digregorio_17_DD/ID_discovery_cases

  NA NA

 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)

 1015

 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)

 N/A

 N/A

 154000

 1

 0

 1

 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

 65497

 1

 0

 1

 kanduri_15_ASD_discovery_cases

  Kanduri C , et al. 2015

 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control

 80

 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.

 N/A

 N/A

 24287

 1

 0

 1

 krumm_13_ASD_discovery_cases

  Krumm N , et al. 2013

 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

 411

 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

 N/A

 81.265% Male

 1315

 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

 208192

 3

 1

 4

 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

 175451

 2

 0

 2

 o'roak_12_ASD_discovery_cases

  O'Roak BJ , et al. 2012

 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families

 122

 ASD/autism

 NA

 NA

 151118

 1

 0

 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)

 73964

 1

 2

 3

 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

 38181

 0

 1

 1

 sajan_13_ACC/CBLH/PMG_discovery_cases

  Sajan SA , et al. 2013

 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes

 487

 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients

 N/A

 N/A

 195683

 1

 2

 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

 175138

 4

 2

 6

 stamouli_18_ASD/NDD_discovery_cases

  NA NA

 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)

 100 twin pairs

 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an

 N/A

 N/A

 20544

 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

 51406

 0

 1

 1

 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

 24287

 3

 0

 3

 krumm_13_ASD_discovery_controls

 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

 411

 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

 N/A

 46.47% Male

 0

 0

 0

 0

 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

 76394

 1

 0

 1

 nord_11_ASD_discovery_controls

 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases

 123

 Controls (no history of psychiatric symptoms by self-report)

 30 yrs.

 

 108445

 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)

 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)

 38181

 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.

 

 12654

 5

 0

 5