bacchelli_20_ASD_discovery_cases

  NA NA

 Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)

 128

 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)

 N/A

 82.81% Male

 400861

 1

 0

 1

 battaglia_13_DD/ID/ASD_discovery_cases

  Battaglia A , et al. 2013

 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

 349

 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

 Range, 5 mos.-19 yrs.

 63.9% Male

 402000

 1

 0

 1

 cucinotta_23_ASD_discovery_cases

  NA NA

 Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.

 329

 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.

 NA

 84.19% Male

 386592

 1

 0

 1

 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

 345000

 2

 0

 2

 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

 265405

 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

 368823

 1

 0

 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

 369812

 1

 0

 1

 krumm_15_ASD_discovery_cases

  Krumm N , et al. 2015

 Probands from the Simons Simplex Collection

 2377

 Diagnosis of ASD

 N/A

 N/A

 414740

 4

 0

 4

 kushima_22_SCZ_discovery_cases

  Kushima I et al. 2022

 Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.

 3014

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

 Median age, 45 yrs.

 53.5% Male

 445844

 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

 405914

 2

 0

 2

 wisniowiecka-kowalnik_12_ASD_discovery_cases

  Winiowiecka-Kowalnik B , et al. 2012

 ASD patients from 132 simplex and 13 multiplex families of Polish descent

 145

 Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.

 Range, 3-26 yrs.

 84.83% Male

 400000

 1

 0

 1

 bacchelli_20_ASD_discovery_controls

 Anonymized DNA samples from Italian individuals with no psychiatric disorders

 365

 Control

 N/A

 54.52% Male

 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

 397114

 3

 0

 3

 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_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

 384162

 1

 0

 1

 krumm_15_ASD_discovery_controls

 Unaffected siblings from quad families from the Simons Simplex Collection

 1786

 Control

 N/A

 N/A

 369812

 3

 0

 3

 kushima_22_ASD/BPD/SCZ_discovery_controls

 Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.

 2671

 Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.

 Median age, 36 yrs.

 47.8% Male

 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)

 384166

 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.

 

 20923

 3

 0

 3