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

 1490

 1

 0

 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

 456662

 1

 1

 2

 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

 164696

 0

 1

 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

 184332

 2

 0

 2

 miclea_22_DD/ID_discovery_cases

  NA NA

 Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.

 189

 Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.

 Range, 1-18 yrs.

 51.85% Male

 28741

 0

 1

 1

 nord_11_ASD_discovery_cases

  Nord AS , et al. 2011

 Youth with ASD (as part of mother-father-child trios)

 41

 ASD

 

 85.4% Male

 39242

 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

 32372

 1

 3

 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

 11468

 2

 0

 2

 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

 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

 0

 0

 0

 0

 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

 2372

 1

 0

 1

 krumm_15_ASD_discovery_controls

 Unaffected siblings from quad families from the Simons Simplex Collection

 1786

 Control

 N/A

 N/A

 31311

 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

 73966

 0

 2

 2

 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.

 

 0

 0

 0

 0

 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)

 216540

 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)

 32372

 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.

 

 39384

 2

 1

 3