Autism

NOTE: The distribution refers to a collection of studies organized by disorder or theme (see FAQ). It is important to note that not all individuals in the distribution have DNA available.

Given the major public health implications of identifying genes responsible for severe neuropsychiatric disorders, the National Institute of Mental Health (NIMH) has funded a Human Genetics Initiative. The goal of this Initiative is to establish a national resource of clinical data and biomaterials that are collected from individuals with autism, schizophrenia, bipolar I disorder, depression, obsessive-compulsive disorder, and other mental disorders. The NIMH Autism Genetics Initiative is supported by the Office of Human Genetics & Genomic Resources in NIMH's Division of Neuroscience and Basic Behavioral Science (DNBBS). Starting in 2001, data and biomaterials (cell lines and DNA samples) will be available to qualified investigators who study the genetics of autism, and may be accessed by following a set of instructions.

Dist. 14.0/October 2016

List of Studies

Available for Download

Study	Title	Distributions	PIs	Grants	Sites	Target Sample Size	GWAS Notes	Status
Study 4	Collaborative Linkage Study of Autism	Autism	Folstein (retired), Piven, Sutcliffe	R01MH055135	60-61, 89	665	26 in exome seq dbGap ARRA; 12 in dbGaP AGP; 515 in NIMH AU DS3; 12 in dbGaP phs000436;	Released
Study 10	Collaborative Linkage Study in Autism	Autism	Folstein	R01MH055135	62	4	4 in NIMH AU DS3;	Released
Study 14	Molecular Genetics of Infantile Autism	Autism	Myers	R01MH052708	63	563	334 in NIMH AU DS3; 49 in dbGaP ARRA;	Released
Study 21	AGRE; A Genomewide Search for Autism Susceptibility Loci	Autism	Geschwind	R01MH064547	72, 74	3908	442 in exome seq dbGap ARRA; 96 in dbGaP AGP; 16 in dbGap phs000639; 362 in NIMH AU DS3;	Released in AU Dist. 7.0
Study 30	A study of Autism	Autism	Rodier		158	50		Released in AU Dist. 5.0
Study 31	A study of Autism	Autism	Rodier		151	79		Released in AU Dist. 5.0
Study 32	A study of Autism	Autism	Szatmari		152	483	31 in exome seq dbGap ARRA;8 in dbGaP AGP;	Released in AU Dist. 5.0
Study 33	Longitudinal Study of Language and Theory of Mind in Autism	Autism	Tager-Flusberg	P01DC003610	153	210	17 in NIMH AU DS3;	Released in AU Dist. 5.0
Study 34	Neurobiology and Genetics of Autism	Autism	Dawson	U19HD035465	154	214	10 in dbGaP ARRA;	Released in AU Dist. 5.0
Study 35	Molecular and Genetic Epidemiology of Autism	Autism	Pericak-Vance	R01MH080647	155	1220		Released in AU Dist. 8.0
Study 36	A study of Autism	Autism	McInnis		156	310	4 in exome seq dbGap ARRA;	Released in AU Dist. 5.0
Study 37	RUPP-PI	Autism	McDougle	U10MH066766	157	133	27 in exome seq dbGap ARRA;	Released in AU Dist. 5.0
Study 39	A study of Autism	Autism	Brzustowicz	RC1MH088288	161			Released in AU Dist. 13.0
Study 41	The Development of the Siblings of Children with Autism: A Longitudinal Study	Autism	King, Hollander, Sigman, Piven, Volkmar, Tager-Flusberg, Hollander	P50HD055784	700-707	438	7 in exome seq dbGap ARRA;	Site 702 still collecting samples, project end date is 31-MAY-2017; Sites 700-705, 707 were released in AU Dist 6.0
Study 44	Genetic Analysis of 15q11-q13 in Autism	Autism	Sutcliffe	R01MH061009	165		134 in dbGaP AGP; 71 in dbGaP phs000436;	Released in AU Dist. 12.0
Study 46	DM-STAT (data coordinating site for Studies 30, 31, 33, 34 & 41)	Autism	Dagher					Released in AU Dist. 5.0 and 6.0
Study 50	Genetics of Autism Intermediate Phenotypes	Autism	Coon, Hepburn	R01MH069359	200-201	1711	129 in exome seq dbGap ARRA;	Released in AU Dist. 9.0
Study 56	Clinical and Immunological Investigations of Subtypes of Autism	Autism	Swedo, Thurm, Amaral	Clinical and Immunological Investigations of Subtypes of Autism	163, 208			Released in AU Dist. 14.0
Study 60	A study of Autism	Autism	Piven		167	275		Released in AU Dist. 14.0
Study 63	Interdisciplinary Studies of Insistence on Sameness in Autism Spectrum Disorders	Autism	Cook	P50HD055751	168	250	438 in exome seq dbGap UIC ACE;	Released in AU Dist. 13.0
Study 64	Center for Genomic and Phenomic Studies in Autism	Autism	Lajonchere, Amaral, Constantino, Roullet, Malow, Sohl, Manning, Murray	5U24MH081810	202-207, 229	1263	1 in exome seq dbGap ARRA;	Data processing - initial stages; Site 202 Released; Sites 203-207, 229 not released yet
Study 65	Trio Autism Simplex Collection (TASC)	Autism	Geschwind, Szatmari, Cook, Dawson, Poustka, Gallagher, Cuccaro, Vicente, McMahon, Sutcliffe, Buxbaum, Nurnberger	Funded by Autism Speaks	210-221	3374	1012 in exome seq dbGap ARRA; 1815 in dbGaP AGP;	Released in AU Dist. 10.0
Study 69	Biological and Information Processing Mechanisms Underlying Autism	Autism	Minshew	P50HD055748	209			Released in AU Dist. 13.0
Study 79	Genotypic and Phenotypic Factors in Autism Spectrum Disorders	Autism	Davis, Demmer, Caronna, Kunkel, Walsh, Frazier	R01MH085143, R01MH083565	222-227	1048	(lingwei note): 411 in exome seq dbGap ARRA; 29JUL2016(wbh): genomic data at NDAR under collection 2029, not for transfer to NRGR, target sequence data stays at NDAR, exome sequence goes to dbgap, according to David Obenshain of NDAR who cites agreement with Walsh lab; no gwas dataset https://ndar.nih.gov/edit_collection.html?id=2029	NDAR Primary Deposit, study continued; first batch Released in AU Dist. 11.0
Study 86	Autism-Spectrum Disorder Genetics	Autism	Haines	Autism-Spectrum Disorder Genetics	230	1500		Released in AU Dist. 14.0
Study 112	The Genetics of Autism: Epilepsy as a Biomarker	Autism	Devinsky (724-725), Schultz (740)	The Genetics of Autism: Epilepsy as a Biomarker	724-725, 740	1200		Released in AU Dist. 14.0

