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

 175474

 1

 2

 3

 gai_11_ASD_discovery_cases

  Gai X , et al. 2011

 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)

 631

 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

 

 

 187568

 0

 1

 1

 iourov_12_ASD/ID/EP_discovery_cases

  Iourov IY , et al. 2013

 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012

 54

 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies

 Range, 3 mos.-11 yrs.

 NA

 98598

 1

 0

 1

 krumm_15_ASD_discovery_cases

  Krumm N , et al. 2015

 Probands from the Simons Simplex Collection

 2377

 Diagnosis of ASD

 N/A

 N/A

 17230

 1

 0

 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

 59766

 1

 0

 1

 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

 

 

 175475

 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

 18021

 1

 0

 1

 sanders_11_ASD_discovery_cases

  Sanders SJ , et al. 2011

 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

 64470

 1

 1

 2

 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

 45159

 2

 0

 2

 krumm_15_ASD_discovery_controls

 Unaffected siblings from quad families from the Simons Simplex Collection

 1786

 Control

 N/A

 N/A

 17230

 1

 0

 1

 kushima_18_ASD/SCZ_discovery_controls

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

 2095

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

 Median age, 37 years

 52.0% Male

 0

 0

 0

 0

 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.

 

 29301

 0

 1

 1

 prasad_12_ASD_discovery_controls

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

 5139

 Control

 NA

 NA (PDx controls 50.2% male)

 18021

 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.

 

 0

 0

 0

 0