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Xq28CNV Type: Deletion-Duplication


Largest CNV size: 542218 bp

Statistics Box:
Number of Reports: 67



Summary Information

Summary statement in development

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in 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.
Deletion-Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Protein interactome reveals converging molecular pathways among autism disorders.
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
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Duplication
A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory ...
Duplication
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
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
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number ga...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Deletion
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Deletion
NA
Duplication
A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication
NA
Duplication
NA
Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
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.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Duplication
NA
Deletion-Duplication
NA
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion-Duplication
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Duplication
NA
Duplication
NA
Deletion
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Duplication
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 addis_15_ASD_replication_cases
 ASD cases from the Autism Genome Project and two Canadian ASD cohorts
 2846
 All cases with a clinical diagnosis of ASD (ADI-R and/or ADOS)
 N/A
 N/A
 3610
 2
 0
 2
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 156000
 1
 0
 1
 bartnik_12_EP_discovery_cases
 102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
 102
 Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
 NA
 NA
 4976000
 0
 2
 2
 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
 519000
 0
 2
 2
 bitar_19_ASD_discovery_cases
  NA NA
 ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
 19
 Cases diagnosed with ASD using DSM-IV criteria and CARS
 N/A
 84.21% Male
 339000
 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
 54450
 1
 0
 1
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 433150
 2
 1
 3
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 360000
 0
 1
 1
 brunet_21_NDD_discovery_cases
 Individuals with neurodevelopmental disorders (NDDs) recruited from August 2017-July 2020 from different centers for human genetics, neuropediatrics and neurology in Germany, Switzerland, Slovakia and Czech Republic.
 231
 Patients presented with neurodevelopmental disorders, including global developmental delay (75.8%), intellectual disability (19.9%), autism behavior/autism (11.3%), and seizures (30.3%).
 Range, 1 mos.-46 yrs. (median 5.3 yrs.)
 49.35% Male
 311956
 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
 23928
 2
 0
 2
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 3816423
 0
 1
 1
 chong_14_DD/ID/ASD/MCA_discovery_cases
 Patients referred to clinical genetics service and recruited for CMA application study
 105
 Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
 N/A
 N/A
 1330000
 0
 1
 1
 cukier_12_ASD_discovery_cases
 ASD probands recruited from clinical and educational settings throughout the United States and ascertained at the John P. Hussman Institute for Human Genetics (HIHG) at the University of Miami, the University of South Carolina (Columbia, SC), and the Center for Human Genetics Research at Vanderbilt University (Nashville, TN).
 287
 Diagnosis of ASD based on DSM-IV criteria and supported by ADI-R. Additional inclusion criteria: IQ>35 or developmental level >18 months (as determined by VABS). Exclusion criteria: severe sensory problems, significant motor impairments, or identified metabolic, genetic, or progressive neurological disorders.
 Range, 3-21 yrs.
 83.3% Male
 294000
 0
 2
 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
 1276967
 0
 1
 1
 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
 439638
 0
 1
 1
 du_21_ASD/DD/ID/EP_discovery_cases
 Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
 511
 Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
 Range, 3 mos.-35 yrs. (median age, 3 yrs.)
 73.6% Male
 899232
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 542217
 3
 28
 31
 firouzabadi_16_ASD_discovery_cases
 Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
 15
 ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
 N/A
 N/A
 92000
 1
 0
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 1156588
 0
 1
 1
 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
 222000
 1
 0
 1
 gardner_21_DD_discovery_cases
 Individual with a de novo 22kb Xq28 deletion affecting the MECP2 gene from the DECIPHER database (DECIPHER ID 279220)
 1
 Case presented with developmental delay (DD).
 NA
 Female
 22118
 1
 0
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 40322
 1
 2
 3
 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
 310000
 0
 1
 1
 hanchard_12_ASD_discovery_cases
 Affected female consultand from a pedigree with ASDs, epilepsy, and cognitive processing problems
 1
 Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Additional diagnoses of ADHD and epilepsy.
 6 yrs.
 Female
 115000
 0
 1
 1
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 358000
 1
 1
 2
 hu_18_ASD/ADHD_discovery_cases
  NA NA
 Chinese male presenting with a maternally-inherited Xq28 duplication
 1
 Case fulfilled the diagnostic criteria for ASD (based on ADOS-M3 and ADI-R assessment) and ADHD (based on SNAP-IV assessment)
 9 years 8 months
 Male
 260000
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 517227
 7
 1
 8
 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
 3970000
 1
 1
 2
 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
 6166014
 26
 42
 68
 kim_18_DD/ID_discovery_cases
  NA NA
 Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
 50
 All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
 Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
 52.0% Male
 5000000
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 282191
 0
 9
 9
 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
 24496
 2
 0
 2
 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
 242855
 0
 4
 4
 lengyel_20_ASD/DD/ID_discovery_cases
  NA NA
 Children referred to genetic counseling with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms
 73
 Cases presented with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms, including autism spectrum disorder
 N/A
 N/A
 110790
 2
 0
 2
 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
 29000
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 203218
 0
 1
 1
 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
 464646
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 147103
 0
 1
 1
 li_17_ASD/ID/EP_discovery_cases
 Four affected family members from a multi-generational Chinese pedigree with familial MECP2 duplication syndrome
 4
 All four cases present with ASD and intellectual disability; 3/4 also present with epilepsy/seizures
 Range, 2 yrs. 6 mos.-25 yrs.
 Male
 550000
 0
 4
 4
 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
 1180000
 1
 8
 9
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 505449
 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
 470640
 1
 1
 2
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 35652
 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
 87000
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 542218
 4
 3
 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
 363875
 0
 4
 4
 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
 556274
 4
 4
 8
 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
 
 
 546102
 1
 2
 3
 sahoo_11_DD_discovery_cases
 Patients referred for microarray testing to Signature Genomic Laboratories for physical and/or intellectual disability and/or dysmorphic features
 2
 Developmental delay (DD)
 Range, 3 yrs. 7 mos.-4 yrs. 2 mos.
 100% Male
 499300
 2
 0
 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
 461799
 0
 6
 6
 sakai_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). Probands with CNVs were also identified in Levy et al. 2011 CNV report.
 288
 High-functioning probands (average IQ, 80.94) diagnosed with idiopathic ASD and with no signs of syndromic disorders on physcial examination or brain imaging.
 
 
 200000
 0
 1
 1
 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
 301650
 27
 51
 78
 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
 442000
 1
 1
 2
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 133000
 0
 1
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 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
 11032
 0
 1
 1
 stettner_11_ID/ASD_discovery_cases
 Second & third children of healthy, non-consanguineous parents
 2
 Mild intellectual disability, severe behavioral problems, and autistic features. No formal diagnosis of autism/ASD.
 Range, 10 yrs. 4 mos.-11 yrs. 7 mos.
 100% Male
 145000
 2
 0
 2
 tropeano_16_ASD/NDD_replication_cases
 Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
 18857
 Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
 N/A
 BBGRE cohort, 67% Male; Hospit
 3266066
 0
 1
 1
 tropeano_16_ASD_discovery_cases
 ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
 90
 Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
 Adult age (20 yrs.+)
 N/A
 500378
 0
 1
 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)
 
 5030000
 0
 1
 1
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 94404
 1
 0
 1
 vanmarsenille_13_ID/SCZ_discovery_cases
 Four male patients with non-syndromic X-linked intellectual disability: two affected brothers from Family T61; one ID patient from a cohort of 2222 sporadic male patients with ID referred for diagnosis in Leuven (Belgium); and one ID patient from a cohort of 750 ID patients from Tartu (Estonia).
 4
 All four cases presented with mild to moderate intellectual disability (ID) and behavioral problems; one case with an additional DSM-IV diagnosis of schizophrenia (SCZ)
 Range, 3-29 yrs.
 Male
 500000
 0
 5
 5
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 293575
 1
 0
 1
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 1300000
 1
 3
 4
 xu_12_ASD_discovery_cases
 Affected male, who was identified as part of a screen for MECP2 CNVs consisting of 53 unrelated male subjects diagnosed with ASD using DSM-IV, and his brother.
 2
 Diagnosis of ASD/autistic disorder based on meeting ADOS criteria and DSM-IV.
 Range, 9 yrs. 5 mos.-18 yrs.
 Male
 2220000
 0
 2
 2
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 1089000
 0
 1
 1
 yon_17_ASD/ID/EP_discovery_cases
 A sibship of affected brothers with a Xq28 duplication inherited from their less severely affected mother
 2
 Both cases were diagnosed with autistic spectrum disorder (ASD) in accordance with DSM-V. Diagnosis of severe intellectual disability for both cases was based on the mental developmental index of the Bayley Scales of Infant Development test II (BSID II). Both cases also present with generalized hypotonia, recurrent infections, epilepsy, choreiform movements, and moderate increased spasticity of the lower limbs.
 Range, 10-11 yrs.
 Male
 411000
 0
 2
 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
 496999
 1
 2
 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
 286163
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 addis_15_ASD_replication_controls
 Controls from the Ottawa Heart Institute (n=1234), POPGEN (N=1123), the Ontario Population Genomics Platform (n=416), HapMap3 (n=1056), and the Autism Genome Poject (n=2640)
 6469
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 4677
 1
 0
 1
 cukier_12_ASD_discovery_controls
 Healthy children recruited as controls
 288
 Healthy children. Exclusion criteria: presence of developmental, behavioral, or neurological conditions, or first degree relatives with such disorders.
 Range, 4-21 yrs.
 59.7% Male
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 694106
 3
 32
 35
 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.
 
 
 212595
 0
 2
 2
 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
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 282191
 1
 7
 8
 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
 40506
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 94735
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 556274
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 484177
 30
 25
 55
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 133000
 0
 1
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 addis_15_ASD_replication_cases
  Europe and Canada
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 PennCNV, iPattern, QuantiSNP, Birdsuite, iPattern, Affymetrix Genotyping Console
 
 qPCR, another method
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 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
 bitar_19_ASD_discovery_cases
  Lebanon
 aCGH
  Agilent SurePrint G3 2x400K
 ADM-2
 Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
 qPCR
 brandler_16_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq
 ForestSV
 gtCNV
 Solid phase hybridization (Illumina 2.5M)
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 brunet_21_NDD_discovery_cases
  European
 WES
  Illumina NovaSeq6000, Illumina HiSeq4000
 
 ExomeDepth, Pindel
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K)
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 cukier_12_ASD_discovery_cases
  202 European, 85 African
 Array SNP, qPCR
  qPCR [two Taqman copy number assays within each of five genes (MBD5, MBD6, SETDB1, SETDB2, and MECP2) selected from predesigned assays from Applied Biosystems], Illumina Human 1M Beadchip
 PennCNV
 CopyCaller Software 1.0
 Array SNP
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 du_21_ASD/DD/ID/EP_discovery_cases
  United States
 Solid phase hybridization
  Illumina CytoSNP-850Kv1.2 BeadChip
 NA
 Illumina Genome Studio V2009.2
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 firouzabadi_16_ASD_discovery_cases
  Iranian
 aCGH
  BlueGnome CytoChip ISCA 8x60K v2.0
 
 BlueFuse Multi v3
 qPCR
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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
 None
 gardner_21_DD_discovery_cases
  NA
 NA
  NA
 NA
 NA
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 guo_19_DD/ID_discovery_cases
  China
 NGS
  Illumina HiSeq 2500
 m-HMM
 FASTQ v.0.18.1
 None
 hanchard_12_ASD_discovery_cases
  Caucasian
 aCGH
  Custom Agilent 4X44K microarray
 
 
 FISH, MLPA
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 None
 hu_18_ASD/ADHD_discovery_cases
  Chinese
 aCGH
  Agilent SurePrint G3 Human CGH 4x180K
 
 
 qPCR
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 PCR, qPCR
 jiao_19_EP/DD/ID_discovery_cases
  China
 WGS
  Low-coverage whole genome sequencing
 
 Illumina BclToFastq
 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
 kim_18_DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 lengyel_20_ASD/DD/ID_discovery_cases
  Hungarian
 aCGH
  NimbleGen Array CGX 1.4M, Agilent 60K, Agilent 180K
 
 NimbleGen MS 200 Microarray Scanner, Agilent Genomic Workbench v.7.0, Agilent Genomic Workbench Lite
 None
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 li_17_ASD/ID/EP_discovery_cases
  Chinese
 aCGH, MLPA
  Agilent 4x180K
 
 
 FISH
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 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
 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
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sahoo_11_DD_discovery_cases
  NA
 aCGH
  SignatureChipOS v1.0 105K array, SignatureChipOS v2.0 135K array
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sakai_11_ASD_discovery_cases
 
 aCGH
  Agilent 4x44K
 
 
 aCGH (CMA BAC V8.1, Baylor MGL)
 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
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 stettner_11_ID/ASD_discovery_cases
  German/European
 aCGH, MLPA
  Agilent 244K
 
 
 None
 tropeano_16_ASD/NDD_replication_cases
  United Kingdom and Canada
 aCGH
  Agilent 60K, OGT Cytosure 4x180K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
 None
 tropeano_16_ASD_discovery_cases
  United Kingdom
 aCGH
  Agilent 60K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench
 MLPA, aCGH
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 None
 vanmarsenille_13_ID/SCZ_discovery_cases
  2 Caucasian, 1 Belgian, 1 Estonian
 aCGH, solid phase hybridization, qPCR
  BACs aCGH, Illumina HumanCNV370
 
 
 qPCR
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None
 xu_12_ASD_discovery_cases
  Chinese Han
 Multiplex competitive amplication
  Custom-designed Multiplex Accucopy kit
 
 
 qPCR, aCGH
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None
 yon_17_ASD/ID/EP_discovery_cases
  Korea
 MLPA
  SALSA MLPA P245 Microdeletion Syndromes-1, ABI Prism 3130XL
 
 GeneMaker v1.95
 Array SNP (Affymetrix CytoScan HD)
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
 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
  addis_15_ASD_replication_controls
  Primarily European and Canadian
  Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M
  PennCNV, iPattern, QuantiSNP, Birdsuite, iPattern, Affymetrix Genotyping Console
 
 
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  cukier_12_ASD_discovery_controls
  198 European, 90 African
  qPCR
  qPCR: two Taqman copy number assays within each of five genes (MBD5, MBD6, SETDB1, SETDB2, and MECP2) selected from predesigned assays from Applied Biosystems; all samples tested in quadruplicate.
 
