, possible submucous cleft palate, flared ribs, and bilateral clinodactyly. Family history: parental blood samples NA.
 Global developmental and learning delays
 20360277
 22308242
  1947966
 GRCh38
 Duplication
 No
  ceylan_18_DD/ID_discovery_cases-case13
  NA NA
 6 yrs.
 N/A
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay. Dysmorphic features: hypertelorism, short palpebral fissures, blepharophimosis. Other findings: corpus callosum agenesis, hypothyroidism.
 Intellectual disability
 22596491
 23102647
  506157
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case130
  NA NA
 N/A
 M
 Developmental delay and ADHD
 Short stature, developmental delay, ADHD and facial dysmorphism
 
 22663442
 23102647
  439206
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case270
  NA NA
 N/A
 M
 Developmental delay and epilepsy
 Convulsions, congenital anomalies, developmental delay, epilepsy, hearing deficit, facial dysmorphism and hirsutism
 
 22590297
 23102647
  512351
 GRCh38
 Deletion
 No
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 20235273
 22300068
  2064796
 GRCh38
 Duplication
 No
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 24429592
 24473437
  43846
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU001505
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20343286
  1896864
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU002105
 NA
 NA
 Non-syndromic ASD
 Diagnosis: NQA/Autism on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20343286
  1896864
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU0039303
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20079140
  1632718
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU007605
 NA
 NA
 Non-syndromic ASD
 Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 19464910
 20517099
  1052189
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU017704
 NA
 NA
 Non-syndromic ASD
 Diagnosis: Autism/Not spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 19464910
 20343286
  878376
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU018304
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20079140
  1632718
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU022204
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20079140
  1632718
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU038303
 NA
 NA
 Non-syndromic ASD
 Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20343286
  1896864
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU038703
 NA
 NA
 Non-syndromic ASD
 Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20079140
  1632718
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU057905
 NA
 NA
 Non-syndromic ASD
 Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18446422
 20343286
  1896864
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU067208
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: syndactyly
 
 18427103
 20089383
  1662280
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU1105303
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 18427103
 19407629
  980526
 Unknown
 Deletion
 No
  depienne_09_ASD_discovery_cases-patient5
 5
 M
 Autism
 No language; no epielpsy, but abnormal EEG; hypotonia, motor delay; frequent respiratory infections during infancy; macrocephaly, retrognathia; normal brain MRI
 Severe MR
 
 
  254000
 Unknown
 Deletion
 Yes
  depienne_09_ASD_discovery_cases-patient6
 13
 F
 Autism
 No speech delay; no epilepsy; developmental coordination disorder, depression
 Normal IQ
 
 
  254000
 Unknown
 Deletion
 Yes
  depienne_09_ASD_discovery_cases-patient7
 9
 F
 Autism
 No speech delay; no epilepsy; ADHD combined type
 Normal IQ
 
 
  254000
 Unknown
 Deletion
 Yes
  depienne_09_ASD_discovery_cases-patient8
 5
 M
 Autism
 Functional language; epilepsy (onset 9 months); normal brain MRI
 Severe MR
 
 
  254000
 Unknown
 Duplication
 Yes
  depienne_09_ASD_discovery_cases-patient9
 15
 M
 Autism
 No language; 1 absence seizure at 11 yrs.; neonatal overgrowth, macrocephaly and increased height persist, long narrow hands & feet
 Severe MR
 
