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15q13.2-q13.3CNV Type: Deletion-Duplication


Largest CNV size: 2000000 bp

Statistics Box:
Number of Reports: 45



Summary Information

Individuals with CNVs at this locus are thought to have an increased risk for a wide range of clinical features, including autism. The CHRNA7 gene within the 15q13.3 locus may be clinically relevant in ASD pathogenesis.

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
De novo rates and selection of large copy number variation.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv d...
Duplication
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
NA
Deletion-Duplication
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NA
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion-Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
NA
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
NA
Deletion
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion-Duplication
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 1556082
 1
 0
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 2000000
 1
 1
 2
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 1737550
 1
 0
 1
 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
 2000000
 0
 1
 1
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 1373098
 1
 0
 1
 chen_16_ASD/DD/ID/EP_discovery_cases
 Case with a small supernumerary marker chromosome (sSMC) derived from chromosome 15 [karyotype of 47,XY,+invdup(15)(pter->q13::q13->pter)]
 1
 Case presented with hypotonia, ataxic gait, developmental delay, intellectual disability, epilepsy, poor speech, and autism during follow-up at 21 years of age
 21 yrs.
 Male
 2055183
 0
 1
 1
 christofolini_12_ASD_discovery_cases
 Patient with mild motor development delay, minor dysmorphic facial features, and autistic behavior.
 1
 Diagnosis of autism based on clinical criteria of DSM-IV and results obtained in different instruments, including parent questionnaire, ABC, and CARS. Additional diagnoses of intellectual disability and epilepsy.
 13 yrs.
 Male
 2400000
 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
 1600000
 2
 1
 3
 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
 2175711
 3
 0
 3
 egle_16_DD/ID_discovery_cases
 Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
 66
 All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
 N/A
 N/A
 1400000
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 1852842
 3
 1
 4
 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
 2537675
 3
 0
 3
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 1
 0
 1
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
 18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
 18
 7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
 Average, 9.9 years
 66.67% Male
 2100000
 0
 1
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 1350000
 85
 27
 112
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 1575769
 3
 0
 3
 girirajan_13a_DD_discovery_cases
 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
 31518
 Developmental delay
 NA
 NA
 1575769
 42
 0
 42
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 1333162
 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
 2140000
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 1507911
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 2497240
 41
 13
 54
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 1578057
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 2270814
 N/A
 N/A
 6
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 1749652
 2
 0
 2
 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
 1868778
 1
 2
 3
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 1700000
 3
 1
 4
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 1377343
 0
 1
 1
 mahjani_21_ASD_discovery_cases
 Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
 996
 Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
 Average age at diagnosis, 8.2 yrs.
 70% Male
 1595302
 3
 1
 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
 1500000
 1
 0
 1
 miller_09_ASD/DD/MR_discovery_cases
 Clinical samples from Children's Hospital Boston (CHB)
 1445
 Diagnoses of developmental delay (n=639), mental retardation or learning disability (n=49), autism spectrum disorder or PDD (n=262), multiple congenital anomalies (n=118), dysmorphic features (n=224), seizures (n=49), or undefined/other phenotypes (n=104)
 
 
 1980000
 5
 2
 7
 miller_09_ASD_replication_cases
 AGRE: 751 multiplex families
 1441
 ASD
 
 
 1930000
 0
 3
 3
 moreira_14_ASD/EP_discovery_cases
 ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
 531
 ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
 N/A
 N/A
 1560000
 1
 0
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 1590281
 0
 1
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 2391427
 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
 
 
 1730000
 1
 0
 1
 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
 1852843
 2
 0
 2
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 1481000
 1
 0
 1
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 2074245
 2
 2
 4
 reinthaler_14_EP_discovery_cases
 Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
 281
 Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
 N/A
 58.72% Male
 1600000
 1
 0
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 1484558
 1
 0
 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
 1737231
 2
 1
 3
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 1982000
 2
 2
 4
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 1795532
 0
 1
 1
 wolfe_16_ID_discovery_cases
 Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
 202
 All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
 Mean age, 37 yrs. (range, 18-78 yrs.)
 63% Male
 2343021
 1
 0
 1
 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
 900000
 1
 0
 1
 yap_21_ASD_discovery_cases
 ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
 723
 Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
 Range, 2-17 yrs.
 NA
 1507203
 2
 0
 2
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 1980000
 6
 0
 6
 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
 2072474
 4
 0
 4

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_controls
 CNVs from the Database of Genomic Variants (DGV)
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 1508710
 0
 1
 1
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1350000
 0
 3
 3
 girirajan_13a_ASD_discovery_controls3
 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
 8329
 Control
 NA
 NA
 0
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 1308304
 0
 3
 3
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 301770
 0
 1
 1
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 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
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 54290
 0
 1
 1
 reinthaler_14_EP_discovery_controls
 Unscreened population controls
 1512
 Control
 N/A
 49.93% Male
 1600000
 1
 1
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 brandler_18_ASD_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
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 chen_16_ASD/DD/ID/EP_discovery_cases
  Taiwan
 Karyotyping, aCGH
  Platform not reported
 
 
 FISH
 christofolini_12_ASD_discovery_cases
  Brazilian
 Array SNP
  Affymetrix Genome-Wide Human SNP Nsp/Sty 6.0 array
 HMM
 Affymetrix ChAS
 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
 egle_16_DD/ID_discovery_cases
  Lithuania
 aCGH
  Agilent 60K, Agilent 105K, or Agilent 1M
 ADM-2
 Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
 FISH or RT-PCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
  N/A
 CMA
  Platform N/A
 
 
 MLPA
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 girirajan_13a_DD_discovery_cases
  NA
 N/A
  N/A
 
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 aCGH (Agilent hotspot 2x400K)
 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
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 qPCR
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 mahjani_21_ASD_discovery_cases
  Sweden
 WES
  Infinium OmniExpress Exome
 PennCNV
 NA
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 miller_09_ASD/DD/MR_discovery_cases
 
 aCGH
  Agilent 244K
 
 
 MLPA, FISH
 miller_09_ASD_replication_cases
 
 Array SNP
  Affymetrix 5.0
 COPPER, Birdseye
 
 aCGH, MLPA
 moreira_14_ASD/EP_discovery_cases
  Ethnically-mixed Brazilian
 MLPA
 
 
 