  CopyCaller Software 1.0
 
  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
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  addis_15_ASD_replication_cases-caseMM1259-003
 N/A
 F
 ASD
 Autism, langauge delay; delayed first words (at 21 months), mild developmental delay, motor delay, no seizures
 
 155542680
 155546290
  3611
 GRCh38
 Deletion
 Yes
  addis_15_ASD_replication_cases-caseMM1259-004
 N/A
 F
 ASD
 Autism, language delay; delayed first words (at 18 months), delayed first phrases (at 36 months), expressive language problems, mild developmental delay, motor delay, no seizures
 
 155542680
 155546290
  3611
 GRCh38
 Deletion
 Yes
  asadollahi_14_NDD_discovery_cases-case56761
 5 yrs.
 M
 Developmental delay
 Global developmental delay, prominent speech delay, cryptorchidism
 
 155804020
 155960392
  156373
 GRCh38
 Deletion
 Yes
  bartnik_12_EP_discovery_cases-case8
 NA
 M
 Epilepsy and developmental delay
 Age of onset of epilepsy: 1 month. Seizure types/epilepsy syndrome: West syndrome evolving into epilepsy with focal seizures with hypsarrythmia in EEG. Dysmorphic. Parental phenotype: normal.
 Profound developmental delay.
 149351373
 149634864
  283492
 GRCh38
 Duplication
 No
  bartnik_12_EP_discovery_cases-case8
 NA
 M
 Epilepsy and developmental delay
 Age of onset of epilepsy: 1 month. Seizure types/epilepsy syndrome: West syndrome evolving into epilepsy with focal seizures with hypsarrythmia in EEG. Dysmorphic. Parental phenotype: normal.
 Profound developmental delay.
 150638744
 155650820
  5012077
 GRCh38
 Duplication
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case75
 4 yrs. 4 mos.
 F
 Borderline DD/ID
 Autism: no. Epilepsy: no. Dysmorphic features: yes. Karyotype: Robertsonian 13;14 translocation at amniocentesis.
 Borderline DD/ID
 149022491
 149541899
  519409
 GRCh38
 Duplication
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case77
 11 yrs. 4 mos.
 F
 Developmental delay/intellectual disability and epilepsy
 Autism: no. Epilepsy: yes. Dysmorphic features: yes.
 Moderate DD/ID
 154344193
 154475638
  131446
 GRCh38
 Duplication
 Yes
  bitar_19_ASD_discovery_cases-case91
  NA NA
 N/A
 M
 ASD and epilepsy
 Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: fear, anxiety, self-injurious behavior. Epilepsy/seizures: epilepsy. Additional medical history: deafness. Family history: born to consanguineous parents (first degree cousins); history of diabetes on both sides of the family, as well as hypertension, high cholesterol, and cardiac disease on the paternal side of the family.
 
 149232720
 149572490
  339771
 GRCh38
 Duplication
 Yes
  brandler_16_ASD_discovery_cases_caseREACH000145
 N/A
 M
 ASD
 Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
 
 149600637
 149655082
  54446
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseREACH000145
 N/A
 M
 ASD
 Case from REACH cohort
 
 149573217
 149662381
  89165
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseREACH000704
 N/A
 F
 Anxiety, ADHD, and dyslexia
 Case from REACH cohort
 
 154887176
 155319288
  432113
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_discovery_cases-caseSSC05124
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 154456630
 154461314
  4685
 GRCh38
 Deletion
 Yes
  bremer_11_ASD_discovery_cases-case12
 4
 M
 ASD
 Non-syndromic ASD, sporadic case
 MR (IQ<70)
 153875028
 154240203
  365176
 GRCh38
 Duplication
 Yes
  brunet_21_NDD_discovery_cases-case115
 13.3 yrs.
 M
 Developmental delay and epilepsy/seizures
 Developmental milestones: global developmental delay (HP:0001263). Epilepsy/seizures: seizures (HP:0001250). Brain imaging: cerebral atrophy (HP:0002059). Additional medical history: recurrent respiratory infections (HP:0002205), Dysmorphic features: square face (HP:0000321), strabismus (HP:0000486), wide nasal bridge (HP:0000431) enlarged naris (HP:0009931), high palate (HP:0000218), abnormal facial shape (HP:0001999). Growth parameters: tall stature (HP:0000098), macrocephaly (HP:0000256).
 
 153918831
 154230786
  311956
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11000
 NA
 M
 ASD
 NA
 NA
 155541079
 155554913
  13835
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11443
 NA
 M
 ASD
 NA
 NA
 154629061
 154652962
  23902
 GRCh38
 Deletion
 Yes
  chaves_19_ASD/DD/ID_discovery_cases-case151
  NA NA
 N/A
 M
 Developmental delay
 Short stature, facial dysmorphism, intrauterine growth retardation, and developmental delay
 
 152187644
 156004066
  3816423
 GRCh38
 Duplication
 No
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1293
 N/A
 F
 Developmental delay
 Mild developmental delay, dysmorphic features, multiple congenital anomalies (MCA), hypotonia. Family history: none reported.
 Mild developmental delay
 152789896
 153967167
  1177272
 GRCh38
 Duplication
 Yes
  cukier_12_ASD_discovery_cases-case39283-0001
 NA
 M
 Autism
 Developmental milestones: significant motor delays. Language and communication evaluation: nonverbal. Motor evaluation: significant motor delays. Epilepsy/seizures: non-febrile generalized seizures. Other features: history of allergies. Family history: brother who did not meet criteria for autism but presented with global developmental delay, intellectual disability, and allergies (brother also carries MECP2 duplication); mother with three miscarriages; maternal history positive for infertility in three siblings and cystic fibrosis in two female siblings.
 Mental retardation
 153723110
 153977113
  254004
 GRCh38
 Duplication
 No
  cukier_12_ASD_discovery_cases-case39283-0001
 NA
 M
 Autism
 Developmental milestones: significant motor delays. Language and communication evaluation: nonverbal. Motor evaluation: significant motor delays. Epilepsy/seizures: non-febrile generalized seizures. Other features: history of allergies. Family history: brother who did not meet criteria for autism but presented with global developmental delay, intellectual disability, and allergies (brother also carries MECP2 duplication); mother with three miscarriages; maternal history positive for infertility in three siblings and cystic fibrosis in two female siblings.
 Mental retardation
 154013042
 154104159
  91118
 GRCh38
 Duplication
 Yes
  davis_09_ASD_discovery_cases-AU019705
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 153076233
 154353200
  1276967
 Unknown
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299916
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 154892463
 155331063
  438601
 GRCh38
 Duplication
 Yes
  du_21_ASD/DD/ID_discovery_cases-case198
 12 yrs.
 M
 ASD and epilepsy
 Macrocephaly, epilepsy, autism
 
 153396763
 154295994
  899232
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14022_460
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 153074812
 153251490
  176679
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14216_3470
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 154381603
 154592944
  211342
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16036_1571014001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149675472
 149899942
  224471
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16048_1571101001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149604380
 149654460
  50081
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16067_1571134001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149653630
 149781364
  127735
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16067_1571134001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149916980
 150341430
  424451
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16090_1571122001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149617109
 149740928
  123820
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20013_1075001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 154357486
 154640328
  282843
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case20081_1370001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 153091961
 153251490
  159530
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20128_4016001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149613262
 149675472
  62211
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20162_1653001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149797915
 149916980
  119066
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2055_2
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3491_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 153059876
 153251490
  191615
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4166_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 152701267
 152886187
  184921
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4349_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4350_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4354_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149454601
 149818465
  363865
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4531_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4548_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5036_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149186160
 149728078
  541919
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5286_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149604380
 149654460
  50081
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5352_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 152892328
 153123667
  231340
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5432_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 153074812
 153251490
  176679
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6010_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6109_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149797915
 149902009
  104095
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6175_6
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 155559522
 155632326
  72805
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6367_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8437_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149797915
 149916980
  119066
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8454_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 151794478
 151843728
  49251
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8605_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 149541156
 149830897
  289742
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8723_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 154153043
 154302066
  149024
 GRCh38
 Duplication
 No
  firouzabadi_16_ASD_discovery_cases-patient2
 9 yrs
 F
 ASD
 Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Additional medical history: hearing loss, failure to thrive. Growth parameters: microcephaly (head circumference <-3 SD).
 Severe intellectual disability
 153630433
 153722529
  92097
 GRCh38
 Deletion
 Yes
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263985
 N/A
 M
 Dysmorphic features
 Drooling; Unsteady gait; Abnormal facial shape; Lactose intolerance
 
 154337491
 155492768
  1155278
 GRCh38
 Duplication
 No
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR198
 19 yrs.
 M
 ASD, intellectual disability and epilepsy
 Clinical features: severe intellectual disability, ASD, mild right hemiparesis. Age of seizure onset: 7 months. Epilepsy syndrome: Lennox-Gastaut syndrome. Seizure types: focal epilepsy, infantile spasms, absence seizures, non-convulsive status epilepticus, generalized tonic-clonic seizures, atonic seizures, focal dyscognitive seizures.
 Severe intellectual disability
 151421458
 151643449
  221992
 GRCh38
 Deletion
 No
  gardner_21_DD_discovery_cases-caseDECIPHER279220
 NA
 F
 Developmental delay
 Case deposited in DECIPHER (DECIPHER ID 279220). Developmental milestones: delayed speech and language development, global developmental delay. Motor and musculoskeletal evaluation: muscular hypotonia. Additional medical history: hemangioma, conductive hearing impairment. Dysmorphic features: mandibular prognathia, thick lower lip vermillion, thick upper lip vermillion.
 
 154024848
 154046965
  22118
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case493-3
 N/A
 F
 ASD
 ASD; no other clinical information provided
 N/A
 154594625
 154615204
  20580
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case511-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 148407709
 148448032
  40324
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case519-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 154143456
 154173293
  29838
 GRCh38
 Duplication
 No
  guo_19_DD/ID_discovery_cases-case21
 18 mos.
 M
 Intellectual disability
 Motor deterioration, intellectual disability, loss of speech, abnormality of the voice, weak cry, abnormality of the musculature, appendicular hypotonia, hypotonia
 Intellectual disability
 153966649
 154313750
  347102
 GRCh38
 Duplication
 No
  hanchard_12_ASD_discovery_cases-case1
 6 yrs.
 F
 PDD-NOS
 Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Developmental milestones: presented at 3 years 10 months after mild delays in fine and gross motor development, with loss of speech and significant behavioral problems including ADHD and aggression. Also had hyperacusis, sensitivity to textures, and poor eye contact. Language and communication evaluation: limited vocabulary with difficulties in speech articulation at 6 years of age. Epilepsy/seizures: developed focal onset seizures and was diagnosed with epilepsy; at 6 years, seizures were medically refractory. Dysmorphic features: smooth philtrum, double ear crus, over-folded helix, bilateral 5th finger clinodactyly, talus rotation. Growth parameters: proportionally large for age (height, 75th-90th %ile; weight, 97th %ile; head circumference, 98th %ile). Family history: father (carries Xq28 duplication) with speech and cognition problems in childhood and epilepsy; mother had problems with cognitive processing and executive functioning; brother with sleep disturbances, ADHD, and ASD; maternal half-brother with sleep problems and ADHD (mother, brother, and maternal half-brother all carry 4q35.2 duplication).
 Problems with cognitive processing
 NA
 NA
  194000
 NCBI36
 Duplication
 Yes
  hnoonual_17_ASD_discovery_cases-caseRA32
 N/A
 M
 ASD and intellectual disability
 No additional clinical features
 Intellectual disability
 149005414
 149210161
  204748
 GRCh38
 Deletion
 No
  hnoonual_17_ASD_discovery_cases-caseRA6
 N/A
 M
 ASD and intellectual disability
 No additional clinical features
 Intellectual disability
 155506037
 155864471
  358435
 GRCh38
 Duplication
 No
  hu_18_ASD/ADHD_discovery_cases-case1
  NA NA
 9 yrs. 8 mos.
 M
 ASD and ADHD
 Case fulfilled the diagnostic criteria for ASD (based on ADOS-M3 and ADI-R assessment; scores for both were above the cutoff) and ADHD (based on SNAP-IV assessment). Birth/neonatal history: born full-term after a normal pregnancy by caesarean section; birth weight of 2800 g; hospitalized twice during neonatal period (once for pathological jaundice at 2 months, again for hernia at 8 months). Developmental milestones: walking unsupported at 15 months. Language and communication evaluation: poor language comprehension and difficulty in maintaining normal conservation with normal eye contact; weak in language comprehension at 9 years 8 months. Motor and musculoskeletal evaluation: poor motor coordination and slight hypotonia at 15 months. Behavioral/psychiatric evaluation: repetitive patterns of behavior, deficits in social reciprocity, impulsivity, attention deficit. Additional medical history: asthma at age of 3-4 years, which improved with continued allergic rhinitis; abnormal serum free fatty acid levels (875 and 1165 umol/L at 9 and 10 years, respectively; normal levels are 172-588 umol/L in age-matched healthy children). Dysmorphic features: depressed nasal bridge, thick and drooping upper eyelids. Family history: mother who also carried the Xq28 duplication exhibited a quick temper and irritability, may have suffered from postpartum depression, and exhibited some of the ASD phenotype (score for Broader Autism Phenotype Questionnaire was high-normal); father had moderate temperament and was otherwise normal; maternal grandparents were cousins; both families declared no significant health or psychological issues.
 Verbal IQ 96, performance IQ 90, and full scale IQ 92 on Wechsler Intelligence Scale for Children (WISC); normal cognition with high score for calculation but a low score for comprehension.
 152700431
 152960756
  260326
 GRCh38
 Duplication
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case23
 4 yrs.
 M
 Developmental delay/intellectual disability
 Facial dysmorphisms, high-arched palate, congenital dislocation of the hip. Karyotype: 1phqh.
 Developmental delay/intellectual disability
 153864545
 154418888
  554344
 GRCh38
 Duplication
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case32
 9 yrs. 10 mos.
 F
 Autism and intellectual disability
 Autism, multiple hematomas, teeth anomalies. Karyotype: 1phqh, 9phqh.
 Intellectual disability
 153880345
 154035970
  155626
 GRCh38
 Deletion
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case35
 11 yrs.
 F
 Autism and epilepsy
 Autism, speech delay, seizures, facial dysmorphisms
 Cognitive delay
 153880345
 154035970
  155626
 GRCh38
 Deletion
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case48
 4 yrs.
 M
 Autism and intellectual disability
 Autism. Karyotype: 9phqh.
 Intellectual disability
 155258627
 155428262
  169636
 GRCh38
 Deletion
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case49
 4 yrs. 10 mos.
 F
 Developmental delay/intellectual disability
 Facial dysmorphisms, clinodactyly, dentinogenesis imperfecta, enteroparesis. Karyotype: 9phqh, 17ps.
 Developmental delay/intellectual disability
 153843228
 154036066
  192839
 GRCh38
 Deletion
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case50
 4 yrs.
 F
 Developmental delay/intellectual disability and autism
 Autism, Rett syndrome-like phenotype
 Developmental delay/intellectual disability
 154169630
 154648041
  478412
 GRCh38
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case51
 1 yr. 10 mos.
 F
 Developmental delay
 Speech delay, facial dysmorphisms.
 Developmental delay
 153466473
 153672116
  205644
 GRCh38
 Deletion
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case51
 1 yr. 10 mos.
 F
 Developmental delay
 Speech delay, facial dysmorphisms.
 Developmental delay
 154169630
 154381014
  211385
 GRCh38
 Deletion
 Yes
  jiao_19_EP/DD/ID_discovery_cases-case63576
 3 yrs. 6 mos.
 Male
 DD and ID
 Developmental milestones: global developmental delay, delayed speech and language development. Motor and musculoskeletal evaluation: motor deterioration, facial paralysis.
 Intellectual disability
 153966649
 154343732
  377084
 GRCh38
 Duplication
 No
  jiao_19_EP/DD/ID_discovery_cases-caseDD18009846
 2 yrs. 3 mos.
 Female
 DD and epilepsy/seizures
 Developmental milestones: global developmental delay. Epilepsy/seizures: seizures (febrile seizures).
 