 
  254000
 Unknown
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300525
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 22693148
 23088545
  395398
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case1
 9 yrs.
 M
 ASD
 Diagnosed with a mild form of autism. Mild motor delay, delayed speech development, unusual happy appearance. Normal growth parameters, dyspraxia & mild dysmorphic features (broad forehead, hypertelorism, dysmorphic ears, high palate, slender fingers); normal CT scan
 Verbal IQ = 97, performance IQ = 102 (WISC-III) at 8 yrs.
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case2
 2.5 yrs.
 M
 Developmental delay
 Delayed motor milestones & speech development. Good eye contact, no behavioral problems, unusual happy appearance. Feeding problems as infant. Normal growth parameters, dyspraxia, dysmorphic features (plagiocephaly, broad forehead, hypertelorism, dysmorphic ears, cleft palate). Tracheolaryngomalacia.
 NA
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case3
 8 yrs.
 M
 OCD
 Developed obsessive-compulsive behavior at 7 yrs. Mild motor development delay, speech development delay, quiet and shy behavior, hand flapping when agitated. Neonatal feeding problems. Recurrent infections. Normal growth parameters. Motor dyspraxia. Dysmorphic features (plagiocephaly, broad forehead, hypertelorism, dysmorphic ears, pectus excav, slender fingers)
 IQ of 60 (WISC-III) at 6 yrs.
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case4
 15 yrs.
 F
 OCD
 Obsessive-compulsive behavior, food craving, skin picking. Intra-uterine growth retardation. Feeding problems as an infant. Motor and speech development delay. Dyspraxia. Dysmorphic features: dysmorphic ears, narrow palate, pectus excav, slender fingers. Heart defect. Hearing impaired. Omphalocele, entropion, club feet. Normal height & head circumference, central obesity with slender arms & legs. Broad, insecure gait.
 NA
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case5
 5 yrs.
 M
 ADHD
 Hypotonia & feeding problems as an infant. Delayed motor & speech development. Behavioral difficulties with attention deficit. Convlusions. Normal growth parameters, some dysmorphic features (plagiocephaly, broad forehead, hypertelorism). Genital abnormalities, recurrent infections, 13 pairs of ribs.
 IQ of 70-92 (WISC-III)
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case6
 21 yrs.
 M
 ASD
 Diagnosed with a mild form of autism & ADHD. Delayed motor milestones and speech development. Exam at 21 yrs. showed normal growth parameters, normal neurological examination, and minor dysmorphic features (dysmorphic ears, slender fingers).
 IQ of 55-75 (WISC-III) at 5 yrs.
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case7
 3 months
 M
 N/A
 Heart defect. Normal growth parameters, normal psychomotor development, and no dysmorphic features at 3 months.
 NA
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case8
 3 yrs.
 M
 ASD
 Diagnosed with autism at 2 yrs 8 months. Mild motor delay, delayed speech development. Normal growth parameters. Plagiocephaly & broad forehead.
 Non-verbal IQ estimated at 112.
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  doornbos_09_15q11.2_discovery_cases-case9
 27 yrs.
 F
 ASD
 Delayed general, motor, & speech development. Self-injurious behavior. Hypotonia & feeding problems at birth. Epilepsy. Intra-uterine growth retardation. Physical exam at 26 yrs.: short stature (-4 sd), microcpehaly (-5 sd), dysmorphic features (hypertelorism, dysmorphic ears, cleft palate, slender fingers). Dysplastic inner ear.
 Moderate MR
 22784509
 23124432
  339924
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14226_3600
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23319714
 23424164
  104451
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16038_1571018001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24109283
 24422150
  312868
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4163_100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24109283
 24422150
  312868
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5419_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24059521
 24109283
  49763
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0000820
 N/A
 F
 ASD
 Family history: mother presents with anxiety and OCD; father negative for ASD, other mental health diagnoses unknown.
 
 22810748
 23037153
  226406
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0023689
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
 
 22810748
 23037153
  226406
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0038120
 N/A
 M
 ASD
 Family history: mother presents with anxiety, social anxiety, OCD and depression.
 
 22812162
 23037153
  224992
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0040659
 N/A
 M
 ASD
 Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
 
 22810748
 23037153
  226406
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0042391
 N/A
 M
 ASD
 Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
 
 22810748
 23037153
  226406
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0046982
 N/A
 M
 ASD
 Family history: father presents with ASD, anxiety (social anxiety), and depression.
 
 22810748
 23037153
  226406
 GRCh38
 Deletion
 No
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR605
 41 yrs.
 M
 Intellectual disability and epilepsy
 Clinical features: intellectual disability, seizures. Age of seizure onset: <16 years. Epilepsy syndrome: unknown. Seizure types: unknown.
 Intellectual disability
 22600363
 23226874
  626512
 GRCh38
 Duplication
 Yes
  gai_11_ASD_discovery_cases-AU1466304
 
