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

 839967

 0

 2

 2

 gazzellone_14_ASD_discovery_cases

  Gazzellone MJ , et al. 2014

 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

 96801

 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

 270000

 0

 2

 2

 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

 705281

 1

 1

 2

 krumm_15_ASD_discovery_cases

  Krumm N , et al. 2015

 Probands from the Simons Simplex Collection

 2377

 Diagnosis of ASD

 N/A

 N/A

 4946

 0

 2

 2

 poultney_13_ASD_discovery_cases

  Poultney CS , et al. 2013

 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)

 4948

 0

 2

 2

 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

 24141

 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

 54431

 3

 0

 3

 yin_16_ASD_discovery_cases

  Yin CL , et al. 2016

 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

 7009

 1

 0

 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

 224771

 1

 1

 2

 kaminsky_11_DD/ID/ASD_discovery_controls

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

 10118

 Controls

 NA

 NA

 NA

 NA

 NA

 NA

 krumm_15_ASD_discovery_controls

 Unaffected siblings from quad families from the Simons Simplex Collection

 1786

 Control

 N/A

 N/A

 4944

 0

 2

 2

 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)

 4948

 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)

 24141

 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.

 

 34905

 2

 0

 2

 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

 7009

 0

 0

 0