alayadhi_16_ASD_discovery_cases

  AlAyadhi LY , et al. 2016

 ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)

 22

 All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2

 N/A

 100% Male

 10542

 0

 2

 2

 battaglia_13_DD/ID/ASD_discovery_cases

  Battaglia A , et al. 2013

 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

 349

 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

 Range, 5 mos.-19 yrs.

 63.9% Male

 316000

 1

 0

 1

 brandler_18_ASD_replication_cases

  Brandler WM , et al. 2018

 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)

 1979

 Cases diagnosed with ASD

 N/A

 N/A

 2071

 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

 8532

 1

 0

 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

 29623

 1

 0

 1

 li_18_ASD_discovery_cases

  Li SJ , et al. 2018

 Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research

 13

 Diagnosis of ASD made according to DSM-IV

 Mean age, 4.56 0.97 years

 92.31% Male

 445826

 0

 1

 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

 

 

 634169

 0

 1

 1

 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

 934024

 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

 

 

 216394

 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

 11420

 6

 0

 6

 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

 78410

 1

 1

 2

 kanduri_15_ASD_discovery_controls

 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control

 269

 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

 N/A

 N/A

 1006

 1

 0

 1

 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

 levy_11_ASD_discovery_controls

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

 863

 Control

 

 47.97% Male

 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

 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)

 934024

 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.

 

 25605

 2

 1

 3