 
 Autism
 
 
 24847119
 24869979
  22861
 GRCh38
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patientN
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patientO
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si1
 12
 M
 Autism
 ADOS score: 8. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 120; Non-verbal IQ, 126.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si1
 12
 M
 Autism
 ADOS score: 8. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 120; Non-verbal IQ, 126.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si10
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 103; Non-verbal IQ, 100.
 22097083
 22290846
  193764
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si10
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 103; Non-verbal IQ, 100.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si100
 17
 M
 Autism
 ADOS score: 7. Vineland composite score: 83.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 33; Non-verbal IQ, 63.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si101
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 66.
 Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si101
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 66.
 Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si102
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
 22133581
 22290846
  157266
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si102
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si102
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si103
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 106.
 No mental retardation/intellectual disability. Full-scale IQ, 116; Verbal IQ, 103; Non-verbal IQ, 121.
 22075724
 22290846
  215123
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si103
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 106.
 No mental retardation/intellectual disability. Full-scale IQ, 116; Verbal IQ, 103; Non-verbal IQ, 121.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si104
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 90; Non-verbal IQ, 88.
 22137660
 22272088
  134429
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si104
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 90; Non-verbal IQ, 88.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si104
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 90; Non-verbal IQ, 88.
 21985266
 22043516
  58251
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si106
 17
 M
 Autism
 ADOS score: 9. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 52; Non-verbal IQ, 88.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si106
 17
 M
 Autism
 ADOS score: 9. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 52; Non-verbal IQ, 88.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si108
 8
 F
 Autism
 ADOS score: 9. Vineland composite score: 87.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 98; Non-verbal IQ, 97.
 22137660
 22264497
  126838
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si108
 8
 F
 Autism
 ADOS score: 9. Vineland composite score: 87.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 98; Non-verbal IQ, 97.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si109
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 62.
 Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 79; Non-verbal IQ, 64.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si109
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 62.
 Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 79; Non-verbal IQ, 64.
 22137660
 22199051
  61392
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si11
 10
 F
 Autism
 ADOS score: 7. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 67; Non-verbal IQ, 65.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si11
 10
 F
 Autism
 ADOS score: 7. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 67; Non-verbal IQ, 65.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si110
 6
 M
 Autism
 ADOS score: 6. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 97; Non-verbal IQ, 111.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si110
 6
 M
 Autism
 ADOS score: 6. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 97; Non-verbal IQ, 111.
 22137660
 22188197
  50538
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si111
 8
 M
 Autism
 ADOS score: 9. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 97.
 21985266
 22272088
  286823
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si111
 8
 M
 Autism
 ADOS score: 9. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 97.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si113
 8
 F
 Autism
 ADOS score: 6. Vineland composite score: 94.
 No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 81; Non-verbal IQ, 84.
 21985266
 22272088
  286823
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si113
 8
 F
 Autism
 ADOS score: 6. Vineland composite score: 94.
 No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 81; Non-verbal IQ, 84.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si114
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 96.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
 22133581
 22272088
  138508
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si114
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 96.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si114
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 96.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si115
 12
 F
 Autism
 ADOS score: 7. Vineland composite score: 61.
 Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 31; Non-verbal IQ, 45.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si116
 7
 M
 Autism
 ADOS score: 10. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 88; Non-verbal IQ, 100.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si117
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
 22137660
 22264497
  126838
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si117
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si118
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 56; Non-verbal IQ, 76.
 21985266
 22266725
  281460
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si119
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 86; Non-verbal IQ, 94.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si119
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 86; Non-verbal IQ, 94.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si12
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 87.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 99; Non-verbal IQ, 108.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si120
 7
 F
 Autism
 ADOS score: 10. Vineland composite score: 63.
 No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
 22057388
 22272088
  214701
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si120
 7
 F
 Autism
 ADOS score: 10. Vineland composite score: 63.
 No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si121
 9
 M
 Autism
 ADOS score: 5. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 136; Non-verbal IQ, 110.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si121
 9
 M
 Autism
 ADOS score: 5. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 136; Non-verbal IQ, 110.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si122
 8
 F
 Autism
 ADOS score: 6. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 122; Non-verbal IQ, 95.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si123
 11
 M
 Autism
 ADOS score: 7. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si123
 11
 M
 Autism
 ADOS score: 7. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si124
 14
 M
 Autism
 ADOS score: 6. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si124
 14
 M
 Autism
 ADOS score: 6. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si125
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 89.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
 22003103
 22290846
  287744
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si126
 6
 M
 Autism
 ADOS score: 6. Vineland composite score: 65.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 78; Non-verbal IQ, 85.
 21985266
 22133581
  148316
 GRCh38
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si127
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 90.
 22097083
 22290846
  193764
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si127
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 90.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si127
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 90.
 21985266
 22079861
  94596
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si128
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 83; Non-verbal IQ, 98.
 22027709
 22133581
  105873
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si129
 6
 M
 Autism
 ADOS score: 9. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si129
 6
 M
 Autism
 ADOS score: 9. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si130
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 68.
 Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 54; Non-verbal IQ, 74.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si130
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 68.
 Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 54; Non-verbal IQ, 74.
 22045190
 22133581
  88392
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si131
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 82; Non-verbal IQ, 74.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si131
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 82; Non-verbal IQ, 74.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si132
 16
 F
 Autism
 ADOS score: NA. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 117; Non-verbal IQ, 113.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si132
 16
 F
 Autism
 ADOS score: NA. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 117; Non-verbal IQ, 113.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si133
 12
 F
 Autism
 ADOS score: 9. Vineland composite score: 67.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si133