 Array SNP
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 None
 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
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 reinthaler_14_EP_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
 PennCNV
 Illumina Genome Viewer
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 qPCR
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 None
 wolfe_16_ID_discovery_cases
  74% White British
 aCGH
  Nimblegen 135K
 
 
 qPCR, FISH, QF-PCR
 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
 yap_21_ASD_discovery_cases
  Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
 Solid phase hybridization
  Illumina Global Screening Array v1 and v2
 PennCNV, iPattern
 GenomeStudio v.2.0.4
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  egle_16_DD/ID_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls3
  NA
  Array SNP
  N/A
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
  FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  reinthaler_14_EP_discovery_controls
  German
  Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
  PennCNV
  Illumina Genome Viewer
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  annunziata_21_ASD_discovery_cases-caseIB393
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD (ADOS scores NA). Birth/neonatal history: born at term via eutocic delivery following a normal pregnancy. EEG: slow activity, no epileptiform discharges. Brain imaging: normal. Additional medical history: cutaneous and minor cardiac malformations. Dysmorphic features: peculiar facial characteristics. Growth parameters: NA. Family history: negative.
 Total IQ/GQ was not tested
 30662522
 32218603
  1556082
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case12
 2 yrs. 9 mos.
 F
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Mild DD/ID
 30646012
 32218662
  1572651
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case36
 1 yr. 11 mos.
 M
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Moderate DD/ID
 30646012
 32621939
  1975928
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_discovery_cases-caseREACH000083
 N/A
 M
 Developmental disorder
 Case from REACH cohort
 
 30518398
 32255949
  1737552
 GRCh38
 Deletion
 Yes
  bremer_11_ASD_discovery_cases-case3
 16
 F
 ASD
 Syndromic ASD, sporadic case
 IQ>70
 30361674
 32343758
  1982085
 GRCh38
 Duplication
 Yes
  chaves_19_ASD/DD/ID_discovery_cases-case77
  NA NA
 N/A
 M
 ASD
 DIL, autism, and hyperactivity
 
 30781532
 32154629
  1373098
 GRCh38
 Deletion
 No
  chen_16_ASD/DD/ID/EP_discovery_cases-case1
 21 yrs.
 M
 ASD, DD, ID, and epilepsy
 Birth/neonatal history: amniocentesis at 27 weeks of gestation identified a sSMC derived from chromosome 15; unremarkable prenatal ultrasound findings; birth weight of 3434 g; delivery at term with no phenotypic abnormalities. Developmental milestones: developmental delay. Lanaguge and communication evaluation: poor speech. Motor and musculoskeletal evaluation: hypotonia; ataxic gait. Behavioral/psychiatric evaluation: autism. Epilepsy/seizures: epilepsy. Growth parameters: height of 161 cm, weight of 56 kg. Family history: mother was 35 years old, gravida 3, para 2; father was 37 years old; parental karyotypes were normal; no family history of congenital malformations. Karyotype: 47,XY,+invdup(15)(pter->q13::q13->pter).
 Intellectual disability
 30097840
 32153025
  2055186
 GRCh38
 Duplication
 Yes
  christofolini_12_ASD_discovery_cases-case1
 13 yrs.
 M
 Autism
 Diagnosis of autism based on clinical criteria of DSM-IV and results obtained in different instruments, including parent questionnaire, ABC, and CARS. Birth/neonatal history: born at term by C-section; feeding difficulties reported during newborn period. Developmental milestones: motor/developmental delay noted at 1st genetic consultation at age of 4 yrs 5 mos. Language and communication evaluation: limited verbal & non-verbal language repertoire consisting only of ioslated words without evident communicative intention. Motor and musculoskeletal evaluation: gross & fine motor functions more preserved at 12 yrs. 9 mos. Behavioral/psychiatric evaluation: stereotyped movements of hands and head first noted at 4 yrs. 5 mos.; carbamazepine introduced at 7 years of age due to hyperactivity; gaze avoidance and lack of imitative or symbolic skills. Epilepsy/seizures: tonic/atonic seizures and absences developed at 13 years; medicated with carbamazepine and periciazone for antiepileptic treatment. EEG: various abnormalities including asymmetric, generalized rhythmic spike-and-wave discharges, lasting 6-8 sec followed by slow background activity, which predominates at right. Dysmorphic features: upslanted palpebral fissures, highly arched palate, mild convergent strabismus, anteverted nares, surgically corrected bilaterla cryptorchidism. Growth parameters (at 12 yrs. 9 mos.): height, 144 cm (3rd-15th %ile); weight, 32 kg with BMI for age of 15.43 (-3 z-score); head circumference, 54.5 cm (50th %ile). Family history: first child of young, non-consanguienous healthy couple; two normal younger sisters.
 Intellectual impairment (first noted during 1st genetic consultation at age of 4 yrs. 5 mos.)
 30212862
 32623392
  2410531
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299881
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 30722305
 32218662
  1496358
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299968
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 30722305
 32218662
  1496358
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300628
  NA NA
 N/A
 M
 Developmental delay
 Global developmental delay, defect in the atrial septum
 
 30646012
 32218662
  1572651
 GRCh38
 Duplication
 Yes
  du_21_ASD/DD/ID_discovery_cases-case283
 21 mos.
 F
 Developmental delay
 Developmental delay, decreased motor activity, gross motor developmental delay
 
 30365748
 32541458
  2175711
 GRCh38
 Deletion
 No
  du_21_ASD/DD/ID_discovery_cases-case361
 5 yrs.
 M
 ASD and developmental delay
 Closed fracture of the shaft of the clavicle, mixed receptive-expressive language disorder, speech disturbance, autism spectrum disorder, global developmental delay
 
 30445140
 32222140
  1777001
 GRCh38
 Deletion
 No
  du_21_ASD/DD/ID_discovery_cases-case506
 4 yrs.
 M
 Developmental delay
 Global developmental delay, family history of intellectual disabilities
 
 30644081
 32222140
  1578060
 GRCh38
 Deletion
 No
  egle_16_DD/ID_discovery_cases-case5_1
 10 yrs.
 F
 Intellectual disability
 Muscular hypotonia, obesity, minor facial anomalies
 Intellectual disability
 30722305
 32146742
  1424438
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14167_2720
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 30626045
 32356670
  1730626
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16040_1571029001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 30370928
 32223772
  1852845
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case18100_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 30635007
 32223772
  1588766
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8467_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 30824597
 31092594
  267998
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258866
 N/A
 M
 Learning disability
 Prominent ears; Hyperextensible hand joints; Specific learning disability
 
 30092001
 32629678
  2537678
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259348
 N/A
 M
 Developmental delay
 Global developmental delay
 
 30621363
 32421788
  1800426
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260823
 N/A
 M
 Motor delay
 Motor delay; Hemiplegia; Congenital strabismus; Plagiocephaly
 