In Progress*

Study	Title	Distributions	PIs	Grants	Sites	Target Sample Size	GWAS Notes	Status
Study 41	The Development of the Siblings of Children with Autism: A Longitudinal Study	Autism	King, Hollander, Sigman, Piven, Volkmar, Tager-Flusberg, Hollander	P50HD055784	700-707	438	7 in exome seq dbGap ARRA;	Site 702 still collecting samples, project end date is 31-MAY-2017; Sites 700-705, 707 were released in AU Dist 6.0
Study 64	Center for Genomic and Phenomic Studies in Autism	Autism	Lajonchere, Amaral, Constantino, Roullet, Malow, Sohl, Manning, Murray	5U24MH081810	202-207, 229	1263	1 in exome seq dbGap ARRA;	Data processing - initial stages; Site 202 Released; Sites 203-207, 229 not released yet
Study 65	Trio Autism Simplex Collection (TASC)	Autism	Geschwind, Szatmari, Cook, Dawson, Poustka, Gallagher, Cuccaro, Vicente, McMahon, Sutcliffe, Buxbaum, Nurnberger	Funded by Autism Speaks	210-221	3374	1012 in exome seq dbGap ARRA; 1815 in dbGaP AGP;	Released in AU Dist. 10.0
Study 79	Genotypic and Phenotypic Factors in Autism Spectrum Disorders	Autism	Davis, Demmer, Caronna, Kunkel, Walsh, Frazier	R01MH085143, R01MH083565	222-227	1048	(lingwei note): 411 in exome seq dbGap ARRA; 29JUL2016(wbh): genomic data at NDAR under collection 2029, not for transfer to NRGR, target sequence data stays at NDAR, exome sequence goes to dbgap, according to David Obenshain of NDAR who cites agreement with Walsh lab; no gwas dataset https://ndar.nih.gov/edit_collection.html?id=2029	NDAR Primary Deposit, study continued; first batch Released in AU Dist. 11.0

*Studies in progress includes those available for download for which some future action is required