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

 2920

 1

 0

 1

 chaves_19_ASD/DD/ID_discovery_cases

  NA NA

 Patients from the south of Brazil with neurodevelopmental disorders

 420

 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%

 Range, 0-49 years (mean 9.5 9.73 years)

 61.90% Male

 742953

 0

 1

 1

 cukier_11_ASD_discovery_cases

  Cukier HN , et al. 2011

 2 autistic individuals from multiplex family 17122 (originally ascertained as part of the Collaborative Autism Project, which was described in Ma et al., 2009 ASD GWAS study)

 2

 1 diagnosed with autism, 1 diagnosed with ASD (DSM-IV and ADI-R criteria)

 

 Male

 5800

 0

 2

 2

 engchuan_15_ASD_discovery_cases

  Engchuan W , et al. 2015

 Samples from the Autism Genome Project (AGP)

 1892

 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

 N/A

 85.78% Male

 125767

 2

 1

 3

 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.

 

 

 92031

 1

 0

 1

 girirajan_12_ASD/DD/ID_discovery_cases

  Girirajan S , et al. 2012

 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

 32587

 Developmental delay with or without congenital malformations

 

 

 1410000

 8

 4

 12

 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

 5039

 2

 0

 2

 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

 1379928

 1

 0

 1

 morrow_08_ASD_discovery_cases

  Morrow EM , et al. 2008

 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.

 94

 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)

 

 

 9500

 1

 0

 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

 8445

 1

 0

 1

 salyakina_11_ASD_discovery_cases

  Salyakina D , et al. 2011

 ASD patients from extended ASD families (defined as families with at least two affected cousins)

 97

 ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS

 Range, 3-21 yrs.

 

 11028

 0

 3

 3

 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

 3387

 1

 1

 2

 woodbury-smith_14_ASD_discovery_cases

  Woodbury-Smith M , et al. 2014

 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States

 19

 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.

 N/A

 N/A

 2218

 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

 145707

 0

 1

 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.

 

 

 85267

 2

 0

 2

 girirajan_12_ASD/DD/ID_discovery_controls

 Persons found to have no overt neurological disorders during screening for other studies

 8329

 Control

 

 

 1410000

 0

 0

 0

 girirajan_13a_ASD_discovery_controls1

 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease

 580

 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.

 NA

 NA

 0

 0

 0

 0

 girirajan_13a_ASD_discovery_controls2

 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events

 2090

 Control

 NA

 NA

 N/A

 N/A

 N/A

 N/A

 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

 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)

 8445

 0

 0

 0

 salyakina_11_ASD_discovery_controls

 Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)

 838

 Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions

 

 

 11028

 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.

 

 3301

 2

 0

 2

 woodbury-smith_14_ASD_discovery_controls

 Platform-matched controls from the KORA and COGEND datasets

 2988

 Control

 N/A

 N/A

 0

 0

 0

 0