 30372942
 32629678
  2256737
 GRCh38
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patientP
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Deletion
 No
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient16
 13 yrs.
 F
 ASD and intellectual disability
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for autism on ADOS (clinical impression of ASD). Original reason for referral: Intellectual disability, speech delay, history of submucous cleft palate. Developmental milestones: sitting at 7 months, crawling at 9 months, walking at 16 months, first word at 48 months, two word sentences at 96 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotobia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 15th %ile, OFC 75th %ile. Ethnicity: Caucasian/Korean. Family history: carrier parental phenotype, father has a history of apraxia and reading problems, as well as a history of reading therapy; noncarrier parental phenotype, mohter has a history of hypotonia and comprehension problems in school, as well as a history of mild depression; two siblings with unspecified neuropsychiatric conditions (one with additional cognitive deficits) that tested negative for the CHRNA7 duplication.
 Full scale ratio IQ (DAS-II): 77.
 30077814
 32154629
  2076816
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case0575
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0576
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0577
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0578
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0579
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0580
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0581
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0582
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0583
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0584
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0585
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0586
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0587
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0588
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0589
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0590
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0591
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0592
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0593
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0594
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0595
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0596
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0597
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0598
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0599
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0600
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0601
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0602
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0603
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0604
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0605
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0606
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0607
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0608
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0609
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0610
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0611
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0612
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0613
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0614
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0615
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0616
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0617
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0618
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0619
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0620
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0621
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0622
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0623
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0624
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0625
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0626
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0627
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0628
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0629
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0630
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0631
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0632
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0633
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0634
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0635
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0636
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0637
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0638
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0639
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0640
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0641
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0642
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0643
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0644
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0645
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0646
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0647
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0648
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0649
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0650
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0651
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0652
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0653
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0654
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0655
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0656
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0657
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0658
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0659
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0660
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0661
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0662
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0663
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0664
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0665
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0666
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0667
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0668
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0669
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0670
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0671
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0672
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0673
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0674
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0675
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0676
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0677
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0678
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0679
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0680
 NA
 NA
 Developmental delay
 NA
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case23858
 10 yrs.
 M
 Developmental delay
 Encephalopathy. Global developmental delay, with greatest delays in speech. Behavioral problems: stereotypies, aggression, ADHD. Normal tone. Poor articulation. Seizures ar 2 years. Dysmorphic features: small pointed chin, large ears, high anterior hairline, frontal bossing, positional plagiocephaly. Other features: intrauterine growth retardation (IUGR). Growth parameters: weight 25th-50th %ile, height 25th-50th %ile, OFC unknown. Family history: mother and father both have learning disability; father also has stutter.
 Global developmental delay
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case26112
 9 yrs. 3 mos.
 F
 Intellectual disability
 Normal tone. Mild hearing loss. Dysmorphic features: short philtrum, full lips. Growth parameters: weight 75th %ile, height 75th %ile, OFC -1.1 SD. Family history: 2 half-siblings (not tested) with ADHD and behavioral problems.
 Mild ID (IQ 56)
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case39259
 NA
 NA
 ASD
 Autistic disorder
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case52609
 NA
 NA
 MCA
 Cystic kidneys, absent bladder and small stomach; patient deceased
 NA
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case55326
 NA
 NA
 MCA
 Multiple congenital anomalies (MCA), dysmorphic features, bilateral hand contractures, bilateral clubfeet, growth delay
 NA
 30840505
 32190507
  1350003
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case63335
 NA
 NA
 Developmental delay
 Delayed developmental milestones, overgrowth
 Developmental delay
 30840505
 32190507
  1350003
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13301.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13647.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU1802301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 30620505
 32150507
  1530003
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase162
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase163
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase164
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase165
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase166
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase167
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase168
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase169
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase170
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase171
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase172
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase173
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase174
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase175
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase176
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase177
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase178
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase179
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase180
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase181
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase182
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase183
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase184
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase185
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase186
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase187
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase188
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase189
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase190
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase191
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase192
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase193
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase194
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase195
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase196
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase197
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase198
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase199
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase200
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase201
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase202
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase203
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 30577428
 32153199
  1575772
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-9106105625
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 30833597
 32166761
  1333165
 GRCh38
 Duplication
 Yes
  hnoonual_17_ASD_discovery_cases-caseAR83-3
 N/A
 F
 ASD
 No additional clinical features
 
 30079571
 32222140
  2142570
 GRCh38
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI3114
 NA
 NA
 Autism
 NA
 NA
 30644082
 32151995
  1507914
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000003
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30438310
 32217725
  1779416
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527262
 32217725
  1690464
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000132
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000162
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32607357
  1944835
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000634
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30438310
 32569425
  2131116
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000899
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32607357
  2245684
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000917
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001056
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30438310
 32217725
  1779416
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001185
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527262
 32343758
  1816497
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001186
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527262
 32343758
  1816497
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001209
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527262
 32217725
  1690464
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001241
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32343758
  1982085
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001760
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30634533
 32121422
  1486890
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001845
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30592358
 32121422
  1529065
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001878
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30592358
 32121422
  1529065
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001882
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30634533
 32121422
  1486890
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001962
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30109224
 32606466
  2497243
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002193
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30109224
 32606466
  2497243
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002286
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30109224
 32149250
  2040027
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002490
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30822844
 32606466
  1783623
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002547
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 31317476
  955803
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002624
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32326182
  1964509
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002748
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32630901
  2269228
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003808
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003948
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32343758
  1681236
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003949
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30438110
 32607498
  2169389
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003954
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32607357
  2245684
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003995
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32222779
  1861106
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004027
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30614351
 32606466
  1992116
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004043
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004137
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32222779
  1861106
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004172
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527262
 32217725
  1690464
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004203
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32607357
  2245684
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004222
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30640878
 32222779
  1581902
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004225
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004407
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527262
 32343758
  1816497
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004429
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32343758
  1982085
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004433
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30640878
 32222779
  1581902
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004497
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30750713
 32217725
  1467013
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004513
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32607357
  2245684
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004571
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662323
 32217866
  1555544
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004599
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30750713
 32217725
  1467013
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004636
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004646
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32607357
  1944835
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004709
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004737
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004749
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361474
 32607498
  2246025
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004772
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527262
 32217725
  1690464
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004894
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662523
 32217725
  1555203
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004932
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30527062
 32217866
  1690805
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005001
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30438310
 32569425
  2131116
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005151
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32217725
  1856052
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005421
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30662323
 32217866
  1555544
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005425
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30361674
 32146742
  1785069
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case3016
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 30936285
 32514341
  1578057
 Unknown
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11928.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30626820
 32163337
  1536518
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13082.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30362292
 32625633
  2263342
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13301.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30362292
 32633108
  2270817
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13647.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30371097
 32159655
  1788559
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14063.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30904663
 30930671
  26009
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14531.p1
 N/A
 N/A
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: N/A
 