 152018591
 155922436
  3903846
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149989929
 156022206
  6032278
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155717169
 155912362
  195194
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000852
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153929344
 154367160
  437817
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000911
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155980375
 156010307
  29933
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000913
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149849581
 156022206
  6172626
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000933
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 150036146
 156022206
  5986061
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001028
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154791149
 154931411
  140263
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001032
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155678751
 155951918
  273168
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 156001591
 156022206
  20616
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155980375
 156013167
  32793
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155980375
 156013167
  32793
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001152
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155998122
 156022206
  24085
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001154
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155998122
 156013167
  15046
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155998122
 156013167
  15046
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001167
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155782123
 155967288
  185166
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155980375
 156022206
  41832
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155980375
 156022206
  41832
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001180
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155998122
 156022206
  24085
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 156001591
 156022206
  20616
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001231
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155998122
 156022206
  24085
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001243
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155998122
 156022206
  24085
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155998122
 156022206
  24085
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001689
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154394598
 154554969
  160372
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001693
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154984506
 155098444
  113939
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001726
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154336596
 154642063
  305468
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001745
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153769547
 154394658
  625112
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001766
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153590730
 154380801
  790072
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001800
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153769547
 154394658
  625112
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001862
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 151462349
 156028048
  4565700
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001867
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154394598
 154626056
  231459
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001868
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154984506
 155098444
  113939
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001869
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154984506
 155098444
  113939
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001912
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153787044
 154397779
  610736
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001924
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 150449408
 150750615
  301208
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001974
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153777340
 154397779
  620440
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001978
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154791149
 155996431
  1205283
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002028
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155745005
 155996431
  251427
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002092
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153504314
 154144797
  640484
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002187
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155007151
 155491717
  484567
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002386
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155828359
 155979369
  151011
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002606
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 152795555
 152912145
  116591
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002685
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149493233
 149500929
  7697
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002693
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153667032
 153817949
  150918
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002777
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153395425
 155687381
  2291957
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002790
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154897608
 155335682
  438075
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002799
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149352525
 149532248
  179724
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003986
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153932045
 155611794
  1679750
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004018
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153296806
 155699618
  2402813
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004046
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149722144
 150242706
  520563
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004130
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155123270
 156022362
  899093
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004283
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 152728537
 153047281
  318745
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004341
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153975736
 156022206
  2046471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004382
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 152728537
 153047281
  318745
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004408
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155717169
 156022206
  305038
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004417
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154348522
 154594454
  245933
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004469
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149429424
 149617725
  188302
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004558
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155678751
 155951918
  273168
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004572
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154022066
 154092314
  70249
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004604
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 154931352
 155331063
  399712
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004833
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 152426479
 156022206
  3595728
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004852
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149570094
 150326225
  756132
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004860
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153714542
 154380803
  666262
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004949
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 152932818
 156022206
  3089389
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005022
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 152728537
 153047281
  318745
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005057
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153722500
 154367160
  644661
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005159
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 149722144
 150079450
  357307
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005231
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153585420
 154427385
  841966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005404
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 153047222
 156022206
  2974985
 GRCh38
 Duplication
 Yes
  kim_18_DD/ID_discovery_cases-case3
  NA NA
 8 mos.
 M
 Developmental delay
 Dysmorphic features, macrodactyly, hypotonia, intestinal pseudobstruction, chylothorax
 Severe developmental delay
 150818763
 156003433
  5184671
 GRCh38
 Duplication
 No
  kim_18_DD/ID_discovery_cases-case4
  NA NA
 12 yrs. 10 mos.
 M
 Developmental delay/intellectual disability and epilepsy
 Absent speech, dysmorphic features, epilepsy
 Severe developmental delay/intellectual disability
 153651334
 154156363
  505030
 GRCh38
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11193.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 149603986
 149611463
  7478
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11569.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 154783416
 155054685
  271270
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11704.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 153150559
 153273226
  122668
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11733.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 153150559
 153273226
  122668
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12798.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151716119
 151744498
  28380
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13322.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 149482745
 149764806
  282062
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13405.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 155071527
 155216575
  145049
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13511.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 153336679
 153465055
  128377
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13762.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 149603986
 149611463
  7478
 GRCh38
 Duplication
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ0186
 62 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include auditory hallucinations, delusions, negative symptoms, cognitive decline). Physical comorbidities: pneumonia, paralytic ileus. Family history: negative.
 IQ > 70
 155531678
 155556173
  24496
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ2140
 74 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 155530103
 155550495
  20393
 GRCh38
 Deletion
 N/A
  lee_17_ASD/DD/ID/MCA_discovery_cases-case10
 16 yrs.
 M
 Developmental delay and multiple congenital anomalies
 Developmental delay, multiple congenital anomalies
 
 153662075
 153737423
  75349
 GRCh38
 Duplication
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case17
 7 yrs.
 M
 Intellectual disability
 Multiple neuromuscular problems
 Intellectual disability
 153901808
 153923659
  21852
 GRCh38
 Duplication
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case27
 10 yrs.
 F
 Developmental delay and epilepsy
 Developmental delay, epilepsy
 
 153500141
 153743000
  242860
 GRCh38
 Duplication
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case40
 6 yrs.
 M
 Intellectual disability
 
 Intellectual disability
 153662075
 153727870
  65796
 GRCh38
 Duplication
 No
  lengyel_20_ASD/DD/ID_discovery_cases-case10
  NA NA
 N/A
 M
 ASD and ADHD
 Case reported in DECIPHER database (DECIPHER ID 411577). Birth/neonatal history: born at term (40 weeks) with birth weight of 4500 grams and length of 56 cm; Apgar scores 9/10; clavicle fractures during delivery. Developmental milestones: motor delay. Language and communication evaluation: speech articulation difficulties. Motor and musculoskeletal evaluation: scoliosis; joint hypermobility; 2-3 toe syndactyly; clinodactyly of the fifth fingers. Behavioral/psychiatric evaluation: diagnoses of ASD and ADHD; impaired ability to form peer relationships, abnormal temper tantrums. Brain imaging: normal brain MRI. EEG: frontotemporal epileptic lesions. Hearing evaluation: sensorineural hearing impairment. Additional medical history: anal stensois, tracheal stenosis. Family history: mother and three brothers are dyslexic (one brother also has unilateral hearing impairment and unilateral renal hypoplasia).
 
 154144291
 154255080
  110790
 GRCh38
 Deletion
 No
  lengyel_20_ASD/DD/ID_discovery_cases-case3
  NA NA
 3 yrs.
 M
 Developmental delay and intellectual disability
 Case reported in DECIPHER database (DECIPHER ID 411594). Birth/neonatal history; born at 40 weeks gestation; oligohydramnios; birth weight 2860 grams, birth length 54 cm; Apgar scores 8/10; high-pitched cry; feeding difficulties due to severe muscular hypotonia. Developmental milestones: delayed speech and language development (expressive > receptive). Motor and musculoskeletal evaluation: polydactyly; gait imbalance; joint hypermobility; genu valgum; pes planus; single transverse palmar crease. Behavioral/psychiatric evaluation: impaired ability to form peer relationships. Additional medical history: mild conductive hearing loss. Dysmorphic features: blepharophimosis, small and low-set ears with abnormal morphology, single transverse palmar crease.
 Intellectual disability
 154144291
 154255080
  110790
 GRCh38
 Deletion
 No
  lesca_12_EP_discovery_cases-case10-114
 NA
 M
 Epilepsy + autistic features
 Phenotype: s-CSWSS. Seizure Characteristics: GTCS when falling asleep. Autistic features: Yes (severe). ADHD features: Yes. Other features: None.
 Initial cognitive development: Delayed. Cognitive regression: No.
 155168716
 155197407
  28692
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11092.p1
 NA
 M
 ASD
 NA
 NA
 154348322
 154551692
  203371
 GRCh38
 Duplication
 No
  lintas_17_ASD_discovery_cases-case1.3
 8 yrs.
 M
 Autism
 Low-functioning ASD, non-verbal
 
 153436760
 153901410
  464651
 GRCh38
 Duplication
 Yes
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
 N/A
 M
 Non-NDD
 Karyotyping: 46,XY,t(5;11)(p12;p15.4).arr Xq28(153,473,411-153,620,513)x3-UCS, 9q33.1(118,814,591-118,867,559)x3-UCS-LB.
 
 154591954
 154739044
  147091
 GRCh38
 Duplication
 No
  li_17_ASD/ID/EP_discovery_cases-caseIII:16
 11 yrs. 2 mos.
 M
 ASD, intellectual disability, and epilepsy
 Case was diagnosed with ASD based on DSM-5 criteria. Birth/neonatal history: polyhydramios; birth weight of 3900 g (> 90th %ile). Developmental milestones: developmental delay noted at 5 months; raised head at 8 months, walked independently at 2 years, said "Mama" or "Papa" at 3 years; developmental regression noticed after first seizure attack at age of 2 years. Lanaguge and communication evaluation: speech delay; unable to speak any comprehensible phrase at 11 years of age. Motor and musculoskeletal evaluation: unable to run steadily at 11 years of age; central hypotonia. Behavioral/psychiatric evaluation: no eye contact; delayed development in peer relationships; lack of social/emotional reciprocity; stereotyped movements (hand flapping, looking at his hands, biting his fingers). Epilepsy/seizures: seizure onset at 2 years; seizure types include generalized tonic-clonic seizures. Brain imaging: corpus callosum dysplasia on brain MRI. Additional medical history: feeding difficulties; recurrent respiratory infections; refractory constipation with bowel movement. Dysmorphic features: midface hypoplasia, long face, downslanting palpebral fissures, epicanthus, small mouth, jaw protrusion, low-set ears, large ear lobes and creases. Family history: born to healthy non-consanguineous parents; similarly affected older brother (III:16) who died of a central nervous system infection at 16 years of age (DNA sample not available for testing); three other male family members (III:6, IV:1, and IV:2) with MECP2 duplication that were diagnosed with ASD and presented with similar clinical phenotypes; female family member (IV:4) that presented with developmental delay, hypotonia, recurrent respiratory infections, absence of eye contact, and generalized tonic-clonic seizures prior to death from severe pnuemonia and myocarditis at 2 years (DNA sample not available for testing).
 Intellectual disability
 153790599
 154377968
  587370
 GRCh38
 Duplication
 Yes
  li_17_ASD/ID/EP_discovery_cases-caseIII:6
 25 yrs.
 M
 ASD, intellectual disability
 Delayed developmental milestones (sitting at over 2 years at age, walking at over 2 years of age), hypotonia, ASD, poor-to-no eye-to-eye contact, delay in developmental of peer relationships, lack of or delay in speech, stereotyped hand movements, lack of social or emotional reciprocity, constipation, feeding difficulties, seizures (onset at 7 years, seizure types include generalized tonic-clonic seizures, myoclonic seizures, nodding attack, and drop attack), recurrent respiratory infections
 Intellectual disability
 N/A
 N/A
  N/A
 Unknown
 Duplication
 No
  li_17_ASD/ID/EP_discovery_cases-caseIV:1
 14 yrs. 6 mos.
 M
 ASD, intellectual disability
 Delayed developmental milestones (head control at 3-4 months, sitting at 8 months, walking at 3 years), hypotonia, ASD, poor-to-no eye-to-eye contact, delay in developmental of peer relationships, lack of or delay in speech, stereotyped hand movements, lack of social or emotional reciprocity, constipation, seizures (onset at 10 years, seizure types include generalized tonic-clonic seizures, myoclonic seizures, nodding attack, and drop attack), recurrent respiratory infections. Note: case now deceased.
 Intellectual disability
 153790599
 154377968
  587370
 GRCh38
 Duplication
 No
  li_17_ASD/ID/EP_discovery_cases-caseIV:2
 2 yrs. 6 mos.
 M
 ASD, intellectual disability
 Delayed developmental milestones (head control at 3- 4 months, sitting at 8 months, walking at 1 year 6 months), hypotonia, ASD, poor-to-no eye-to-eye contact, delay in developmental of peer relationships, lack of or delay in speech, stereotyped hand movements, lack of social or emotional reciprocity, constipation
 Intellectual disability
 N/A
 N/A
  N/A
 Unknown
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case137
  NA NA
 7 yrs.
 M
 ASD and language delay
 Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations. Dysmorphic features: prominent ears. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Normal (no intellectual disability or learning disorder)
 152790047
 152875540
  85494
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case138
  NA NA
 10 yrs.
 M
 Psychiatric illness
 Birth history: born at 38 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: psychiatric illness. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Normal (no intellectual disability or learning disorder)
 154399732
 154512101
  112370
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown243
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 153281349
 154498468
  1217120
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown244
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 153961788
 154649655
  687868
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown245
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 153972867
 154140900
  168034
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown246
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 154478059
 154551923
  73865
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown247
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 154478059
 154551923
  73865
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown248
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 155168516
 155197548
  29033
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown249
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)
 
