HELP     Sign In

15q13.3CNV Type: Deletion-Duplication


Largest CNV size: 2000000 bp

Statistics Box:
Number of Reports: 71



Summary Information

Individuals with microdeletions at this locus 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

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
A 15q13.3 microdeletion segregating with autism.
Deletion
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
High rate of disease-related copy number variations in childhood onset schizophrenia.
Deletion
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Case report: Neuronal migration disorder associated with chromosome 15q13.3 duplication in a boy with autism and seizures.
Duplication
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Deletion
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Duplication
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion-Duplication
NA
Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Duplication
Outfoxed by RBFOX1-a caution about ascertainment bias.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion-Duplication
15q13.3 duplication in two patients with childhood-onset schizophrenia.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Duplication
NA
Duplication
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
NA
Duplication
NA
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Comorbidities associated with genetic abnormalities in children with intellectual disability
Duplication
Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahn_13_SCZ_discovery_cases
 Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
 126
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
 N/A
 N/A
 475000
 2
 0
 2
 bacchelli_15_ASD_discovery_cases
 ASD cases screened for 15q13.3 CNVs from 133 families recruited at the Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry (Calambrone, Pisa, Italy)
 135
 ASD diagnosis based on ADI-R and ADOS
 N/A
 N/A
 500000
 0
 1
 1
 bartnik_12_EP_discovery_cases
 102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
 102
 Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
 NA
 NA
 108000
 0
 1
 1
 beal_13_ASD_discovery_cases
 4-year-old male patient born to parents with no family history of seizures, autism, mental retardation, or other neurological impairments.
 1
 Case presented with autism, speech delay, and epilepsy/seizures
 4 yrs.
 Male
 500000
 0
 1
 1
 ben-shacher_09_ASD_discovery_cases
 Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
 N/A
 ASD
 
 
 1600000
 5
 0
 5
 ben-shacher_09_combined_discovery_cases
 Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
 8200
 Developmental delay, mental retardation, dysmorphic features, congenital anomalies, ASD, or general suspicion of a chromosomal anomaly
 
 
 1600000
 13
 0
 13
 ben-shacher_09_non-ASD_discovery_cases
 Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
 N/A
 Developmental delay, mental retardation, dysmorphic features, congenital anomalies, or general suspicion of a chromosomal anomaly
 
 
 1600000
 8
 0
 8
 bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
 Unrelated Tourette syndrome (TS) patients recruited through the Herlev Tourette Clinic (Denmark)
 188
 Tourette syndrome (TS) with additional comorbidities, including ADHD, OCD, and ASD
 N/A
 81.91% Male
 420000
 0
 1
 1
 budisteanu_21_ASD/DD/ID_discovery_cases
  NA NA
 Patients with 15q13.3 duplications referred to Pediatric Neurology and Child and Adolescent Psychiatry Departments.
 5
 All five cases diagnosed with autism spectrum disorder according to DSM-5 criteria (diagnosis confirmed by ADOS for three patients and ADI-R for two patients); developmental delay/intellectual disability was also observed in all five individuals.
 Range, 2 yrs. 4 mos.-15 yrs.
 80% Male
 537284
 0
 5
 5
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 16891
 1
 0
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 400000
 1
 1
 2
 chen_21_ASD/DD/ID_discovery_cases
 Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
 61
 Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
 Range, 3-18 yrs. (median, 6 yrs.)
 60.7% Male
 419241
 0
 1
 1
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 489130
 0
 1
 1
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 372000
 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
 489000
 0
 5
 5
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 445000
 1
 0
 1
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 16497
 2
 0
 2
 firouzabadi_16_ASD_discovery_cases
 Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
 15
 ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
 N/A
 N/A
 445000
 0
 1
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 853498
 0
 1
 1
 fry_16_DD/ID/EP/ASD_discovery_cases
 Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
 80
 All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
 Range, <1 yr.-60 yrs.
 45.0% Male
 494000
 0
 2
 2
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 24402
 0
 1
 1
 ghasemi_firouzabadi_16_ASD_discovery_cases
 Sporadic Iranian ASD cases with no family history of ASD
 50
 Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features
 N/A
 N/A
 N/A
 0
 1
 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
 441000
 0
 16
 16
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 436756
 0
 3
 3
 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
 
 
 440000
 7
 130
 137
 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
 36303
 5
 0
 5
 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
 615181
 0
 3
 3
 gorker_18_ASD_discovery_cases
  NA NA
 Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
 53
 All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
 Mean age, 9.2 years
 74.0% Male
 328199
 0
 1
 1
 handrigan_13_ASD/DD/ID_discovery_cases
 Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
 35
 22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
 Range, 0 mos.-20 yrs.
 48.57% Male
 409512
 1
 0
 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
 25000
 1
 0
 1
 hoppman-chaney_12_CHRNA7_discovery_cases
 Probands from a database of >15,000 patients tested in the Mayo Clinic Cytogenetics Laboratory from 2008-2011.
 10
 Developmental delay, intellectual disability, ASD, ADHD, and/or other non-neuropsychiatric features
 Range, 5 weeks-7 years
 90% Male
 NA
 10
 0
 10
 kamien_14_ASD_discovery_cases
 Three patients with RBFOX1 CNVs seen in clinical genetics unit (New South Wales, Australia)
 3
 All three cases met DSM-IV-TR criteria for ASD (autistic disorder in two cases, PDD-NOS in one case).
 Range, 5-9 yrs.
 66.67% Male
 444000
 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
 537289
 2
 8
 10
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 81000
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 81000
 0
 7
 7
 leblond_12_ASD_discovery_cases
 ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
 260
 171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
 
 74.6% Male
 496055
 0
 1
 1
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 495448
 0
 1
 1
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 466297
 0
 3
 3
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 444868
 0
 1
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 61250
 0
 1
 1
 li_18_ASD_discovery_cases
 Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
 13
 Diagnosis of ASD made according to DSM-IV
 Mean age, 4.56 0.97 years
 92.31% Male
 484088
 0
 1
 1
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases
 Adults with 15q13.3 deletions; one case from a cohort of 459 adults with schizophrenia (case 1); two adult probands from a collection of 11,150 clinical samples submitted for clinical microarray at the Hospital for Sick Children (cases 5 and 7); and a sample submitted to the Hospital for Sick Children for parental testing following the birth of an affected child (case 6).
 4
 All four cases present with some degree of developmental delay/intellectual disability or learning disability. Additional diagnoses/phenotypes include schizophrenia (n=1), epilepsy (n=1), ADHD (n=1), major depression (n=2), and anxiety (n=2).
 Range, 39-65 yrs.
 Female
 1690000
 3
 0
 3
 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
 489000
 0
 2
 2
 meganathan_21_ASD/ADHD/DD_discovery_cases
 8-year-old male proband with a maternally-inherited 15q13.3 duplication from a family with an unaffected mother with self-reported traits of depression and anxiety disorder and ADHD and an affected brother with pervasive developmental delay, depression and anxiety disorder, developmental delay, nonverbal communication problems, speech/language delay, ADHD, autistic traits, and mood disorder who al
 1
 Proband diagnosed with ASD, ADHD, depression and anxiety disorder and presented with developmental delay.
 8 yrs.
 Male
 424130
 0
 1
 1
 melchior_13_TS/ADHD/OCD_discovery_cases
 Three affected brothers from a family with Tourette syndrome and comorbidities
 3
 Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria in all three cases; two cases with additional diagnoses of OCD, one case with additional diagnosis of ADHD
 N/A
 Male
 433000
 0
 1
 1
 mikhail_11_DD/ID_discovery_cases
 Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
 1200
 Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
 NA
 NA
 537000
 1
 0
 1
 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
 555000
 0
 2
 2
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 489130
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 39198
 1
 0
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 824800
 1
 1
 2
 pagnamenta_09_ASD_discovery_cases
 Autism Genome Project (AGP) cohort of 525 probands and their parents. Multiplex:simplex ratio of 2:1.
 525
 ASD
 
 83.3% Male
 2000000
 1
 0
 1
 pagnamenta_09_ASD_proband_family_cases
 Half-siblings of CNV-positive proband from discovery case cohort
 2
 ASD
 
 100% Male
 2000000
 2
 0
 2
 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
 
 
 540422
 0
 4
 4
 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
 510730
 0
 2
 2
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 81004
 2
 3
 5
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 36304
 2
 0
 2
 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
 443294
 0
 6
 6
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 548000
 0
 1
 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
 
 
 395473
 3
 1
 4
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 8
 1
 9
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 486123
 0
 5
 5
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 3173
 0
 1
 1
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 445000
 0
 2
 2
 shin_15_ASD/DD/ID_discovery_cases
 Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
 96
 34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
 N/A
 69.8% Male
 444000
 0
 1
 1
 soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases
 Affected family members in three generations affected with various neuropsychiatric phenotypes and cognitive impairment
 4
 Two twin brothers (III-2 and III-3) diagnosed with PDD-NOS, anxiety disorder, dysthymia, and borderline intellectual functioning; their mother (II-3) with a history of developmental delay and diagnosed with bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; and their maternal grandfather (I-1), whose clinical information was significant for alcoholism, drug addiction, and abusive behaviors to family members.
 Range, 10 yrs.-N/A
 75% Male
 650400
 0
 8
 8
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 26245
 0
 1
 1
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 273113
 0
 1
 1
 van_den_bossche_12_BPD_discovery_cases
 Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 676
 Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 229000
 0
 2
 2
 van_den_bossche_12_ID_discovery_cases
 Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
 260
 Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
 NA
 NA
 1071000
 1
 2
 3
 van_den_bossche_12_MDD_discovery_cases
 Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 169
 Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 229000
 0
 2
 2
 van_den_bossche_12_SCZ_discovery_cases
 Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 1281
 Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 1071000
 1
 6
 7
 wisniowiecka-kowalnik_12_ASD_discovery_cases
 ASD patients from 132 simplex and 13 multiplex families of Polish descent
 145
 Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
 Range, 3-26 yrs.
 84.83% Male
 200000
 0
 1
 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
 2370000
 1
 0
 1
 yingjun_17_ASD_discovery_cases
 ASD probands referred to the Clinical Genetics Service for genetic testing
 64
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 N/A
 N/A
 440507
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 400388
 0
 1
 1
 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
 440507
 1
 0
 1
 zhou_16_SCZ_discovery_cases
 Probands diangosed with childhood-onset schizophrenia recruited nationally as part of an ongoing longitudinal study
 136
 Childhood-onset schizophrenia (SCZ); probands met criteria for schizophrenia in the DSM-IIIR/DSM-IV before the age of 13 years.
 N/A
 N/A
 600200
 0
 2
 2
 zhou_19_ASD_discovery_cases
 ASD probands from families recruited from training centers in Beijing and Tsingdao, China
 539
 Cases were diagnosed for ASD by ADI-R and ADOS
 4.92 1.20 years
 87.38% Male
 142000
 0
 3
 3
 ziats_16_DD/ID/ADHD/ASD_discovery_cases
 Patients with 15q13.3 microdeletions spanning at least BP4-BP5 identified retrospectively by review of CMA results performed in the Baylor Medical Genetics Laboratory or Signature Genomics Laboratories (prior to its closure in 2014).
 18
 Original reasons for referral of cases included developmental delay (DD; n=5), intellectual disability (ID; n=9), ADHD (n=4), ASD (n=3), and depression (n=2). Cognitive and behavioral testing involved usage of the Differential Ability Scales-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).
 Mean age, 14.0 yrs.
 77.78% Male
 N/A
 15
 0
 15

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahn_13_SCZ_discovery_controls
 Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
 98
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 465219
 0
 4
 4
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 399000
 5
 1
 6
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 372000
 0
 0
 0
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 436756
 0
 0
 0
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 440000
 0
 52
 52
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 498744
 0
 3
 3
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 1283672
 0
 1
 1
 handrigan_13_ASD/DD/ID_discovery_controls
 Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
 11019
 Control
 NA
 NA
 NA
 NA
 NA
 NA
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 532246
 1
 2
 3
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 81000
 1
 1
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 81000
 3
 6
 9
 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
 517610
 1
 0
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 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)
 132440
 0
 2
 2
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 36304
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 28372
 1
 0
 1
 van_den_bossche_12_BPD_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 229000
 0
 1
 1
 van_den_bossche_12_ID_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 229000
 0
 1
 1
 van_den_bossche_12_MDD_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 229000
 0
 1
 1
 van_den_bossche_12_SCZ_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 229000
 0
 1
 1
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 400388
 0
 0
 0
 zhou_16_SCZ_discovery_controls
 "Healthy" siblings of schizophrenia probands recruited nationally as part of an ongoing longitudinal study
 116
 Siblings of schizophrenia probands that did not meet criteria for schizophrenia (other non-psychotic diosrders were allowed)
 N/A
 N/A
 600200
 0
 3
 3
 zhou_19_ASD_discovery_controls
 Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
 512
 Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
 29.77 9.12 years
 76.17% Male
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 ahn_13_SCZ_discovery_cases
  N/A
 Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
 PennCNV, QuantiSNP, GNOSIS
 Illumina GenomeStudio, CNVision, Nexus copy number
 array SNP, aCGH, qPCR
 bacchelli_15_ASD_discovery_cases
  Italian
 qPCR
 
 
 
 Solid phase hybridization (Illumina 1M-Duo)
 bartnik_12_EP_discovery_cases
  Poland
 aCGH
  Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
 
 BCM web-based software, IMiD-web2py
 None
 beal_13_ASD_discovery_cases
  N/A
 aCGH
  N/A
 
 
 FISH
 ben-shacher_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH, Agilent 44K
 ADM-2
 Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
 FISH
 ben-shacher_09_combined_discovery_cases
 
 aCGH
  BACs aCGH, Agilent 44K
 ADM-2
 Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
 FISH
 ben-shacher_09_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, Agilent 44K
 ADM-2
 Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
 FISH
 bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
  Danish
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 budisteanu_21_ASD/DD/ID_discovery_cases
  Romania
 aCGH
  Agilent SurePrint G3 8x60K ISCA v.2 or 4x180K
 N/A
 N/A
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 Solid phase hybridization (Illumina 1M SNP)
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 chen_21_ASD/DD/ID_discovery_cases
  Taiwan
 CMA
  CytoOne Array (Phalanx Biotech)
 CBS
 MATLAB v.R2009a
 None
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 qPCR
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 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
 None
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 qPCR
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 firouzabadi_16_ASD_discovery_cases
  Iranian
 aCGH
  BlueGnome CytoChip ISCA 8x60K v2.0
 
 BlueFuse Multi v3
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 fry_16_DD/ID/EP/ASD_discovery_cases
  78 White British, 1 South Asian, 1 Mixed White/South Asian
 aCGH, solid phase hybridization
  Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
 PennCNV
 Illumina BlueFuse Multi v3.1
 Solid phase hybridization (Illumina)
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 ghasemi_firouzabadi_16_ASD_discovery_cases
  Iranian
 MLPA
  MLPA P036, P070, P343, and P396 kits
 
 
 None
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
  N/A
 CMA
  Platform N/A
 
 
 MLPA
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_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_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 gorker_18_ASD_discovery_cases
  Turkish
 aCGH
  Agilent SurePrint G3 8x60K
 N/A
 Agilent Feature Extraction v.12.0.1.1, Agilent Cytogenomics v.2.9.2.4
 None
 handrigan_13_ASD/DD/ID_discovery_cases
  NA
 aCGH, solid phase hybridization
  Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
 
 
 None
 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
 hoppman-chaney_12_CHRNA7_discovery_cases
  NA
 aCGH
  Agilent 4x44 K or Agilent 4x180K
 
 Agilent DNA Analytics V4.0
 FISH
 kamien_14_ASD_discovery_cases
  N/A
 aCGH
  BlueGnome 60K ISCA array
 
 BlueMulti v.26
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leblond_12_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina Human 1M-Dup BeadChip
 QuantiSNP, PennCNV
 
 None
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 aCGH (Agilent 1M)
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 li_18_ASD_discovery_cases
  Chinese
 Low-coverage WGS
  Illumina HiSeq 2000 or 2500 analyzers
 PSCC
 
 None
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases
  Caucasian
 Array SNP, N/A
  Affymetrix 6.0
 