 12
 F
 Autism
 ADOS score: 9. Vineland composite score: 67.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si135
 13
 M
 Autism
 ADOS score: 5. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 108; Non-verbal IQ, 93.
 21985266
 22043516
  58251
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si136
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 95.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si136
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 95.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si137
 13
 M
 Autism
 ADOS score: 10. Vineland composite score: 74.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 39; Non-verbal IQ, 71.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si137
 13
 M
 Autism
 ADOS score: 10. Vineland composite score: 74.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 39; Non-verbal IQ, 71.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si138
 9
 M
 Autism
 ADOS score: 9. Vineland composite score: 69.
 Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si138
 9
 M
 Autism
 ADOS score: 9. Vineland composite score: 69.
 Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si139
 12
 M
 Autism
 ADOS score: 8. Vineland composite score: 69.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 50; Verbal IQ, 62; Non-verbal IQ, 44.
 22120193
 22287942
  167750
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si139
 12
 M
 Autism
 ADOS score: 8. Vineland composite score: 69.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 50; Verbal IQ, 62; Non-verbal IQ, 44.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si14
 8
 M
 Autism
 ADOS score: 5. Vineland composite score: 60.
 Severe mental retardation/intellectual disability. Full-scale IQ, 38; Verbal IQ, 31; Non-verbal IQ, 44.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si14
 8
 M
 Autism
 ADOS score: 5. Vineland composite score: 60.
 Severe mental retardation/intellectual disability. Full-scale IQ, 38; Verbal IQ, 31; Non-verbal IQ, 44.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si140
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
 22075724
 22290846
  215123
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si140
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si140
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si141
 10
 F
 Autism
 ADOS score: 6. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 77; Non-verbal IQ, 80.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si141
 10
 F
 Autism
 ADOS score: 6. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 77; Non-verbal IQ, 80.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si142
 6
 M
 Autism
 ADOS score: 4. Vineland composite score: 90.
 No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si142
 6
 M
 Autism
 ADOS score: 4. Vineland composite score: 90.
 No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si143
 10
 M
 Autism
 ADOS score: 4. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 108; Non-verbal IQ, 119.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si143
 10
 M
 Autism
 ADOS score: 4. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 108; Non-verbal IQ, 119.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si144
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 82; Non-verbal IQ, 96.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si146
 18
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 73; Non-verbal IQ, 95.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si146
 18
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 73; Non-verbal IQ, 95.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si148
 6
 F
 Autism
 ADOS score: 5. Vineland composite score: 87.
 No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 107; Non-verbal IQ, 100.
 22137660
 22263283
  125624
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si148
 6
 F
 Autism
 ADOS score: 5. Vineland composite score: 87.
 No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 107; Non-verbal IQ, 100.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si149
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si15
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 86; Non-verbal IQ, 109.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si15
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 86; Non-verbal IQ, 109.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si150
 9
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si150
 9
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si151
 8
 F
 Autism
 ADOS score: 7. Vineland composite score: 50.
 Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si151
 8
 F
 Autism
 ADOS score: 7. Vineland composite score: 50.
 Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si152
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si152
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si154
 7
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 22097083
 22290846
  193764
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si154
 7
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 21985266
 22079861
  94596
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si155
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si156
 10
 F
 Autism
 ADOS score: 5. Vineland composite score: 67.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 62; Non-verbal IQ, 55.
 22137660
 22270538
  132879
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si158
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 83; Non-verbal IQ, 94.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si158
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 83; Non-verbal IQ, 94.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si159
 14
 F
 Autism
 ADOS score: 6. Vineland composite score: 55.
 Severe mental retardation/intellectual disability. Full-scale IQ, 28; Verbal IQ, 19; Non-verbal IQ, 32.
 22137660
 22272088
  134429
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si16
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.
 22003103
 22290846
  287744
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si16
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si161
 17
 F
 Autism
 ADOS score: 6. Vineland composite score: 61.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 80; Non-verbal IQ, 74.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si161
 17
 F
 Autism
 ADOS score: 6. Vineland composite score: 61.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 80; Non-verbal IQ, 74.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si162
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si162
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si163
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
 22137660
 22286774
  149115
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si163
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si164
 8
 M
 Autism
 ADOS score: 9. Vineland composite score: 59.
 Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 22; Non-verbal IQ, 43.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si166
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 67.
 Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 30; Non-verbal IQ, 45.
 22137660
 22272088
  134429
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si166
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 67.
 Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 30; Non-verbal IQ, 45.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si167
 15
 M
 Autism
 ADOS score: 8. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si167
 15
 M
 Autism
 ADOS score: 8. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si168
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 65.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 104; Non-verbal IQ, 84.
 22133581
 22272088
  138508
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si168
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 65.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 104; Non-verbal IQ, 84.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si169
 9
 F
 Autism
 ADOS score: 10. Vineland composite score: 57.
 Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 65; Non-verbal IQ, 60.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si17
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 100.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si17
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 100.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si170
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si170
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si171
 17
 F
 Autism
 ADOS score: 10. Vineland composite score: 67.
 Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 63; Non-verbal IQ, 66.
 22057388
 22272088
  214701
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si171
 17
 F
 Autism
 ADOS score: 10. Vineland composite score: 67.
 Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 63; Non-verbal IQ, 66.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si171
 17
 F
 Autism
 ADOS score: 10. Vineland composite score: 67.
 Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 63; Non-verbal IQ, 66.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si172
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 148; Verbal IQ, 113; Non-verbal IQ, 158.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si172
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 148; Verbal IQ, 113; Non-verbal IQ, 158.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si173
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
 22137660
 22287942
  150283
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si173
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si174
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si174
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si174
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si175
 16
 F
 Autism
 ADOS score: 5. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
 22137660
 22272088
  134429
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si175
 16
 F
 Autism
 ADOS score: 5. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si176