 30904663
 30959121
  54459
 GRCh38
 N/A
 Yes
  kushima_18_ASD_discovery_cases-caseASD0464
 21 yrs.
 F
 ASD, ID, epilepsy/seizures
 Developmental milestones: motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity, mood disorders. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: inguinal hernia. Family history: positive for bipolar disorder (BPD) and ASD.
 Mild intellectual disability
 30568981
 32318632
  1749652
 GRCh38
 Deletion
 N/A
  kushima_18_ASD_discovery_cases-caseASD0465
 19 yrs.
 M
 ASD, ADHD
 Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: ADHD. Congenital and developmental phenotypes: possible neonatal asphyxia. Family history: positive for bipolar disorder (BPD) and ASD.
 IQ > 70
 30568981
 32151126
  1582146
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0856
 69 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 30568981
 32151126
  1582146
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ1954
 33 yrs.
 M
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 19 years of age (core symptoms include hallucinations). Family history: negative.
 IQ > 70
 30506022
 32161746
  1655725
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ2059
 24 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 30325774
 32194551
  1868778
 GRCh38
 Deletion
 N/A
  leppa_16_ASD_discovery_cases-AU1208301
 N/A
 N/A
 ASD
 
 
 30644082
 32222725
  1578644
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU3197301
 N/A
 F
 ASD
 
 
 30641797
 32327799
  1686003
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU3197302
 N/A
 M
 ASD
 
 
 30641797
 32327799
  1686003
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU3197303
 N/A
 M
 ASD
 
 
 30641797
 32327799
  1686003
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11928.p1
 NA
 F
 ASD
 NA
 NA
 30784498
 32161842
  1377345
 GRCh38
 Duplication
 Yes
  mahjani_21_ASD_discovery_cases-case114
 NA
 F
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 30626839
 32222140
  1595302
 GRCh38
 Deletion
 No
  mahjani_21_ASD_discovery_cases-case145
 NA
 M
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 30644081
 32222140
  1578060
 GRCh38
 Deletion
 No
  mahjani_21_ASD_discovery_cases-case149
 NA
 M
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 30651308
 32222140
  1570833
 GRCh38
 Deletion
 No
  mahjani_21_ASD_discovery_cases-case151
 NA
 M
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 30644081
 32222140
  1578060
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown39
  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
 
 30722305
 31218660
  496356
 GRCh38
 Deletion
 No
  miller_09_ASD/DD/MR_discovery_cases-CHBpatient1
 8 yrs. 11 mo.
 M
 PDD-NOS
 Developmental delay, attention problems/ADHD, generally age appropriate receptive language, impaired expressive & written language, non-verbal learning disability, repetitive behavior, variable poor eye contact, impaired social interactions, self-stimulatory & self-injurious behaviors, behavioral issue, walking at 15 months, no history of seizures, abnormal EEG
 No mental retardation; DAS: verbal=97 (42nd centile); non-verbal=69 (2nd centile)
 30639641
 32326182
  1686542
 GRCh38
 Deletion
 Yes
  miller_09_ASD/DD/MR_discovery_cases-CHBpatient2
 3 yrs. 10 mo.
 F
 Developmental delay
 Referring diagnosis of language delay, no ASD (ADOS score 3/25) , attention problems/ADHD, severely impaired receptive and expressive language, no repetitive behavior, poor eye contact, behavioral issues, walking at 20 months, no history of seizures, normal EEG, focal cortical dysplasia on MRI
 No mental retardation; WPPSI-III FSIQ=91
 30639641
 32569426
  1929786
 GRCh38
 Deletion
 Yes
  miller_09_ASD/DD/MR_discovery_cases-CHBpatient3
 10 yrs. 9 mo.
 M
 Developmental delay
 Referring diagnosis of autistic spectrum, but no ASD; attention problems/ADHD, mildly impaired receptive and expressive language, age appropriate written language, no repetitive behavior, poor eye contact, impaired social interactions, no self-stimulatory behaviors, behavioral issues, walking at 18 months, no history of seizures, normal EEG
 No mental retardation; WISC-IV: verbal 93 (32nd centile), working memory 77 (6th centile), FSIQ=86 (18th centile)
 30629707
 32326182
  1696476
 GRCh38
 Deletion
 Yes
  miller_09_ASD/DD/MR_discovery_cases-CHBpatient4
 20 yrs. 9 mo.
 M
 PDD-NOS
 Developmental delay, ADHD, impaired receptive language, severely impaired expressive language, repetitive behaviors, poor eye contact, impaired social interactions, self-stimulatory & self-injurious behaviors, behavioral issues, walking at 24 months, no history of seizures, mildly abnormal EEG, normal MRI
 Mental retardation, Bayley FSIQ < 50
 30639641
 32218662
  1579022
 GRCh38
 Deletion
 Yes
  miller_09_ASD/DD/MR_discovery_cases-CHBpatient5
 5 yrs. 11 mo.
 M
 Developmental delay w/ autistic features
 Attention problems/ADHD, below average receptive & expressive language, delayed written language, hand flapping, variable poor eye contact, impaired social interactions, no self-stimulatory or self-injurious behaviors, behavioral issues, walking at 18 months, no history of seizures, EEG & MRI not done
 No mental retardation; WPPSI-III: verbal 72 (3rd centile), perceptual reasoning 75 (5th centile)
 30527262
 32153051
  1625790
 GRCh38
 Deletion
 Yes
  miller_09_ASD/DD/MR_discovery_cases-CHBpatient6
 20
 M
 Autism/ASD
 Developmental delay, severely impaired receptive & expressive language, repetitive behavior, variable poor eye contact, impaired social interactions, self-stimulatory and self-injurious behaviors, behavioral issue, walking at 12 months, no history of seizures, normal EEG & MRI
 Mental retardation, FSIQ < 50
 30639641
 32621939
  1982299
 GRCh38
 Duplication
 Yes
  miller_09_ASD/DD/MR_discovery_cases-CHBpatient7
 2 yrs. 10 mo.
 F
 Developmental delay
 Referring diagnosis of language delay, no ASD, borderline average receptive language, below average expressive language, repetitive behavior, poor eye contact, no self-stimulatory behaviors, behavioral issues, info on social interactions & self-injurious behaviors not available, walking at 23 months, no history of seizures, EEG & MRI not done
 No mental retardation, cognitive testing not performed
 30639641
 32218662
  1579022
 GRCh38
 Duplication
 Yes
  miller_09_ASD_replication_cases-AGREpatient10
 NA
 M
 Autism/ASD
 Not available
 Not available
 30822844
 31325108
  502265
 GRCh38
 Duplication
 Yes
  miller_09_ASD_replication_cases-AGREpatient8
 8
 M
 Autism/ASD
 Developmental delay, severely impaired receptive & expressive language, additional information not available
 Not tested for mental retardation, cognitive testing NA
 30639641
 32569425
  1929785
 GRCh38
 Duplication
 Yes
  miller_09_ASD_replication_cases-AGREpatient9
 NA
 M
 Autism/ASD
 Not available
 Not available
 30822844
 31325108
  502265
 GRCh38
 Duplication
 Yes
  moreira_14_ASD/EP_discovery_cases-case1
 11 yrs.
 M
 ASD and epilepsy
 Language and communication evaluation: absent speech. Epilepsy/seizures: yes. Dysmorphic features: bulbous nose. Growth parameters: height of 137 cm (10th-25th %ile), weight of 56 kg (97th %ile), and head circumference of 56 cm (98th %ile).
 