 
 FISH
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 meganathan_21_ASD/ADHD/DD_discovery_cases
  United States
 Array SNP
  Affymetrix CytoScan HD
 N/A
 N/A
 None
 melchior_13_TS/ADHD/OCD_discovery_cases
  Denmark
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 qPCR
 mikhail_11_DD/ID_discovery_cases
  NA
 aCGH
  Agilent 4 X 44K, Agilent 2 X 105K
 
 Feature Extraction V9.5, DNA Analytics V4.0
 FISH
 moreira_14_ASD/EP_discovery_cases
  Ethnically-mixed Brazilian
 MLPA
 
 
 
 Array SNP
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 pagnamenta_09_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1M BeadChip SNP array
 QuantiSNP
 BeadStudio
 aCGH (Agilent 44K)
 pagnamenta_09_ASD_proband_family_cases
  Caucasian
 Solid phase hybridization
  Illumina Human 1M BeadChip SNP array
 QuantiSNP
 BeadStudio
 aCGH (Agilent 44K)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 shin_15_ASD/DD/ID_discovery_cases
  Korean
 MLPA
  SALSA MLPA P245 Microdeletion Syndromes probemix
 
 GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
 Array SNP (Affymetrix CytoScan 750K)
 soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases
  Caucasian
 aCGH, FISH
  CMA V8.1 OLIGO
 
 
 FISH, aCGH (NimbleGen 4.2M, Agilent 4x44K), qPCR
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 qPCR
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 None
 van_den_bossche_12_BPD_discovery_cases
  264 from Belgium, 305 from Sweden, 107 from Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_ID_discovery_cases
  Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_MDD_discovery_cases
  Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_SCZ_discovery_cases
  170 from Belgium, 543 from Sweden, 568 from Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 wisniowiecka-kowalnik_12_ASD_discovery_cases
  Polish
 aCGH
  OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
 
 BCM web-based software, custom-designed IMiD-web2py software
 FISH
 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
 yingjun_17_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 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
 zhou_16_SCZ_discovery_cases
  N/A
 N/A
  N/A
 PennCNV, QuantiSNP, GNOSIS
 CNVision
 None
 zhou_19_ASD_discovery_cases
  Han Chinese
 Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
 XHMM v.1.0
 qPCR, solid phase hybridization
 ziats_16_DD/ID/ADHD/ASD_discovery_cases
  N/A
 CMA
 
 
 
 MLPA

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  ahn_13_SCZ_discovery_controls
  N/A
  Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
  PennCNV, QuantiSNP, GNOSIS
  Illumina GenomeStudio, CNVision, Nexus copy number
 
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
  qPCR
  handrigan_13_ASD/DD/ID_discovery_controls
  NA
  N/A
  N/A
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  van_den_bossche_12_BPD_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_ID_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_MDD_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_SCZ_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None
  zhou_16_SCZ_discovery_controls
  N/A
  N/A
  N/A
  PennCNV, QuantiSNP, GNOSIS
  CNVision
  None
  zhou_19_ASD_discovery_controls
  Han Chinese
  Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
  XHMM v.1.0
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  ahn_13_SCZ_discovery_cases-NSB_ID1546
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 32159287
 32541458
  382172
 GRCh38
 Deletion
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID498
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 32159287
 32633875
  474589
 GRCh38
 Deletion
 Yes
  bacchelli_15_ASD_discovery_cases-case3474_3
 13 yrs.
 M
 Autism
 Diagnosis of autism based on meeting ADI-R and ADOS criteria. Birth and neonatal history: no exposure of history of alcohol, tobacco, or drug abuse during pregnancy; born at term by C-section; birth weight of 3550 g (50th %ile) and length of 50 cm (50th %ile); breast-fed with good suction. Developmental milestones: sat unaided at age of 8 months, started walking independently at 16 months; babbling noted at age of 9 months, pronounced first words at 12 months; regression of language skills at age 18 months associated with refusal of physical contact, selective feeding, and hyperactivity. Language and communication evaluation: able to pronounce only single words with reduced gesture repertoire; limited comprehension. Epilepsy/seizures: developed complex partial seizures with secondary generalization at age of 13 years. EEG: reported to be normal at age of 5 years 5 months. Brain imaging: brain MRI reported to be normal. Dysmorphic features: bilateral epicanthal folds, broad-hypoplastic nasal bride, prominent digit pads. Growth parameters: weight of 26 kg (97th %ile), height of 114 cm (50th-75th %ile), and OFC of 55.5 cm (>90th %ile) at age of 5 years 5 months. Family history: only child of healthy non-consanguineous parents; paternal grandfather's sister affected by intellectual disability; paternal grandfather's brother had speech delay.
 Moderate cognitive impairment
 31713145
 32223772
  510628
 GRCh38
 Duplication
 Yes
  bartnik_12_EP_discovery_cases-case23
 NA
 F
 Epilepsy
 Age of onset of epilepsy: 3 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME) with absence seizures with eyelid myoclonia and generalized tonic-clonic seizures (GTCS). Parental phenotype: unknown.
 Normal IQ
 32003935
 32112155
  108221
 GRCh38
 Duplication
 No
  beal_13_ASD_discovery_cases-case1
 4 yrs.
 M
 Autism and epilepsy
 Birth/neonatal history: product of full term gestation delivered via repeat cesarian section; no complications with pregnancy or delivery. Developmental milestones: speech delay; first words around 1 year of age, speaking in multiple word phrases at age of 3 years. Behavioral/psychiatric evaluation: failed to engage socially with other children his age; inappropriately affectionate towards adults, even those he did not know; poor eye contact; repeatedly hugged examiner, but did not speak to the examiner or answer questions; no echolalia. Epilepsy/seizures: three reported seizures; first event described as a 5-minute generalized convulsion, patient found to be febrile and treated with antibiotics for sinusitis; second seizure (generalized convulsion) reportedly resolved after 2 minutes, but then recurred about 2 hours later and last approximately 5 minutes, patient again found to be febrile and was diagnosed with upper respiratory tract infection; third seizures (focal) occurred more than a year later, described as slumping to the right and shaking of right arm, lasting about 2 minutes. EEG: initial routine EEG showed rare right parietal sharp waves; subsequent monitoring with continuous EEG for 2 days demonstrated 3- to 4-Hz sharp wave and slow wave discharges independently over both hemispheres, right greater than left; no seizures were captured. Brain imaging: brain MRI significant for pachygyria and associated subcortical band heterotopia in the posterior frontal and temporal lobes and in the parietal and occipital lobes. Additional medical history: no significant medical history prior to presentation of symptoms. Family history: no family history of seizures, autism, mental retardation, or other neurologic impairments; parents declined genetic testing.
 
 N/A
 N/A
  500000
 Unknown
 Duplication
 Yes
  ben-shacher_09_ASD_discovery_cases-caseF12-1
 NA
 
 Autism
 Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%
 IQ 70
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_ASD_discovery_cases-caseF12-2
 NA
 
 Autism
 Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%
 IQ 70
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_ASD_discovery_cases-caseF2-1
 NA
 
 Asperger
 Mild language delay, no seizures, ADHD; weight 95%, height >97%, FOC 90%
 IQ 82
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_ASD_discovery_cases-caseF8-1
 NA
 
 Autism
 Moderate language delay, no seizures, ADHD; long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of non-ASD discovery case F8-2.
 Mild MR
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_ASD_discovery_cases-caseF9-1
 NA
 
 ASD
 Severe language delay, no seizures, extremely hyperkinetic & very aggressive behaviors, mild facial dysmorphism; weight 50%, height 75% (10 yrs.), FOC 50% (birth)
 IQ 27
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF10-1
 NA
 
 Developmental delay
 Global developmental delay, too young to determine ASD; severe language delay, no seizures, rocking, normal MRI; weight 2%, height 10%, FOC 25%
 NA
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF11-1
 NA
 
 Developmental delay
 Moderate developmental delay, no ASD; severe language delay, no seizures; weight 95%, height 90%, FOC >97%
 NA
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF3-1
 NA
 
 Developmental delay
 Moderate developmental delay/borderline ASD; severe language delay, no seizures, normal MRI, weight/height/FOC all 50-75%
 NA
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF4-1
 NA
 
 Language delay
 Mild language delay, normal developmental delay (?), no ASD, seizures, normal MRI; weight 65%, height 7%
 NA
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF5-1
 NA
 
 Developmental delay
 Moderate developmental delay, no ASD; moderate language delay, no seizures, digital findings, arachnoid cyst; weight 44%, height 11%, FOC 75%
 NA
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF6-1
 NA
 
 Developmental delay
 Mild developmental delay, no ASD; moderate language delay, no seizures, aggressive, self-injurious; weight 92%, height >89%, FOC 50%
 NA
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF7-1
 NA
 
 Developmental delay
 Moderate developmental delay, no ASD; moderate language delay, no seizures, head banging, digital findings, normal MRI; weight, height, & FOC within normal range
 NA
 
 
  1600000
 Unknown
 Deletion
 Yes
  ben-shacher_09_non-ASD_discovery_cases-caseF8-2
 NA
 
 Mental retardation
 No ASD; moderate language delay, no seizures, impulsive, ADHD, mood disorder, long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of ASD discovery case F8-1.
 Mild MR
 
 
  1600000
 Unknown
 Deletion
 Yes
  bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient5
 N/A
 M
 Tourette syndrome
 Symptoms: TS. Family history: both mother and father were unaffected.
 N/A
 31726984
 32147097
  420114
 GRCh38
 Duplication
 No
  budisteanu_21_ASD/DD/ID_discovery_cases-case1
  NA NA
 9 yrs.
 M
 ASD and developmental delay/intellectual disability
 Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: severe speech delay (first words at 4 years 6 months, first sentences at 6 years); severe motor delay. Language and communication evaluation: dyslalia. Motor and musculoskeletal evaluation: hypotonia, inability to walk independently at 9 years, secondary left hemiparesis following surgical intervention in early childhood, impaired fine motor skills. Behavioral/psychiatric evaluation: aggressive behavior, low frustration threshold, stereotypic movements, poor social interaction skills. Epilepsy/seizures: none reported. EEG: EEG anomalies reported (focal discharges of spike-and-wave complexes and spikes). Brain imaging: brain MRI abnormalities reported (right temporal cyst). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range.
 Variable evolution with mild developmental delay (DQ 51) at 26 months followed by a decrease in IQ (45 at 9 years) after neurosurgical intervention due to a large right temporal cyst.
 31680442
 32217725
  537284
 GRCh38
 Duplication
 No
  budisteanu_21_ASD/DD/ID_discovery_cases-case2
  NA NA
 15 yrs.
 M
 ASD, developmental delay/intellectual disability, and epilepsy
 Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: moderate speech delay (first words after 3 years); moderate motor delay. Language and communication evaluation: dyslalia. Motor and musucloskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: hyperkinesia, aggressive behavior, low frustration threshold, stereotypic movements, poor social interaction skills. Epilepsy/seizures: focal epileptic seizures. EEG: EEG anomalies reported (focal discharges of spike-and-wave complexes and spikes). Brain imaging: brain MRI abnormalities reported (Dandy-Walker malformation). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range.
 Moderate developmental delay/intellectual disability (IQ/DQ 40)
 31772796
 32150877
  378082
 GRCh38
 Duplication
 No
  budisteanu_21_ASD/DD/ID_discovery_cases-case3
  NA NA
 2 yrs. 4 mos.
 M
 ASD and developmental delay/intellectual disability
 Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: moderate speech delay (no words at 2 years 4 months); mild motor delay. Motor and musucloskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: stereotypic movements, poor social interaction skills, sleep problems. Epilepsy/seizures: none reported. EEG: not available. Brain imaging: normal (no brain MRI abnormalities present). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range.
 Moderate developmental delay/intellectual disability (IQ/DQ 39)
 31759029
 32218662
  459634
 GRCh38
 Duplication
 No
  budisteanu_21_ASD/DD/ID_discovery_cases-case4
  NA NA
 4 yrs.
 F
 ASD and developmental delay
 Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: moderate speech delay (first words after 3 years). Language and communication evaluation: dyslalia. Motor and musculoskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: hyperkinesia, poor social interaction skills. Epilepsy/seizures: none reported. EEG: not available. Brain imaging: not available. Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range. Family history: affected sibling with 15q13.3 duplication (case 5 in this report).
 Normal cognitive development (IQ/DQ 73)
 31759029
 32218662
  459634
 GRCh38
 Duplication
 No
  budisteanu_21_ASD/DD/ID_discovery_cases-case5
  NA NA
 10 yrs.
 M
 ASD and developmental delay
 Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: mild speech delay (first words at 15 months, first simple sentences at 2 years 7 months). Motor and musculoskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: low frustration threshold, poor social interaction skills, anxiety disorder. Epilepsy/seizures: none reported. EEG: EEG anomalies reported (focal discharges of spike-and-wave complexes and spikes). Brain imaging: normal (no brain MRI abnormalities present). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range. Family history: affected sibling with 15q13.3 duplication (case 4 in this report).
 Normal cognitive development (IQ/DQ 90)
 31759029
 32218662
  459634
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11178
 NA
 M
 ASD
 NA
 NA
 32153551
 32170442
  16892
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-1850
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 11 (past score 22); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 11); Qualitative abnormalities in nonverbal communication, current score 3 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 8); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 95; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.
 Performance IQ 105, Verbal IQ 114, Full-scale IQ 111
 32853510
 33253897
  400388
 GRCh38
 Duplication
 Yes
  chen_17_ASD_discovery_cases-caseU-2158
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 0 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 10); Qualitative abnormalities in nonverbal communication, current score 0 (past score 5); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 6); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 71; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 28. Epilepsy: no history of epilepsy.
 Performance IQ 112, Verbal IQ 95, Full-scale IQ 103
 32166460
 32565269
  398810
 GRCh38
 Deletion
 Yes
  chen_21_ASD/DD/ID_discovery_cases-case18
 NA
 NA
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 31732569
 32151809
  419241
 GRCh38
 Duplication
 No
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 31729530
 32218662
  489133
 GRCh38
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU052003
 NA
 M
 ASD
 NA
 NA
 30999907
 31371464
  371558
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299973
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 31729530
 32218662
  489133
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300212
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 31735530
 32218662
  483133
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300527
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 31729530
 32146742
  417213
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300534
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 31729530
 32218662
  489133
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_301271
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 31729530
 32218662
  489133
 GRCh38
 Duplication
 No
  egger_14_ASD_discovery_cases-caseA2
 23 yrs. (born 1991)
 M
 ASD
 Diagnosis: early infantile autism. Comorbidities/additional features: ADHD. Family history: sister with cognitive impairment. CNV: high stringency genic CNV call (2 or more algorithms, with no overlapping calls in 2,357 POPGEN and OHI controls, 100% overlap in DGV.
 Cognitive impairment (IQ<60)
 31707442
 32151995
  444554
 GRCh38
 Deletion
 Yes
  feliciano_19_ASD_discovery_cases-caseSP0000759
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 31063118
 31076922
  13805
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0013984
 N/A
 M
 ASD
 Family history: mother presents with anxiety.
 