 14
 M
 Autism
 ADOS score: 9. Vineland composite score: 52.
 Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 20; Non-verbal IQ, 29.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si176
 14
 M
 Autism
 ADOS score: 9. Vineland composite score: 52.
 Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 20; Non-verbal IQ, 29.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si177
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si177
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si178
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 70.
 Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
 22137660
 22266725
  129066
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si178
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 70.
 Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si179
 10
 M
 Autism
 ADOS score: 5. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 94; Non-verbal IQ, 108.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si179
 10
 M
 Autism
 ADOS score: 5. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 94; Non-verbal IQ, 108.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si18
 13
 M
 Autism
 ADOS score: 9. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 106; Non-verbal IQ, 91.
 22137660
 22286774
  149115
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si18
 13
 M
 Autism
 ADOS score: 9. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 106; Non-verbal IQ, 91.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si180
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si180
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si180
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
 21985266
 22079861
  94596
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si181
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 75; Non-verbal IQ, 92.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si181
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 75; Non-verbal IQ, 92.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si181
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 75; Non-verbal IQ, 92.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si182
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 62.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si182
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 62.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si182
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 62.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si183
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si183
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si184
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si185
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 89; Non-verbal IQ, 90.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si186
 11
 M
 Autism
 ADOS score: 5. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
 24110224
 24225794
  115571
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si187
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 74; Non-verbal IQ, 105.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si188
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si188
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si189
 9
 F
 Autism
 ADOS score: 10. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 99; Non-verbal IQ, 119.
 22133581
 22270538
  136958
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si19
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.
 22018738
 22133581
  114844
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si190
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 96; Non-verbal IQ, 72.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si190
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 96; Non-verbal IQ, 72.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si191
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 108; Non-verbal IQ, 102.
 21985266
 22092727
  107462
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si192
 7
 M
 Autism
 ADOS score: 6. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si193
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si194
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
 21985266
 22287942
  302677
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si194
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si196
 17
 M
 Autism
 ADOS score: NA. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 116; Non-verbal IQ, 117.
 19080050
 19423573
  343523
 NCBI36
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si197
 15
 M
 Autism
 ADOS score: 9. Vineland composite score: 57.
 Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si197
 15
 M
 Autism
 ADOS score: 9. Vineland composite score: 57.
 Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si198
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 103.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 105; Non-verbal IQ, 103.
 22057388
 22286774
  229387
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si198
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 103.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 105; Non-verbal IQ, 103.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si198
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 103.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 105; Non-verbal IQ, 103.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si199
 9
 M
 Autism
 ADOS score: 6. Vineland composite score: NA.
 No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 101; Non-verbal IQ, 109.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si2
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 95; Non-verbal IQ, 81.
 22120193
 22187045
  66853
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si20
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si20
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si200
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 91.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
 22075724
 22243304
  167581
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si200
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 91.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si200
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 91.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si201
 8
 M
 Autism
 ADOS score: 10. Vineland composite score: 64.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 61.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si202
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 123; Non-verbal IQ, 115.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si202
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 123; Non-verbal IQ, 115.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si203
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 71; Verbal IQ, 73; Non-verbal IQ, 75.
 22076279
 22287942
  211664
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si203
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 71; Verbal IQ, 73; Non-verbal IQ, 75.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si206
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 101.
 No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 114; Non-verbal IQ, 119.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si206
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 101.
 No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 114; Non-verbal IQ, 119.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si207
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si207
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si207
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si209
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 90.
 No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si209
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 90.
 No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si21
 9
 F
 Autism
 ADOS score: 10. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.
 21985266
 22287942
  302677
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si21
 9
 F
 Autism
 ADOS score: 10. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si210
 16
 M
 Autism
 ADOS score: 8. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 95; Non-verbal IQ, 87.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si210
 16
 M
 Autism
 ADOS score: 8. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 95; Non-verbal IQ, 87.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si219
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 101.
 No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 118; Non-verbal IQ, 128.
 21985266
 22272088
  286823
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si22
 6
 M
 Autism
 ADOS score: 8. Vineland composite score: 89.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 104; Non-verbal IQ, 111.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si220
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
 22133581
 22286774
  153194
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si220
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si220
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si221
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 92.
 No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 76; Non-verbal IQ, 91.
 21985266
 22286774
  301509
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si221
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 92.
 No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 76; Non-verbal IQ, 91.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si222
 16
 F
 Autism
 ADOS score: 10. Vineland composite score: 45.
 Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 46; Non-verbal IQ, 19.
 22137660
 22266725
  129066
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si224
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si224
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si225
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 69.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si225
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 69.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si226