 154892263
 155611935
  719673
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-SK0123-004
 NA
 M
 ASD
 Moderate language delay, very severe repetitive behavior, Hirschsprung disease
 IQ 93
 149186972
 149681127
  494156
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
 N/A
 M
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 155532584
 156003220
  470637
 GRCh38
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
 N/A
 F
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: Ataxia, hypoplastic toes (including phalanges), intellectual disability/developmental delay, microcephaly, myopia, triangular face.
 Developmental delay/intellectual disability
 149608597
 149646912
  38316
 GRCh38
 Duplication
 N/A
  nord_11_ASD_discovery_cases-316-1
 
 
 ASD
 
 
 147404896
 147440547
  35652
 Unknown
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case47
 13 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, antimogoloid palpebral fissures, low set ears, short philtrum, cryptorchidism, stereotypic movements. Note: CNV start and end points extracted from Table 1 do not match up either with CNV locus or CNV gene content.
 
 103499807
 103820412
  320606
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case14144_2420
 NA
 M
 Autism
 No language delay, no epilepsy, neurodevelopmental delay at 2 y, no dysmorphic features
 Normal IQ
 155686314
 155699751
  13438
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case14186_3050
 NA
 M
 Autism
 No language delay, no epilepsy, neurodevelopment delay, no dysmorphic features
 Normal IQ
 155686314
 155699751
  13438
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case14198_3220
 NA
 M
 ASD
 Phrase speech delay, no epilepsy, no dysmorphic features, myopia
 Normal IQ
 155686314
 155699751
  13438
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5036_4
 NA
 M
 Autism
 Below average language (1%ile), no epilepsy, no dysmorphic features; triplet with 2 nonASD brothers
 Average nonverbal IQ (32%ile)
 149186160
 149728078
  541919
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5286_3
 NA
 M
 Autism
 Below average language (1%ile), no epilepsy, no dysmorphic features
 Below average nonverbal IQ (4%ile)
 149604380
 149654460
  50081
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5432_3
 NA
 M
 ASD
 NA
 NA
 153074812
 153251490
  176679
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case6164_4
 NA
 F
 Autism
 Language delay, normal physical exam, normal brain MRI
 Mild MR
 153248612
 153264501
  15890
 Unknown
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case20013_1075001
 16 yrs.
 M
 ASD
 Autism (ADI-R and ADOS positive), no language delay, no dysmorphic features, head circumference 1.43 SD, normal neurological exam, no seizures. Father's medical history: FSIQ 122, PIQ 116, VIQ 123, age at birth of child 24; evidence of social phobia (SADS), allergies, migraines; head circumference 58.3 cm, height 174.9 cm. Mother's medical history: FSIQ 122, PIQ 125, VIQ 117, age at birth of child 22; asthma, symptoms of depression (SADS), head circumference 53.5 cm, height 158.4 cm.
 Normal IQ (WISC-III at 16 y: VIQ 93, PIQ 94, FSIQ 93).
 154357486
 154640328
  282843
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case20128_4016001
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 149613262
 149652965
  39704
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case4166_1
 7 yrs.
 M
 ASD
 ASD (based on medical history and ADI-R, missed criteria by one point on repetitive domain), verbal but history of language delay; history of ear infections, inguinal hernia, hydrocele; normal physical exam. Family history: mother with inguinal hernia; father unaffected.
 Borderline ID (Vineland Adaptive Behavior Composite score 72 at 7 y)
 152701267
 152886187
  184921
 GRCh38
 Duplication
 No
  pinto_14_ASD_discovery_cases2-case4354_1
 N/A
 M
 ASD
 Autism (ADI-R and ADOS positive), language delay (first words 60 mo, first phrases 120 mo), verbal. Family history: N/A.
 Moderate ID (PIQ 36)
 149454601
 149818465
  363865
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case100676L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 151729935
 151853805
  123871
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case104196
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 148452644
 149008917
  556274
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60536L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 148075288
 148610134
  534847
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case61183L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 153033330
 153041286
  7957
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case64380L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 154668574
 154689587
  21014
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68797
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 154667152
 154689587
  22436
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case91545L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 154880998
 154888224
  7227
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case91551L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 149939559
 150084066
  144508
 Unknown
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case20296
 NA
 NA
 ASD
 NA
 NA
 151700875
 151966354
  265479
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case23009
 NA
 NA
 ASD
 NA
 NA
 152731938
 153061110
  329172
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case9047
 NA
 NA
 ASD
 NA
 NA
 149484274
 150030376
  546102
 Unknown
 Deletion
 Yes
  sahoo_11_DD_discovery_cases-patient1
 4 yrs. 2 mos.
 M
 Developmental delay
 Developmental milestones: delayed speech (non-verbal at 16 mos.); development quotient at 16 mos. was 71, receptive communication -3 SD below mean; need for support for cognition, communication, social and adaptive developmental and motor skills determined at 3 yrs. 9 mos. Possible autism based on Gilliams Autism Rating Scale autism index of 94 (suggestive of a very high probability of autism). Limited speech (10-15 words, with occasional short word combinations), lack of expressive speech, receptive & expressive communications <1st %ile. Dysmorphic features: mild flattening of the occiput, prominent nasal tip, bilateral 5th finger clinodactyly. Normal cranial CT scan (2.5 mos.) and brain MRI (2 yrs. 9 mos.). Growth parameters: height, 92.7 cm (25th %ile); weight, 12.26 kg (5th-10th %ile); head circumference, 45.4 cm (<5th %ile). Family history: noncontributory for known genetic disorders or chromosomal conditions, no reported consanguinity.
 Developmental delay. Development quotient for cognitive domain (28 mos.): 62.
 148588846
 148829279
  240434
 GRCh38
 Deletion
 Yes
  sahoo_11_DD_discovery_cases-patient2
 3 yrs. 7 mos.
 M
 Developmental delay
 Developmental milestones: early motor milestones unremarkable, delayed speech and language (first words at 18 mos., early language milestones noticeable delayed at 2.5 yrs.). Substantial deficits in areas of social, fine motor, expressive language, language comprehension, numbers, & general development (Child Development Inventory Profile/CDIP). Behavioral problems: withdrawn, unresponsive to affection, averse to new situations, abnormal behaviors such as hand clapping. Dysmorphic features: none. Growth parameters: height, 98.7 cm (25th %ile); weight, 14.7 kg (10th %ile); head circumference, 48 cm (10th %ile). Family history: two older brothers with a history of speech & language delays.
 Pervasive global developmental delay
 148154732
 148654059
  499328
 GRCh38
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 153910800
 154115553
  204754
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 154302066
 154381603
  79538
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 154153574
 154307767
  154194
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 154153574
 154307767
  154194
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-148
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 154153574
 154652571
  498998
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 154153574
 154307767
  154194
 GRCh38
 Duplication
 No
  sakai_11_ASD_discovery_cases-11092.p1
 NA
 M
 ASD
 History of seizures. Proband also used in Levy et al. 2011 CNV report (levy_11_ASD_discovery_cases-11092.p1)
 IQ, 109; verbal IQ, 108; non-verbal IQ, 125
 154347608
 154551923
  204316
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 151709072
 151709846
  775
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 149800897
 149899942
  99046
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11092.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
 154337682
 154583375
  245694
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11110.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
 151661669
 151662160
  491
 NCBI36
 Deletion
 No
  sanders_11_ASD_discovery_cases-11128.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
 149781364
 149937609
  156246
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 155545002
 155553105
  8104
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11168.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
 155552429
 155557395
  4967
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 149548183
 149665801
  117619
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 149728078
 149934102
  206025
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11198.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
 154142466
 154303574
  161109
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 155550622
 155553105
  2484
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11232.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
 154142466
 154303574
  161109
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11289.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
 154142466
 154303532
  161067
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 154142466
 154303628
  161163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 154142466
 154303532
  161067
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11334.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
 154153043
 154312626
  159584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 149800897
 149937609
  136713
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 149548183
 149578774
  30592
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11409.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
 149781364
 149899942
  118579
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 154142466
 154312626
  170161
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11440.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
 155584790
 155699751
  114962
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11444.p1
 16.3
 F
 Aspergers
 NA
 Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
 154164987
 154230626
  65640
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11479.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
 154153043
 154303532
  150490
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11497.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
 155552429
 155559522
  7094
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 149781364
 149934102
  152739
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11540.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
 151709072
 151709846
  775
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 149797915
 149902009
  104095
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11569.p1
 9.1
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
 154788508
 155054486
  265979
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 155528816
 155557395
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11700.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 149761396
 149940905
  179510
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 153060001
 153251490
  191490
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 151709072
 151709846
  775
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11714.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
 155552429
 155557395
  4967
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11733.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 153074580
 153251490
  176911
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11782.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
 155552429
 155557395
  4967
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12010.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
 153888385
 153891144
  2760
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12097.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
 148246858
 148255762
  8905
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12130.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
 149184587
 149218224
  33638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12152.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
 149613262
 149749526
  136265
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12175.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
 149797915
 149916980
  119066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12260.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
 149797915
 149902009
  104095
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 149797915
 149902009
  104095
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 155550622
 155553105
  2484
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12314.p1
 6.2
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
 154164987
 154230626
  65640
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12346.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
 154164987
 154230626
  65640
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12369.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
 151441512
 151563609
  122098
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12382.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12541.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 133; verbal IQ, 108
 154984262
 155042675
  58414
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12548.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
 149771129
 149929149
  158021
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 155643383
 155668900
  25518
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12605.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12607.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 155550622
 155553105
  2484
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12623.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
 154458898
 154459772
  875
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12640.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 118; verbal IQ, 99
 154164987
 154230626
  65640
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12667.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
 149797915
 149916980
  119066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12682.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
 155557395
 155574640
  17246
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12764.p1
 15.2
 F
 ASD
 NA
 Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
 152147739
 152202420
  54682
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12784.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
 154142466
 154295994
  153529
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12792.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
 151709846
 151873527
  163682
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12828.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
 151065144
 151098897
  33754
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12831.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
 155552429
 155557395
  4967
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12843.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
 149761396
 149902009
  140614
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12879.p1
 10.3
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
 149797915
 149902009
  104095
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12921.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12975.p1
 10.4
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 151709072
 151709846
  775
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13073.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
 155550622
 155553105
  2484
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 151709072
 151709846
  775
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13322.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
 149479743
 149781364
  301622
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13327.p1
 12.6
 M
 Aspergers
 NA
 Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
 154143410
 154295994
  152585
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13337.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
 154153043
 154230626
  77584
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case49
 3 yrs.
 F
 Congenital anomalies
 Congenital anomalies, Dysmorphism
 
 154890368
 155331063
  440696
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case69
 2 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 
 154022066
 154312938
  290873
 GRCh38
 Duplication
 No
  soueid_16_ASD_discovery_cases-caseCLIN35
 N/A
 F
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 149791696
 149877850
  86155
 GRCh38
 Duplication
 No
  stamouli_18_ASD/NDD_discovery_cases-family50_Twin_1
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
 
 154348866
 154359897
  11032
 GRCh38
 Duplication
 No
  stettner_11_ID/ASD_discovery_cases-patient1
 11 yrs. 7 mos.
 M
 Intellectual disability + autistic traits
 Birth/neonatal history: normal pregnancy, birth at term, normal early postnatal history. Developmental milestones: symptomatic at 2 yrs of age (mild motor and prominent language developmental delays). No formal diagnosis of autism/ASD, but patient displays autistic features (hand flapping, restricted interests, repetitive behavior, impaired social interaction & communication that became more obvious with age). Behavioral characteristics: aggression, impulsivity, agitation, attention deficit, hyperkinetic symptoms. Neuropsychological testing incomplete due to severe behavioral problems. Dysmorphic features: no minor anomalies or facial abnormalities. Audiological evaluation (at 3 yrs.): normal. Epilepsy/seizures: none. Brain MRI: normal. Growth parameters: OFC, 20th %ile. Family history: brother with similar phenotype; clinically unaffected mother who is a carrier for the deletion; older brother exhibits mild ADHD, but no intellectual disability or autistic features (does not have AFF2 deletion); maternal aunt with non-syndromic mild intellectual disability but no behavioral abnormalities (does not have AFF2 deletion); materal uncle with non-syndromic mild intellectual disability and behavioral abnormalities/autistic features (has AFF2 deletion).
 Mild intellectual disability (ID)
 148573748
 148719506
  145759
 GRCh38
 Deletion
 No
  stettner_11_ID/ASD_discovery_cases-patient2
 10 yrs. 4 mos.
 M
 Intellectual disability + autistic traits
 Birth/neonatal history: normal pregnancy, birth at term, normal early postnatal history. Developmental milestones: symptomatic at 2 yrs of age (mild motor and prominent language developmental delays). No formal diagnosis of autism/ASD, but patient displays autistic features (hand flapping, restricted interests, repetitive behavior, impaired social interaction & communication that became more obvious with age). Behavioral characteristics: aggression, impulsivity, agitation, attention deficit, hyperkinetic symptoms. Dysmorphic features: no minor anomalies or facial abnormalities. Audiological evaluation (at 3 yrs.): normal. Epilepsy/seizures: none. Growth parameters: OFC, 2nd %ile. Family history: brother with similar phenotype; clinically unaffected mother who is a carrier for the deletion; older brother exhibits mild ADHD, but no intellectual disability or autistic features (does not have AFF2 deletion); maternal aunt with non-syndromic mild intellectual disability but no behavioral abnormalities (does not have AFF2 deletion); materal uncle with non-syndromic mild intellectual disability and behavioral abnormalities/autistic features (has AFF2 deletion).
 Mild intellectual disability (ID); WISC IV full-scale IQ score of 65 (verbal comprehension 65, working memory 50, perceptual reasoning 92, processing speed 79)
 148573748
 148719506
  145759
 GRCh38
 Deletion
 No
  tropeano_16_ASD/NDD_replication_cases-case92
 14- 20 years
 M
 Developmental delay
 Developmental delay, recurrent infections
 Developmental delay
 152789896
 155940378
  3150483
 GRCh38
 Duplication
 No
  tropeano_16_ASD_discovery_cases-MAAS3
 40-49 yrs.
 M
 ASD
 Case diagnosed with atypical autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 2.
 