 31060493
 31076989
  16497
 GRCh38
 Deletion
 No
  firouzabadi_16_ASD_discovery_cases-patient3
 7 yrs.
 M
 ASD
 Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: seizures. Growth parameters: mild microcephaly (head circumference -2 SD).
 Intellectual disability
 31772827
 32217696
  444870
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
 N/A
 M
 Developmental delay
 Global developmental delay; Abnormal facial shape; Mild short stature; Abnormality of the cardiac septa
 
 31673312
 32526812
  853501
 GRCh38
 Duplication
 No
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR528
 23 yrs.
 M
 ASD, intellectual disability and epilepsy
 Clinical features: severe intellectual disability, developmental regression, ASD, challenging behavior, dysmorphic features. Age of seizure onset: 11 years. Epilepsy syndrome: focal epilepsy. Seizure types: absence seizures.
 Severe intellectual disability
 31727716
 32222140
  494425
 GRCh38
 Duplication
 Yes
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR650
 21 yrs.
 M
 Intellectual disability and epilepsy
 Clinical features: mild intellectual disability, thin habitus, depression. Age of seizure onset: 18 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, generalized tonic-clonic seizures.
 Mild intellectual disability
 31737490
 32222725
  485236
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case534-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 31914658
 31939060
  24403
 GRCh38
 Duplication
 No
  ghasemi_firouzabadi_16_ASD_discovery_cases-p35
 7 yrs.
 M
 ASD
 Seizures, ADHD, microcephaly
 Intellectual disability
 N/A
 N/A
  N/A
 Unknown
 Duplication
 No
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 5 yrs.
 M
 ASD and ADHD
 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: Central nervous system disorder. Developmental milestones: walking at 19 months, first word at 17 months, 2 word sentences at 47 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 25th %ile, weight 10th %ile, OFC 90th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, mother was bipolar as a teen and had challenges in high school; noncarrier parental phenotype, father has a history of depression and had challenges in high school.
 Full scale ratio IQ (DAS-II): 71.
 31923071
 32153051
  229981
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient10
 10 yrs.
 F
 ASD and developmental delay/intellectual disability
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Moderate developmental delay/intellectual disability, dysmorphic features. Developmental milestones: sitting at 12 months, walking at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 80th %ile, OFC 36th %ile. Ethnicity: Vietnamese. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
 Full scale ratio IQ (DAS-II): 38.
 32003935
 32151825
  147891
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient11
 6 yrs.
 M
 ADHD and developmental delay
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay, behavioral problems. Developmental milestones: sitting at 10 months, crawling at 10 months, walking at 14 months, first word at 42 months, two word sentences at 60 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: one seizure at age of 8 months. Growth parameters: height 5th %ile, weight 1st %ile, OFC <1st %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of schizophrenia, ADHD, and learnng disability; noncarrier parental phenotype, mother has a history of depression and anxiety; CHRNA7 duplication is present in 1/2 siblings presenting with unspecified neuropsychiatric conditions.
 Full scale ratio IQ (DAS-II): 85.
 31926071
 32153051
  226981
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient12
 14 yrs.
 M
 ADHD and epilepsy
 Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, partial empty sella with small pituitary, ADHD, epilepsy. Developmental milestones: sitting at 5 months, crawling at 5 months, walking at 10 months, first word at 10 months, two word sentences of 18 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: idiopathic generalized epilepsy. Growth parameters: height 1st %ile, weight 2nd %ile, OFC 2nd %ile. Ethnicity: Caucasian/Native American. Family history: carrier parental phenotype, N/A; noncarrier parental phenotype, N/A.
 Full scale ratio IQ (DAS-II): 72.
 31926071
 32132866
  206796
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient13
 12 yrs.
 F
 ADHD and bipolar disorder
 Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Bipolar disorder, possible ADHD, behavioral problems, suicidal tendencies, prenatal exposure to teratogens, scoliosis, chromosomal abnormality. Developmental milestones: sitting at 5 months, crawling at 9 months, walking at 12 months, first word at 10 months, two word sentences at 12 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 90th %ile, OFC N/A. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of bipolar disorder, PTSD, and substance abuse; noncarrier parental phenotype, mother has a history of anxiety.
 Full scale ratio IQ (DAS-II): 87.
 31926071
 32146594
  220524
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient14
 8 yrs.
 M
 ASD
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Dysmorphic features. Developmental milestones: crawling at 11 months, walking at 17 months, two word sentences at 42 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 67th %ile, weight 75th %ile, OFC 97th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of depression and attention deficit disorder; unaffected sibling who tested negative for the CHRNA7 duplication.
 Full scale ratio IQ (DAS-II): 101.
 31926071
 32122959
  196889
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient15
 6 yrs.
 M
 Developmental delay/intellectual disability
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay/intellectual disability, aortic dilatation. Developmental milestones: sitting at 7 months, crawling at 14 months, walking at 19 months, first word at 36 months, two word sentences at 42 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 20th %ile, weight 10th %ile, OFC 41st %ile. Ethnicity: Caucasian/Hispanic. Family history: carrier parental phenotype, father has a history of learning disabilities/intellectual disabilities; noncarrier parental phenotype, none.
 Full scale ratio IQ (DAS-II): 64.
 31926071
 32153051
  226981
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient17
 11 yrs.
 M
 Dyslexia
 Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Dyslexia, anger control problems. Developmental milestones: sitting at 5 months, crawling at 6 months, walking at 12 months, first word at 14 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 61st %ile, weight 93rd %ile, OFC 67th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none; affected sibling with CHRNA7 duplication (patient 5 in this report).
 Full scale ratio IQ (DAS-II): 89.
 32003935
 32151825
  147891
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient18
 10 yrs.
 F
 ASD and ADHD
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Developmental delay, macrocephaly. Developmental milestones: sitting at 7 months, crawling at 11 months, walking at 16 months, first word at 15 months, two word sentences at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 70th %ile, weight 70th %ile, OFC 99th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of stutter and currently takes concerta.
 Full scale ratio IQ (DAS-II): 59.
 31926071
 32153051
  226981
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 11 yrs.
 F
 Encephalopathy and language impairment
 Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Encephalopathy. Developmental milestones: sitting at 5 months, walking at 9 months, first word at 24 months, two word sentences at 60 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 25th %ile, weight 25th %ile, OFC 50th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has no phenotype.
 Full scale ratio IQ (DAS-II): 53.
 32003935
 32153051
  149117
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 12 yrs.
 F
 ASD and ADHD
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Autism. Developmental milestones: sitting at 6.5 months, crawling at 8.5 months, walking at 13 months, first word at 10 months, two word sentences at 30 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 66.43th %ile, weight 67.85th %ile, OFC 70th %ile. Ethnicity: Caucasian/Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of Asperger syndrome, ADHD, anxiety, and hypotonia.
 Full scale ratio IQ (DAS-II): 132.
 31926071
 32153051
  226981
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 6 yrs.
 M
 Developmental delay and epilepsy
 Assessment by ADI-R and ADOS N/A (clinical impression of ASD N/A). Original reason for referral: Developmental delay. Developmental milestones: first word at 24 months. Langauge and communication evaluation: absent speech (non-verbal). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: myoclonic epilepsy and infantile spasms. Growth parameters: N/A. Ethnicity: Caucasian. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none; affected sibling with CHRNA7 duplication (patient 17 in this report).
 Full scale ratio IQ (DAS-II): N/A.
 32003935
 32151825
  147891
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
 5 yrs.
 M
 Developmental delay
 Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay. Developmental milestones: sitting at 12 months, crawling at 12 months, walking at 36 months, first word at 42 months, two word sentences at 48 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 14.97th %ile, weight 38.7th %ile, OFC 45th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
 Full scale ratio IQ (DAS-II): 103.
 32003935
 32151889
  147955
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7
 14 yrs.
 M
 Speech delay
 Case did not meet cutoff scores in all behavioral areas on ADI-R but was classified as being on the autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, speech delay, dysmorphic features. Developmental milestones: N/A. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 0.32th %ile, weight 3.03th %ile, OFC 5th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
 Full scale ratio IQ (DAS-II): 53.
 32003935
 32153051
  149117
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient8
 10 yrs.
 M
 Language impairment and hypotonia
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: None. Developmental milestones: sitting at 10 months, crawling at 12 months, walking at 14 months, first word at 14 months, two word sentences at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 70th %ile, weight 20th %ile, OFC 55th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of dyslexia; noncarrier parental phenotype; none; CHRNA7 duplication is also present in a affected sibling (cognitive deficits).
 Full scale ratio IQ (DAS-II): 115.
 31711334
 32151843
  440510
 GRCh38
 Duplication
 Yes
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient9
 6 yrs.
 M
 ASD and ADHD
 Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of ASD). Original reason for referral: None. Developmental milestones: sitting at 8 months, crawling at 10 months, walking at 15 months, first word at 13 months, two word sentences at 48 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 84.17th %ile, weight 89.84th %ile, OFC 75th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
 Full scale ratio IQ (DAS-II): 88.
 31711334
 32151843
  440510
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si129
 6
 M
 Autism
 ADOS score: 9. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
 31709285
 32146043
  436759
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si229
 11
 F
 Autism
 ADOS score: 9. Vineland composite score: 69.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
 31727660
 32146043
  418384
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si82
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
 31727660
 32136077
  408418
 GRCh38
 Duplication
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case0681
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0682
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0683
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0684
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0685
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0686
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0687
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0688
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0689
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0690
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0691
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0692
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0693
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0694
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0695
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0696
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0697
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0698
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0699
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0700
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0701
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0702
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0703
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0704
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0705
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0706
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0707
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0708
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0709
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0710
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0711
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0712
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0713
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0714
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0715
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0716
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0717
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0718
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0719
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0720
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0721
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0722
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0723
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0724
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0725
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0726
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0727
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0728
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0729
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0730
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0731
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0732
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0733
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0734
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0735
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0736
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0737
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0738
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0739
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0740
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0741
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0742
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0743
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0744
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0745
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0746
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0747
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0748
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0749
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0750
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0751
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0752
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0753
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0754
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0755
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0756
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0757
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0758
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0759
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0760
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0761
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0762
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0763
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0764
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0765
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0766
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0767
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0768
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0769
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0770
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0771
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0772
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0773
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0774
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0775
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0776
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0777
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0778
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0779
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0780
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0781
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0782
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0783
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0784
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0785
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0786
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0787
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0788
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0789
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0790
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0791
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0792
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0793
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0794
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0795
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0796
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0797
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0798
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0799
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0800
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0801
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0802
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0803
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0804
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0805
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0806
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0807
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0808
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0809
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0810
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0811
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0812
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case28304
 NA
 NA
 MCA
 Multiple congenital anomalies (MCA)
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case31441
 NA
 NA
 Cardiac defects
 Heart defect
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case38091
 NA
 NA
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case40242
 NA
 F
 Developmental delay
 NA
 NA
 31720505
 32160507
  440003
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case46810
 NA
 NA
 Developmental delay
 NA
 Developmental delay
 31720505
 32160507
  440003
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-13686.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
 31063151
 31099454
  36304
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU0316301
 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
 31063151
 31099454
  36304
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU079904
 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
 31063151
 31099454
  36304
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU1006301
 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
 31097443
 31109013
  11571
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU2275301
 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
 31063151
 31099454
  36304
 GRCh38
 Deletion
 Yes
  girirajan_13b_ASD_discovery_cases-10609111027
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 31727660
 32146043
  418384
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-10609111027
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 31711615
 32326798
  615184
 GRCh38
 Duplication
 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
 31727660
 32146043
  418384
 GRCh38
 Duplication
 No
  gorker_18_ASD_discovery_cases-case20
  NA NA
 5 yrs.
 M
 ASD, ADHD, ID
 ASD and ADHD
 Intellectual disability
 31806467
 32134668
  328202
 GRCh38
 Duplication
 No
  handrigan_13_ASD/DD/ID_discovery_cases-patient32
 6 mos.
 M
 ASD
 Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
 
 31737398
 32146912
  409515
 GRCh38
 Deletion
 No
  hnoonual_17_ASD_discovery_cases-caseRA29
 N/A
 M
 ASD and intellectual disability
 No additional clinical features
 Intellectual disability
 32097159
 32122887
  25729
 GRCh38
 Deletion
 No
  hoppman-chaney_12_CHRNA7_discovery_cases-probandA
 5 yrs.
 M
 Autism + DD/ID
 Autism spectrum disorder: autism. Behavioral problems: ADHD, aggression, hyperphagia. Seizures: Yes. Dysmorphic facial features: short & thick philtrum, full lips, everted upper & lower lips, mild retrognathia. Other features: abnormal hand movements, hypertrichosis on upper arms, bilateral single palmar creases, mildly tapered fingers, shirt 5th metacarpals, hypomelanotic macules, nystagmus, T2 hyperintensity in cerebral cortex. Family history: father with bipolar disorder; two half-siblings with ADHD, facial dysmorphism, and myopia; one half-sibling with strawberry hemangiona on arm (too young to evaluate psychiatric condition); all carry 15q13.3/CHRNA7 deletion.
 Global developmental delay and cognitive disability
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandF
 4 yrs.
 M
 Developmental delay + intellectual disability
 Autism spectrum disorder: NA. Behavioral problems: Yes. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: father with psychiatric problems; sister with developmental delay; paternal aunt with bipolar disorder, paternal cousin with cognitive disabilities (all affected individuals carry 15q13.3/CHRNA7 deletion).
 Developmental delay and cognitive disability
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandK
 5 wks.
 M
 Other
 Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: failure to thrive. Family history: both parents with developmental delay.
 NA
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandL
 7 yrs.
 M
 PDD-NOS
 Autism spectrum disorder: PDD-NOS. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: NA.
 NA
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandM
 2 yrs.
 M
 PDD-NOS
 Autism spectrum disorder: PDD-NOS. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: NA.
 NA
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandN
 5 wks.
 F
 Other
 Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: none. Other features: feeding difficulties, central hypotonia, neutropenia. Family history: mother with anxiety and major depression.
 NA
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandO
 3 yrs.
 M
 Autism
 Autism spectrum disorder: autism. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: macrocephaly. Other features: NA. Family history: father with dyslexia and ADHD.
 NA
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandR
 9 mos.
 M
 Other
 Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: mild hypertelorism. Other features: chronic otitis media. Family history: NA.
 No developmental delay or cognitive disability
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandS
 16 mos.
 M
 Other
 Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA . Other features: lack of coordination. Family history: NA.
 NA
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  hoppman-chaney_12_CHRNA7_discovery_cases-probandT
 4 yrs.
 M
 Developmental delay + intellectual disability
 Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: microcephaly. Other features: failure to thrive, hypotonia, structural brain anomaly, encephalopathy. Family history: NA.
 Global developmental delay and cognitive disability
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  kamien_14_ASD_discovery_cases-case2
 5 yrs.
 M
 ASD
 Diagnosis of autistic disorder made using ADOS, ADI-R, and DSM-IV-TR criteria performed at age of 4 years, 6 months. Birth/neonatal history: born at 36 weeks gestation after uncomplicated pregnancy with no known exposures in utero; birth weight of 3.33 kg (AGA). Developmental milestones: concerns raised at age of 18 months for speech delay. Behavioral/psychiatric evaluation: anxiety and sensory issues. Other features: normal investigations including fragile X testing and urine metabolic screening. Dysmorphic features: relatively smooth philtrum. Growth parameters: height of 118 cm (97th %ile), weight of 15.0 kg (10th %ile), and head circumference of 51.0 cm (50th %ile) at age of 5 years. Family history: father (positive for 16p13.3/RBFOX1 deletion) with no medical conditions and no reported learning difficulties or social difficulties; maternal and paternal relatives reported ro have significant learning difficulties or ASD, but no testing data available.
 Griffith's Developmental assessment at age of 5 years showed cognitive performance of approximately 4 years, 9 months (i.e. within lower end of average range of functioning).
 31772827
 32217696
  444870
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000593
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31738809
 32217725
  478917
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002161
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31729530
 32149250
  419721
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002262
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31729530
 32149250
  419721
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31729530
 32149250
  419721
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31729530
 32149250
  419721
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31729530
 32149250
  419721
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002507
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31729530
 32149250
  419721
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003877
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31738809
 32217725
  478917
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31729530
 32222779
  493250
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004441
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31806467
 32343758
  537292
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12833.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12833. SRS score of 76.
 Full-scale IQ (FSIQ) score of 65.
 32030897
 32111899
  81003
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11298.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32030897
 32111899
  81003
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12219.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32030897
 32111899
  81003
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13661.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32030897
 32111899
  81003
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14086.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32030897
 32111899
  81003
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14125.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32030897
 32111899
  81003
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14213.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32030897
 32111899
  81003
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14268.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32030897
 32111899
  81003
 GRCh38
 Duplication
 Yes
  leblond_12_ASD_discovery_cases-AUGB038_3
 11.05 yrs.
 M
 Autism
 ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
 Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
 31727716
 32223772
  496057
 GRCh38
 Duplication
 No
  leblond_12_ASD_replication_cases-Pintocase5237_3
 NA
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
 Below average non-verbal IQ (<1st %ile)
 31728323
 32223772
  495450
 GRCh38
 Duplication
 Yes
  lintas_17_ASD_discovery_cases-case13.1
 N/A
 M
 Autism
 No additional clinical information available
 
 31864901
 32134668
  269768
 GRCh38
 Duplication
 Yes
  lintas_17_ASD_discovery_cases-case5.1
 N/A
 M
 Autism
 No additional clinical information available
 
 31680443
 32146742
  466300
 GRCh38
 Duplication
 Yes
  lintas_17_ASD_discovery_cases-case5.2
 N/A
 M
 Asperger syndrome
 No additional clinical information available
 
 31680443
 32146742
  466300
 GRCh38
 Duplication
 Yes
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case3
 N/A
 M
 Chiari I malformation
 Growth restriction, low birth weight. Chiari I malformation. Dysmorphic features and congenital anomalies: transverse palmar crease, cleft lip/palate.
 