 12
 M
 Autism
 ADOS score: 4. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si226
 12
 M
 Autism
 ADOS score: 4. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si227
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si227
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si228
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 96.
 No mental retardation/intellectual disability. Full-scale IQ, 99; Verbal IQ, 89; Non-verbal IQ, 107.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si229
 11
 F
 Autism
 ADOS score: 9. Vineland composite score: 69.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si229
 11
 F
 Autism
 ADOS score: 9. Vineland composite score: 69.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si23
 9
 M
 Autism
 ADOS score: 5. Vineland composite score: 96.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 105; Non-verbal IQ, 110.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si23
 9
 M
 Autism
 ADOS score: 5. Vineland composite score: 96.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 105; Non-verbal IQ, 110.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si230
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 75.
 Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 70; Non-verbal IQ, 60.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si230
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 75.
 Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 70; Non-verbal IQ, 60.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si231
 9
 M
 Autism
 ADOS score: 6. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 111; Non-verbal IQ, 117.
 22097083
 22290846
  193764
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si231
 9
 M
 Autism
 ADOS score: 6. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 111; Non-verbal IQ, 117.
 22010337
 22079861
  69525
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si232
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 71.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si232
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 71.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si233
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si233
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si234
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 133; Verbal IQ, 121; Non-verbal IQ, 132.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si235
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 95.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 99; Non-verbal IQ, 119.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si235
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 95.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 99; Non-verbal IQ, 119.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si236
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 98; Non-verbal IQ, 102.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si236
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 98; Non-verbal IQ, 102.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si237
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si237
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si238
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
 22076279
 22290846
  214568
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si238
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si238
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si239
 8
 M
 Autism
 ADOS score: 4. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 118; Non-verbal IQ, 129.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si239
 8
 M
 Autism
 ADOS score: 4. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 118; Non-verbal IQ, 129.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si239
 8
 M
 Autism
 ADOS score: 4. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 118; Non-verbal IQ, 129.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si243
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 83; Non-verbal IQ, 96.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si244
 17
 M
 Autism
 ADOS score: 9. Vineland composite score: 58.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si244
 17
 M
 Autism
 ADOS score: 9. Vineland composite score: 58.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si244
 17
 M
 Autism
 ADOS score: 9. Vineland composite score: 58.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si245
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 72.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si245
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 72.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si245
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 72.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si247
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 57.
 No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.
 21985266
 22054329
  69064
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si249
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
 22137660
 22286774
  149115
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si249
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si25
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 61.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 90; Non-verbal IQ, 84.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si25
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 61.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 90; Non-verbal IQ, 84.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si250
 15
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si250
 15
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si253
 12
 M
 Autism
 ADOS score: 6. Vineland composite score: 64.
 Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 30; Non-verbal IQ, 36.
 22137660
 22272088
  134429
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si254
 12
 F
 Autism
 ADOS score: 6. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si254
 12
 F
 Autism
 ADOS score: 6. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si254
 12
 F
 Autism
 ADOS score: 6. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si255
 6
 M
 Autism
 ADOS score: 5. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si255
 6
 M
 Autism
 ADOS score: 5. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si256
 14
 F
 Autism
 ADOS score: 4. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 107; Non-verbal IQ, 114.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si256
 14
 F
 Autism
 ADOS score: 4. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 107; Non-verbal IQ, 114.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si258
 12
 M
 Autism
 ADOS score: 6. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 80; Non-verbal IQ, 74.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si260
 14
 F
 Autism
 ADOS score: 10. Vineland composite score: 43.
 Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 21; Non-verbal IQ, 34.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si260
 14
 F
 Autism
 ADOS score: 10. Vineland composite score: 43.
 Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 21; Non-verbal IQ, 34.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si261
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 80.
 Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 67; Non-verbal IQ, 73.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si262
 9
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si262
 9
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si263
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 121; Non-verbal IQ, 117.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si263
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 121; Non-verbal IQ, 117.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si264
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 51.
 Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 32; Non-verbal IQ, 40.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si264
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 51.
 Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 32; Non-verbal IQ, 40.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si267
 11
 M
 Autism
 ADOS score: 7. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 91; Non-verbal IQ, 89.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si270
 12
 M
 Autism
 ADOS score: 6. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 96; Non-verbal IQ, 109.
 22137660
 22243304
  105645
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si273
 14
 M
 Autism
 ADOS score: 7. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si273
 14
 M
 Autism
 ADOS score: 7. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si273
 14
 M
 Autism
 ADOS score: 7. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si274
 10
 M
 Autism
 ADOS score: 4. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 75; Non-verbal IQ, 83.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si274
 10
 M
 Autism
 ADOS score: 4. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 75; Non-verbal IQ, 83.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si275
 15
 M
 Autism
 ADOS score: 7. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 130; Non-verbal IQ, 109.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si276
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 79; Non-verbal IQ, 98.
 21985266
 22265901
  280636
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si276
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 79; Non-verbal IQ, 98.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si279
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 128; Non-verbal IQ, 101.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si280
 15
 M
 Autism
 ADOS score: 6. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 84; Non-verbal IQ, 83.
 22077195
 22266725
  189531
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si287
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 72.
 Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 40; Non-verbal IQ, 74.
 22079861
 22290846
  210986
