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NDAR provides a single access to de-identified autism research data. For permission to download data, you will need an NDAR account with approved access to NDAR or a connected repository (AGRE, IAN, or the ATP). For NDAR access, you need to be a research investigator sponsored by an NIH recognized institution with federal wide assurance. See Request Access for more information.

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1 Numbers reported are subjects by age
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Format should be in the following format: Activity Code, Institute Abbreviation, and Serial Number. Grant Type, Support Year, and Suffix should be excluded. For example, grant 1R01MH123456-01A1 should be entered R01MH123456

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General

Title, investigators, and Collection Description may be edited along with the Collection Phase. For Collection Phase, the options Pre-enrollment, Enrollment, and Completed can be chosen allowing the Collection Owner to indicate the stage of data collection.

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The ability to associate the funding source for the project is provided. For NIH funded grants, linkage to Project Reporter information (e.g. R01MH123456) is supported. Projects funded by others, including the URL of the project, are listed. Non NIH funded projects will become available here to link that data with the appropriate funding agency.

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For clinical trials, the option to link to the clinical trial in clinicaltrials.gov is optionally provided.

Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Autism Genetics, Phase II: Increasing Representation of Human Diversity
Daniel Geschwind 
Autism Spectrum Disorder (ASD) is a common, often devastating neuropsychiatric condition with largely unknown pathophysiology. Although ASD has a multifactorial etiology, it encompasses a large genetic component. The investigators in this proposal aim to continue and enhance our collaborative effort that has produced significant advances in our understanding of ASD over the last four years and generated highly successful, open data and biomaterials resources for the research community, the NIMH Genetics Initiative and the Autism Genetic Resource Exchange (AGRE). Our Network has met or exceeded our original aims. We have built patient resources for research, identified rare and common ASD susceptibility alleles, defined models of ASD genetic susceptibility, provided evidence for convergent pathophysiology, and led development of animal and cell culture models. Here we propose to take a major new direction, filling a significant gap in ASD research, by recruiting underserved subjects of self-reported African ancestry (African-American; AA), an important population that has not previously been well-represented in ASD genetics research. Our Network involves six research sites and the AGRE DCC, collaborating in a systematic, comprehensive investigation of ASD genetics in order to identify rare mutations, chromosomal abnormalities, and common variation contributing to ASD susceptibility in the AA population. Specifically, we will enrich existing resources by recruiting at least 600 AA probands and additional family members. Our recruitment plan includes an embedded health disparities project that will evaluate access to care for AAs with ASD and clarify factors influencing participation of AA individuals in genetic research. We will employ novel methods to define the ancestral origin of specific chromosomal segments and ascertain the background on which susceptibility alleles occur. We will perform follow up GWA on ASD-related endophenotypes or co-variates, such as language delay, sex and head circumference. In parallel, we will conduct whole exome sequencing (WES) and analysis of copy number variation (CNV) using 2.5M SNP arrays yielding high resolution molecular karyotypes and providing a resource on genome-wide CNV and coding sequence variation (SNV) in ASD. Gene expression profiling and network analysis will be used to prioritize variants. Genetic risk factors identified in the mostly European samples will be tested for association in the AA sample to determine whether these cohorts share the same genetic risk factors, using a sample size providing power to replicate previous associations and to identify rare, recurrent CNV and SNV. The observation of new forms or different population frequencies of ASD-related variation in this sample as well as the sharing of most CNV and SNV with other cohorts are both outcomes that will have great significance for future studies and clinical care. As has been our practice, our Network will make all phenotypic and genotype data accessible via the internet on a rolling basis, further enhancing the value of this resource to the community.
NDAR
Enrolling
Shared
$11,266,163.00
4,484
1800
793

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NIH - Extramural None


R01MH100027-06 Autism Genetics, Phase II: Increasing Representation of Human Diversity 03/25/2013 02/28/2018 1800 793 UNIVERSITY OF CALIFORNIA LOS ANGELES $11,266,163.00

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Experiments

To create a new Omics, eye tracking, fMRI, or EEG experiment, press the "+ New Experiment" button. Once an experiment is created, then raw files for these types of experiments should be provided, associating the experiment – through Experiment_ID – with the metadata defined in the experiments interface.

