brandler_16_ASD_discovery_cases

  Brandler WM , et al. 2016

 ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)

 71

 Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.

 N/A

 N/A

 18338

 1

 0

 1

 brandler_18_ASD_discovery_cases

  Brandler WM , et al. 2018

 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)

 880

 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD

 N/A

 N/A

 18550

 1

 0

 1

 egger_14_ASD_discovery_cases

  Egger G , et al. 2014

 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).

 73

 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories

 N/A

 80.82% Male

 141658

 0

 1

 1

 leite_22_DD/ID_discovery_cases

  Leite AJDC et al. 2022

 Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.

 369

 Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.

 93.2% of cases under 18 yrs.

 47.4% Male

 105455

 0

 1

 1

 nava_13_ASD_discovery_cases

  Nava C , et al. 2013

 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).

 194

 Cases assessed with ADI-R

 N/A

 83.5% Male

 51000

 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)

 273523

 1

 2

 3

 egger_14_ASD_discovery_controls

 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)

 2357

 Control

 N/A

 N/A

 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)

 207173

 0

 2

 2

 sanders_11_ASD_discovery_controls

 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

 872

 Controls

 Mean, 10.0 yrs.

 

 21291

 0

 1

 1