brandler_18_ASD_discovery_cases

  Brandler WM , et al. 2018

 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)

 880

 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD

 N/A

 N/A

 116000

 1

 0

 1

 bucan_09_ASD_discovery_cases

  Bucan M , et al. 2009

 Individuals from 912 multiplex families (AGRE cohort)

 3832

 ASD

 

 

 113282

 4

 0

 4

 bucan_09_ASD_replication_cases

  Bucan M , et al. 2009

 Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex

 859

 828 diagnosed with autism, 31 with other ASDs

 Range, 2-21

 81.8% Male

 24100

 1

 0

 1

 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

 

 

 42329

 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

 537650

 1

 0

 1

 pfundt_16_nonNDD_discovery_cases

  Pfundt R , et al. 2016

 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

 1430

 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)

 N/A

 N/A

 4851

 1

 0

 1

 rosenfeld_10_ASD_discovery_cases

  Rosenfeld JA , et al. 2010

 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

 1461

 ASD

 

 

 3390879

 1

 0

 1

 rosenfeld_10_non-ASD_discovery_cases

  Veenstra DL , et al. 2010

 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)

 21219

 Controls (no diagnosis or indication of ASD)

 

 

 

 0

 0

 0

 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

 71791

 8

 0

 8

 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

 135969

 0

 1

 1

 tzetis_12_DD/ID_discovery_cases

  Tzetis M , et al. 2012

 Patients referred for aCGH analysis from 2008-present

 334

 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)

 Range, 1 month-38 years (median age of 4 years)

 

 1100000

 1

 0

 1

 wenger_16_ASD_discovery_cases

  Wenger TL , et al. 2016

 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases

 62

 ASD

 N/A

 N/A

 3149

 1

 0

 1

 bucan_09_ASD_discovery_controls

 1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)

 1488

 Controls

 

 

 113282

 0

 0

 0

 bucan_09_ASD_replication_controls

 Children of Caucasian ancestry with no history of ASDs (CHOP)

 1051

 Controls

 

 

 113282

 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

 227722

 2

 2

 4

 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

 3507

 1

 0

 1

 sanders_11_ASD_discovery_controls

 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

 872

 Controls

 Mean, 10.0 yrs.

 

 134525

 5

 0

 5

 stamouli_18_ASD/NDD_discovery_controls

 Unaffected 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

 Control (unaffected) individual 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 and

 N/A

 N/A

 135969

 0

 1

 1