 149041660
 149542023
  500364
 GRCh38
 Duplication
 Yes
  tzetis_12_DD/ID_discovery_cases-case62
 
 M
 ASD
 Microcephaly, arched palate, hypotonia, ataxia, long digits, speech delay, single palmar crease, hypomyelinosis, ASD
 
 150793720
 155856875
  5063156
 GRCh38
 Duplication
 No
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 154145662
 154240069
  94408
 GRCh38
 Deletion
 No
  vanmarsenille_13_ID/SCZ_discovery_cases-caseAV1
 29 yrs.
 M
 Intellectual disability and schizophrenia
 DSM-IV diagnosis of schizophrenia of the paranoid type at age of 22 years. Birth/neonatal history: born after uneventful pregnancy. Behavioral/psychiatric evaluation: admitted to boarding school for intellectually disabled children at age of 13 years for severe behavioral difficulties; referred to psychiatrist at age of 15 years (diagnosed with paranoid ideas, treated with pimozide); presented with fugues and verbal aggression at this time; admitted to psychiatric unit due to severe automutiliation; anxious and had paranoid ideas; avoided contact with other patients and showed poor hygiene; readmitted at age of 29 years with similar psychiatric problems (clozapine, zuclopenthixol, and valproic acid prescribed at this time). Brain imaging: no abnormalities on brain MRI. Other features: orchidopexy undertaken at age of 7 years, diagnosed with unilateral dysplasia of the hip. Dysmorphic features: long face, high forehead, ears with simple helices. Growth parameters: height of 179 cm (50th %ile), weight of 126.3 kg (97th %ile = 106 kg), BMI of 39.42, and OFC of 59 cm (97th %ile). Family history: second child of healthy unrelated Belgian parents; healthy older brother; family history is negative for ID or congenital anomalies.
 Mild intellectual disability; TIQ of 61, PIQ of 64, and VIQ of 68 on Wechsler Adult Intelligence Scale (WAIS).
 154890327
 155376506
  486180
 GRCh38
 Duplication
 Yes
  vanmarsenille_13_ID/SCZ_discovery_cases-caseKM1
 6.5 yrs.
 M
 Intellectual disability
 Birth/neonatal history: born at term with birth weight of 3400 g. Developmental milestones: normal early development; started to walk at age of 13 months. Language and communication evaluation: dysarthric speech. Motor and musculoskeletal evaluation: clumsy and spastic gait; sandal gap in feet. short T2, partial syndactyly of T2-3. Behavioral/psychiatric evaluation: difficulties with socialization. EEG: normal. Brain imaging: normal brain MRI. Other features: mildly feminine body composition (wide hips with fat distribution); frequent bronchitis and allergy episodes; later diagnosed with ashtma. Dysmorphic features: deep set eyes, high nasal bridge. Growth parameters: normal growth; height of 116 cm (0 SD), weight of 20.5 kg (-0.5 SD), and head circumference of 51 cm (-1 SD). Family history: only child of nonconsanguineous Estonian parents; half-brother with mild ID, half-sister with epilepsy; mother not tested.
 Mild intellectual disability; Wechsler Intelligence Scale for Children (WISCI) IQ score of 60 (verbal < nonverbal; 61 and 67, respectively)
 154890327
 155376506
  486180
 GRCh38
 Triplication
 Yes
  vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.1
 6.5 yrs.
 M
 Intellectual disability
 Case present in DECIPHER database (patient ID 248532). Birth/neonatal history: born at term with birth weight of 3690 g (50th %ile), length of 50 cm (50th %ile), and head circumference of 32.5 cm (5th %ile). Language and communication evaluation: speech impairment. Behavioral/psychiatric evaluation: aggressive behavior. Dysmorphic features: high forehead, frontal cow-lick, large ears, auricular pits, hypertelorism, anteverted nares, enlarged philtrum, thin upper lip, spaced central incisors. Growth parameters: weight of 32.2 kg (>97th %ile), height of 131.54 cm (>97th %ile), and head circumference of 51 cm (50th %ile). Family history: born to unrelated Caucasian parents; affected younger brother presenting with mild ID, speech impairment, mild craniofacial anomalies, cow-lick, and large ears; mother with learning difficulties but no other anomalies.
 Mild-moderate intellectual disability
 154890327
 155376506
  486180
 GRCh38
 Duplication
 Yes
  vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.2
 3 yrs.
 M
 Intellectual disability
 Language and communication evaluation: speech impairment. Dysmorphic features: mild craniofacial anomalies, cow-lick, large ears. Family history: born to unrelated Caucasian parents; affected older brother presenting with similar phenotype; mother with learning difficulties but no other anomalies.
 Mild intellectual disability
 154890327
 155376506
  486180
 GRCh38
 Duplication
 No
  wenger_16_ASD_discovery_cases-case31
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 154307767
 154601444
  293678
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case15
 
 M
 Intellectual disability
 Bilateral inguinal hernia, ataxia
 Intellectual disability
 148320788
 149650526
  1329739
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case31
 
 M
 Intellectual disability
 Multiple congenital anomalies (MCA)
 Intellectual disability
 149110754
 149610516
  499763
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case32
 
 M
 Hypotonia
 Hypotonia
 
 149440542
 149640538
  199997
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case33
 
 M
 Intellectual disability
 Multiple congenital anomalies (MCA)
 Intellectual disability
 150241118
 150710870
  469753
 GRCh38
 Duplication
 No
  xu_12_ASD_discovery_cases-patient01A
 9 yrs. 5 mos.
 M
 ASD
 Patient diagnosed with autism using DSM-IV at 4 years and 11 months of age; ADOS score at 9 years 5 months of age well above cutoff for autistic disorder. ADOS scores: communication, 6; social interaction, 14; combined, 20. Bayley Scales of Infant Development-3 scores: developmental age, 9 months; receptive language, 15 months; expressive language, 6 months; fine motor, 15 months; gross motor, 15 months. Birth/neonatal history: born at full-term following uneventful birth; hospitalized once at age of a few months. Developmental milestones: general developmental delay (able to walk at age of 20 months). Language and communication evaluation: generated a couple of words at age of 3-4 years; currently only capable of saying "mama" and had passive understanding of simple sentences as spoken by mother; no other langauge or echolalia. Motor and musculoskeletal evaluation: walked and ran slightly unsteadily, could not jump with both feet off the ground, slightly hypotonic. Behavioral/psychiatric evaluation: occasionally ran around with other children, but could not engage in interactive play; anxiety when encountering strangers or when entering a new environment; clapped hands when happy. Epilepsy/seizures: none. Sleep disturbances: none. Dysmorphic features: large ears, depressed nasal bridge. Other features: no history of respiratory infections, frequent constipation, not ill very often. Growth parameters: normal height range, slightly slender. Family history: healthy, non-consanguineous parents; mother had slightly higher scores in somatization, depression, anxiety and psychoticism on completing Symptom Checklist-90; older brother with ASD/autistic disorder; sister who died one month after birth following premature borth and poor feeding (DNA sample N/A).
 Weschler Intelligence Scale scores: verbal IQ <40, performance IQ <40, full-scale IQ <40.
 152200833
 154361209
  2160377
 GRCh38
 Duplication
 Yes
  xu_12_ASD_discovery_cases-patient01B
 18 yrs.
 M
 ASD
 ADOS score well above cutoff for autistic disorder. ADOS scores: communication, 5; social interaction, 12; combined, 17. Bayley Scales of Infant Development-3 scores: developmental age, 6 months; receptive language, 11 months; expressive language, 5 months; fine motor, 12 months; gross motor, 15 months. Developmental milestones: learned to walk at 20 months. Language and communication evaluation: no language; able to passively understand simple phraases as spoken by mother. Motor and musculoskeletal evaluation: walked and ran slightly unsteadily; liked to walk on toes; unable to jump with both feet off the floor. Behavioral/psychiatric evaluation: stayed in room alone at all times other than meal times; liked to look at cars on the street and was very excited by wheels; put hands to mouth and laughed loudly when happy; frequent hand-flapping; did nto engage in interaction with others, but laughed often. Epilepsy/seizures: no history. Brain imaging: no obvious abnormalities on previous CT scan. Dysmorphic features: depressed nasal bridge, midface hypoplasia. Other features: no history of respiratory infections or other major medical treatments. Growth parameters: normal height & weight. Family history: healthy, non-consanguineous parents; mother had slightly higher scores in somatization, depression, anxiety and psychoticism on completing Symptom Checklist-90; younger brother with autism/autistic disorder; sister who died one month after birth following premature borth and poor feeding (DNA sample N/A).
 Weschler Intelligence Scale scores: verbal IQ <36, performance IQ <14, full-scale IQ <24.
 152200833
 154361209
  2160377
 GRCh38
 Duplication
 Yes
  xu_16_ASD/DD/ID_discovery_cases-case39
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 154562646
 155650820
  1088175
 GRCh38
 Duplication
 No
  yon_17_ASD/ID/EP_discovery_cases-case1
 11 yrs.
 M
 ASD, intellectual disability, and epilepsy
 Case diagnosed with autistic spectrum disorder in accordance with DSM-V. Birth/neonatal history: born at 41 weeks gestation by spontaneous vaginal delivery; birth weight of 2500 g; treated in NICU over three weeks due to infantile central hypotonia with poor sucking; feeding difficulties in infancy remedied via special feeding techniques and improved gradually with age. Developmental milestones: developmental delay; independent walking at 36 months of age. Language and communication evaluation: unable to form any meaningful words; language development at the 14-month level according to the Korean-Child Development Review (K-CDR). Motor and musculoskeletal evaluation: gross and fine motor skills corresponded to those observed in children aged 30 and 20 months, respectively, according to the Korean-Child Development Review (K-CDR); motor scale of Bayley Scales of Infant Development test II (BSID II), 14 month function; generalized hypotonia; significant weakness in the extremities; choreiform movements (hand wringing); moderated increased spasticity of the lower limbs. Behavioral/psychiatric evaluation: social development at the 18-month level according to the Korean-Child Development Review (K-CDR); no eye contact; no social-emotional reciprocity; excessive adherence to use of a pencil; hand stereotypies (hand shaking); hyper-reactivity to unusual interests. Epilepsy/seizures: generalized tonic-clonic seizures (onset at 10 years of age, successfuly treated with oxycarbamazepine). EEG: epileptic sharp wave discharges from the right temporal cerebral area with poorly regulated posterior rhythm and slow background activity. Brain imaging: normal brain MRI. Additional medical history: recurrent infections (bacterial infections including pneumonia and gastroenteritis, requiring hospitalization about three times a year). Dysmorphic features: brachycephaly, slightly upturned nares, large ears, low set ears. Growth parameters: height of 149 cm (50th-75th %ile), weight of 50 kg (75th-90th %ile), and OFC of 53 cm (75th-90th %ile). Family history: similarly affected brother with Xq28 duplication; mother with Xq28 duplication had normal cognition but suffered from psychiatric symptoms (depressive episodes and narcolepsy with frequent cataplexy), sometimes collapsed when standing or walking, presented with prominent lips, and had an IQ of 77 (6th %ile) as measured by the Korean Wechsler Adult Intelligence Scale fourth edition (K-WAIS-IV), suggesting borderline intellectual disability; father passed away in a car accident.
 Severe intellectual disability [based on mental developmental index of the Bayley Scales of Infant Development test II (BSID II), which yielded an equivalent age of 24 months]
 153761848
 154173293
  411446
 GRCh38
 Duplication
 Yes
  yon_17_ASD/ID/EP_discovery_cases-case2
 10 yrs.
 M
 ASD, intellectual disability, and epilepsy
 Case diagnosed with autistic spectrum disorder in accordance with DSM-V at 8 years of age. Birth/neonatal history: born at 41 weeks gestation via C-section due to cephalopelvic disproportion); birth weight of 3000 g. Developmental milestones: global developmental delay; independent walking at 25 months of age. Language and communication evaluation: language development at the 14-month level according to the Korean-Child Development Review (K-CDR); unable to produce any meaningful words. Motor and musculoskeletal evaluation: gross and fine motor skills corresponded to those observed in children aged 30 and 22 months, respectively, according to the Korean-Child Development Review (K-CDR); motor scale of Bayley Scales of Infant Development test II (BSID II), 12 month function; choreiform movements; moderate increased spasticity of the lower limbs; excessive drooling. Behavioral/psychiatric evaluation: social development at the 16-month level according to the Korean-Child Development Review (K-CDR); no eye contact or facial expressions; strong attachment to unusual objects (flipping through pages of books). Epilepsy/seizures: generalized tonic-clonic seizures (onset at 10 years of age, successfully treated with valproic acid). EEG: frequent generalized bursts of epileptic sharp wave discharges from both the frontal cerebral area followed by attenuation of background activity. Brain imaging: normal brain MRI. Additional medical history: recurrent infections (multiple bacterial infections resulting in pneumonia, each time leading to hospitalization). Dysmorphic features: large ears, slightly upturned nares, midface hypoplasia, depressed nasal bridge. Growth parameters: height of 139 cm (75th-90th %ile), weight of 37 kg, and head circumference of 54 cm (75th-90th %ile). Family history: similarly affected brother with Xq28 duplication; mother with Xq28 duplication had normal cognition but suffered from psychiatric symptoms (depressive episodes and narcolepsy with frequent cataplexy), sometimes collapsed when standing or walking, presented with prominent lips, and had an IQ of 77 (6th %ile) as measured by the Korean Wechsler Adult Intelligence Scale fourth edition (K-WAIS-IV), suggesting borderline intellectual disability; father passed away in a car accident.
 Severe intellectual disability [based on mental developmental index of the Bayley Scales of Infant Development test II (BSID II), which yielded an equivalent age of 9 months]
 153761848
 154173293
  411446
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-caseAU047703
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 154880726
 155366686
  485961
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU047704
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 154879726
 155375351
  495626
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU3636302
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 155249231
 155261376
  12146
 GRCh38
 Deletion
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case239189S
  NA NA
 N/A
 F
 ADHD
 Primary diagnosis: ADHD. Additional phenotype(s): PTSD no additional phenotypes reported early abuse
 