 31772827
 32217696
  444870
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 15 yrs.
 M
 ASD and ID
 Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
 Intellectual disability
 32323405
 32384654
  61250
 GRCh38
 Duplication
 No
  li_18_ASD_discovery_cases-case4601
 N/A
 M
 ASD
 Diagnosis of ASD made according to DSM-IV
 
 31688737
 32172827
  484091
 GRCh38
 Duplication
 No
  lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case1
 65 yrs.
 F
 Schizophrenia and intellectual disability
 Language and communication: speech dysarticulation. Other features: adrenal adenoma, hyperlipidemia, osteoporosis, GERD, multiple small-bowel obstructions, renal cyst, Mosaic Turner syndrome (6 of 24 cells), hirsuitism. Growth parameters: OFC 50th %ile, height of 152.4 cm (short stature), BMI of 27.2 kg/m2. Family history: five family members (deceased father, three siblings, and one niece) affected wtith DD/ID and/or other psychiatric disorders (3/4 surviving family memebrs tested positive for 15q13.3 deletion).
 Moderate intellectual disability (IQ testing at age of 30 years revealed FSIQ of 48, performance IQ of 44, and verbal IQ of 56)
 30529434
 32220019
  1690586
 GRCh38
 Deletion
 Yes
  lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case5
 39 yrs.
 F
 Epilepsy and learning disability
 Epilepsy/seizures: primary generalized epilepsy; absence/generalized tonic-clonic seizures. EEG: abnormal. Language and communication evaluation: speech dysarthria. Behavioral/psychiatric evaluation: major depression, anxiety. Brain imaging: abnormal CT head without contrast. Birth/neonatal history: difficult pregnancy for her mother due to macrosomia; birth weight of 9.5 lbs. Medical history: congenital thyroid hypoplasia requiring thyroxine, sleep apnea, nystagmus. Growth parameters: N/A. Family history: positive for seizures on father's side.
 Learning disability
 N/A
 N/A
  N/A
 NCBI36
 Deletion
 No
  lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case6
 39 yrs.
 F
 Learning disability
 Language and communication evaluation: normal speech. Motor and musculoskeletal evaluation: scoliosis. Behavioral/psychiatric evaluation: major depression, anxiety. Other features: tonsillectomy, acquired unilateral hearing loss, type 2 diabetes mellitus, spontaneously closed septal defect during childhood. Family history: son with DD/ID and 15q13.3 deletion.
 Learning disability
 30662523
 32222756
  1560234
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case75
  NA NA
 3 yrs.
 M
 ASD and language delay
 Birth history: born at 37 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: prominent forehead, everted lower eyelid. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Normal (no intellectual disability or learning disorder)
 31729530
 32218662
  489133
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown40
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 31919348
 32146883
  227536
 GRCh38
 Duplication
 No
  meganathan_21_ASD/ADHD/DD_discovery_cases-caseAP
 8 yrs.
 M
 ASD, ADHD, and developmental delay
 Developmental milestones: delayed language development, pervasive developmental disorder. Language and communication evaluation: nonverbal communication problems. Behavioral/psychiatric evaluation: poor eye contact (no eye contact at 5 years, intermittent at 12 years); autism spectrum disorder (level 1), ADHD, depression and anxiety disorder (score of 71 on Teacher Report Form), mood disorder; Social Responsiveness Scale-2 (SRS-2) score of 72, Child Behavioral Checklist (CBCL) total score of 72 (attention deficit score by CBCL 92), Screen for Child Anxiety-Related Disorders (SCARED)-P score of 46. Epilepsy/seizures: no. Family history: unaffected mother with self-reported traits of depression and anxiety disorder and ADHD; affected brother with pervasive developmental delay, depression and anxiety disorder, developmental delay, nonverbal communication problems, speech/language delay, ADHD, autistic traits, and mood disorder (both also have the 15q13.3 duplication).
 
 31727714
 32151843
  424130
 GRCh38
 Duplication
 No
  melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
 8.5 yrs.
 M
 TS, ADHD, and OCD
 Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Additional diagnoses of obsessive-compulsive disorder (OCD) and ADHD. Case started to have tics at age of 7.5 years (total tic store at age of 8.5 years); methylphenidate treatment initiated at age of 8 years for ADHD symptoms; case also had OCD and rage attacks, did not have seasonal affective disorder, depression, sleeping disturbances, or stuttering. Family history: monozygotic twin brother with Tourette syndrome (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3), older brother with Tourette syndrome and OCD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2), mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
 Full scale IQ of 82; received special educational support in school.
 32011476
 32444044
  433000
 Unknown
 Duplication
 Yes
  mikhail_11_DD/ID_discovery_cases-patient7
 4 yrs.
 F
 Intellectual disability + developmental delay
 Behavioral problems: autistic features. Mild hypotonia. Dysmorphic features: mild hypertelorism, upslanted palpebral fissures. Growth parameters: height, 97 cm (10-25th %ile); weight, 15.0 kg (25-50th %ile); head circumference, 49.4 cm (25-50th %ile).
 Intellectual disability, developmental delay
 31680243
 32217866
  537624
 GRCh38
 Deletion
 Yes
  moreira_14_ASD/EP_discovery_cases-case2
 16 yrs.
 M
 ASD and epilepsy
 Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hand/feet contractures. Epilepsy/seizures: yes. Dysmorphic features: deep set ears/prominent or large ears, short philtrum, thick lips. Growth parameters: height of 156 cm (<3rd %ile), weight of 50 kg (10th %ile), and head circumference of 54.5 cm (25th-50th %ile). Family history: consanguineous parents; two unaffected siblings (not available for testing).
 
 31731989
 32217725
  485737
 GRCh38
 Duplication
 Yes
  moreira_14_ASD/EP_discovery_cases-case3
 12 yrs.
 M
 ASD and epilepsy
 Developmental milestones: developmental delay/regression. Language and communication evaluation: absent speech. Epilepsy/seizures: yes. Dysmorphic features: bulbous nose, deep set ears/prominent or large ears, short philtrum. Growth parameters: height of 135 cm (3rd %ile), weight of 26 kg (<3rd %ile), and head circumference of 51 cm (<3rd %ile).
 
 31663833
 32219380
  555548
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-253202
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 31729530
 32218662
  489133
 GRCh38
 Duplication
 N/A
  nord_11_ASD_discovery_cases-316-1
 
 
 ASD
 
 
 29140951
 29180148
  39198
 Unknown
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case449
 18 yrs.
 F
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hearing impairment
 
 31759030
 32218662
  459633
 GRCh38
 Duplication
 No
  oikonomakis_16_ASD_discovery_cases-case543
 3 yrs.
 F
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: growth deficiency, stereotypic movements, frontal bossing, arched upper lip, macrostomia, open mouth, microcephaly
 
 32146683
 32971442
  824760
 GRCh38
 Deletion
 No
  pagnamenta_09_ASD_discovery_cases-probandcase1
 NA
 M
 ASD
 Delayed language development, severe obesessional & hyperactive behaviors, very limited social interaction, poor eye contact, slightly disturbed coordination & dysdiadochokinesia, no epilepsy or abnormal EEG, no dysmorphologies reported, head cicrumference >97th centile, no hypotonia.
 Verbal IQ 85. Performance IQ 72. Full scale IQ 77.
 30646012
 32621939
  1975928
 GRCh38
 Deletion
 Yes
  pagnamenta_09_ASD_proband_family_cases-case2
 NA
 M
 ASD
 Delayed language development, socailly withdrawn, hyperactive behavior, irritable behavior in groups, poor eye contact, obsessional interests and ritualistic behaviors, no epilepsy or abnormal EEG, no dysmorphologies reported, head circumference 10-25th centile, no hypotonia.
 Verbal IQ 99 (PPVT=115). Performance IQ 94 (RAVEN SPM=100). Full Scale IQ 96.
 30646012
 32621939
  1975928
 GRCh38
 Deletion
 Yes
  pagnamenta_09_ASD_proband_family_cases-case3
 NA
 M
 ASD
 Markedly delayed language development, socially withdrawn, fixated with certain objects, use of idiosyncratic speech with articulation abnormalities. Hypotonia, distrubed coodination, dysdiadochokinesia, no dominant laterality. No epilepsy or abnormal EEG, head circumference >97th centile.
 Verbal IQ 85 (PPVT=90). Performance IQ 65. Full Scale IQ 72.
 30646012
 32621939
  1975928
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5237_3
 NA
 M
 Autism
 Below average language (<1%ile), no epilepsy, 5th finger clinodactyly, several curled toes
 Below average nonverbal IQ (1%ile)
 31728323
 32223772
  495450
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5248_3
 NA
 M
 ASD
 NA
 NA
 31713041
 32223772
  510732
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5311_3
 NA
 F
 ASD
 NA
 NA
 29816096
 30303265
  487170
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5320_3
 NA
 M
 ASD
 NA
 NA
 29762552
 30302973
  540422
 Unknown
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case6325_3
 N/A
 M
 ASD
 Case previously described in Leblond et al. 2012 (subject AU038_3). Autism, congenital inguinal hernia, severe language delay, functional language, no dysmorphic features, normal neurological exam, hypermetropia, astigmatism, no epilepsy. Family history: both parents unaffected; no siblings.
 Moderate ID
 31713041
 32223772
  510732
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case6396_3
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 31713145
 32206950
  493806
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI2130A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU079905; NDAR ID NDAR_INVTL336MH0)
 
 31063116
 31076923
  13808
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case03HI2699A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU0316301; NDAR ID NDAR_INVXP868VP5)
 
 31063116
 31076923
  13808
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI3851A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
 
 32030896
 32111901
  81006
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3863A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1340303; NDAR ID NDAR_INVFV383HNG)
 
 32030896
 32111901
  81006
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI4003A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1520302; NDAR ID NDAR_INVCE193UP7)
 
 32111788
 32163337
  51550
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case157660L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 31063151
 31099454
  36304
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case55360
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 31063151
 31099454
  36304
 GRCh38
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_294
 1 yr.
 F
 Developmental delay
 Additional clinical information N/A
 Global developmental delay
 31728229
 32151843
  423615
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_33
 4 yrs.
 F
 Developmental delay
 Mild language delay, dysmorphic facial features, adenoidal hypertrophy, hyperreflexia
 Global developmental delay
 31719272
 32154629
  435358
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_414
 4 yrs.
 M
 Developmental delay
 Joint hypermobility, accelerated growth
 Global developmental delay
 31728229
 32147323
  419095
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_459
 7 yrs.
 M
 Intellectual disability and epilepsy
 Psychomotor delay, myoclonic epilepsy, behavioral problems
 
 31719255
 32151843
  432589
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_460
 15 yrs.
 M
 Intellectual disability
 Behavioral problems, sleep disturbances, obsessive behaviors.
 Intellectual disability
 31711334
 32151843
  440510
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_469
 12 yrs.
 M
 ASD and intellectual disability
 ASD
 Intellectual disability
 31711334
 32154629
  443296
 GRCh38
 Duplication
 No
  roberts_13_ASD/DD/ID_discovery_cases-ASDcase9
 27 yrs.
 M
 ASD
 No reported clinical features
 
 31713224
 32261269
  548046
 GRCh38
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case21791
 NA
 NA
 ASD
 NA
 NA
 29207889
 29603362
  395473
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case23597
 NA
 NA
 ASD
 NA
 NA
 29207889
 29603362
  395473
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case26276
 NA
 NA
 ASD
 NA
 NA
 29207889
 29603362
  395473
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case28679
 NA
 NA
 ASD
 NA
 NA
 29207889
 29603362
  395473
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1328-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 31736601
 32222725
  486125
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1335-4
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
 Developmental delay: unknown. Intellectual disability: unknown.
 31736601
 32151995
  415395
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1559-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
 Developmental delay: unknown. Intellectual disability: unknown.
 31736601
 32151995
  415395
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-172
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 31736601
 32151995
  415395
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-007
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 31736601
 32151995
  415395
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 31507946
 31511119
  3174
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case56
 9 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 31772797
 32217725
  444929
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case88
 8 yrs.
 M
 Congenital anomalies
 Congenital anomalies, Dysmorphism
 
 31772797
 32217725
  444929
 GRCh38
 Duplication
 No
  shin_15_ASD/DD/ID_discovery_cases-case12
 7 yrs.
 M
 Intellectual disability
 Intellectual disability
 Intellectual disability
 31707428
 32151842
  444415
 GRCh38
 Duplication
 Yes
  soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseI-1
 N/A
 M
 Behavioral problems
 Behavioral/psychiatric evaluation: alcoholism, drug addiction, abusive behavior to family members. Family history: multiple family members with a history of alcoholism; daughter (II-3) with history of developmental delay and medical history significant for bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; two grandsons (cases III-2 and III-3) presenting with PDD-NOS, anxiety disorder, and dysthymia.
 
