asadollahi_14_NDD_discovery_cases

  Asadollahi R , et al. 2014

 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb

 714

 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies

 N/A

 N/A

 372000

 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

 3643

 0

 1

 1

 egger_14_ASD_discovery_cases

  Egger G , et al. 2014

 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).

 73

 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories

 N/A

 80.82% Male

 52069

 0

 1

 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

 33735

 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

 211548

 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

 33478

 1

 0

 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

 417666

 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

 19941

 7

 0

 7

 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

 291584

 1

 0

 1

 egger_14_ASD_discovery_controls

 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)

 2357

 Control

 N/A

 N/A

 0

 0

 0

 0

 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

 0

 0

 0

 0

 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

 14015

 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

 78836

 0

 1

 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.

 

 12142

 1

 0

 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)

 33478

 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.

 

 77592

 8

 1

 9

 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

 291584

 0

 0

 0