IDNameCreated DateStatusType
475MB1-10 (CHOP)06/07/2016ApprovedOmics
321Omni2.5-806/10/2015ApprovedOmics
474Single All AGRE, MBV33-10 (CHOP)06/07/2016ApprovedOmics
3262013-489 targeted linkage peaks06/12/2015ApprovedOmics
517Exomes 2014-407_UCLA; 2014-207_UCSF; 2016-912311/05/2016ApprovedOmics

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Shared Data

Data structures with the number of subjects submitted and shared are provided.

Diagnostic Odyssey Instrument Clinical Assessments 327
Research Subject Clinical Assessments 1049

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Publications

Publications relevant to NDAR data are listed below. Most displayed publications have been associated with the grant within Pubmed. Use the "+ New Publication" button to add new publications. Publications relevant/not relevant to data expected are categorized. Relevant publications are then linked to the underlying data by selecting the Create Study link. Study provides the ability to define cohorts, assign subjects, define outcome measures and lists the study type, data analysis and results. Analyzed data and results are expected in this way.

PubMed IDStudyTitleJournalAuthorsDateStatus
27760116Create StudyChromosome conformation elucidates regulatory relationships in developing human brain.NatureWon H, De La Torre-Ubieta L, Stein JL, Parikshak NN, Huang J, Opland CK, Gandal MJ, Sutton GJ, Hormozdiari F, Lu D, Lee C, Eskin E, Voineagu I, Ernst J, Geschwind DHOctober 2016Not Relevant
27677376Create StudyDexmedetomidine Protects Against Glucocorticoid Induced Progenitor Cell Apoptosis in Neonatal Mouse Cerebellum.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansO'Connor SD, Cabrera OH, Dougherty JD, Singh S, Swiney BS, Salinas-Contreras P, Farber NB, Noguchi KKSeptember 2016Not Relevant
27569545Create StudyRare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.American journal of human geneticsLeppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, Dybuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DHSeptember 2016Not Determined
27219343Create StudyTranscriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia.Translational psychiatryEllis SE, Panitch R, West AB, Arking DEMay 2016Not Relevant
26998600Create StudySchizophrenia genetics complements its mechanistic understanding.Nature neuroscienceRuzzo EK, Geschwind DHApril 2016Not Relevant
26892004Create StudyGene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.Nature communicationsWerling DM, Parikshak NN, Geschwind DH2016Relevant
26824476Create StudyReduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks.PloS oneNebel RA, Zhao D, Pedrosa E, Kirschen J, Lachman HM, Zheng D, Abrahams BS2016Relevant
26627310Create StudyJAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.NeuronBerg JM, Lee C, Chen L, Galvan L, Cepeda C, Chen JY, Peñagarikano O, Stein JL, Li A, Oguro-Ando A, Miller JA, Vashisht AA, Starks ME, Kite EP, Tam E, Gdalyahu A, Al-Sharif NB, Burkett ZD, White SA, Fears SC, Levine MS, Wohlschlegel JA, Geschwind DHDecember 16, 2015Not Determined
26590343Create StudyCorrespondence between Resting-State Activity and Brain Gene Expression.NeuronWang GZ, Belgard TG, Mao D, Chen L, Berto S, Preuss TM, Lu H, Geschwind DH, Konopka GNovember 18, 2015Not Determined
26500678Create StudyMoving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders.Frontiers in geneticsKopp N, Climer S, Dougherty JD2015Not Determined
26404826Create StudyGenetics and genomics of psychiatric disease.Science (New York, N.Y.)Geschwind DH, Flint JSeptember 25, 2015Not Determined
26149713Create StudySystems biology and gene networks in neurodevelopmental and neurodegenerative disorders.Nature reviews. GeneticsParikshak NN, Gandal MJ, Geschwind DHAugust 2015Not Determined
26076356Create StudyReciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.PloS oneNebel RA, Kirschen J, Cai J, Woo YJ, Cherian K, Abrahams BS2015Not Determined
25973164Create StudyRecurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins.Molecular autismWerling DM, Geschwind DH2015Not Determined
25891009Create StudyGene hunting in autism spectrum disorder: on the path to precision medicine.The Lancet. NeurologyGeschwind DH, State MWNovember 2015Not Determined
25789151Create StudyFmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders.Molecular autismOuwenga RL, Dougherty JJanuary 2015Not Determined
