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

 50

 1

 0

 1

 celestino-soper_11_ASD_discovery_cases

  Celestino-Soper PB , et al. 2011

 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.

 99

 ASD

 

 87.88% Male

 271

 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

 569418

 0

 2

 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

 94700

 0

 1

 1

 levy_11_ASD_discovery_cases

  Levy D , et al. 2011

 Autistic probands from 887 families from the Simons Simplex Collection (SSC)

 858

 ASD

 

 87.06% Male

 165499

 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

 21464

 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

 145141

 5

 2

 7

 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

 20389

 0

 1

 1

 yatsenko_12_ASD/DD/ID_discovery_cases

  Yatsenko SA , et al. 2012

 Unrelated children with variable phenotypes found to have a gain in DNA copy number in the subtelomeric 9q34 region revealed by aCGH, FISH, or chromosome analysis performed at Baylor College of Medicine and elsewhere.

 20

 Phenotypes include one or more of the following: ASD, DD, ID, dysmorphic features, multiple congenital anomalies (MCA)

 Range, 1 yr.-16 yrs.

 60.0% Male

 253838

 1

 0

 1

 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

 55265

 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

 152224

 1

 3

 4

 itsara_10_ASD_discovery_controls_1

 Unaffected siblings of ASD probands from multiplex (n=368) and simplex (n=59) families from AGRE collection

 427

 Controls: Unaffected or Not Met

 

 

 31182

 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_15_ASD_discovery_controls

 Unaffected siblings from quad families from the Simons Simplex Collection

 1786

 Control

 N/A

 N/A

 65208

 0

 1

 1

 levy_11_ASD_discovery_controls

 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)

 863

 Control

 

 47.97% Male

 92628

 0

 1

 1

 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)

 6201

 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)

 21464

 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.

 

 45542

 3

 1

 4

 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

 55265

 0

 0

 0