 155166931
 155451707
  284777
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlSSC05132
  N/A
  M
  Control
  Control from SSC_phase1 cohort
 
  154456630
  154461314
  4685
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-control110036023398_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149587083
  149787838
  200756
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036024651_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  152988519
  153322433
  333915
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB154343_0057061622
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB159476_1007873588
  N/A
  N/A
  Control
  No previous psychiatric history
 
  155327381
  155454002
  126622
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB267330_1007841417
  N/A
  N/A
  Control
  No previous psychiatric history
 
  150204096
  150729015
  524920
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB326966_1007875802
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149604380
  149652965
  48586
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB329167_0067942632
  N/A
  N/A
  Control
  No previous psychiatric history
 
  154583375
  155276456
  693082
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB395840_1007872297
  N/A
  N/A
  Control
  No previous psychiatric history
 
  153134125
  153239095
  104971
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB418695_1007840289
  N/A
  N/A
  Control
  No previous psychiatric history
 
  152725403
  152920495
  195093
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB497682_1007842348
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149767069
  149899942
  132874
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB506410_1007874896
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB520147_1007873599
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149675472
  149864387
  188916
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB539168_1007853974
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB565962_1007873333
  N/A
  N/A
  Control
  No previous psychiatric history
 
  153134125
  153229130
  95006
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB587867_1007848509
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149488413
  149787838
  299426
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB596896_1007850211
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149899942
  99046
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB627204_1007846383
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149833605
  149899942
  66338
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB667665_1007852536
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB681290_1007874840
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149665801
  149974723
  308923
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB781862_1007846109
  N/A
  N/A
  Control
  No previous psychiatric history
 
  153074812
  153251490
  176679
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB784802_1007846124
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB884573_1007852580
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149801677
  149916980
  115304
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149797915
  149929149
  131235
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149755404
  149916980
  161577
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149565076
  149652965
  87890
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900542_900542
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149797915
  149916980
  119066
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
  N/A
  N/A
  Control
  No previous psychiatric history
 
  154156377
  154301540
  145164
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149800897
  149929149
  128253
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901158_901158
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149797915
  149902009
  104095
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149797915
  149902009
  104095
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149797915
  149916980
  119066
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
  N/A
  N/A
  Control
  No previous psychiatric history
 
  153162163
  153273198
  111036
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149653630
  149827392
  173763
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149617109
  149740928
  123820
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_119
  NA
  NA
  Control
  NA
  NA
  153123668
  153250226
  126559
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_149
  NA
  NA
  Control
  NA
  NA
  149509108
  149681127
  172020
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11857.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  149603986
  149631580
  27595
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12152.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  149631542
  149716776
  85235
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12343.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  153910699
  153912804
  2106
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12829.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  149608626
  149631580
  22955
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13171.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151622936
  151659838
  36903
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13322.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  149482745
  149764806
  282062
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13535.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  153152067
  153273226
  121160
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14037.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  149688929
  149764806
  75878
  GRCh38
  Duplication
  Yes
  kushima_18_ASD/SCZ_discovery_controls-controlCON1739
  26 yrs.
  M
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  155530103
  155570608
  40506
  GRCh38
  Deletion
  N/A
  nord_11_ASD_discovery_controls-04C27075
 
 
  Control
 
 
  153437471
  153532205
  94735
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11004.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154303628
  150586
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11046.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  148744070
  148747138
  3069
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11088.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  155545002
  155548462
  3461
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11168.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  155552429
  155557395
  4967
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11242.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154302066
  149024
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11266.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  149797915
  149902009
  104095
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11285.s1
  16.4
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154302066
  149024
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11325.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  154142466
  154312626
  170161
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  149548183
  149578774
  30592
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  149804505
  149899942
  95438
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  155584790
  155699751
  114962
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11490.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  155552429
  155557395
  4967
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11497.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  155552429
  155557395
  4967
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11564.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  155550622
  155553105
  2484
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11620.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  150033428
  150040102
  6675
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11714.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  155552429
  155557395
  4967
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  155686314
  155699751
  13438
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  152131162
  152164379
  33218
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  149748745
  149934102
  185358
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  149565076
  149657734
  92659
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11917.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  151312149
  151329506
  17358
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  149797915
  149916980
  119066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12011.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154230626
  77584
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12030.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  155552429
  155557395
  4967
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12071.s1
  19.6
  M
  Control (matched sibling)
  NA
  NA
  149800897
  149899942
  99046
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12086.s1
  25.2
  M
  Control (matched sibling)
  NA
  NA
  154142466
  154295931
  153466
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12121.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  155557395
  155560032
  2638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12152.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  149613262
  149749526
  136265
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12162.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  155550622
  155553105
  2484
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12175.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  149797915
  149929149
  131235
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12180.s1
  21.4
  F
  Control (matched sibling)
  NA
  NA
  155550622
  155553105
  2484
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12313.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  155550622
  155553105
  2484
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12314.s1
  8.2
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154230626
  77584
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  154890669
  155373472
  482804
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12361.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154230626
  77584
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  155686314
  155699751
  13438
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12497.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  149787838
  149929149
  141312
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  155686314
  155699751
  13438
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154230626
  77584
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  155548462
  155553105
  4644
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12598.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  152153810
  152164379
  10570
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12598.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  155686314
  155699751
  13438
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12623.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  154458898
  154459772
  875
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12682.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  155557395
  155578509
  21115
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  155686314
  155699751
  13438
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12787.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  149797915
  149902009
  104095
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12794.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  154153043
  154230626
  77584
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12796.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  152153810
  152164379
  10570
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12829.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  149604380
  149652965
  48586
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  155552429
  155557395
  4967
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13159.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  154164987
  154230626
  65640
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  154164987
  154230626
  65640
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  149797915
  149902009
  104095
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13322.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  149479743
  149787838
  308096
  GRCh38
  Duplication
  No
  soueid_16_ASD_discovery_controls-control14
  N/A
  N/A
  Control
 
 
  149791696
  149877850
  86155
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 addis_15_ASD_replication_cases-caseMM1259-003
 qPCR or another method
 
 Unknown
 Multiplex
 Possibly segregated
 TMLHE-AS1,TMLHE
 
 addis_15_ASD_replication_cases-caseMM1259-004
 qPCR or another method
 
 Unknown
 Multiplex
 Possibly segregated
 TMLHE-AS1,TMLHE
 
 asadollahi_14_NDD_discovery_cases-case56761
 MLPA
 
 Paternal
 Unknown
 Unknown
 AMD1P2,DPH3P2,VAMP7
 
 bartnik_12_EP_discovery_cases-case8
 
 
 Maternal
 
 
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
 
 bartnik_12_EP_discovery_cases-case8
 FISH
 
 Maternal
 
 
 PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 battaglia_13_DD/ID/ASD_discovery_cases-case75
 FISH or qPCR
 Maternal
 Maternal
 Possible multi-generational
 Segregated
 IDSP1,CXorf40A,IDS,LINC00893
 
 battaglia_13_DD/ID/ASD_discovery_cases-case77
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,FLNA,TAZ,ATP6AP1,PLXNA3,RPL10,DNASE1L1
 
 bitar_19_ASD_discovery_cases-case91
 qPCR
 
 Maternal
 
 
 IDSP1,CXorf40A,HSFX3,IDS,LINC00893
 
 brandler_16_ASD_discovery_cases_caseREACH000145
 Solid phase hybridization (Illumina 2.5M)
 
 De novo
 Unknown
 Possibly segregated
 TMEM185A
 
 brandler_18_ASD_discovery_cases-caseREACH000145
 SNP VCF
 
 De novo
 
 
 HSFX2,MAGEA9B,TMEM185A
 
 brandler_18_ASD_discovery_cases-caseREACH000704
 SNP VCF
 
 De novo
 
 
 F8A1,MIR1184-1,CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 brandler_18_ASD_discovery_cases-caseSSC05124
 PCR or SNP data validation
 
 Maternal
 
 
 PLXNA3
 
 bremer_11_ASD_discovery_cases-case12
 MLPA, FISH
 
 Maternal
 NA
 NA
 LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,L1CAM
 
 brunet_21_NDD_discovery_cases-case115
 
 
 Maternal
 Unknown
 
 ARHGAP4,HCFC1,OPN1MW,IRAK1,TEX28P2,OPN1MW2,TEX28P1,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,RENBP,OPN1LW,NAA10,TMEM187
 
 celestino-soper_11_ASD_discovery_cases-11000
 aCGH (Agilent 4x180K or 8x60K)
 
 Inherited
 Simplex
 NA
 TMLHE-AS1,TMLHE
 
 celestino-soper_11_ASD_discovery_cases-11443
 Solid phase hybridization (Illumina 1M SNP)
 
 Inherited
 Simplex
 NA
 FAM223B,IKBKGP1,CTAG2
 
 chaves_19_ASD/DD/ID_discovery_cases-case151
 
 
 Unknown
 
 
 RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1293
 Nimblegen aCGH
 
 De novo
 Simplex (negative family history)
 Segregated
 PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,CETN2,ZNF185,ZNF275,HAUS7,L1CAM
 
 cukier_12_ASD_discovery_cases-case39283-0001
 
 
 Unknown
 Unknown
 Unknown
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,L1CAM
 
 cukier_12_ASD_discovery_cases-case39283-0001
 Array SNP
 
 Maternal
 Simplex for ASD; multiplex for DD/ID and allergies
 Not segregated for ASD; segregated for DD/ID and allergies
 IRAK1,MIR718,MECP2
 
 davis_09_ASD_discovery_cases-AU019705
 
 
 Unknown
 Unknown
 Unknown
 many
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299916
 qPCR
 
 Maternal
 
 
 CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 du_21_ASD/DD/ID_discovery_cases-case198
 
 
 Unknown
 
 
 ABCD1,AVPR2,ATP2B3,ARHGAP4,BGN,TEX28,DUSP9,SRPK3,HAUS7,PDZD4,CCNQ,ZFP92,PNCK,IDH3G,IRAK1,OPN1MW,HCFC1,KRT18P48,CYCSP45,RPL18AP16,PNMA6E,TEX28P1,TEX28P2,OPN1MW2,L1CAM,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,OPN1MW3,PLXNB3,RENBP,OPN1LW,ECMXP,SSR4,SLC6A8,RN7SL667P,RN7SL687P,TKTL1,NAA10,TMEM187,BCAP31,TREX2
 
 engchuan_15_ASD_discovery_cases-case14022_460
 
 
 Unknown
 
 
 PNMA6A,PNMA6B,MAGEA1
 
 engchuan_15_ASD_discovery_cases-case14216_3470
 
 
 Unknown
 
 
 SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 engchuan_15_ASD_discovery_cases-case16036_1571014001
 
 
 Unknown
 
 
 TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case16048_1571101001
 
 
 Unknown
 
 
 TMEM185A
 
 engchuan_15_ASD_discovery_cases-case16067_1571134001
 
 
 Unknown
 
 
 TMEM185AP1,HSFX1,MAGEA11
 
 engchuan_15_ASD_discovery_cases-case16067_1571134001
 
 
 Unknown
 
 
 MIR2114,XRCC6P2,CXorf40B,HSFX4,LINC00894
 
 engchuan_15_ASD_discovery_cases-case16090_1571122001
 
 
 Unknown
 
 
 TMEM185A,MAGEA11
 
 engchuan_15_ASD_discovery_cases-case20013_1075001
 
 
 De novo
 
 
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 engchuan_15_ASD_discovery_cases-case20081_1370001
 
 
 Unknown
 
 
 MAGEA1
 
 engchuan_15_ASD_discovery_cases-case20128_4016001
 
 
 Unknown
 
 
 TMEM185A
 
 engchuan_15_ASD_discovery_cases-case20162_1653001
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case2055_2
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case3491_3
 
 
 Unknown
 
 
 PNMA6A,PNMA6B,MAGEA1,PNMA3
 
 engchuan_15_ASD_discovery_cases-case4166_1
 
 
 Unknown
 
 
 CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,MAGEA2B,CSAG1,NSDHL,MAGEA3,CETN2
 
 engchuan_15_ASD_discovery_cases-case4349_1
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case4350_1
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case4354_1
 
 
 Unknown
 
 
 IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
 
 engchuan_15_ASD_discovery_cases-case4531_1
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case4548_1
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case5036_4
 
 
 Unknown
 
 
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
 
 engchuan_15_ASD_discovery_cases-case5286_3
 
 
 Unknown
 
 
 TMEM185A
 
 engchuan_15_ASD_discovery_cases-case5352_3
 
 
 Unknown
 
 
 PNMA6A,PNMA6B,PNMA5,PNMA3,ZNF185
 
 engchuan_15_ASD_discovery_cases-case5432_3
 
 
 Unknown
 
 
 PNMA6A,PNMA6B,MAGEA1
 
 engchuan_15_ASD_discovery_cases-case6010_4
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case6109_3
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case6175_6
 