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si288
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 93; Non-verbal IQ, 83.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si288
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 93; Non-verbal IQ, 83.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si289
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 88; Non-verbal IQ, 91.
 22029260
 22095282
  66023
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si29
 8
 F
 Autism
 ADOS score: 6. Vineland composite score: 83.
 No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 105; Non-verbal IQ, 111.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si290
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 93; Non-verbal IQ, 97.
 22120193
 22208003
  87811
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si293
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 107; Non-verbal IQ, 134.
 22137660
 22266725
  129066
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si295
 19
 F
 Autism
 ADOS score: NA. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 123; Verbal IQ, 140; Non-verbal IQ, 109.
 22137660
 22266725
  129066
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si3
 8
 M
 Autism
 ADOS score: 10. Vineland composite score: 110.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si3
 8
 M
 Autism
 ADOS score: 10. Vineland composite score: 110.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si30
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
 22097083
 22290846
  193764
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si30
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si30
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
 21985266
 22079861
  94596
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si301
 6
 M
 Autism
 ADOS score: 6. Vineland composite score: 59.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 32; Non-verbal IQ, 49.
 21985266
 22266725
  281460
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si302
 16
 M
 Autism
 ADOS score: 9. Vineland composite score: 47.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 71; Non-verbal IQ, 82.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si302
 16
 M
 Autism
 ADOS score: 9. Vineland composite score: 47.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 71; Non-verbal IQ, 82.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si303
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 76.
 Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 56; Non-verbal IQ, 68.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si305
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 70.
 Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 22; Non-verbal IQ, 40.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si305
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 70.
 Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 22; Non-verbal IQ, 40.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si306
 14
 M
 Autism
 ADOS score: 6. Vineland composite score: 59.
 Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 26; Non-verbal IQ, 36.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si308
 11
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si308
 11
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si31
 18
 M
 Autism
 ADOS score: 9. Vineland composite score: 56.
 Profound mental retardation/intellectual disability. Full-scale IQ, 18; Verbal IQ, 19; Non-verbal IQ, 19.
 22027709
 22095282
  67574
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si310
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 66.
 Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 61; Non-verbal IQ, 70.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si310
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 66.
 Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 61; Non-verbal IQ, 70.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si311
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 67.
 Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 59; Non-verbal IQ, 59.
 22043516
 22095282
  51767
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si313
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.
 22075724
 22290846
  215123
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si313
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si314
 7
 M
 Autism
 ADOS score: 10. Vineland composite score: 94.
 No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 109; Non-verbal IQ, 109.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si314
 7
 M
 Autism
 ADOS score: 10. Vineland composite score: 94.
 No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 109; Non-verbal IQ, 109.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si315
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si315
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si316
 10
 F
 Autism
 ADOS score: 7. Vineland composite score: 92.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 122; Non-verbal IQ, 90.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si316
 10
 F
 Autism
 ADOS score: 7. Vineland composite score: 92.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 122; Non-verbal IQ, 90.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si317
 16
 M
 Autism
 ADOS score: 8. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 95; Verbal IQ, 98; Non-verbal IQ, 94.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si317
 16
 M
 Autism
 ADOS score: 8. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 95; Verbal IQ, 98; Non-verbal IQ, 94.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si317
 16
 M
 Autism
 ADOS score: 8. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 95; Verbal IQ, 98; Non-verbal IQ, 94.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si318
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
 22120193
 22290846
  170654
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si318
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si319
 12
 M
 Autism
 ADOS score: 8. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si319
 12
 M
 Autism
 ADOS score: 8. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si320
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 90.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 110; Non-verbal IQ, 101.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si320
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 90.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 110; Non-verbal IQ, 101.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si321
 8
 M
 Autism
 ADOS score: 10. Vineland composite score: 67.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si321
 8
 M
 Autism
 ADOS score: 10. Vineland composite score: 67.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si323
 15
 M
 Autism
 ADOS score: 10. Vineland composite score: 56.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si323
 15
 M
 Autism
 ADOS score: 10. Vineland composite score: 56.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si324
 16
 F
 Autism
 ADOS score: 10. Vineland composite score: 59.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 51; Verbal IQ, 28; Non-verbal IQ, 72.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si325
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 66; Verbal IQ, 58; Non-verbal IQ, 75.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si325
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 66; Verbal IQ, 58; Non-verbal IQ, 75.
 21985266
 22043516
  58251
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si326
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 96; Non-verbal IQ, 85.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si326
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 93.
 No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 96; Non-verbal IQ, 85.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si33
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 89.
 No mental retardation/intellectual disability. Full-scale IQ, 116; Verbal IQ, 114; Non-verbal IQ, 115.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si335
 14
 M
 Autism
 ADOS score: 8. Vineland composite score: 61.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 66.
 21985266
 22272088
  286823
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si335
 14
 M
 Autism
 ADOS score: 8. Vineland composite score: 61.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 66.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si340
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 73.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 51; Non-verbal IQ, 85.
 22057388
 22270558
  213171
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si340
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 73.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 51; Non-verbal IQ, 85.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si341
 17
 F
 Autism
 ADOS score: 7. Vineland composite score: 45.
 Profound mental retardation/intellectual disability. Full-scale IQ, 23; Verbal IQ, 18; Non-verbal IQ, 26.
 22027709
 22095282
  67574
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si342
 6
 M
 Autism
 ADOS score: 5. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 75; Non-verbal IQ, 89.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si342
 6
 M
 Autism
 ADOS score: 5. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 75; Non-verbal IQ, 89.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si343
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
 22120193
 22290846
  170654
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si343
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si343
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si344
 15
 M
 Autism
 ADOS score: 6. Vineland composite score: 52.
 Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 28; Non-verbal IQ, 33.
 22027709
 22092727
  65019
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si345
 13
 M
 Autism
 ADOS score: 9. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 86; Non-verbal IQ, 87.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si345
 13
 M
 Autism
