gai_11_ASD_replication_cases

  Gai X , et al. 2011

 Replication case samples derived from AGRE sets 1-3

 593

 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

 

 

 1637793

 0

 1

 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

 

 

 1473997

 1

 0

 1

 guo_17_ASD_discovery_cases

  Guo H , et al. 2017

 ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs

 546

 Diagnosis of ASD based on DSM-IV-TR criteria

 Mean, 5.065 years

 N/A

 1544210

 0

 1

 1

 guo_18_ASD/DD/ID_discovery_cases

  Guo H , et al. 2018

 Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection

 213

 Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.

 N/A

 N/A

 1644199

 0

 2

 2

 hnoonual_17_ASD_discovery_cases

  Hnoonual A , et al. 2017

 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)

 114

 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.

 Range, 1-18 years (at time of recruitment)

 79.82% Male

 1000000

 0

 1

 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

 2252019

 3

 1

 4

 krumm_15_ASD_discovery_cases

  Krumm N , et al. 2015

 Probands from the Simons Simplex Collection

 2377

 Diagnosis of ASD

 N/A

 N/A

 1358869

 0

 1

 1

 kushima_18_SCZ_discovery_cases

  Kushima I , et al. 2018

 Individuals predominantly recruited from the middle of Honshu Island (Japan)

 2458

 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

 Median age, 44 years

 55.0% Male

 1394456

 1

 0

 1

 maini_18_ASD/DD/ID_discovery_cases

  NA NA

 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016

 293

 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)

 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)

 57.5% Male

 1474000

 1

 0

 1

 quintela_17_DD/ID_discovery_cases

  Quintela I , et al. 2017

 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

 573

 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

 Range, 3 months-18 years

 60.38% Male

 1587494

 1

 0

 1

 vaags_11_ASD_replication_cases_2

  Vaags AK , et al. 2012

 Replication cohort consisting of patients referred to the Mayo Clinic

 1796

 Autism or pervasive developmental disorder (PDD)

 NA

 NA

 1654579

 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

 1298069

 0

 1

 1

 girirajan_12_ASD/DD/ID_discovery_controls

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

 8329

 Control

 

 

 1473997

 NA

 NA

 NA

 guo_17_ASD_discovery_controls

 Control subjects screened for rare, large (>1 Mb) CNVs

 988

 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases

 Mean, 34.3 years

 N/A

 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

 0

 0

 0

 0

 kushima_18_ASD/SCZ_discovery_controls

 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)

 2095

 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.

 Median age, 37 years

 52.0% Male

 0

 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.

 

 232123

 0

 1

 1