 
 Unknown
 
 
 TMLHE-AS1,TMLHE
 
 engchuan_15_ASD_discovery_cases-case6367_5
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case8437_202
 
 
 Unknown
 
 
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 engchuan_15_ASD_discovery_cases-case8454_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8605_202
 
 
 Unknown
 
 
 CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850
 
 engchuan_15_ASD_discovery_cases-case8723_201
 
 
 Unknown
 
 
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 firouzabadi_16_ASD_discovery_cases-patient2
 qPCR
 
 De novo
 Simplex
 Likely segregated
 RPL18AP16,RN7SL687P,SLC6A8,DUSP9,PNCK,BCAP31
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263985
 
 
 Maternal
 Simplex
 Unknown
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 fry_16_DD/ID/EP/ASD_discovery_cases-caseR198
 
 
 Unknown
 
 
 PASD1
 
 gardner_21_DD_discovery_cases-caseDECIPHER279220
 
 
 De novo
 
 
 MECP2
 
 gazzellone_14_ASD_discovery_cases-case493-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 gazzellone_14_ASD_discovery_cases-case511-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 gazzellone_14_ASD_discovery_cases-case519-3
 
 
 Unknown
 Unknown
 Unknown
 OPN1LW,TEX28P2
 
 guo_19_DD/ID_discovery_cases-case21
 
 
 Unknown
 
 
 HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 hanchard_12_ASD_discovery_cases-case1
 FISH, MLPA
 Paternal: epilepsy. Both parents: cognitive processing problems.
 Paternal
 Multiplex
 CNV possibly segregates with epilepsy in pedigree
 MECP2
 Increased expression of MECP2 and MECP2-TEX26 fusion gene
 hnoonual_17_ASD_discovery_cases-caseRA32
 
 
 Maternal
 
 
 
 
 hnoonual_17_ASD_discovery_cases-caseRA6
 
 
 Maternal
 
 
 AMD1P2,SPRY3,TMLHE-AS1,TMLHE
 
 hu_18_ASD/ADHD_discovery_cases-case1
 qPCR
 Possibly maternal
 Maternal
 Possibly mult-generational
 Likely segregated
 CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,MAGEA2B,CSAG1,NSDHL,MAGEA3,CETN2,ZNF185
 Almost 3-fold increase in NSDHL RNA expression compared to normal males
 iourov_12_ASD/ID/EP_discovery_cases-case23
 PCR or qPCR
 
 Unknown
 Unknown
 Unknown
 LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1
 
 iourov_12_ASD/ID/EP_discovery_cases-case32
 PCR or qPCR
 
 Unknown
 Unknown
 Unknown
 LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,L1CAM
 
 iourov_12_ASD/ID/EP_discovery_cases-case35
 PCR or qPCR
 
 Unknown
 Unknown
 Unknown
 LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,L1CAM
 
 iourov_12_ASD/ID/EP_discovery_cases-case48
 PCR or qPCR
 
 Unknown
 Unknown
 Unknown
 RAB39B,H2AFB2,F8A2,MIR1184-2,CLIC2
 
 iourov_12_ASD/ID/EP_discovery_cases-case49
 PCR or qPCR
 
 Unknown
 Unknown
 Unknown
 LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,L1CAM
 
 iourov_12_ASD/ID/EP_discovery_cases-case50
 
 
 Unknown
 Unknown
 Unknown
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD
 
 iourov_12_ASD/ID/EP_discovery_cases-case51
 PCR or qPCR
 
 Unknown
 Unknown
 Unknown
 KRT18P48,RPL18AP16,RN7SL687P,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,HAUS7
 
 iourov_12_ASD/ID/EP_discovery_cases-case51
 PCR or qPCR
 
 Unknown
 Unknown
 Unknown
 EMD,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,OPN1MW3,TEX28
 
 jiao_19_EP/DD/ID_discovery_cases-case63576
 
 
 Unknown
 Unknown
 Unknown
 HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 jiao_19_EP/DD/ID_discovery_cases-caseDD18009846
 
 
 De novo
 Simplex
 Segregated
 RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,LINC00894
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AMD1P2,DPH3P2,SPRY3,VAMP7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000852
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,OPN1MW3,TEX28
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000911
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRPC6P,IL9R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000913
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,LINC00894
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000933
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,LINC00894
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001028
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HMGN1P37,H2AFB1,F8A1,MIR1184-1,SMIM9,EEF1A1P31,MPP1,F8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001032
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 AMD1P2,DPH3P2,SPRY3,VAMP7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRPC6P,IL9R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRPC6P,IL9R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001152
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001154
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IL9R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IL9R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001167
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AMD1P2,DPH3P2,SPRY3,VAMP7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRPC6P,WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRPC6P,WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001180
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001231
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001243
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 WASIR1,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001689
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001693
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CMC4,MTCP1,BRCC3,F8,FUNDC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001726
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001745
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001766
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001800
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001862
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,DDX11L16,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001867
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001868
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CMC4,MTCP1,BRCC3,F8,FUNDC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001869
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CMC4,MTCP1,BRCC3,F8,FUNDC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001912
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001924
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MAMLD1,MTM1,MTMR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001974
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001978
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002028
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AMD1P2,DPH3P2,ELOCP24,TRPC6P,SPRY3,VAMP7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002092
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,L1CAM
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002187
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002386
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 AMD1P2,DPH3P2,ELOCP24,VAMP7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002606
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NSDHL,CETN2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002685
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IDS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002693
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SLC6A8,PLXNB3,IDH3G,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002777
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002790
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002799
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 IDSP1,IDS,LINC00893
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003986
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004018
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004046
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004130
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,MTCP1,VBP1,SPRY3,VAMP7,IL9R,WASH6P,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004283
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,PNMA5,CETN2,ZNF185
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004341
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004382
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,PNMA5,CETN2,ZNF185
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004408
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,SPRY3,VAMP7,IL9R,WASH6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004417
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004469
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004558
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AMD1P2,DPH3P2,SPRY3,VAMP7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004572
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MECP2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004604
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CMC4,RAB39B,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004833
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004852
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004860
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004949
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005022
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,PNMA5,CETN2,ZNF185
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005057
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005159
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005231
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005404
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kim_18_DD/ID_discovery_cases-case3
 
 
 De novo
 
 
 PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 kim_18_DD/ID_discovery_cases-case4
 
 
 Unknown
 
 
 RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,L1CAM
 
 krumm_15_ASD_discovery_cases-case11193.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 TMEM185A
 
 krumm_15_ASD_discovery_cases-case11569.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 HMGN1P37,H2AFB1,F8A1,MIR1184-1,SMIM9,EEF1A1P31,MPP1,F8,FUNDC2
 
 krumm_15_ASD_discovery_cases-case11704.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MAGEA1
 
 krumm_15_ASD_discovery_cases-case11733.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 MAGEA1
 
 krumm_15_ASD_discovery_cases-case12798.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 FATE1,CNGA2
 
 krumm_15_ASD_discovery_cases-case13322.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
 
 krumm_15_ASD_discovery_cases-case13405.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 MTCP1,BRCC3,VBP1
 
 krumm_15_ASD_discovery_cases-case13511.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 PNMA6E,RN7SL667P,ZFP92,TREX2,ZNF275,HAUS7
 
 krumm_15_ASD_discovery_cases-case13762.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TMEM185A
 
 kushima_18_SCZ_discovery_cases-caseSCZ0186
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 
 TMLHE-AS1,TMLHE
 
 kushima_18_SCZ_discovery_cases-caseSCZ2140
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 TMLHE-AS1,TMLHE
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case10
 
 
 Unknown
 
 
 RPL18AP16,RN7SL687P,SLC6A8,PNCK,BCAP31,ABCD1
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case17
 
 
 Unknown
 
 
 AVPR2,ARHGAP4
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case27
 
 
 Unknown
 
 
 KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case40
 
 
 Unknown
 
 
 RPL18AP16,RN7SL687P,SLC6A8,PNCK,BCAP31,ABCD1
 
 lengyel_20_ASD/DD/ID_discovery_cases-case10
 
 
 Unknown
 
 
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 lengyel_20_ASD/DD/ID_discovery_cases-case3
 
 
 Unknown
 
 
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 lesca_12_EP_discovery_cases-case10-114
 qPCR
 
 Maternal
 Unknown
 Unknown
 VBP1
 
 levy_11_ASD_discovery_cases-11092.p1
 
 
 De novo
 Simplex
 Segregated
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 lintas_17_ASD_discovery_cases-case1.3
 Validation by visual inspection, RT-PCR, or PCR
 
 Maternal
 Multiplex
 Not segregated (CNV only observed in 1/3 affected siblings)
 KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,HAUS7,L1CAM
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
 
 
 Unknown
 
 
 CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,GAB3
 
 li_17_ASD/ID/EP_discovery_cases-caseIII:16
 FISH
 
 Maternal
 Multi-generational
 Segregated
 IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
 
 li_17_ASD/ID/EP_discovery_cases-caseIII:6
 
 
 Maternal
 Multi-generational
 Segregated
 IDH3G,SSR4,PDZD4,L1CAM,AVPR2,ARHGAP4,NAA10,RENBP,HCFC1,TMEM187,IRAK1,MECP2,OPN1LW,OPN1MW2,OPN1MW,OPN1MW3,TEX28,TKTL1,FLNA
 
 li_17_ASD/ID/EP_discovery_cases-caseIV:1
 
 
 Maternal
 Multi-generational
 Segregated
 IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
 
 li_17_ASD/ID/EP_discovery_cases-caseIV:2
 
 
 Maternal
 Multi-generational
 Segregated
 IDH3G,SSR4,PDZD4,L1CAM,AVPR2,ARHGAP4,NAA10,RENBP,HCFC1,TMEM187,IRAK1,MECP2,OPN1LW,OPN1MW2,OPN1MW,OPN1MW3,TEX28,TKTL1,FLNA
 
 maini_18_ASD/DD/ID_discovery_cases-case137
 
 
 Maternal
 Not simplex
 Unknown
 NSDHL,CETN2
 
 maini_18_ASD/DD/ID_discovery_cases-case138
 
 
 Maternal
 Not simplex
 Unknown
 SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,TAZ,ATP6AP1,PLXNA3,UBL4A,RPL10,DNASE1L1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown243
 
 
 Maternal
 Unknown
 Unknown
 PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown244
 
 
 Maternal
 Unknown
 Unknown
 HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown245
 
 
 De novo
 Unknown
 Unknown
 MIR3202-1,MIR3202-2,IRAK1,MIR718,TMEM187,MECP2
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown246
 
 
 Paternal
 Unknown
 Unknown
 LAGE3,SLC10A3,RN7SL697P,FAM3A,UBL4A,IKBKG,G6PD
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown247
 
 
 Paternal
 Unknown
 Unknown
 LAGE3,SLC10A3,RN7SL697P,FAM3A,UBL4A,IKBKG,G6PD
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown248
 
 
 De novo
 Unknown
 Unknown
 VBP1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown249
 
 
 De novo
 Unknown
 Unknown
 CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 marshall_08_ASD_discovery_cases-SK0123-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
 
 
 Unknown
 Unknown
 Unknown
 AMD1P2,DPH3P2,ELOCP24,TRPC6P,SPRY3,VAMP7,IL9R,TMLHE-AS1,TMLHE
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
 
 
 Unknown
 Unknown
 Unknown
 TMEM185A
 
 nord_11_ASD_discovery_cases-316-1
 
 
 Maternal
 
 
 AFF2
 
 oikonomakis_16_ASD_discovery_cases-case47
 
 
 De novo
 
 
 TCEAL3-AS1,MORF4L2-AS1,TMEM31,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,MORF4L2
 
 pinto_10_ASD_discovery_cases-case14144_2420
 qPCR
 
 maternal
 Simplex
 NA
 
 
 pinto_10_ASD_discovery_cases-case14186_3050
 
 
 maternal
 Simplex
 NA
 
 
 pinto_10_ASD_discovery_cases-case14198_3220
 qPCR
 
 maternal
 Simplex
 NA
 
 
 pinto_10_ASD_discovery_cases-case5036_4
 Agilent1M
 
 maternal
 Multiplex (sib with Aspberger)
 NA
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
 
 pinto_10_ASD_discovery_cases-case5286_3
 qPCR-Maternal,Agilent1M
 
 maternal
 Simplex
 NA
 TMEM185A
 
 pinto_10_ASD_discovery_cases-case5432_3
 Agilent1M
 
 maternal
 NA
 NA
 PNMA6A,PNMA6B,MAGEA1
 
 pinto_10_ASD_discovery_cases-case6164_4
 qPCR
 
 maternal
 Simplex
 NA
 FLNA exonic, EMD
 
 pinto_14_ASD_discovery_cases2-case20013_1075001
 qPCR, LR-PCR (sequencing coordinates: chrX:153,222,048-153,514,311, size 292,264 bp)
 
 De novo
 Simplex
 (unaffected younger brother and sister, not tested)
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 pinto_14_ASD_discovery_cases2-case20128_4016001
 qPCR
 
 Maternal (X-linked in a male)
 Simplex
 (no siblings)
 TMEM185A
 
 pinto_14_ASD_discovery_cases2-case4166_1
 Validation not attempted
 
 Maternal (X-linked in a male)
 Simplex
 Unknown (not tested)
 CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,MAGEA2B,CSAG1,NSDHL,MAGEA3,CETN2
 
 pinto_14_ASD_discovery_cases2-case4354_1
 Validation not attempted
 
 Maternal (X-linked in a male)
 Simplex
 Unknown (not tested)
 IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
 
 prasad_12_ASD_discovery_cases-case100676L
 qPCR
 
 Maternal
 Unknown
 Unknown
 ZNF185,CETN2,NSDHL
 
 prasad_12_ASD_discovery_cases-case104196
 
 
 Unknown
 Unknown
 Unknown
 MAGEA11,LOC100272228,MAGEA8,CXorf40B,HSFX2,MAGEA9,HSFX1,MAGEA9B,TMEM185A
 
 prasad_12_ASD_discovery_cases-case60536L
 
 
 Unknown
 Unknown
 Unknown
 MAGEA11,LOC100131434,IDS,HSFX2,CXorf40A,MAGEA9,HSFX1,MAGEA9B,TMEM185A
 
 prasad_12_ASD_discovery_cases-case61183L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case64380L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case68797
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case91545L
 