 31732549
 31732549
  1
 GRCh38
 Triplication
 No
  soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseII-3
 37 yrs.
 F
 Bipolar disorder, anxiety disorder, ADD, and epilepsy
 Developmental milestones: history of developmental delay, did not walk until 2-3 years of age. Motor and musculoskeletal evaluation: fine resting tremor. Behavioral/psychiatric evaluation: bipolar disorder, anxiety disorder, attention deficit disorder (ADD). Epilepsy/seizures: seizures since her twenties. Dysmorphic features: bilateral prominent antihelices, bulbous nasal tip, mildly flat philtrum. Family history: monozygotic twin sons presenting with PDD-NOS, anxiety disorder, and dysthymia (cases III-2 and III-3); father with medical history significant for alcoholism, drug addiction, and abusive behaviors to family members (with multiple family members with history of alcoholism); mother (I-2) in good physical health with no cognitive impairment and no history of neuropsychiatric disease.
 Learning disability
 31732549
 31732549
  1
 GRCh38
 Triplication
 No
  soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-2
 10 yrs.
 M
 PDD-NOS, anxiety disorder, and dysthymia
 Presented to genetics clinic for evaluation of intellectual disability and autistic behaviors. Birth/neonatal history: born as a monozygotic twin conceived naturally by a 26-year-old mother and 30-year-old father (both parents of Caucasian descent); born by spontaneous vaginal delivery at approximately 36 weeks gestation; birth weight of 1.955 kg (10th-25th %ile); hospitalized in NICU for 1 week for mild feeding difficulties. Developmental milestones: infancy and early childhood significant for speech delay, with active intervention speech therapy started at 2 years of age; motor development reported as normal. Motor and musculoskeletal evaluation: mild dysarthria, generalized hypotonia, poor balance, poor coordination when walking, no frank ataxia; bilateral 5th finger clinodactyly, single palmar crease on the left, generalized joint hypermobility. Behavioral/psychiatric evaluation: short attention span, low frustration tolerance, emotional profile significant for anxiety and depression; formal developmental and neuropsychiatric assessment (performed at age of 10 years 7 months) consistent with PDD-NOS, anxiety disorder, and dysthymia. Brain imaging: brain MRI performed at age of 10 years showed no anatomic abnormalities. Dysmorphic features: mild dysmorphic features; triangular face, hypertelorism (inner canthal distance 4 cm, >97th %ile), bilateral prominent antihelices, broad philtrum, high-arched palate. Growth parameters: head circumference of 55 cm (80th %ile), height of 145 cm (90th %ile), and weight of 41 kg (90th %ile). Family history: monozygotic twin brother with similar neuropsychiatric and cognitive phenotypes (caseIII-3); two maternal half-siblings reported as healthy with normal physical appearance and normal development; mother (II-3) with history of developmental delay and medical history significant for bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; maternal grandather (I-1)with medical history significant for alcoholism, drug addiction, and abusive behaviors to family members (with multiple family members with history of alcoholism); father (II-2) and maternal grandmother (I-2) in good physical health with no cognitive impairment and no history of neuropsychiatric disease.
 Cognitive abilites in borderline range (full-scale IQ of 75 on Wechsler Intelligence Scale for Children IV); at time of examination, subject was in the fourth grade, enrolled in general and special education classes; able to follow two-step commands, but required constant repetition and redirection.
 31732549
 31732549
  1
 GRCh38
 Triplication
 Yes
  soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-3
 10 yrs.
 M
 PDD-NOS, anxiety disorder, and dysthymia
 Presented to clinic for evaluation of developmental delay and learning problems at age of 10 years. Birth/neonatal history: born as a monozygotic twin conceived naturally by a 26-year-old mother and 30-year-old father (both parents of Caucasian descent); born by spontaneous vaginal delivery at approximately 36 weeks gestation. Language and communication evaluation: language processing deficits, significantly more salient non-verbal than verbal functions, impaired language function. Motor and musculoskeletal evaluation: mild dysarthria, some coordination difficulties, generalized hypotonia. Behavioral/psychiatric evaluation: short attention span, impulsive behavior, aggressiveness to classmates, did not tolerate changes in routine; formal neuropsychological evaluation revealed PDD-NOS, anxiety disorder, and dysthymia. Brain imaging: head CT at age of 2 years revealed left middle cranial fossa arachnoid cyst, which was later confirmed by MRI at age of 10 years. Dysmorphic features: mild dysmorphic features similar to twin brother. Family history: monozygotic twin brother with similar neuropsychiatric and cognitive phenotypes (caseIII-2); two maternal half-siblings reported as healthy with normal physical appearance and normal development; mother (II-3) with history of developmental delay and medical history significant for bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; maternal grandather (I-1)with medical history significant for alcoholism, drug addiction, and abusive behaviors to family members (with multiple family members with history of alcoholism); father (II-2) and maternal grandmother (I-2) in good physical health with no cognitive impairment and no history of neuropsychiatric disease.
 Borderline intellectual functioning (full-scale IQ of 84 on Wechsler Intelligence Scale for Children IV), with significantly more salient non-verbal than verbal functions, impaired language functions, impaired memory functions and impaired cognitive flexibility; able to follow one-, but not two-step commands; enrolled in special education classes.
 31732549
 31732549
  1
 GRCh38
 Triplication
 Yes
  stamouli_18_ASD/NDD_discovery_cases-family29_Twin_1
  NA NA
 N/A
 N/A
 ASD
 Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group. Affected twin has ASD with full-scale IQ of 70, dyslexia, and mild macrocephaly (84th %ile); co-twin has mild macrocephaly (98th %ile), an IQ of 77, as well as a past history of mild language delay described as language impairments specific for ASD and lack of social reciprocity, pretend, or fantasy play (not observed at the time of assessment).
 
 31057918
 31084162
  26245
 GRCh38
 Duplication
 Yes
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 32241971
 32515083
  273113
 GRCh38
 Duplication
 No
  van_den_bossche_12_BPD_discovery_cases-Bas1516
 59
 F
 BPD
 Age of onset: NA.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_BPD_discovery_cases-Sc7371
 34
 F
 BPD
 Age of onset: 22.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_ID_discovery_cases-Sc4266
 50
 M
 ID
 Age of onset: 23.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_ID_discovery_cases-Sc7430
 66
 F
 ID
 Age of onset: birth.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_ID_discovery_cases-Sc7625
 19
 M
 ID and ASD
 Age of onset: 13. Also ASD.
 
 30961627
 32032276
  1070650
 GRCh38
 Deletion
 No
  van_den_bossche_12_MDD_discovery_cases-Sc6810
 23
 M
 MDD
 Age of onset: 20.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_MDD_discovery_cases-Sc7027
 45
 M
 MDD
 Age of onset: 18.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_SCZ_discovery_cases-Das18
 25
 M
 SCZ
 Age of onset: 16.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_SCZ_discovery_cases-Das183
 41
 M
 SCZ
 Age of onset: 41.
 
 31111723
 31558410
  446688
 GRCh38
 Deletion
 No
  van_den_bossche_12_SCZ_discovery_cases-Sc11110
 31
 M
 SCZ
 Age of onset: 22. Chronic schizophrenia.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_SCZ_discovery_cases-Sc11510
 71
 M
 SCZ
 Age of onset: 33. Chronic schizophrenia.
 
 30961627
 32032276
  1070650
 GRCh38
 Duplication
 No
  van_den_bossche_12_SCZ_discovery_cases-Sc3694
 43
 F
 SCZ
 Age of onset: 30.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_SCZ_discovery_cases-Zas8999
 56
 F
 SCZ
 Age of onset: 19.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  van_den_bossche_12_SCZ_discovery_cases-Zas9020
 52
 M
 SCZ
 Age of onset: 24. Also alcohol dependence.
 
 31803667
 32032276
  228610
 GRCh38
 Duplication
 No
  wisniowiecka-kowalnik_12_ASD_discovery_cases-patient4
 12
 M
 Autism
 Autism, epilepsy, precocious puberty, muscle hypotonia, scoliosis, flat feet, genu valgity. Family history: brother with autism, paternal uncle with schizophrenia, maternal family history positive for intellectual disability (two cousins).
 Mild intellectual disability (ID)
 31926071
 32153051
  226981
 GRCh38
 Duplication
 Yes
  xu_16_ASD/DD/ID_discovery_cases-case8
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 29781532
 32154629
  2373098
 GRCh38
 Deletion
 No
  yingjun_17_ASD_discovery_cases-case1248
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
 
 31711334
 32151843
  440510
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case477
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 32853510
 33253897
  400388
 GRCh38
 Duplication
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1129-005
  NA NA
 N/A
 F
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 31711335
 32151843
  440509
 GRCh38
 Deletion
 Yes
  zhou_16_SCZ_discovery_cases-caseNSB3248
 13 yrs.
 F
 Childhood-onset schizophrenia
 Case diagnosed with schizophrenia after meeting criteria in the DSM-IIIR/DSM-IV before the age of 13 years. Birth/neonatal history: full-term but difficult pregnancy due to stressful evenrs and hyperemesis; vaginal delivery proceeded without further complications; birth weight of 3740 g (75th %ile), length of 50 cm (90th %ile). Developmental milestones: within normal limits. Behavioral/psychiatric evaluation: began exhibiting sudden-onset cognitive changes, immaturity, distractibility, and impaired social interactions, disrupting her ability to function at school, at age of 9 years; stopped speaking and communicated only in signs with little eye contact; diagnosed with schizophrenia at age of 10 years (visual and auditory hallucinations, severely worsening social impairment); additional psychotic behaviors, as well as flattened and inappropriate effect, when admitted to NIMH study at age of 12 years; exhibited more social interaction but still experienced hallucinations and exhibited occasional outbursts and inappropriate touching at school at 1-year follow-up. Brain imaging: normal. Dysmorphic features: none. Growth parameters: weight of 57.6 kg (92nd %ile), height of 157.2 cm (78th %ile), and OFC 75th-98th %ile at age of 10 years. Family history: third child of non-consanguineous parents; father who was 15q13.3 duplication carrier with no reported clinical diagnosis, though with a history of transient hallucinations and poor memory; two siblings who are also 15q13.3 duplication carriers (one with Tourette syndrome, the other with dyslexia; one male sibling too young to be tested for 15q13.3 duplication or any neurodevelopmental/neuropsychiatric phenotype.
 Full scale IQ of 124 at age of 9 years
 31720158
 32223648
  503491
 GRCh38
 Duplication
 No
  zhou_16_SCZ_discovery_cases-caseNSB852
 32 yrs.
 M
 Childhood-onset schizophrenia
 Case diagnosed with schizophrenia after meeting criteria in the DSM-IIIR/DSM-IV before the age of 13 years. Birth/neonatal history: uneventful pregnancy; exposure to tobacco (1 pack/day); vaginal delivery proceeded without complications; birth weight 3090 g (10th-25th %ile). Developmental milestones: within normal limits. Behavioral/psychiatric evaluation: witnessed significant domestic violenece from biological father from birth to age of 5 years; problems with hyperactivity, distractibility, and social impairment noted at school at age of 7 years; diagnosed with ADHD at age of 7 years (diagnostic tools N/A); hospitalized at age 11 for suicidal ideation, aggression towards peers, and threats of violence towards himself and others; diagnosed with major depression with psychotic symptoms at age of 11 years (visual and auditory hallucinations); re-hospitalized at age of 12 years for mood liability and vague aggression ideation; diagnosed with schizophrenia at this time (hysterical crying spells, complaints of being possessed by spirits or ghosts, and reports of feeling controlled by outside forces); severe social impairment; sleep disturbances; still experienced some visual hallucination when anxious in a 20-year follow-up. EEG: reported normal. Dysmorphic features: prominent ears, large hands and feet. Family history: proband was first child of non-consanguineous parents; father diagnosed with bipolar disorder and who had a history of alcohol abuse; one sibling diagnosed with ADHD who was a 15q13.3 duplication carrier.
 Full scale IQ of 103 at age of 7 years
 31727716
 32327926
  600211
 GRCh38
 Duplication
 No
  zhou_19_ASD_discovery_cases-caseAU032303
 4 yrs. 6 mos.
 M
 ASD and ID
 Diagnosis of ASD by ADI-R and ADOS. Developmental milestones: delayed speech and language development. Language and communication evaluation: almost no language. Behavioral/psychiatric evaluation: VABS standard score of 55, reduced sensitivity to pain, unusual sensory interests, hyperactivity, aggressive behavior, obsessive behavior. Additional medical history: rough skin. Family history: family history of developmental delay.
 Intellectual disability
 32028483
 32170233
  141751
 GRCh38
 Duplication
 Yes
  zhou_19_ASD_discovery_cases-caseAU044903
 5 yrs. 2 mos.
 M
 ASD
 Diagnosis of ASD by ADI-R and ADOS. Language and communication evaluation: speech and language delay and deficits. Motor and musculoskeletal evaluation: poor motor coordination, abnormal gait, suspected joint abnormality. Behavioral/psychiatric evaluation: hyperactivity, obsessive behavior, unusual sensory interests, hyper-responsivity to sensory stimuli. Family history: family history of language delay and epilepsy.
 
 32028483
 32170233
  141751
 GRCh38
 Duplication
 Yes
  zhou_19_ASD_discovery_cases-caseAU096503
 2 yrs. 9 mos.
 M
 ASD
 Diagnosis of ASD by ADI-R and ADOS. Developmental milestones: developmental delay (delayed speech and language development). Languague and communication evaluation: language impairment. Behavioral/psychiatric evaluation: aggressive behavior. Family history: family history of intellectual disability.
 