 30649369
 32217725
  1568357
 GRCh38
 Deletion
 Yes
  o'roak_12_ASD_discovery_cases-case11928.p1
 NA
 F
 ASD/Autism
 No additional clinical info available.
 Low IQ. Non verbal IQ, 66
 30633489
 32223772
  1590284
 GRCh38
 Duplication
 Yes
  pfundt_16_nonNDD_discovery_cases-case72
 N/A
 N/A
 Non-NDD
 Disease cohort: movement disorder. Description: 15q13.3 microdeletion syndrome
 
 30142313
 32533742
  2391430
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case14167_2720
 NA
 M
 Autism
 Phrase speech delay, no epilepsy, no dysmorphic features; 15q13.3 microdeletion syndrome
 Mild MR
 30626045
 32356670
  1730626
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case16040_1571029001
 7 yrs. 2 mos.
 M
 ASD
 Autism (ADI-R and ADOS positive), no language delay (first words 13 mo, first phrases 18 mo), lost language, now verbal. Family history: both parents unaffected; sibling with PDD-NOS (not tested).
 ID (Vineland at 7 y 2 mo: Communication 35, Daily Living Skills 29, Socialization 51, Adaptive Behavior Composite 35)
 30370928
 32223772
  1852845
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case18100_302
 N/A
 M
 ASD
 Autism (based on ADI-R and ADOS), language regression at 21 mo associated with illness (fever), single words at 42 mo, phrases at 54 mo; hand/finger mannerisms, toe-walking, sensory abnormalities, 1 febrile seizure at 3-4 y (AGRE ID: AU1802302), Family history: brother and sister with autism (both with CNV); father received speech and language therapy and had difficulty learning to read; father's brother has children with autism; mother has hearing issues.
 Normal IQ (Raven NVIQ 129), PPVT standard score 77 (vocabulary functioning in the moderately low range)
 30635007
 32223772
  1588766
 GRCh38
 Deletion
 Yes
  qiao_12_ASD_discovery_cases-case10-03A
 6 yrs. 1 mo.
 M
 ASD
 High-functioning ASD. Early neuromotor delays, complex partial epilepsy, right temporal epileptiform foci on EEG, nondysmorphic apart from slightly broad forehead, mild malar hypoplasia, small ears (length <2nd%ile), 2-3 syndactyly of long toes, digital phalangeal hyperextensibility. Normal growth parameters, opthalmology and audiology assessments.
 NA
 28751558
 30232535
  1481000
 Unknown
 Deletion
 Yes
  quintela_17_DD/ID_discovery_cases-caseID_195
 5 mos.
 M
 Developmental delay
 Hypotonia, feeding problems
 Global developmental delay
 30094195
 32154629
  2060435
 GRCh38
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_283
 5 yrs.
 M
 Intellectual disability and ADHD
 ADHD, epicanthus, pes planus.
 Intellectual disability
 30781532
 32622038
  1840507
 GRCh38
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_325
 15 yrs.
 M
 Intellectual disability
 Short stature. CNV inherited from unaffected parent.
 Intellectual disability
 30077814
 32152060
  2074247
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_376
 2 yrs.
 M
 Developmental delay
 Dysmorphic facial features
 Mild global developmental delay
 30781532
 32151843
  1370312
 GRCh38
 Duplication
 No
  reinthaler_14_EP_discovery_cases-caseAVRE15
 N/A
 N/A
 Epilepsy
 Epilepsy phenotype: atypical rolandic epilepsy.
 
 30607797
 32207799
  1600003
 GRCh38
 Deletion
 No
  rosenfeld_10_ASD_discovery_cases-case28300
 NA
 NA
 ASD
 NA
 NA
 28741817
 30226375
  1484558
 Unknown
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11928.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 30644082
 32159287
  1515206
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-13082.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
 30644082
 32381315
  1737234
 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
 30635007
 32268819
  1633813
 GRCh38
 Deletion
 Yes
  shen_10_ASD_discovery_cases-ASD-09-060
 NA
 M
 PDD-NOS
 NA
 NA
 30639641
 32326182
  1686542
 GRCh38
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-061
 NA
 M
 ASD
 NA
 NA
 30639641
 32621939
  1982299
 GRCh38
 Duplication
 No
  shen_10_ASD_discovery_cases-ASD-09-062
 NA
 M
 ASD
 NA
 NA
 30639641
 32621939
  1982299
 GRCh38
 Duplication
 No
  shen_10_ASD_discovery_cases-ASD-09-063
 NA
 F
 PDD-NOS
 NA
 NA
 30639641
 32218662
  1579022
 GRCh38
 Deletion
 No
  wang_18_TS_discovery_cases-case25013.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 1 cohort; no additional clinical information available
 
 30372932
 32168465
  1795534
 GRCh38
 Duplication
 No
  wolfe_16_ID_discovery_cases-DECIPHER327137
 25 yrs.
 M
 Intellectual disability
 Psychiatric history: autistic traits. Mini PAS-ADD evaluation: none met. BPI-S evaluation: any self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: type II diabetes. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 173 cm, head circumference 60 cm. Ethnicity: white (British).
 Mild intellectual disability
 30168987
 32512009
  2343023
 GRCh38
 Deletion
 Yes
  xu_16_ASD/DD/ID_discovery_cases-case7
 N/A
 N/A
 Developmental delay
 Primary diagnosis of developmental delay based on DQ scores. Note: CNV coordinates in this report given as RP11-38E12 (chr15:28,163,661-30,624,095,hg17)->RP11-164K24 (chr15:29,207,890-29,366,808,hg17)
 
 N/A
 N/A
  900000
 NCBI35
 Deletion
 No
  yap_21_ASD_discovery_cases-case1101365
 NA
 M
 ASD and epilepsy/seizures
 Language delay (16th percentile), history of seizures, recurrent tonsilitis, parents report flat spot on back of head that never went away, head circumference 50-98th %ile
 
 30823022
 32222899
  1399878
 GRCh38
 Deletion
 No
  yap_21_ASD_discovery_cases-case1101486
 NA
 M
 ASD and epilepsy/seizures
 MSEL 6th %ile (composite score 77), delayed onset of fluent speech, history of seizures, macrocephaly (head circumference >98th %ile).
 
