cai_08_ASD_discovery_cases

  Cai G , et al. 2008

 Unrelated individuals with autism or ASD recruited by SARC and/or AGRE

 279

 270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism

 Mean 7.94 yrs

 79.6% Male

 1000000

 0

 1

 1

 girirajan_11_ASD_discovery_cases

  Girirajan S , et al. 2011

 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.

 

 

 943181

 0

 2

 2

 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

 612134

 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

 886512

 1

 1

 2

 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

 171025

 0

 1

 1

 leppa_16_ASD_discovery_cases

  Leppa VM , et al. 2016

 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)

 1764

 Diagnosis according to ADOS and ADI-R

 N/A

 N/A

 1348000

 0

 1

 1

 miclea_22_DD/ID_discovery_cases

  NA NA

 Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.

 189

 Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.

 Range, 1-18 yrs.

 51.85% Male

 13951

 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)

 544133

 0

 1

 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

 805672

 2

 2

 4

 sandoval_talamantes_23_ASD_discovery_cases

  NA NA

 ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).

 212

 All cases met DSM-5 diagnostic criteria for ASD.

 Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)

 87.73% Male

 28575

 0

 1

 1

 yuan_23_ASD_discovery_cases

  Yuan B et al. 2023

 ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).

 369

 Cases diagnosed with ASD using DSM-IV.

 NA

 NA

 985590

 0

 1

 1

 yuen_17_ASD_discovery_cases

  C Yuen RK et al. 2017

 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th

 2626

 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5

 N/A

 78.71% Male

 145999

 0

 1

 1

 bacchelli_20_ASD_discovery_controls

 Anonymized DNA samples from Italian individuals with no psychiatric disorders

 365

 Control

 N/A

 54.52% Male

 205632

 0

 1

 1

 cai_08_ASD_discovery_controls

 Controls

 248

 Controls

 

 70.2% Male

 1000000

 0

 0

 0

 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

 38316

 1

 0

 1

 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.

 

 

 943181

 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

 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

 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.

 

 16967

 3

 0

 3