 32028483
 32163385
  134903
 GRCh38
 Duplication
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case1
 16 yrs.
 M
 ASD and ID
 Original reason for referral: developmental delay, intellectual disability. Developmental milestones: walking at 18 months; first word at 20 months; age of sitting, crawling, and two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 15 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 3 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: N/A. Behavioral Assessment for Children, Second Edition (BASC-2) results: not completed. History of seizures: no. History of hypotonia: no. Growth parameters: height <3rd %ile (Z score -3.6), weight <3rd %ile (Z score -5.39), OFC 58 %ile (Z score 0.2). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 43.5; NVRIQ, 41.7; FSRIQ, 42.5.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case10
 14 yrs.
 F
 Depression and seizures
 Original reason for referral: depression. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 15 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 1 (cutoff 3), Total D score of 3 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 96 (39th %ile, average qualitative range); Conceptual Composite Score of 91 (27th %ile, average qualitative range); Social Composite Score of 100 (50th %ile, average qualitative range); Practical Composite Score of 98 (45th %ile, average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 74 (%ile rank 97); Internalizing T score of 85 (%ile rank 99); Behavioral T score of 71 (%ile rank 96); Adaptive skills T score of 37 (%ile rank 11); Hyperactivity T score of 68 (%ile rank 93); Aggression T score of 64 (%ile rank 92); Conduct problems T score of 86 (%ile rank 98); Anxiety T score of 67 (%ile rank 94); Depression T score of 76 (%ile rank 97); Somatization T score of 95 (%ile rank 99); Atypicality T score of 84 (%ile rank 98); Withdrawal T score of 56 (%ile rank 79); Attention Problems T score of 52 (%ile rank 64); Adaptibility T score of 36 (%ile rank 10); Social skills T score of 43 (%ile rank 25); Leadership T score of 43 (%ile rank 24); Activities of daily living T score of (%ile rank ); Functional communication T score of 39 (%ile rank 16). History of seizures: absence seizures. History of hypotonia: no. Growth parameters: height 19th %ile (Z score -0.87), weight 66th %ile (Z score 0.42), OFC 93rd %ile (Z score 1.48). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 91.4; NVRIQ, 62.1; FSRIQ, 71.8.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case11
 13 yrs.
 M
 ASD
 Original reason for referral: ASD. Developmental milestones: sitting at 11 months, crawling at 12 months, walking at 13 months; first word at 13 months, 2 word sentences at 48 months. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 16 (cutoff 10), Total B verbal score of 16 (cutoff 8), Total C score of 8 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 60 (0.4th %ile, extremely low qualitative range); Conceptual Composite Score of 61 (0.5th %ile, extremely low qualitative range); Social Composite Score of 70 (2nd %ile, extremely low qualitative range); Practical Composite Score of 56 (0.2nd %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 57 (%ile rank 81); Internalizing T score of 69 (%ile rank 95); Behavioral T score of 62 (%ile rank 91); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 69 (%ile rank 95); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 49 (%ile rank 57); Anxiety T score of 78 (%ile rank 99); Depression T score of 73 (%ile rank 97); Somatization T score of 45 (%ile rank 35); Atypicality T score of 53 (%ile rank 73); Withdrawal T score of 62 (%ile rank 89); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 30 (%ile rank 4); Social skills T score of 39 (%ile rank 15); Leadership T score of 37 (%ile rank 10); Activities of daily living T score of 43 (%ile rank 23); Functional communication T score of 35 (%ile rank 9). History of seizures: no. History of hypotonia: no. Growth parameters: height 97th %ile (Z score 1.94), weight 96th %ile (Z score 1.76), OFC >99th %ile (Z score 3.62). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 84.9; NVRIQ, 80.4; FSRIQ, 81.9.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case13
 15 yrs.
 M
 Behavioral problems
 Original reason for referral: behavioral problems. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 9 (cutoff 10), Total B verbal score of 6 (cutoff 8), Total C score of 2 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of106 (66th %ile, average qualitative range); Conceptual Composite Score of 104 (61st %ile, average qualitative range); Social Composite Score of 106 (66th %ile, average qualitative range); Practical Composite Score of 98 (45th %ile, average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 63 (%ile rank 90); Internalizing T score of 48 (%ile rank 50); Behavioral T score of 59 (%ile rank 83); Adaptive skills T score of 36 (%ile rank 8); Hyperactivity T score of 71 (%ile rank 96); Aggression T score of 55 (%ile rank 75); Conduct problems T score of 58 (%ile rank 83); Anxiety T score of 44 (%ile rank 29); Depression T score of 52 (%ile rank 69); Somatization T score of 49 (%ile rank 55); Atypicality T score of 56 (%ile rank 80); Withdrawal T score of 42 (%ile rank 21); Attention Problems T score of 63 (%ile rank 88); Adaptibility T score of 42 (%ile rank 22); Social skills T score of 39 (%ile rank 15); Leadership T score of 39 (%ile rank 14); Activities of daily living T score of 32 (%ile rank 5); Functional communication T score of 37 (%ile rank 12). History of seizures: no. History of hypotonia: no. Growth parameters: height 17th %ile (Z score -0.97), weight 4th %ile (Z score -1.76), OFC 38th %ile (Z score -0.32). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 96; NVRIQ, 81; FSRIQ, 88.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case14
 18 yrs.
 M
 Behavioral problems and seizures
 Original reason for referral: oppositional and aggressive behavior, defiant behavior. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: N/A. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 48 (<0.1st %ile, extremely low qualitative range); Conceptual Composite Score of 55 (0.1st %ile, extremely low qualitative range); Social Composite Score of 55 (0.1st %ile, extremely low qualitative range); Practical Composite Score of 50 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 93 (%ile rank 99); Internalizing T score of 62 (%ile rank 89); Behavioral T score of 87 (%ile rank 99); Adaptive skills T score of 32 (%ile rank 1); Hyperactivity T score of 99 (%ile rank 99); Aggression T score of 84 (%ile rank 99); Conduct problems T score of 83 (%ile rank 99); Anxiety T score of 57 (%ile rank 79); Depression T score of 76 (%ile rank 97); Somatization T score of 46 (%ile rank 40); Atypicality T score of 73 (%ile rank 96); Withdrawal T score of 65 (%ile rank 91); Attention Problems T score of 72 (%ile rank 98); Adaptibility T score of 28 (%ile rank 2); Social skills T score of 35 (%ile rank 7); Leadership T score of 27 (%ile rank 1); Activities of daily living T score of 22 (%ile rank 1); Functional communication T score of 25 (%ile rank 1). History of seizures: generalized tonic-clonic seizures. History of hypotonia: no. Growth parameters: height 43rd %ile (Z score -0.17), weight 62nd %ile (Z score 0.32), OFC 12th %ile (Z score -1.15). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 76; NVRIQ, 61; FSRIQ, 67.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case15
 14 yrs.
 F
 ID and ADHD
 Original reason for referral: mild intellectual disability, ADHD, anxiety, depression, hypothyroidism. Developmental milestones: sitting at 7 months, crawling at `0 months, walking at 16 months; first word at 24 months, 2 word sentences at 30 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 7 (cutoff 10), Total B verbal score of 12 (cutoff 8), Total C score of 4 (cutoff 3), Total D score of 3 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 63 (1st %ile, extremely low qualitative range); Conceptual Composite Score of67 (1st %ile, extremely low qualitative range); Social Composite Score of 75 (5th %ile, borderline qualitative range); Practical Composite Score of 54 (1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 58 (%ile rank 81); Internalizing T score of 88 (%ile rank 99); Behavioral T score of 76 (%ile rank 98); Adaptive skills T score of 27 (%ile rank 2); Hyperactivity T score of 74 (%ile rank 97); Aggression T score of 46 (%ile rank 39); Conduct problems T score of 50 (%ile rank 60); Anxiety T score of 79 (%ile rank 99); Depression T score of 79 (%ile rank 99); Somatization T score of 86 (%ile rank 99); Atypicality T score of 75 (%ile rank 97); Withdrawal T score of 68 (%ile rank 95); Attention Problems T score of 77 (%ile rank 99); Adaptibility T score of 38 (%ile rank 13); Social skills T score of 41 (%ile rank 20); Leadership T score of 29 (%ile rank 1); Activities of daily living T score of 18 (%ile rank 1); Functional communication T score of 29 (%ile rank 3). History of seizures: no. History of hypotonia: yes. Growth parameters: height 74th %ile (Z score 0.64), weight 85th %ile (Z score 1.05), OFC 75th %ile (Z score 0.69). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 62.8; NVRIQ, 69.79; FSRIQ, 67.46.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case17
 14 yrs.
 M
 Depression
 Original reason for referral: ASD, depression, no risk/danger appreciation, suicidal ideation. Developmental milestones: sitting at 14 months, crawling at 18 months, walking at 24 months; first word at 18 months, 2 word sentences at 36 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 18 (cutoff 10), Total B verbal score of 16 (cutoff 8), Total C score of 1 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 73 (4th %ile, borderline qualitative range); Conceptual Composite Score of 78 (7th %ile, borderline qualitative range); Social Composite Score of 70 (2nd %ile, extremely low qualitative range); Practical Composite Score of 80 (9th %ile,below average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 67 (%ile rank 94); Internalizing T score of 92 (%ile rank 99); Behavioral T score of 73 (%ile rank 97); Adaptive skills T score of 31 (%ile rank 4); Hyperactivity T score of 68 (%ile rank 94); Aggression T score of 55 (%ile rank 75); Conduct problems T score of 73 (%ile rank 96); Anxiety T score of 79 (%ile rank 99); Depression T score of 71 (%ile rank 96); Somatization T score of 104 (%ile rank 99); Atypicality T score of 63 (%ile rank 90); Withdrawal T score of 88 (%ile rank 99); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 49 (%ile rank 44); Social skills T score of 35 (%ile rank 7); Leadership T score of 25 (%ile rank 1); Activities of daily living T score of 34 (%ile rank 7); Functional communication T score of 27 (%ile rank 2). History of seizures: no. History of hypotonia: no. Growth parameters: height 11th %ile (Z score -1.24), weight 56th %ile (Z score 0.15), OFC 30th %ile (Z score -0.51). Family history: adopted, known to have an affected brother. 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 64.79; NVRIQ, 56.57; FSRIQ, 59.31.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case18
 14 yrs.
 M
 ID and ADHD
 Original reason for referral: mild intellectual disability, ADHD. Developmental milestones: sitting at 12 months, crawling at 13 months, walking at 17 months; first word at 48 months, 2 word sentences at 60 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 6 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 2 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 40 (1st %ile,extremely low qualitative range); Conceptual Composite Score of 14 (2nd %ile, extremely low qualitative range); Social Composite Score of 14 (19th %ile, below average qualitative range); Practical Composite Score of 12 (0.2nd %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 53 (%ile rank 68); Internalizing T score of 61 (%ile rank 87); Behavioral T score of 57 (%ile rank 78); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 56 (%ile rank 76); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 49 (%ile rank 57); Anxiety T score of 50 (%ile rank 55); Depression T score of 50 (%ile rank 60); Somatization T score of 76 (%ile rank 98); Atypicality T score of 56 (%ile rank 80); Withdrawal T score of 52 (%ile rank 64); Attention Problems T score of 66 (%ile rank 93); Adaptibility T score of 43 (%ile rank 24); Social skills T score of 43 (%ile rank 27); Leadership T score of 37 (%ile rank 10); Activities of daily living T score of 27 (%ile rank 1); Functional communication T score of 34 (%ile rank 7). History of seizures: no. History of hypotonia: no. Growth parameters: height 61st %ile (Z score 0.28), weight 90th %ile (Z score 1.26), OFC >99th %ile (Z score 2.99). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 38; NVRIQ, 35; FSRIQ, 36.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case2
 13 yrs.
 M
 ASD and ID
 Original reason for referral: mild developmental delay, intellectual disability. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 19 (cutoff 10), Total B verbal score of 12 (cutoff 8), Total C score of 3 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 57 (0.2th %ile, extremely low qualitative range); Conceptual Composite Score of 65 (1st %ile, extremely low qualitative range); Social Composite Score of 68 (2nd %ile, extremely low qualitative range); Practical Composite Score of 48 (<0.1th %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 47 (%ile rank 44); Internalizing T score of 41 (%ile rank 16); Behavioral T score of 58 (%ile rank 80); Adaptive skills T score of 33 (%ile rank 5); Hyperactivity T score of 50 (%ile rank 57); Aggression T score of 47 (%ile rank 47); Conduct problems T score of 44 (%ile rank 29); Anxiety T score of 41 (%ile rank 17); Depression T score of 45 (%ile rank 39); Somatization T score of 41 (%ile rank 16); Atypicality T score of 57 (%ile rank 81); Withdrawal T score of 81 (%ile rank 99); Attention Problems T score of 55 (%ile rank 70); Adaptibility T score of 39 (%ile rank 16); Social skills T score of 29 (%ile rank 1); Leadership T score of 31 (%ile rank 2); Activities of daily living T score of 40 (%ile rank 17); Functional communication T score of 37 (%ile rank 11). History of seizures: reported staring spells. History of hypotonia: no. Growth parameters: height 34th %ile (Z score -0.42), weight 68th %ile (Z score 0.46), OFC 95th %ile (Z score 1.64). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 68; NVRIQ, 83; FSRIQ, 75.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case3
 14 yrs.
 M
 ID
 Original reason for referral: mild intellectual disability. Developmental milestones: sitting at 12 months, walking at 36 months; first word at 18 months, 2 word sentences at 36 months; age of crawling unknown. ADOS Summary: autism/ASD. ADI-R summary: not autism/ASD; Total A score of 7 (cutoff 10), Total B verbal score of 7 (cutoff 8), Total C score of 3 (cutoff 3), Total D score of 3 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 68 (2nd %ile, extremely low qualitative range); Conceptual Composite Score of 70 (2nd %ile, extremely low qualitative range); Social Composite Score of 87 (19th %ile, below average qualitative range); Practical Composite Score of 62 (1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 59 (%ile rank 84); Internalizing T score of 68 (%ile rank 95); Behavioral T score of 66 (%ile rank 93); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 58 (%ile rank 82); Aggression T score of 64 (%ile rank 90); Conduct problems T score of 53 (%ile rank 72); Anxiety T score of 70 (%ile rank 96); Depression T score of 69 (%ile rank 95); Somatization T score of 54 (%ile rank 73); Atypicality T score of 56 (%ile rank 80); Withdrawal T score of 62 (%ile rank 89); Attention Problems T score of 66 (%ile rank 93); Adaptibility T score of 35 (%ile rank 8); Social skills T score of 39 (%ile rank 15); Leadership T score of 42 (%ile rank 22); Activities of daily living T score of 31 (%ile rank 4); Functional communication T score of 40 (%ile rank 18). History of seizures: no. History of hypotonia: yes. Growth parameters: height 62nd %ile (Z score 0.3), weight 99th %ile (Z score 2.45), OFC 99th %ile (Z score 2.28). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 67; NVRIQ, 50; FSRIQ, 56.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case5
 12 yrs.
 F
 Bipolar disorder
 Original reason for referral: bipolar disorder. Developmental milestones: sitting at 6 months, crawling at 9 months, walking at 16 months; first word at 14 months; age of two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: N/A. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: N/A. Behavioral Assessment for Children, Second Edition (BASC-2) results: not completed. History of seizures: no. History of hypotonia: no. Growth parameters: height 92nd %ile (Z score 1.42), weight 99th %ile (Z score 2.46), OFC 98th %ile (Z score 2.14). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 101; NVRIQ, 95; FSRIQ, 97.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case6
 15 yrs.
 F
 ID
 Original reason for referral: mild intellectual disability. Developmental milestones: sitting at 11 months, crawling at 14 months, walking at 17 months; first word at 40 months, 2 word sentences at 60 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 16 (cutoff 10), Total B verbal score of 15 (cutoff 8), Total C score of 0 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 78 (7th %ile, borderline qualitative range); Conceptual Composite Score of 84 (14th %ile, below average qualitative range); Social Composite Score of 84 (14th %ile, below average qualitative range); Practical Composite Score of 82 (12th %ile, below average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 46 (%ile rank 39); Internalizing T score of 41 (%ile rank 17); Behavioral T score of 51 (%ile rank 61); Adaptive skills T score of 33 (%ile rank 5); Hyperactivity T score of 51 (%ile rank 64); Aggression T score of 44 (%ile rank 30); Conduct problems T score of 44 (%ile rank 34); Anxiety T score of 49 (%ile rank 50); Depression T score of 41 (%ile rank 18); Somatization T score of 37 (%ile rank 4); Atypicality T score of 45 (%ile rank 42); Withdrawal T score of 68 (%ile rank 94); Attention Problems T score of 57 (%ile rank 76); Adaptibility T score of 50 (%ile rank 47); Social skills T score of 35 (%ile rank 8); Leadership T score of 32 (%ile rank 4); Activities of daily living T score of 33 (%ile rank 6); Functional communication T score of 29 (%ile rank 3). History of seizures: no. History of hypotonia: yes. Growth parameters: height 6th %ile (Z score -1.52), weight 35th %ile (Z score -0.37), OFC 27th %ile (Z score -0.6). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 35; NVRIQ, 53; FSRIQ, 39.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case7
 13 yrs.
 M
 Behavioral problems and seizures
 Original reason for referral: abnormal behavior. Developmental milestones: sitting at 10 months, walking at 24 months; first word at 48 months; age of crawling and two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: autism/ASD; Total A score of 19 (cutoff 10), Total B verbal score of 19 (cutoff 8), Total C score of 7 (cutoff 3), Total D score of 5 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 40 (<0.1st %ile, extremely low qualitative range); Conceptual Composite Score of 49 (<0.1st %ile, extremely low qualitative range); Social Composite Score of 55 (0.1st %ile, extremely low qualitative range); Practical Composite Score of 40 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 67 (%ile rank 94); Internalizing T score of 39 (%ile rank 11); Behavioral T score of 70 (%ile rank 96); Adaptive skills T score of 27 (%ile rank 1); Hyperactivity T score of 84 (%ile rank 99); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 61 (%ile rank 88); Anxiety T score of 31 (%ile rank 1); Depression T score of 48 (%ile rank 52); Somatization T score of 45 (%ile rank 35); Atypicality T score of 63 (%ile rank 89); Withdrawal T score of 76 (%ile rank 98); Attention Problems T score of 71 (%ile rank 99); Adaptibility T score of 49 (%ile rank 43); Social skills T score of 37 (%ile rank 10); Leadership T score of 25 (%ile rank 1); Activities of daily living T score of 20 (%ile rank 1); Functional communication T score of 19 (%ile rank 1). History of seizures: abesnce seizures. History of hypotonia: no. Growth parameters: height 44th %ile (Z score -0.16), weight 85th %ile (Z score 1.04), OFC 99th %ile (Z score 2.53). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 27; NVRIQ, 25; FSRIQ, 26.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case8
 12 yrs.
 M
 ASD, ID, and ADHD
 Original reason for referral: developmental delay, intellectual disability, ADHD. Developmental milestones: sitting at 10 months, crawling at 12 months, walking at 20 months; first word at 13 months; age of two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 14 (cutoff 10), Total B verbal score of 16 (cutoff 8), Total C score of 4 (cutoff 3), Total D score of 5 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 51 (0.1st %ile, extremely low qualitative range); Conceptual Composite Score of 57 (0.2nd %ile, extremely low qualitative range); Social Composite Score of 66 (1st %ile, extremely low qualitative range); Practical Composite Score of 46 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 55 (%ile rank 77); Internalizing T score of 50 (%ile rank 55); Behavioral T score of 57 (%ile rank 78); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 64 (%ile rank 90); Aggression T score of 54 (%ile rank 73); Conduct problems T score of 47 (%ile rank 48); Anxiety T score of 44 (%ile rank 29); Depression T score of 44 (%ile rank 32); Somatization T score of 61 (%ile rank 86); Atypicality T score of 50 (%ile rank 64); Withdrawal T score of 62 (%ile rank 89); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 39 (%ile rank 15); Social skills T score of 47 (%ile rank 42); Leadership T score of 33 (%ile rank 5); Activities of daily living T score of 31 (%ile rank 4); Functional communication T score of 34 (%ile rank 7). History of seizures: no. History of hypotonia: no. Growth parameters: height 3rd %ile (Z score -1.96), weight 77th %ile (Z score 0.74), OFC 41st %ile (Z score -0.21). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 25; NVRIQ, 30; FSRIQ, 25.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case9
 12 yrs.
 M
 ID
 Original reason for referral: intellectual disability. Developmental milestones: sitting at 9 months, crawling at months, walking at 24 months; first word at 17 months, 2 word sentences at 54 months; age of crawling unknown. ADOS Summary: not autism or ASD. ADI-R summary: autism/ASD; Total A score of 25 (cutoff 10), Total B verbal score of 20 (cutoff 8), Total C score of 9 (cutoff 3), Total D score of 5 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 59 (0.3rd %ile, extremely low qualitative range); Conceptual Composite Score of 69 (2nd %ile, extremely low qualitative range); Social Composite Score of 68 (2nd %ile, extremely low qualitative range); Practical Composite Score of 48 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 68 (%ile rank 95); Internalizing T score of 76 (%ile rank 98); Behavioral T score of 80 (%ile rank 99); Adaptive skills T score of 30 (%ile rank 3); Hyperactivity T score of 66 (%ile rank 93); Aggression T score of 75 (%ile rank 97); Conduct problems T score of 59 (%ile rank 85); Anxiety T score of 59 (%ile rank 82); Depression T score of 84 (%ile rank 99); Somatization T score of 70 (%ile rank 95); Atypicality T score of 75 (%ile rank 97); Withdrawal T score of 76 (%ile rank 98); Attention Problems T score of 66 (%ile rank 93); Adaptibility T score of 28 (%ile rank 2); Social skills T score of 39 (%ile rank 15); Leadership T score of 40 (%ile rank 18); Activities of daily living T score of 24 (%ile rank 1); Functional communication T score of 32 (%ile rank 5). History of seizures: no. History of hypotonia: no. Growth parameters: height 54th %ile (Z score 0.09), weight 96th %ile (Z score 1.73), OFC 44th %ile (Z score 0.16). 15q13.3 microdeletion breakpoints: BP4-BP5.
 Differential Ability Scales-II results: VRIQ, 85; NVRIQ, 67; FSRIQ, 73.
 N/A
 N/A
  N/A
 GRCh37
 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
  bacchelli_20_ASD_discovery_controls-control10058
  N/A
  F
  Control
  Control
 