 ADOS score: 9. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 86; Non-verbal IQ, 87.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si346
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si346
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si348
 17
 M
 Autism
 ADOS score: 10. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 50; Non-verbal IQ, 104.
 22137660
 22272088
  134429
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si348
 17
 M
 Autism
 ADOS score: 10. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 50; Non-verbal IQ, 104.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si35
 17
 M
 Autism
 ADOS score: 8. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si35
 17
 M
 Autism
 ADOS score: 8. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si36
 9
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 40; Non-verbal IQ, 87.
 22133581
 22290846
  157266
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si36
 9
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 40; Non-verbal IQ, 87.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si37
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si38
 15
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si38
 15
 M
 Autism
 ADOS score: 10. Vineland composite score: 70.
 No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si39
 11
 F
 Autism
 ADOS score: 10. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 52; Verbal IQ, 46; Non-verbal IQ, 62.
 22137660
 22263283
  125624
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si4
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
 21985266
 22287942
  302677
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si4
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si40
 16
 M
 Autism
 ADOS score: 7. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 82; Non-verbal IQ, 77.
 22097083
 22266725
  169643
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si41
 10
 F
 Autism
 ADOS score: 10. Vineland composite score: 70.
 Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 83; Non-verbal IQ, 54.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si41
 10
 F
 Autism
 ADOS score: 10. Vineland composite score: 70.
 Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 83; Non-verbal IQ, 54.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si42
 6
 F
 Autism
 ADOS score: 8. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 107; Non-verbal IQ, 111.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si42
 6
 F
 Autism
 ADOS score: 8. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 107; Non-verbal IQ, 111.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  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.
 22097083
 22290846
  193764
 GRCh38
 Duplication
 Yes
  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.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si44
 19
 M
 Autism
 ADOS score: NA. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 93; Non-verbal IQ, 67.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si45
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
 22120193
 22290846
  170654
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si45
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si47
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 56; Non-verbal IQ, 89.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si47
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 56; Non-verbal IQ, 89.
 19147312
 19465053
  317741
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si48
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 57.
 Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
 22097083
 22272088
  175006
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si48
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 57.
 Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si49
 12
 M
 Autism
 ADOS score: 4. Vineland composite score: 73.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 88; Non-verbal IQ, 94.
 22120193
 22272088
  151896
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si50
 13
 M
 Autism
 ADOS score: 10. Vineland composite score: 60.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 78; Non-verbal IQ, 81.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si51
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 95.
 No mental retardation/intellectual disability. Full-scale IQ, 127; Verbal IQ, 113; Non-verbal IQ, 129.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si52
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
 22095282
 22290846
  195565
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si52
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si52
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
 21985266
 22079861
  94596
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si53
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 65.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 40; Non-verbal IQ, 50.
 22097083
 22290846
  193764
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si53
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 65.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 40; Non-verbal IQ, 50.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si53
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 65.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 40; Non-verbal IQ, 50.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si54
 8
 M
 Autism
 ADOS score: NA. Vineland composite score: NA
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 22095282
 22263283
  168002
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si54
 8
 M
 Autism
 ADOS score: NA. Vineland composite score: NA
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si55
 18
 M
 Autism
 ADOS score: 8. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 86; Non-verbal IQ, 92.
 22120193
 22267885
  147693
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si56
 15
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si56
 15
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si57
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 83.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si57
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 83.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si58
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 108; Verbal IQ, 90; Non-verbal IQ, 117.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si58
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 108; Verbal IQ, 90; Non-verbal IQ, 117.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si59
 7
 F
 Autism
 ADOS score: NA. Vineland composite score: NA
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 22137660
 22270558
  132899
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si59
 7
 F
 Autism
 ADOS score: NA. Vineland composite score: NA
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si6
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 79.
 Mild mental retardation/intellectual disability. Full-scale IQ, 70; Verbal IQ, 62; Non-verbal IQ, 79.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si60
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 107; Non-verbal IQ, 125.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si61
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 128; Non-verbal IQ, 106.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si61
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 128; Non-verbal IQ, 106.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si62
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 60.
 Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 15; Non-verbal IQ, 49.
 21985266
 22133581
  148316
 GRCh38
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si63
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 81; Non-verbal IQ, 106.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si63
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 81; Non-verbal IQ, 106.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si64
 10
 F
 Autism
 ADOS score: 6. Vineland composite score: 70.
 Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si64
 10
 F
 Autism
 ADOS score: 6. Vineland composite score: 70.
 Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si64
 10
 F
 Autism
 ADOS score: 6. Vineland composite score: 70.
 Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si65
 11
 M
 Autism
 ADOS score: 7. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si65
 11
 M
 Autism
 ADOS score: 7. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
 22010337
 22095282
  84946
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si66
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
 22137660
 22290846
  153187
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si66
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si67
 7
 M
 Autism
 ADOS score: 6. Vineland composite score: 100.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 123; Non-verbal IQ, 104.
 22133581
 22290846
  157266
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si67
 7
 M
 Autism
 ADOS score: 6. Vineland composite score: 100.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 123; Non-verbal IQ, 104.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si67
 7
 M
 Autism
 ADOS score: 6. Vineland composite score: 100.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 123; Non-verbal IQ, 104.
 21985266
 22079861
  94596
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si68
 16
 M
 Autism
 ADOS score: 6. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
 22057388
 22290846
  233459
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si68
 16
 M
 Autism
 ADOS score: 6. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
 19080050
 19465053
  385003
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si68
 16
 M
 Autism
 ADOS score: 6. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
 21985266
 22046099
  60834
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si69
 6
 M
 Autism
 ADOS score: 5. Vineland composite score: 62.
 No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.
 21985266
 22290846
  305581
 GRCh38
 Duplication
 Yes