battaglia_13_DD/ID/ASD_discovery_cases

  Battaglia A , et al. 2013

 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

 349

 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

 Range, 5 mos.-19 yrs.

 63.9% Male

 1370000

 1

 0

 1

 engchuan_15_ASD_discovery_cases

  Engchuan W , et al. 2015

 Samples from the Autism Genome Project (AGP)

 1892

 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

 N/A

 85.78% Male

 1269391

 0

 1

 1

 girirajan_13a_ASD_discovery_cases

  Girirajan S , et al. 2013

 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

 1164165

 2

 0

 2

 girirajan_13a_DD_discovery_cases

  Girirajan S , et al. 2013

 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)

 31518

 Developmental delay

 NA

 NA

 1164165

 2

 0

 2

 gregory_09_ASD_discovery_cases

  Gregory SG , et al. 2009

 Probands from multiplex autism families

 119

 Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months

 

 78.15% Male

 1153984

 1

 1

 2

 griswold_12_ASD_discovery_cases

  Griswold AJ , et al. 2012

 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.

 813

 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.

 Range, 3-21 yrs.

 NA

 1307967

 2

 0

 2

 guo_17_ASD_discovery_cases

  Guo H , et al. 2017

 ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs

 546

 Diagnosis of ASD based on DSM-IV-TR criteria

 Mean, 5.065 years

 N/A

 1391399

 2

 0

 2

 han_22_ASD/DD/ID_discovery_cases

  NA NA

 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.

 410

 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).

 Mean age, 2 yrs. 11 mos.

 68.78% Male

 1668033

 0

 1

 1

 kaminsky_11_DD/ID/ASD_discovery_cases

  Kaminsky EB , et al. 2011

 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

 1611729

 2

 3

 5

 kushima_18_ASD_discovery_cases

  Kushima I , et al. 2018

 Individuals predominantly recruited from the middle of Honshu Island (Japan)

 1108

 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.

 Median age, 19 years

 78.0% Male

 1717472

 0

 1

 1

 kushima_18_SCZ_discovery_cases

  Kushima I , et al. 2018

 Individuals predominantly recruited from the middle of Honshu Island (Japan)

 2458

 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

 Median age, 44 years

 55.0% Male

 1649736

 1

 1

 2

 kushima_22_ASD_discovery_cases

  Kushima I et al. 2022

 Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.

 1205

 Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.

 Median age, 19 yrs.

 77.6% Male

 1714711

 0

 1

 1

 kushima_22_SCZ_discovery_cases

  Kushima I et al. 2022

 Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.

 3014

 Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

 Median age, 45 yrs.

 53.5% Male

 1649737

 1

 1

 2

 pinto_10_ASD_discovery_cases

  Pinto D , et al. 2010

 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

 

 

 1270000

 0

 1

 1

 prasad_12_ASD_discovery_cases

  Prasad A , et al. 2013

 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

 1634348

 1

 1

 2

 tropeano_16_ASD_discovery_cases

  Tropeano M , et al. 2016

 ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)

 90

 Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.

 Adult age (20 yrs.+)

 N/A

 1444313

 0

 1

 1

 wang_18_TS_discovery_cases

  Wang S , et al. 2018

 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts

 789

 Probands diagnosed with Tourette syndrome

 N/A

 80.57% Male

 1882316

 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

 1376298

 0

 1

 1

 engchuan_15_ASD_discovery_controls

 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)

 2342

 Controls; subjects had no previous psychiatric history

 N/A

 46.67% Male

 0

 0

 0

 0

 girirajan_13a_ASD_discovery_controls3

 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)

 8329

 Control

 NA

 NA

 0

 0

 0

 0

 gregory_09_ASD_discovery_controls

 Samples from 27 sex-mismatched hybridizations

 54

 Controls

 

 50% Male

 848989

 1

 0

 1

 griswold_12_ASD_discovery_controls

 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)

 592

 Control

 Range, preterm-21 yrs.

 NA

 1307967

 0

 0

 0

 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

 0

 0

 0

 0

 kaminsky_11_DD/ID/ASD_discovery_controls

 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

 10118

 Controls

 NA

 NA

 NA

 NA

 NA

 NA

 kushima_18_ASD/SCZ_discovery_controls

 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)

 2095

 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.

 Median age, 37 years

 52.0% Male

 0

 0

 0

 0

 kushima_22_ASD/BPD/SCZ_discovery_controls

 Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.

 2671

 Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.

 Median age, 36 yrs.

 47.8% Male

 0

 0

 0

 0

 prasad_12_ASD_discovery_controls

 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.

 5139

 Control

 NA

 NA (PDx controls 50.2% male)

 1634348

 0

 0

 0