  31812161
  32125837
  313677
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control10061
  N/A
  F
  Control
  Control
 
  31774872
  32222140
  447269
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control10116
  N/A
  M
  Control
  Control
 
  31756922
  32222140
  465219
  GRCh38
  Duplication
  No
  bacchelli_20_ASD_discovery_controls-control10471
  N/A
  F
  Control
  Control
 
  31884101
  32222140
  338040
  GRCh38
  Duplication
  No
  chen_17_ASD_discovery_controls1-control3
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  32166460
  32565269
  398810
  GRCh38
  Duplication
 
  chen_17_ASD_discovery_controls1-control4
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  32166460
  32565269
  398810
  GRCh38
  Deletion
 
  chen_17_ASD_discovery_controls1-control5
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  32166460
  32565269
  398810
  GRCh38
  Deletion
 
  chen_17_ASD_discovery_controls1-control6
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  32166460
  32565269
  398810
  GRCh38
  Deletion
 
  chen_17_ASD_discovery_controls1-control7
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  32166460
  32565269
  398810
  GRCh38
  Deletion
 
  chen_17_ASD_discovery_controls1-control8
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  32166460
  32565269
  398810
  GRCh38
  Deletion
 
  girirajan_12_ASD/DD/ID_discovery_controls-control26
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control27
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control28
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control29
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control30
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control31
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control32
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control33
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control34
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control35
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control36
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control37
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control38
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control39
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control40
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control41
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control42
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control43
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control44
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control45
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control46
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control47
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control48
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control49
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control50
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control51
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control52
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control53
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control54
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control55
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control56
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control57
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control58
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control59
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control60
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control61
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control62
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control63
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control64
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control65
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control66
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control67
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control68
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control69
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control70
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control71
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control72
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control73
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control74
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control75
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control76
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control77
  NA
  NA
  Control
  NA
  NA
  31720505
  32160507
  440003
  GRCh38
  Duplication
  NA
  girirajan_13b_ASD_discovery_controls-15607108080
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  31147883
  31350196
  202314
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-15607108080
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  31145140
  31360288
  215149
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-24809111471
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  31647297
  32146043
  498747
  GRCh38
  Duplication
  No
  guo_17_ASD_discovery_controls-controlPY2562
  N/A
  N/A
  Control
  No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 
  30939052
  32222725
  1283674
  GRCh38
  Duplication
  Yes
  kanduri_15_ASD_discovery_controls-control_split1069
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  32510510
  32620127
  109618
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1797
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  32051488
  32514341
  462854
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split341
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  32087882
  32620127
  532246
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12833.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12833. SRS score of 49.
 
  32030897
  32111899
  81003
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13487.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13487. SRS score of 38.
 
  31064707
  31076921
  12215
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11197.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  31064707
  31076921
  12215
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11341.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32030897
  32111899
  81003
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13106.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32030897
  32111899
  81003
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13487.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  31064707
  31076921
  12215
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14186.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  31063117
  31076921
  13805
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14232.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32030897
  32111899
  81003
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14268.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32030897
  32111899
  81003
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14280.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  31060543
  31076921
  16379
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14491.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32030897
  32111899
  81003
  GRCh38
  Duplication
  Yes
  kushima_18_ASD/SCZ_discovery_controls-controlCON1167
  33 yrs.
  M
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  31917063
  32434672
  517610
  GRCh38
  Deletion
  N/A
  poultney_13_ASD_discovery_controls-control04C28197A
  N/A
  F
  Control
  NIMH Control (NIMH ID 54460)
 
  32030896
  32157777
  126882
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C37985A
  N/A
  F
  Control
  NIMH Control (NIMH ID 75535)
 
  32030896
  32163337
  132442
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11197.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  31064222
  31092594
  28373
  GRCh38
  Deletion
  No
  van_den_bossche_12_BPD_discovery_controls-Sc11009
  23
  M
  Control
 
 
  31803667
  32032276
  228610
  GRCh38
  Duplication
  No
  van_den_bossche_12_ID_discovery_controls-Sc11009
  23
  M
  Control
 
 
  31803667
  32032276
  228610
  GRCh38
  Duplication
  No
  van_den_bossche_12_MDD_discovery_controls-Sc11009
  23
  M
  Control
 
 
  31803667
  32032276
  228610
  GRCh38
  Duplication
  No
  van_den_bossche_12_SCZ_discovery_controls-Sc11009
  23
  M
  Control
 
 
  31803667
  32032276
  228610
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 ahn_13_SCZ_discovery_cases-NSB_ID1546
 array SNP, aCGH, and/or qPCR
 
 De novo
 Unknown
 Unknown
 RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
 ahn_13_SCZ_discovery_cases-NSB_ID498
 Validation based on familial presence of CNV
 
 Maternal
 Unknown
 Unknown
 RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P1,LINC02256,GOLGA8N,CHRNA7,ARHGAP11A
 
 bacchelli_15_ASD_discovery_cases-case3474_3
 Solid phase hybridization (Illumina 1M-Duo)
 
 Paternal
 Possible multi-generational
 Unknown
 OTUD7A,CHRNA7
 
 bartnik_12_EP_discovery_cases-case23
 
 
 Maternal
 
 
 CHRNA7
 
 beal_13_ASD_discovery_cases-case1
 FISH
 
 Unknown
 Unknown
 Unknown
 N/A
 
 ben-shacher_09_ASD_discovery_cases-caseF12-1
 FISH
 
 Maternal
 Multiplex
 Segregated
 
 
 ben-shacher_09_ASD_discovery_cases-caseF12-2
 FISH
 
 Maternal
 Multiplex
 Segregated
 
 
 ben-shacher_09_ASD_discovery_cases-caseF2-1
 FISH
 
 Unknown
 NA
 NA
 
 
 ben-shacher_09_ASD_discovery_cases-caseF8-1
 FISH
 
 Unknown
 Multiplex
 NA
 
 
 ben-shacher_09_ASD_discovery_cases-caseF9-1
 FISH
 
 Unknown
 NA
 NA
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF10-1
 FISH
 
 Paternal
 Multiplex (siblings with learning disability)
 Not segregated
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF11-1
 FISH
 
 Paternal
 NA
 NA
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF3-1
 FISH
 
 De novo
 NA
 NA
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF4-1
 FISH
 
 Maternal
 NA
 NA
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF5-1
 FISH
 
 Maternal
 NA
 NA
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF6-1
 FISH
 
 Paternal
 NA
 NA
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF7-1
 FISH
 
 Unknown
 NA
 NA
 
 
 ben-shacher_09_non-ASD_discovery_cases-caseF8-2
 FISH
 
 Unknown
 Multiplex
 NA
 
 
 bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient5
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 budisteanu_21_ASD/DD/ID_discovery_cases-case1
 
 
 Unknown
 
 
 CHRNA7,OTUD7A,DEPDC1P1
 
 budisteanu_21_ASD/DD/ID_discovery_cases-case2
 
 
 Unknown
 
 
 CHRNA7,OTUD7A
 
 budisteanu_21_ASD/DD/ID_discovery_cases-case3
 
 
 Unknown
 
 
 CHRNA7,OTUD7A,DEPDC1P1
 
 budisteanu_21_ASD/DD/ID_discovery_cases-case4
 
 
 Unknown
 Multiplex
 
 CHRNA7,OTUD7A,DEPDC1P1
 
 budisteanu_21_ASD/DD/ID_discovery_cases-case5
 
 
 Unknown
 Multiplex
 
 CHRNA7,OTUD7A,DEPDC1P1
 
 celestino-soper_11_ASD_discovery_cases-11178
 Solid phase hybridization (Illumina 1M SNP)
 
 De novo
 Simplex
 NA
 CHRNA7
 
 chen_17_ASD_discovery_cases-caseU-1850
 RT-qPCR
 
 Maternal
 
 
 HNRNPA1P71,TMCO5B,FMN1
 
 chen_17_ASD_discovery_cases-caseU-2158
 RT-qPCR
 
 Unknown
 
 
 RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
 chen_21_ASD/DD/ID_discovery_cases-case18
 
 
 Unknown
 
 
 DEPDC1P1,OTUD7A,CHRNA7
 
 chilian_13_DD/ID_discovery_cases-case1
 qPCR
 
 Paternal
 Possibly simplex (no info on 1st child)
 Unknown
 OTUD7A,CHRNA7
 
 christian_08_ASD_discovery_cases-AU052003
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 MIR211,LINC02352,KLF13,TRPM1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299973
 
 
 Unknown
 
 
 OTUD7A,CHRNA7
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300212
 
 
 Maternal
 
 
 OTUD7A,CHRNA7
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300527
 
 
 Paternal
 
 
 OTUD7A,CHRNA7
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300534
 
 
 Paternal
 
 
 OTUD7A,CHRNA7
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_301271
 
 
 Paternal
 
 
 OTUD7A,CHRNA7
 
 egger_14_ASD_discovery_cases-caseA2
 qPCR
 
 Paternal
 
 Unknown
 OTUD7A,CHRNA7
 
 feliciano_19_ASD_discovery_cases-caseSP0000759
 
 
 Paternal
 Simplex
 
 MIR211,TRPM1
 null
 feliciano_19_ASD_discovery_cases-caseSP0013984
 
 
 Maternal
 
 
 MIR211,TRPM1
 null
 firouzabadi_16_ASD_discovery_cases-patient3
 
 
 Paternal
 Simplex
 Unknown
 OTUD7A,CHRNA7
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
 
 
 Maternal
 Simplex
 Unknown
 RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,OTUD7A,CHRNA7
 
 fry_16_DD/ID/EP/ASD_discovery_cases-caseR528
 Solid phase hybridization (Illumina)
 
 Unknown
 
 
 OTUD7A,CHRNA7
 
 fry_16_DD/ID/EP/ASD_discovery_cases-caseR650
 
 
 Unknown
 
 
 OTUD7A,CHRNA7
 
 gazzellone_14_ASD_discovery_cases-case534-3
 
 
 Unknown
 Unknown
 Unknown
 CHRNA7
 
 ghasemi_firouzabadi_16_ASD_discovery_cases-p35
 
 
 Paternal
 Simplex
 Unknown
 N/A
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 MLPA
 
 Maternal
 Multi-generational
 Not segregated or incomplete segregation
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient10
 MLPA
 
 Paternal
 Simplex
 Unknown
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient11
 MLPA
 
 Paternal
 Multi-generational
 Not segregated or incomplete segregation
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient12
 MLPA
 
 Unknown
 Unknown
 Unknown
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient13
 MLPA
 
 Paternal
 Multi-generational
 Not segregated or incomplete segregation
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient14
 MLPA
 
 Maternal
 Multi-generational
 Not segregated or incomplete segregation
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient15
 MLPA
 
 Paternal
 Multi-generational
 Segregated
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient17
 MLPA
 
 Paternal
 Multiplex
 Segregated
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient18
 MLPA
 
 Maternal
 Multi-generational
 Not segregated or incomplete segregation
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 MLPA
 
 Maternal
 Multi-generational
 Segregated
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 MLPA
 
 Maternal
 Multi-generational
 Not segregated or incomplete segregation
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 MLPA
 
 Paternal
 Multiplex
 Segregated
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
 MLPA
 
 Paternal
 Simplex
 Unknown
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7
 MLPA
 
 Maternal
 Simplex
 Unknown
 CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient8
 MLPA
 
 Paternal
 Multi-generational
 Segregated
 OTUD7A,CHRNA7
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient9
 MLPA
 
 Maternal
 Simplex
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_11_ASD_discovery_cases-Si129
 
 
 Unknown
 Simplex
 
 OTUD7A,CHRNA7
 
 girirajan_11_ASD_discovery_cases-Si229
 
 
 Unknown
 Simplex
 
 OTUD7A,CHRNA7
 
 girirajan_11_ASD_discovery_cases-Si82
 
 
 Unknown
 Simplex
 
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0681
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0682
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0683
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0684
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0685
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0686
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0687
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0688
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0689
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0690
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0691
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0692
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0693
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0694
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0695
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0696
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0697
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0698
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0699
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0700
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0701
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0702
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0703
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0704
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0705
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0706
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0707
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0708
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0709
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0710
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0711
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0712
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0713
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0714
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0715
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0716
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0717
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0718
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0719
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0720
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0721
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0722
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0723
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0724
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0725
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0726
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0727
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0728
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0729
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0730
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0731
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0732
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0733
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0734
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0735
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0736
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0737
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0738
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0739
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0740
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0741
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0742
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0743
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0744
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0745
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0746
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0747
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0748
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0749
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0750
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0751
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0752
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0753
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0754
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0755
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0756
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0757
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0758
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0759
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0760
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0761
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0762
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0763
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0764
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0765
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0766
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0767
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0768
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0769
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0770
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0771
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0772
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0773
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0774
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0775
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0776
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0777
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0778
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0779
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0780
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0781
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0782
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0783
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0784
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0785
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0786
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0787
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0788
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0789
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0790
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0791
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0792
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0793
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0794
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0795
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0796
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0797
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0798
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0799
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0800
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0801
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0802
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0803
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0804
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0805
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0806
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0807
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0808
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0809
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0810
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0811
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0812
 NA
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case28304
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case31441
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case38091
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case40242
 FISH, aCGH, or confirmation by inheritance
 
 Paternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case46810
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_13a_ASD_discovery_cases-13686.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 MIR211,TRPM1
 
 girirajan_13a_ASD_discovery_cases-AU0316301
 aCGH (NimbleGen 135K array)
 
 Paternal
 Multiplex
 Unknown
 MIR211,TRPM1
 
 girirajan_13a_ASD_discovery_cases-AU079904
 aCGH (NimbleGen 135K array)
 
 Both parents
 Multiplex
 Unknown
 MIR211,TRPM1
 
 girirajan_13a_ASD_discovery_cases-AU1006301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 TRPM1
 
 girirajan_13a_ASD_discovery_cases-AU2275301
 aCGH (NimbleGen 135K array)
 
 Paternal
 Multiplex
 Unknown
 MIR211,TRPM1
 
 girirajan_13b_ASD_discovery_cases-10609111027
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 girirajan_13b_ASD_discovery_cases-10609111027
 
 
 Unknown
 Unknown
 Unknown
 RNU6-18P,OTUD7A,CHRNA7
 
 girirajan_13b_ASD_discovery_cases-9106105625
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 gorker_18_ASD_discovery_cases-case20
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 handrigan_13_ASD/DD/ID_discovery_cases-patient32
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 hnoonual_17_ASD_discovery_cases-caseRA29
 
 
 Unknown (not paternal)
 
