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

 700000

 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

 112133

 4

 0

 4

 gazzellone_14_ASD_discovery_cases

  Gazzellone MJ , et al. 2014

 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.

 104

 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

 Mean age at enrollment, 4.31 1.80 yrs.

 87.5% Male

 76397

 1

 0

 1

 han_22_ASD/DD/ID_discovery_cases

  NA NA

 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.

 410

 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).

 Mean age, 2 yrs. 11 mos.

 68.78% Male

 73377

 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

 21956

 1

 0

 1

 lee_17_ASD/DD/ID/MCA_discovery_cases

  Lee SH and Song WJ 2017

 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome

 42

 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)

 Range, newborn-38 yrs.

 69.05% Male

 5658

 0

 2

 2

 pinto_10_ASD_discovery_cases

  Pinto D , et al. 2010

 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

 996

 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

 

 

 49806

 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)

 268994

 0

 2

 2

 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

 56252

 1

 1

 2

 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

 72053

 8

 1

 9

 woodbury-smith_20_ASD_discovery_cases

  Woodbury-Smith M et al. 2020

 ASD cases from nine Canadian extended pedigrees (defined as having at least three ASD cases spread across at least two nuclear families)

 39

 Cases diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria)

 Mean age, 123.84 months (SD 101.70)

 87.18% Male (6.8:1 M:F ratio)

 20970

 1

 0

 1

 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

 2220

 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

 230592

 2

 0

 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

 55974

 2

 0

 2

 krumm_15_ASD_discovery_controls

 Unaffected siblings from quad families from the Simons Simplex Collection

 1786

 Control

 N/A

 N/A

 65595

 3

 1

 4

 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)

 282286

 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)

 56252

 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.

 

 32623

 7

 2

 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

 2220

 0

 0

 0