nguyen_13_DD/ID/MCA/ASD_discovery_cases

  Nguyen LS , et al. 2013

 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER

 57365

 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

 N/A

 N/A

 1914644

 0

 1

 1

 quintela_17_DD/ID_discovery_cases

  Quintela I , et al. 2017

 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

 573

 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

 Range, 3 months-18 years

 60.38% Male

 223201

 0

 1

 1

 rosenfeld_10_ASD_discovery_cases

  Rosenfeld JA , et al. 2010

 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

 1461

 ASD

 

 

 705955

 1

 0

 1

 rosenfeld_10_non-ASD_discovery_cases

  Veenstra DL , et al. 2010

 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)

 21219

 Controls (no diagnosis or indication of ASD)

 

 

 

 4

 0

 4

 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

 24663

 10

 0

 10

 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

 143241

 1

 0

 1

 nguyen_13_DD/ID/MCA/ASD_discovery_controls

 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.

 20474

 Control

 N/A

 N/A

 N/A

 N/A

 N/A

 N/A

 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)

 98317

 1

 0

 1

 sanders_11_ASD_discovery_controls

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

 872

 Controls

 Mean, 10.0 yrs.

 

 2143

 3

 0

 3