 30715697
 32222899
  1507203
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-case1-0597-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 30625797
 32605799
  1980003
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-1436-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: vascular cluster on her shoulder, blood infection at birth, eye problems
 
 30625298
 32191799
  1566502
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case5-0008-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 30549798
 32197299
  1647502
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-caseAU3985301
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 30588298
 32153299
  1565002
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-caseAU3985302
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 30588298
 32153399
  1565102
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-caseAU4128304
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 30557798
 32233799
  1676002
 GRCh38
 Deletion
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0597-003
  NA NA
 N/A
 F
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 30094196
 32152072
  2057877
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0761-005
  NA NA
 N/A
 F
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 30082166
 32154641
  2072476
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0008-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 30621383
 32154629
  1533247
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case9-0041-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 30621383
 32154641
  1533259
 GRCh38
 Deletion
 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
  engchuan_15_ASD_discovery_controls-controlHABC_900744_900744
  N/A
  N/A
  Control
  No previous psychiatric history
 
  30644082
  32152794
  1508713
  GRCh38
  Duplication
  No
  girirajan_12_ASD/DD/ID_discovery_controls-control23
  NA
  NA
  Control
  NA
  NA
  30840505
  32190507
  1350003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control24
  NA
  NA
  Control
  NA
  NA
  30840505
  32190507
  1350003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control25
  NA
  NA
  Control
  NA
  NA
  30840505
  32190507
  1350003
  GRCh38
  Duplication
  NA
  kaminsky_11_DD/ID/ASD_discovery_controls-control0062
  NA
  NA
  Control
  Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
  NA
  30844901
  32153207
  1308307
  GRCh38
  Duplication
  No
  kaminsky_11_DD/ID/ASD_discovery_controls-control0063
  NA
  NA
  Control
  Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
  NA
  30844901
  32153207
  1308307
  GRCh38
  Duplication
  No
  kaminsky_11_DD/ID/ASD_discovery_controls-control0064
  NA
  NA
  Control
  Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
  NA
  30844901
  32153207
  1308307
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control14063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30635486
  30937256
  301771
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C35546A
  N/A
  F
  Control
  NIMH Control (NIMH ID 59863)
 
  30904662
  30958951
  54290
  GRCh38
  Duplication
  No
  reinthaler_14_EP_discovery_controls-control10
  N/A
  N/A
  Control
  Control
 
  30607797
  32207799
  1600003
  GRCh38
  Duplication
  No
  reinthaler_14_EP_discovery_controls-control9
  N/A
  N/A
  Control
  Control
 
  30607797
  32207799
  1600003
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 annunziata_21_ASD_discovery_cases-caseIB393
 qPCR, FISH
 
 De novo
 Simplex
 Segregated
 CHRNA7,KLF13,MTMR10,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,GOLGA8UP,LINC02352,RN7SL82P,RNU6-466P,FAN1
 
 battaglia_13_DD/ID/ASD_discovery_cases-case12
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 battaglia_13_DD/ID/ASD_discovery_cases-case36
 FISH or qPCR
 Maternal
 Maternal
 Possible multi-generational
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
 
 brandler_18_ASD_discovery_cases-caseREACH000083
 SNP VCF
 
 De novo
 
 
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 bremer_11_ASD_discovery_cases-case3
 MLPA, FISH
 
 Unknown
 NA
 NA
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 chaves_19_ASD/DD/ID_discovery_cases-case77
 
 
 Unknown
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 chen_16_ASD/DD/ID/EP_discovery_cases-case1
 FISH
 
 De novo, maternal chromosome
 Simplex
 Likely segregated
 DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 christofolini_12_ASD_discovery_cases-case1
 
 
 De novo (maternal chromosome)
 Simplex
 Likely segregated
 RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,GOLGA8R
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299881
 qPCR
 
 Paternal
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299968
 qPCR
 
 Unknown
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300628
 qPCR
 
 Unknown
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 du_21_ASD/DD/ID_discovery_cases-case283
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,CHRFAM7A,ARHGAP11B,ULK4P1,OTUD7A,UBE2CP4,HERC2P10,MIR211,DNM1P31,GOLGA8Q,GOLGA8O,GOLGA8H,GOLGA8K,DEPDC1P1,TRPM1,DNM1P32,ULK4P2,GOLGA8UP,LINC02256,DNM1P50,GOLGA8R,LINC02352,ARHGAP11B-DT,RN7SL185P,RN7SL196P,RNU6-18P,RN7SL539P,RN7SL628P,RN7SL82P,RNU6-466P,RN7SL796P,FAN1
 
 du_21_ASD/DD/ID_discovery_cases-case361
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,ARHGAP11B,OTUD7A,UBE2CP4,HERC2P10,MIR211,GOLGA8Q,GOLGA8H,DEPDC1P1,TRPM1,ULK4P2,GOLGA8UP,DNM1P50,LINC02352,ARHGAP11B-DT,RN7SL628P,RN7SL82P,RNU6-466P,RN7SL796P,FAN1
 
 du_21_ASD/DD/ID_discovery_cases-case506
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,ARHGAP11B,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,GOLGA8UP,LINC02352,RN7SL82P,RNU6-466P,FAN1
 
 egle_16_DD/ID_discovery_cases-case5_1
 FISH or RT-PCR
 
 Maternal
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 engchuan_15_ASD_discovery_cases-case14167_2720
 
 
 Unknown
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 engchuan_15_ASD_discovery_cases-case16040_1571029001
 
 
 De novo
 
 
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 engchuan_15_ASD_discovery_cases-case18100_302
 
 
 Unknown
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 engchuan_15_ASD_discovery_cases-case8467_202
 
 
 Unknown
 
 
 RNU6-466P,MIR211,HERC2P10,MTMR10,FAN1,TRPM1
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258866
 
 
 De novo
 Multi-generational
 Not segregated
 GOLGA8J,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,GOLGA8R
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259348
 
 
 Paternal
 Multiplex
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,FAN1,TRPM1,OTUD7A,CHRNA7
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260823
 