 
 Unknown
 Unknown
 Unknown
 IL9R
 
 prasad_12_ASD_discovery_cases-case91551L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 rosenfeld_10_ASD_discovery_cases-case20296
 FISH
 
 Unknown
 Unknown
 Unknown
 CETN2,NSDHL,ZNF185,PNMA5
 
 rosenfeld_10_ASD_discovery_cases-case23009
 FISH
 
 Maternal
 Unknown
 Unknown
 PDZD4,L1CAM,AVPR2,ARHGAP4,NAA10,RENBP,HCFC1,TMEM187,IRAK1,MECP2
 
 rosenfeld_10_ASD_discovery_cases-case9047
 FISH
 
 De novo
 Unknown
 Unknown
 MTM1,MTMR1,CD99L2,HMGB3
 
 sahoo_11_DD_discovery_cases-patient1
 FISH
 
 Maternal
 Unknown
 Unknown
 RN7SKP267,AFF2
 
 sahoo_11_DD_discovery_cases-patient2
 FISH
 
 Unknown
 Multiplex (brothers with speech & language delays)
 Unknown
 RPL7L1P11,AFF2-IT1,AFF2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
 qPCR
 
 Unknown
 Unknown
 Unknown
 NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
 qPCR
 
 Unknown
 Unknown
 Unknown
 EMD,TKTL1,FLNA
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-148
 qPCR
 
 Maternal
 Unknown
 Unknown
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sakai_11_ASD_discovery_cases-11092.p1
 aCGH (CMA BAC V8.1, Baylor MGL)
 
 De novo
 Simplex
 NA
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-11092.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 sanders_11_ASD_discovery_cases-11110.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11128.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CXorf40A,HSFX3,HSFX2,MAGEA9B,TMEM185A
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
 
 sanders_11_ASD_discovery_cases-11198.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11232.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11289.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11334.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CXorf40A,HSFX3
 
 sanders_11_ASD_discovery_cases-11409.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-11479.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-11497.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
 
 sanders_11_ASD_discovery_cases-11540.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-11569.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN1P37,H2AFB1,F8A1,MIR1184-1,SMIM9,EEF1A1P31,MPP1,F8,FUNDC2
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11700.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Unknown
 Simplex (trio)
 NA
 TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Unknown
 Simplex (trio)
 NA
 PNMA6A,PNMA6B,MAGEA1,PNMA3
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Unknown
 Simplex (trio)
 NA
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-11714.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11733.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PNMA6A,PNMA6B,MAGEA1
 
 sanders_11_ASD_discovery_cases-11782.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Unknown
 Simplex (trio)
 NA
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12010.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 LCA10
 
 sanders_11_ASD_discovery_cases-12097.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12152.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TMEM185A,MAGEA11
 
 sanders_11_ASD_discovery_cases-12175.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-12260.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-12314.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12346.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12369.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12382.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12541.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 F8,FUNDC2
 
 sanders_11_ASD_discovery_cases-12548.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Both parents
 Simplex (trio)
 NA
 TMLHE
 
 sanders_11_ASD_discovery_cases-12605.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12607.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-12623.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 PLXNA3
 
 sanders_11_ASD_discovery_cases-12640.p1
 
 
 Unknown
 Simplex (trio)
 NA
 TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12667.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-12764.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GABRA3
 
 sanders_11_ASD_discovery_cases-12784.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-12792.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12794.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12798.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FATE1,CNGA2
 
 sanders_11_ASD_discovery_cases-12828.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12831.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-12843.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-12879.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
 sanders_11_ASD_discovery_cases-12921.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-12975.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Unknown
 Simplex (trio)
 NA
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-13073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMLHE-AS1,TMLHE
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
 
 sanders_11_ASD_discovery_cases-13327.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 sanders_11_ASD_discovery_cases-13337.p1
 
 
 Unknown
 Simplex (trio)
 NA
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 sansovic_17_DD/ID/ASD_discovery_cases-case49
 
 
 Unknown
 
 
 CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 sansovic_17_DD/ID/ASD_discovery_cases-case69
 
 
 De novo
 
 
 MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
 soueid_16_ASD_discovery_cases-caseCLIN35
 
 
 Maternal
 N/A
 
 MAGEA7P,DUTP4,LINC00850
 
 stamouli_18_ASD/NDD_discovery_cases-family50_Twin_1
 
 
 Unknown
 Multiplex
 Not segregated (CNV not present in affected twin)
 FLNA
 
 stettner_11_ID/ASD_discovery_cases-patient1
 
 
 Maternal
 Multiplex
 Segregated
 AFF2
 
 stettner_11_ID/ASD_discovery_cases-patient2
 
 
 Maternal
 Multiplex
 Segregated
 AFF2
 
 tropeano_16_ASD/NDD_replication_cases-case92
 
 
 Unknown
 Unknown
 Unknown
 PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 tropeano_16_ASD_discovery_cases-MAAS3
 MLPA or aCGH
 
 Unknown
 Unknown
 Unknown
 IDSP1,CXorf40A,IDS,LINC00893
 
 tzetis_12_DD/ID_discovery_cases-case62
 
 
 Unknown
 Unknown
 
 PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
 vanmarsenille_13_ID/SCZ_discovery_cases-caseAV1
 qPCR
 
 Maternal
 Simplex
 
 CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 Increased expression of BRCC3, VBP1, and RAB39B; decreased expression of CLIC2
 vanmarsenille_13_ID/SCZ_discovery_cases-caseKM1
 qPCR
 
 Unknown
 Simplex
 
 CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.1
 qPCR
 
 Maternal
 Multiplex
 
 CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 Increased expression of BRCC3, VBP1, RAB39B, and CLIC2
 vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.2
 
 
 Maternal
 Multiplex
 
 CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 wenger_16_ASD_discovery_cases-case31
 
 
 Unknown
 
 
 EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
 
 willemsen_12_DD/ID_discovery_cases-case15
 
 
 De novo
 
 
 RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,AFF2
 
 willemsen_12_DD/ID_discovery_cases-case31
 
 
 Maternal
 
 
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
 
 willemsen_12_DD/ID_discovery_cases-case32
 
 
 Maternal
 
 
 IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
 
 willemsen_12_DD/ID_discovery_cases-case33
 
 
 Maternal
 
 
 MAMLD1,MTM1,MTMR1
 
 xu_12_ASD_discovery_cases-patient01A
 qPCR, aCGH
 
 Maternal
 Multiplex
 Segregated
 RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28
 
 xu_12_ASD_discovery_cases-patient01B
 qPCR, aCGH
 
 Maternal
 Multiplex
 Segregated
 RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28
 
 xu_16_ASD/DD/ID_discovery_cases-case39
 
 
 Maternal
 
 
 FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
 
 yon_17_ASD/ID/EP_discovery_cases-case1
 Array SNP (Affymetrix CytoScan HD)
 Possibly maternal
 Maternal
 Possibly multi-generational
 Likely segregated
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,L1CAM
 
 yon_17_ASD/ID/EP_discovery_cases-case2
 Array SNP (Affymetrix CytoScan HD)
 Possibly maternal
 Maternal
 Possibly multi-generational
 Likely segregated
 PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,L1CAM
 
 yuen_17_ASD_discovery_cases-caseAU047703
 Not available
 
 Maternal
 Multiplex
 Possibly segregated
 H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 yuen_17_ASD_discovery_cases-caseAU047704
 Not available
 
 Maternal
 Multiplex
 Possibly segregated
 H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
 yuen_17_ASD_discovery_cases-caseAU3636302
 Not available
 
 Maternal
 Multiplex
 Not segregated
 RAB39B
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case239189S
 RT-qPCR or WGS
 
 Unknown
 
 
 RAB39B,F8A2,MIR1184-2,VBP1,CLIC2
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05132
  PCR or SNP data validation
 
  Maternal
 
 
  PLXNA3
 
engchuan_15_ASD_discovery_controls-control110036023398_
 
 
  Unknown
 
 
  HSFX2,TMEM185AP1,HSFX1,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
 
engchuan_15_ASD_discovery_controls-control110036024651_
 
 
  Unknown
 
 
  PNMA6A,PNMA6B,MAGEA1,PNMA5,PNMA3,PNMA6F
 
engchuan_15_ASD_discovery_controls-controlB154343_0057061622
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB159476_1007873588
 
 
  Unknown
 
 
  H2AFB2,F8A2,MIR1184-2,CLIC2
 
engchuan_15_ASD_discovery_controls-controlB267330_1007841417
 
 
  Unknown
 
 
  MIR2114,XRCC6P2,MAMLD1,MTM1,MTMR1,LINC00894
 
engchuan_15_ASD_discovery_controls-controlB326966_1007875802
 
 
  Unknown
 
 
  TMEM185A
 
engchuan_15_ASD_discovery_controls-controlB329167_0067942632
 
 
  Unknown
 
 
  CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,MPP1,F8,FUNDC2,CLIC2
 
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
 
 
  Unknown
 
 
  MAGEA1
 
engchuan_15_ASD_discovery_controls-controlB418695_1007840289
 
 
  Unknown
 
 
  MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,CETN2,ZNF185
 
engchuan_15_ASD_discovery_controls-controlB497682_1007842348
 
 
  Unknown
 
 
  TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB506410_1007874896
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB520147_1007873599
 
 
  Unknown
 
 
  TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA11,MAGEA9,LINC00850
 
engchuan_15_ASD_discovery_controls-controlB539168_1007853974
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
 
 
  Unknown
 
 
  MAGEA1
 
engchuan_15_ASD_discovery_controls-controlB587867_1007848509
 
 
  Unknown
 
 
  IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
 
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
 
 
  Unknown
 
 
  MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB667665_1007852536
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB681290_1007874840
 
 
  Unknown
 
 
  TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
 
engchuan_15_ASD_discovery_controls-controlB781862_1007846109
 
 
  Unknown
 
 
  PNMA6A,PNMA6B,MAGEA1
 
engchuan_15_ASD_discovery_controls-controlB784802_1007846124
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
 
 
  Unknown
 
 
  TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
 
 
  Unknown
 
 
  HSFX2,MAGEA9B,TMEM185A
 
engchuan_15_ASD_discovery_controls-controlHABC_900542_900542
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
 
 
  Unknown
 
 
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_901158_901158
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
 
 
  Unknown
 
 
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
 
 
  Unknown
 
 
  MAGEA1
 
engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
 
 
  Unknown
 
 
  TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA11,MAGEA9,LINC00850
 
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
 
 
  Unknown
 
 
  TMEM185A,MAGEA11
 
girirajan_11_ASD_discovery_controls-NIMH_119
 
 
  Unknown
 
 
  MAGEA1
 
girirajan_11_ASD_discovery_controls-NIMH_149
 
 
  Unknown
 
 
  IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
 
krumm_15_ASD_discovery_controls-control11857.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TMEM185A
 
krumm_15_ASD_discovery_controls-control12152.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TMEM185A,MAGEA11
 
krumm_15_ASD_discovery_controls-control12343.s1
  Illumina 1MDuo
 
  Maternal
 
 
  ARHGAP4
 
krumm_15_ASD_discovery_controls-control12829.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TMEM185A
 
krumm_15_ASD_discovery_controls-control13171.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PASD1
 
krumm_15_ASD_discovery_controls-control13322.s1
  Illumina 1MDuo
 
  Maternal
 
 
  IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
 
krumm_15_ASD_discovery_controls-control13535.s1
  1M-Duov3
 
  Maternal
 
 
  MAGEA1
 
krumm_15_ASD_discovery_controls-control14037.s1
  Omni2.5-4v1
 
  Maternal
 
 
  MAGEA11
 
kushima_18_ASD/SCZ_discovery_controls-controlCON1739
  While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
  Unknown
 
 
  TMLHE-AS1,TMLHE
 
nord_11_ASD_discovery_controls-04C27075
 
 
 
 
 
  CTAG1A,CTAG1B,NCRNA00204,NCRNA00204B,IKBKG
 
sanders_11_ASD_discovery_controls-11004.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
sanders_11_ASD_discovery_controls-11046.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AFF2
 
sanders_11_ASD_discovery_controls-11088.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-11168.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-11242.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
sanders_11_ASD_discovery_controls-11266.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-11285.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
sanders_11_ASD_discovery_controls-11325.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CXorf40A,HSFX3
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-11490.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-11497.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-11564.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-11620.s1
 
 
  Both parents
  Simplex (quad)
  NA
  LINC00894
 
sanders_11_ASD_discovery_controls-11714.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MAGEA10,MAGEA10-MAGEA5
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HSFX2,MAGEA9B,TMEM185A
 
sanders_11_ASD_discovery_controls-11917.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-12011.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
sanders_11_ASD_discovery_controls-12030.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-12071.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-12086.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
 
sanders_11_ASD_discovery_controls-12121.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-12152.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TMEM185A,MAGEA11
 
sanders_11_ASD_discovery_controls-12162.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-12175.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-12180.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-12313.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-12314.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
 
sanders_11_ASD_discovery_controls-12361.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12497.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-12598.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12598.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12623.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PLXNA3
 
sanders_11_ASD_discovery_controls-12682.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12787.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-12794.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
sanders_11_ASD_discovery_controls-12796.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12829.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TMEM185A
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TMLHE-AS1,TMLHE
 
sanders_11_ASD_discovery_controls-13159.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TEX28P2,OPN1MW,TEX28P1,OPN1MW2
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
 
sanders_11_ASD_discovery_controls-13322.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
 
soueid_16_ASD_discovery_controls-control14
 
 
 
 
 
  MAGEA7P,DUTP4,LINC00850
 

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