 
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandA
 FISH
 
 Paternal
 Extended
 Possibly segregated
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandF
 FISH
 
 Paternal (unconfirmed)
 Multiplex
 Segregated
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandK
 FISH
 
 Unknown (negative paternal testing)
 Unknown
 Unknown
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandL
 FISH
 
 Unknown
 Unknown
 Unknown
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandM
 FISH
 
 De novo
 Unknown
 Possibly segregated
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandN
 FISH
 
 Maternal
 Unknown
 Unknown
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandO
 FISH
 
 Paternal
 Unknown
 Unknown
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandR
 FISH
 
 Unknown
 Unknown
 Unknown
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandS
 FISH
 
 Unknown
 Unknown
 Unknown
 CHRNA7
 
 hoppman-chaney_12_CHRNA7_discovery_cases-probandT
 FISH
 
 Unknown
 Unknown
 Unknown
 CHRNA7
 
 kamien_14_ASD_discovery_cases-case2
 
 
 Unknown
 Multi-generational
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000593
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002161
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002262
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002507
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003877
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004441
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-18P,OTUD7A,CHRNA7
 
 krumm_13_ASD_discovery_cases-case12833.p1
 
 
 Paternal
 Simplex
 Not segregated
 CHRNA7
 
 krumm_15_ASD_discovery_cases-case11298.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 CHRNA7
 
 krumm_15_ASD_discovery_cases-case12219.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 CHRNA7
 
 krumm_15_ASD_discovery_cases-case13661.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 CHRNA7
 
 krumm_15_ASD_discovery_cases-case14086.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 CHRNA7
 
 krumm_15_ASD_discovery_cases-case14125.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 CHRNA7
 
 krumm_15_ASD_discovery_cases-case14213.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 CHRNA7
 
 krumm_15_ASD_discovery_cases-case14268.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CHRNA7
 
 leblond_12_ASD_discovery_cases-AUGB038_3
 
 
 Maternal
 Simplex
 
 OTUD7A,CHRNA7
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 aCGH (Agilent 1M)
 
 Paternal
 
 
 OTUD7A,CHRNA7
 
 lintas_17_ASD_discovery_cases-case13.1
 Validation by visual inspection, RT-PCR, or PCR
 
 Paternal
 Multiplex
 Not segregated (CNV only observed in 1/2 affected siblings)
 OTUD7A,CHRNA7
 
 lintas_17_ASD_discovery_cases-case5.1
 Validation by visual inspection, RT-PCR, or PCR
 
 Paternal
 Multiplex
 Segregated (CNV observed in all both affected siblings)
 OTUD7A,CHRNA7
 
 lintas_17_ASD_discovery_cases-case5.2
 Validation by visual inspection, RT-PCR, or PCR
 
 Paternal
 Multiplex
 Segregated (CNV observed in all both affected siblings)
 OTUD7A,CHRNA7
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case3
 
 
 Unknown
 
 
 OTUD7A,CHRNA7
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 
 
 Unknown
 Simplex
 Unknown
 
 
 li_18_ASD_discovery_cases-case4601
 
 
 Unknown
 Simplex
 Unknown
 OTUD7A,CHRNA7
 
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case1
 FISH
 Possibly paternal
 Unknown
 Multi-generational
 Incomplete segregation
 RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case5
 
 
 Unknown
 Simplex
 Unknown
 Approximate gene content: LOC100288637, HERC2P10, MTMR10, FAN1, TRPM1, MIR211, LOC283710, KLF13, OTUD7A, CHRNA7
 
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case6
 
 
 Unknown
 Multi-generational (affected son with deletion)
 Possibly segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 maini_18_ASD/DD/ID_discovery_cases-case75
 
 
 Paternal
 Not simplex
 Unknown
 OTUD7A,CHRNA7
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown40
 
 
 Maternal
 Unknown
 Unknown
 CHRNA7
 
 meganathan_21_ASD/ADHD/DD_discovery_cases-caseAP
 
 
 Maternal
 Multiplex
 
 CHRNA7,OTUD7A,DEPDC1P1
 Increased CHRNA7 expression in NPCs derived from the affected proband and his unaffected mother comp
 melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
 qPCR
 
 Maternal
 Multiplex
 Not segregated (No segregation of CNV with TS)
 OTUD7A, CHRNA7
 
 mikhail_11_DD/ID_discovery_cases-patient7
 FISH
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 moreira_14_ASD/EP_discovery_cases-case2
 Array SNP
 
 Paternal
 Simplex
 Unknown
 OTUD7A,CHRNA7
 
 moreira_14_ASD/EP_discovery_cases-case3
 Array SNP
 
 Paternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-253202
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 nord_11_ASD_discovery_cases-316-1
 
 
 Paternal
 
 
 TRPM1
 
 oikonomakis_16_ASD_discovery_cases-case449
 
 
 Unknown
 
 
 OTUD7A,CHRNA7
 
 oikonomakis_16_ASD_discovery_cases-case543
 
 
 Unknown
 
 
 RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P1,LINC02256,GOLGA8N,SCG5,GREM1,CHRNA7,ARHGAP11A,FMN1
 
 pagnamenta_09_ASD_discovery_cases-probandcase1
 aCGH (Agilent 44K)
 
 Maternal
 Multiplex
 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
 
 pagnamenta_09_ASD_proband_family_cases-case2
 aCGH (Agilent 44K)
 
 Maternal
 Multiplex
 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
 
 pagnamenta_09_ASD_proband_family_cases-case3
 aCGH (Agilent 44K)
 
 Maternal
 Multiplex
 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
 
 pinto_10_ASD_discovery_cases-case5237_3
 Agilent1M
 
 paternal
 Simplex
 NA
 OTUD7A,CHRNA7
 
 pinto_10_ASD_discovery_cases-case5248_3
 Agilent1M
 
 paternal
 NA
 NA
 OTUD7A,CHRNA7
 
 pinto_10_ASD_discovery_cases-case5311_3
 Agilent1M
 
 paternal
 NA
 NA
 CHRNA7
 
 pinto_10_ASD_discovery_cases-case5320_3
 Agilent1M
 
 maternal
 NA
 NA
 CHRNA7
 
 pinto_14_ASD_discovery_cases2-case6325_3
 qPCR
 
 Maternal
 Simplex
 (no siblings)
 OTUD7A,CHRNA7
 
 pinto_14_ASD_discovery_cases2-case6396_3
 qPCR
 
 Paternal
 Multiplex
 (no siblings)
 OTUD7A,CHRNA7
 
 poultney_13_ASD_discovery_cases-case01HI2130A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR211,TRPM1
 
 poultney_13_ASD_discovery_cases-case03HI2699A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR211,TRPM1
 
 poultney_13_ASD_discovery_cases-case05HI3851A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CHRNA7
 
 poultney_13_ASD_discovery_cases-case05HI3863A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CHRNA7
 
 poultney_13_ASD_discovery_cases-case05HI4003A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CHRNA7
 
 prasad_12_ASD_discovery_cases-case157660L
 
 
 Unknown
 Unknown
 Unknown
 MIR211,TRPM1
 
 prasad_12_ASD_discovery_cases-case55360
 
 
 Unknown
 Unknown
 Unknown
 MIR211,TRPM1
 
 quintela_17_DD/ID_discovery_cases-caseID_294
 
 
 Unknown
 
 Unknown
 OTUD7A,CHRNA7
 
 quintela_17_DD/ID_discovery_cases-caseID_33
 
 
 Unknown
 
 Unknown
 OTUD7A,CHRNA7
 
 quintela_17_DD/ID_discovery_cases-caseID_414
 
 
 Unknown
 
 Unknown
 OTUD7A,CHRNA7
 
 quintela_17_DD/ID_discovery_cases-caseID_459
 
 
 Unknown
 
 Unknown
 OTUD7A,CHRNA7
 
 quintela_17_DD/ID_discovery_cases-caseID_460
 
 
 Unknown
 
 Unknown
 OTUD7A,CHRNA7
 
 quintela_17_DD/ID_discovery_cases-caseID_469
 
 
 Unknown
 
 Unknown
 OTUD7A,CHRNA7
 
 roberts_13_ASD/DD/ID_discovery_cases-ASDcase9
 BACs aCGH or FISH
 
 Maternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 rosenfeld_10_ASD_discovery_cases-case21791
 FISH
 
 Paternal
 Unknown
 Unknown
 TRPM1,LOC283710,KLF13,OTUD7A
 
 rosenfeld_10_ASD_discovery_cases-case23597
 FISH
 
 Maternal
 Unknown
 Unknown
 TRPM1,LOC283710,KLF13,OTUD7A
 
 rosenfeld_10_ASD_discovery_cases-case26276
 FISH
 
 Paternal
 Unknown
 Unknown
 TRPM1,LOC283710,KLF13,OTUD7A
 
 rosenfeld_10_ASD_discovery_cases-case28679
 FISH
 
 Paternal
 Unknown
 Unknown
 TRPM1,LOC283710,KLF13,OTUD7A
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1328-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1335-4
 qPCR
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1559-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-172
 qPCR
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-007
 qPCR
 
 Maternal
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 OTUD7A
 
 sansovic_17_DD/ID/ASD_discovery_cases-case56
 
 
 Unknown
 
 
 OTUD7A,CHRNA7
 
 sansovic_17_DD/ID/ASD_discovery_cases-case88
 
 
 Paternal
 
 
 OTUD7A,CHRNA7
 
 shin_15_ASD/DD/ID_discovery_cases-case12
 Array SNP (Affymetrix CytoScan 750K)
 
 Unknown
 
 Unknown
 OTUD7A,CHRNA7
 
 soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseI-1
 
 Unknown
 Unknown
 Multi-generational
 Segregated
 OTUD7A
 
 soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseII-3
 
 Paternal
 Paternal
 Multi-generational
 Segregated
 OTUD7A
 
 soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-2
 FISH, aCGH (NimbleGen 4.2M and Agilent 4x44K), qPCR
 Maternal
 Maternal
 Multi-generational
 Segregated
 OTUD7A
 
 soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-3
 FISH, qPCR
 Maternal
 Maternal
 Multi-generational
 Segregated
 OTUD7A
 
 stamouli_18_ASD/NDD_discovery_cases-family29_Twin_1
 qPCR, found also in cotwin
 
 Unknown
 Simplex
 Not segregated (CNV also present in unaffected twin)
 MIR211,TRPM1
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1
 
 van_den_bossche_12_BPD_discovery_cases-Bas1516
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_BPD_discovery_cases-Sc7371
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_ID_discovery_cases-Sc4266
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_ID_discovery_cases-Sc7430
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_ID_discovery_cases-Sc7625
 
 
 Unknown
 Unknown
 Unknown
 MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,TRPM1,OTUD7A,CHRNA7
 
 van_den_bossche_12_MDD_discovery_cases-Sc6810
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_MDD_discovery_cases-Sc7027
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_SCZ_discovery_cases-Das18
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_SCZ_discovery_cases-Das183
 
 
 Unknown
 Unknown
 Unknown
 LINC02352,UBE2CP4,KLF13,TRPM1,OTUD7A
 
 van_den_bossche_12_SCZ_discovery_cases-Sc11110
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_SCZ_discovery_cases-Sc11510
 
 
 Unknown
 Unknown
 Unknown
 MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,TRPM1,OTUD7A,CHRNA7
 
 van_den_bossche_12_SCZ_discovery_cases-Sc3694
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_SCZ_discovery_cases-Zas8999
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 van_den_bossche_12_SCZ_discovery_cases-Zas9020
 
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 wisniowiecka-kowalnik_12_ASD_discovery_cases-patient4
 FISH
 
 Maternal
 Multiplex
 Not segregated
 CHRNA7
 
 xu_16_ASD/DD/ID_discovery_cases-case8
 
 
 Maternal
 
 
 NCAPGP2,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,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
 
 yingjun_17_ASD_discovery_cases-case1248
 N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
 
 Unknown
 Unknown
 Unknown
 OTUD7A,CHRNA7
 
 yin_16_ASD_discovery_cases-case477
 
 
 Unknown
 Unknown
 Unknown
 HNRNPA1P71,TMCO5B,FMN1
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1129-005
 RT-qPCR or WGS
 
 Paternal
 
 
 OTUD7A,CHRNA7
 null
 zhou_16_SCZ_discovery_cases-caseNSB3248
 CNV validation not reported
 Possibly paternal
 Paternal
 Multiplex
 Possibly segregated
 OTUD7A,CHRNA7
 
 zhou_16_SCZ_discovery_cases-caseNSB852
 CNV validation not reported
 Paternal
 Paternal
 Multi-generational
 Segregated
 RNU6-18P,OTUD7A,CHRNA7
 
 zhou_19_ASD_discovery_cases-caseAU032303
 qPCR, solid phase hybridization
 
 Maternal
 
 
 CHRNA7
 
 zhou_19_ASD_discovery_cases-caseAU044903
 qPCR, solid phase hybridization
 
 Maternal
 
 
 CHRNA7
 
 zhou_19_ASD_discovery_cases-caseAU096503
 qPCR, solid phase hybridization
 
 Unknown
 
 
 CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case1
 MLPA
 
 Unknown (not maternal)
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case10
 MLPA
 
 Maternal
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case11
 MLPA
 
 Unknown
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case13
 MLPA
 
 Unknown
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case14
 MLPA
 
 Unknown
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case15
 MLPA
 
 Maternal
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case17
 MLPA
 
 Unknown
 Multiplex
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case18
 MLPA
 
 Maternal
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case2
 MLPA
 
 Unknown (not maternal)
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case3
 MLPA
 
 De novo
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case5
 MLPA
 
 Maternal
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case6
 MLPA
 
 Unknown
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case7
 MLPA
 
 Unknown (not maternal)
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case8
 MLPA
 
 Unknown
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case9
 MLPA
 
 Unknown (not paternal)
 
 
 FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10058
 
 
  Unknown
 
 
  OTUD7A,CHRNA7
 
bacchelli_20_ASD_discovery_controls-control10061
 
 
  Unknown
 
 
  OTUD7A,CHRNA7
 
bacchelli_20_ASD_discovery_controls-control10116
 
 
  Unknown
 
 
  OTUD7A,CHRNA7
 
bacchelli_20_ASD_discovery_controls-control10471
 
 
  Unknown
 
 
  CHRNA7
 
chen_17_ASD_discovery_controls1-control3
 
 
  Unknown
 
 
  RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
chen_17_ASD_discovery_controls1-control4
 
 
  Unknown
 
 
  RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
chen_17_ASD_discovery_controls1-control5
 
 
  Unknown
 
 
  RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
chen_17_ASD_discovery_controls1-control6
 
 
  Unknown
 
 
  RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
chen_17_ASD_discovery_controls1-control7
 
 
  Unknown
 
 
  RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
chen_17_ASD_discovery_controls1-control8
 
 
  Unknown
 
 
  RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control26
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control27
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control28
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control29
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control30
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control31
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control32
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control33
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control34
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control35
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control36
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control37
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control38
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control39
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control40
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control41
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control42
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control43
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control44
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control45
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control46
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control47
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control48
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control49
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control50
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control51
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control52
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control53
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control54
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control55
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control56
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control57
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control58
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control59
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control60
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control61
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control62
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control63
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control64
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control65
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control66
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control67
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control68
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control69
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control70
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control71
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control72
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control73
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control74
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control75
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control76
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_12_ASD/DD/ID_discovery_controls-control77
  NA
 
  Unknown
  Unknown
  Unknown
  OTUD7A,CHRNA7
 
girirajan_13b_ASD_discovery_controls-15607108080
 
 
  Unknown
 
 
  LINC02352,KLF13,TRPM1
 
girirajan_13b_ASD_discovery_controls-15607108080
 
 
  Unknown
 
 
  LINC02352,KLF13,TRPM1
 
girirajan_13b_ASD_discovery_controls-24809111471
 
 
  Unknown
 
 
  OTUD7A,CHRNA7
 
guo_17_ASD_discovery_controls-controlPY2562
  qPCR
 
  Unknown
 
 
  RNU6-466P,MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
kanduri_15_ASD_discovery_controls-control_split1069