 Both parents
 Maternal
 Multi-generational
 Not segregated
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,GOLGA8R
 
 gannon_11_ASD/DD_discovery_cases-patientP
 
 
 Unknown
 Unknown
 
 NA
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient16
 MLPA
 
 Paternal
 Multi-generational
 Not segregated or incomplete segregation
 GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0575
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0576
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0577
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0578
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0579
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0580
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0581
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0582
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0583
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0584
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0585
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0586
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0587
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0588
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0589
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0590
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0591
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0592
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0593
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0594
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0595
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0596
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0597
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0598
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0599
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0600
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0601
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0602
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0603
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0604
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0605
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0606
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0607
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0608
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0609
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0610
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0611
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0612
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0613
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0614
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0615
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0616
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0617
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0618
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0619
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0620
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0621
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0622
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0623
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0624
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0625
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0626
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0627
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0628
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0629
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0630
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0631
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0632
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0633
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0634
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0635
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0636
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0637
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0638
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0639
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0640
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0641
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0642
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0643
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0644
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0645
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0646
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0647
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0648
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0649
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0650
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0651
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0652
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0653
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0654
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0655
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0656
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0657
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0658
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0659
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0660
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0661
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0662
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0663
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0664
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0665
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0666
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0667
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0668
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0669
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0670
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0671
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0672
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0673
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0674
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0675
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0676
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0677
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0678
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0679
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0680
 NA
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case23858
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case26112
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case39259
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case52609
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case55326
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case63335
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_ASD_discovery_cases-13301.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_ASD_discovery_cases-13647.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_ASD_discovery_cases-AU1802301
 
 
 Unknown
 Multiplex
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase162
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase163
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase164
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase165
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase166
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase167
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase168
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase169
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase170
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase171
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase172
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase173
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase174
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase175
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase176
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase177
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase178
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase179
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase180
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase181
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase182
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase183
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase184
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase185
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase186
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase187
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase188
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase189
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase190
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase191
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase192
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase193
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase194
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase195
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase196
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase197
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase198
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase199
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase200
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase201
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase202
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13a_DD_discovery_cases-DDcase203
 
 
 Unknown
 
 
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 girirajan_13b_ASD_discovery_cases-9106105625
 aCGH (Agilent hotspot 2x400K)
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 hnoonual_17_ASD_discovery_cases-caseAR83-3
 
 
 Maternal
 
 
 GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 itsara_10_ASD_discovery_cases-HI3114
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000003
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000132
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000162
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000634
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000899
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000917
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001056
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001185
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001186
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001209
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001241
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001760
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001845
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001878
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001882
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001962
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002193
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002286
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002490
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002547
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,FAN1,TRPM1,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002624
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002748
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003808
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003948
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003949
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003954
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003995
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004027
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004043
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004137
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004172
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004203
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004222
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004225
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004407
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004429
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004433
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004497
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004513
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004571
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004599
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004636
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004646
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004709
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004737
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004749
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004772
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004894
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004932
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005001
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005151
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005421
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005425
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 kanduri_15_ASD_discovery_cases-case3016
 
 
 Maternal
 Unknown
 Unknown
 CHRNA7,FAN1,KLF13,LOC283710,MTMR10,OTUD7A,TRPM1
 
 krumm_15_ASD_discovery_cases-case11928.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 krumm_15_ASD_discovery_cases-case13082.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,GOLGA8R
 
 krumm_15_ASD_discovery_cases-case13301.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,GOLGA8R
 
 krumm_15_ASD_discovery_cases-case13647.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 krumm_15_ASD_discovery_cases-case14063.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FAN1
 
 krumm_15_ASD_discovery_cases-case14531.p1
 aCGH
 
 De novo
 Simplex
 Likely segregated
 RNU6-466P,MTMR10,FAN1
 
 kushima_18_ASD_discovery_cases-caseASD0464
 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
 Not simplex
 Unknown
 DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kushima_18_ASD_discovery_cases-caseASD0465
 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
 Not simplex
 Unknown
 DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kushima_18_SCZ_discovery_cases-caseSCZ0856
 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
 DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kushima_18_SCZ_discovery_cases-caseSCZ1954
 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
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kushima_18_SCZ_discovery_cases-caseSCZ2059
 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
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 leppa_16_ASD_discovery_cases-AU1208301
 qPCR
 
 De novo
 Multiplex
 Not segregated (CNV not present in affected sibling)
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 leppa_16_ASD_discovery_cases-AU3197301
 
 
 Maternal
 Multiplex
 Segregated (CNV present in all three affected siblings)
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 leppa_16_ASD_discovery_cases-AU3197302
 
 
 Maternal
 Multiplex
 Segregated (CNV present in all three affected siblings)
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 leppa_16_ASD_discovery_cases-AU3197303
 
 
 Maternal
 Multiplex
 Segregated (CNV present in all three affected siblings)
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 levy_11_ASD_discovery_cases-11928.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 mahjani_21_ASD_discovery_cases-case114
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,ARHGAP11B,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,GOLGA8UP,LINC02352,RN7SL82P,RNU6-466P,FAN1
 
 mahjani_21_ASD_discovery_cases-case145
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,ARHGAP11B,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,GOLGA8UP,LINC02352,RN7SL82P,RNU6-466P,FAN1
 
 mahjani_21_ASD_discovery_cases-case149
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,GOLGA8UP,LINC02352,RN7SL82P,RNU6-466P,FAN1
 
 mahjani_21_ASD_discovery_cases-case151
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,ARHGAP11B,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,GOLGA8UP,LINC02352,RN7SL82P,RNU6-466P,FAN1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown39
 
 
 Unknown
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,HERC2P10,MTMR10,FAN1,TRPM1
 
 miller_09_ASD/DD/MR_discovery_cases-CHBpatient1
 MLPA or FISH
 
 Maternal
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 miller_09_ASD/DD/MR_discovery_cases-CHBpatient2
 MLPA or FISH
 
 Maternal
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,FAN1,TRPM1,OTUD7A,CHRNA7
 
 miller_09_ASD/DD/MR_discovery_cases-CHBpatient3
 MLPA or FISH
 
 Unknown
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 miller_09_ASD/DD/MR_discovery_cases-CHBpatient4
 MLPA or FISH
 
 Unknown
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 miller_09_ASD/DD/MR_discovery_cases-CHBpatient5
 MLPA or FISH
 
 Unknown
 NA
 NA
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 miller_09_ASD/DD/MR_discovery_cases-CHBpatient6
 MLPA or FISH
 
 De novo
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
 
 miller_09_ASD/DD/MR_discovery_cases-CHBpatient7
 MLPA or FISH
 
 Maternal
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 miller_09_ASD_replication_cases-AGREpatient10
 aCGH or MLPA
 
