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

 59349

 1

 0

 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

 692354

 0

 1

 1

 krumm_13_ASD_discovery_cases

  Krumm N , et al. 2013

 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

 147929

 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

 147929

 1

 0

 1

 marshall_08_ASD_discovery_cases

  Marshall CR , et al. 2008

 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites

 427

 ASD

 

 

 83443

 0

 1

 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

 

 

 236686

 0

 1

 1

 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)

 411463

 0

 2

 2

 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

 152018

 8

 2

 10

 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

 298719

 1

 0

 1

 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_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

 0

 0

 0

 0

 krumm_15_ASD_discovery_controls

 Unaffected siblings from quad families from the Simons Simplex Collection

 1786

 Control

 N/A

 N/A

 0

 0

 0

 0

 marshall_08_ASD_discovery_controls_1

 German PopGen project and entries from Database of Genomic Variants

 500

 Controls

 

 

 0

 0

 0

 0

 marshall_08_ASD_discovery_controls_2

 Non-disease controls from Ontario population

 1152

 Controls

 

 

 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)

 0

 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.

 

 67482

 4

 3

 7

 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

 298719

 0

 0

 0