 Maternal
 Multiplex
 NA
 RNU6-466P,MIR211,LINC02352,HERC2P10,MTMR10,FAN1,TRPM1
 
 miller_09_ASD_replication_cases-AGREpatient8
 aCGH or MLPA
 
 De novo
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,FAN1,TRPM1,OTUD7A,CHRNA7
 
 miller_09_ASD_replication_cases-AGREpatient9
 aCGH or MLPA
 
 Maternal
 Multiplex
 NA
 RNU6-466P,MIR211,LINC02352,HERC2P10,MTMR10,FAN1,TRPM1
 
 moreira_14_ASD/EP_discovery_cases-case1
 Array SNP
 
 De novo
 Unknown
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 o'roak_12_ASD_discovery_cases-case11928.p1
 aCGH, Sanger sequencing
 
 De novo
 Simplex (quad)
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 pfundt_16_nonNDD_discovery_cases-case72
 
 
 
 
 
 GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 pinto_10_ASD_discovery_cases-case14167_2720
 qPCR-Paternal
 
 paternal
 Simplex
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 pinto_14_ASD_discovery_cases2-case16040_1571029001
 qPCR
 
 De novo
 Multiplex
 Likely not segregated (sibling with PDD-NOS, not tested)
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 pinto_14_ASD_discovery_cases2-case18100_302
 qPCR
 Possibly paternal
 Paternal
 Multiplex
 Segregated (CNV also present in brother and sister with autism)
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 qiao_12_ASD_discovery_cases-case10-03A
 QMPSF
 
 Unknown (not maternal)
 Simplex
 Unknown
 FAN1,MTMR10,TRPM1,LOC283710,KLF13,OTUD7A,CHRNA7
 
 quintela_17_DD/ID_discovery_cases-caseID_195
 
 
 De novo
 
 Possibly segregated
 DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 quintela_17_DD/ID_discovery_cases-caseID_283
 
 
 Unknown
 
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
 
 quintela_17_DD/ID_discovery_cases-caseID_325
 
 
 Paternal
 
 Unknown
 GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 quintela_17_DD/ID_discovery_cases-caseID_376
 
 
 Unknown
 
 Unknown
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 reinthaler_14_EP_discovery_cases-caseAVRE15
 
 
 Unknown
 Unknown
 Unknown
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 rosenfeld_10_ASD_discovery_cases-case28300
 FISH
 
 Unknown
 Unknown
 Unknown
 FAN1,MTMR10,TRPM1,LOC283710,KLF13,OTUD7A,CHRNA7
 
 sanders_11_ASD_discovery_cases-11928.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 sanders_11_ASD_discovery_cases-13082.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 sanders_11_ASD_discovery_cases-13301.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 shen_10_ASD_discovery_cases-ASD-09-060
 
 
 Maternal
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 shen_10_ASD_discovery_cases-ASD-09-061
 
 
 De novo
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
 
 shen_10_ASD_discovery_cases-ASD-09-062
 
 
 De novo
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
 
 shen_10_ASD_discovery_cases-ASD-09-063
 
 
 Unknown
 NA
 NA
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 wang_18_TS_discovery_cases-case25013.p1
 Validation failed
 
 De novo
 
 
 RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 wolfe_16_ID_discovery_cases-DECIPHER327137
 qPCR, FISH, or QF-PCR
 
 Unknown
 Unknown
 Unknown
 RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 xu_16_ASD/DD/ID_discovery_cases-case7
 
 
 Maternal
 
 
 CNV gene content N/A (CNV start and end points N/A)
 
 yap_21_ASD_discovery_cases-case1101365
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,LINC02352,RNU6-466P,FAN1
 
 yap_21_ASD_discovery_cases-case1101486
 
 
 Unknown
 
 
 CHRNA7,KLF13,MTMR10,OTUD7A,UBE2CP4,HERC2P10,MIR211,DEPDC1P1,TRPM1,GOLGA8UP,LINC02352,RN7SL82P,RNU6-466P,FAN1
 
 yuen_17_ASD_discovery_cases-case1-0597-003
 Affymetrix CytoScan HD
 
 De novo
 Simplex
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7
 
 yuen_17_ASD_discovery_cases-case2-1436-003
 Illumina OMNI 2.5M
 
 Putative De novo
 Simplex
 Possibly segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 yuen_17_ASD_discovery_cases-case5-0008-003
 Affymetrix CytoScan HD
 
 Unknown
 Simplex
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 yuen_17_ASD_discovery_cases-caseAU3985301
 Not available
 
 Unknown
 Multiplex
 Unknown
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 yuen_17_ASD_discovery_cases-caseAU3985302
 Not available
 
 Unknown
 Multiplex
 Unknown
 RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 yuen_17_ASD_discovery_cases-caseAU4128304
 Not available
 
 Unknown
 Simplex
 Unknown
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0597-003
 RT-qPCR or WGS
 
 Unknown
 
 
 DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,HERC2P10,MTMR10,KLF13,ARHGAP11B,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0761-005
 RT-qPCR or WGS
 
 Unknown
 
 
 GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,HERC2P10,MTMR10,KLF13,ARHGAP11B,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0008-003
 RT-qPCR or WGS
 
 Unknown
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,ARHGAP11B,FAN1,TRPM1,OTUD7A,CHRNA7
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case9-0041-003
 RT-qPCR or WGS
 
 Paternal
 
 
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,ARHGAP11B,FAN1,TRPM1,OTUD7A,CHRNA7
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900744_900744
 
 
  Unknown
 
 
  GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control23
  NA
 
  Unknown
  Unknown
  Unknown
  RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control24
  NA
 
  Unknown
  Unknown
  Unknown
  RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control25
  NA
 
  Unknown
  Unknown
  Unknown
  RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
kaminsky_11_DD/ID/ASD_discovery_controls-control0062
 
 
  Unknown
 
 
  RNU6-466P,MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
kaminsky_11_DD/ID/ASD_discovery_controls-control0063
 
 
  Unknown
 
 
  RNU6-466P,MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
kaminsky_11_DD/ID/ASD_discovery_controls-control0064
 
 
  Unknown
 
 
  RNU6-466P,MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
krumm_15_ASD_discovery_controls-control14063.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GOLGA8UP,RN7SL82P,ARHGAP11B,HERC2P10,FAN1
 
poultney_13_ASD_discovery_controls-control04C35546A
 
 
  Unknown
 
 
  RNU6-466P,MTMR10,FAN1
 
reinthaler_14_EP_discovery_controls-control10
 
 
  Unknown
 
 
  RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
reinthaler_14_EP_discovery_controls-control9
 
 
  Unknown
 
 
  RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 

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