25727539Create StudySocial responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8.The American journal of psychiatryLowe JK, Werling DM, Constantino JN, Cantor RM, Geschwind DHMarch 1, 2015Not Determined
25682262Create StudyThe RNA-binding protein Celf6 is highly expressed in diencephalic nuclei and neuromodulatory cell populations of the mouse brain.Brain structure & functionMaloney, Susan E; Khangura, Eakta; Dougherty, Joseph DFebruary 15, 2015Not Relevant
25599223Create StudyPsychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.Nature neuroscienceFebruary 2015Not Determined
25494366Create StudyTranscriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.Nature communicationsGupta S, Ellis SE, Ashar FN, Moes A, Bader JS, Zhan J, West AB, Arking DE2014Not Determined
25360157Create StudyAlteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.Genome medicineTian Y, Voineagu I, Paşca SP, Won H, Chandran V, Horvath S, Dolmetsch RE, Geschwind DHJanuary 2014Not Determined
24618187Create StudyRecent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.International journal of epidemiologyKim YS, State MWApril 2014Not Determined
24574247Create StudyInvestigation of maternal genotype effects in autism by genome-wide association.Autism research : official journal of the International Society for Autism ResearchYuan H, Dougherty JDApril 2014Not Determined
24533643Create StudyReplication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.Molecular autismWerling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH2014Not Determined
24453331Create StudyCell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.The Journal of neuroscience : the official journal of the Society for NeuroscienceXu X, Wells AB, O'Brien DR, Nehorai A, Dougherty JDJanuary 22, 2014Not Determined
24341889Create StudyRNA-Seq optimization with eQTL gold standards.BMC genomicsEllis SE, Gupta S, Ashar FN, Bader JS, West AB, Arking DEDecember 2013Not Relevant
24290388Create StudyOrchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.International review of neurobiologyBill BR, Lowe JK, Dybuncio CT, Fogel BL2013Not Determined
24290383Create StudyIdentifying essential cell types and circuits in autism spectrum disorders.International review of neurobiologyMaloney SE, Rieger MA, Dougherty JD2013Not Determined
24267887Create StudyIntegrative functional genomic analyses implicate specific molecular pathways and circuits in autism.CellParikshak NN, Luo R, Zhang A, Won H, Lowe JK, Chandran V, Horvath S, Geschwind DHNovember 21, 2013Not Determined
24183016Create StudyCortical evolution: judge the brain by its cover.NeuronGeschwind DH, Rakic POctober 30, 2013Not Determined
24147096Create StudyDefining the contribution of CNTNAP2 to autism susceptibility.PloS oneSampath S, Bhat S, Gupta S, O'Connor A, West AB, Arking DE, Chakravarti AJanuary 2013Not Relevant
24090431Create StudySFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).Molecular autismAbrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer AOctober 2013Not Relevant
23975140Create StudyDeNovoGear: de novo indel and point mutation discovery and phasing.Nature methodsRamu A, Noordam MJ, Schwartz RS, Wuster A, Hurles ME, Cartwright RA, Conrad DFOctober 2013Not Determined
23933821Create StudyGenetic relationship between five psychiatric disorders estimated from genome-wide SNPs.Nature geneticsCross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, et al.September 2013Not Determined
23840741Create StudyA Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism.PloS oneTalebizadeh Z, Arking DE, Hu VWJanuary 2013Not Determined
23722009Create StudyMapping connectivity in the developing brain.International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceDennis EL, Thompson PMNovember 2013Not Determined
23453885Create StudyIdentification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.Lancet (London, England)April 2013Not Relevant
23259942Create StudyThe autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.NeuronBuxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW, Autism Sequencing ConsortiumDecember 20, 2012Not Determined

This tab provides a general status on the data expected to be shared. There are two types of data expected.

  1. By Relevant publications — Those publications that reported for the collection's grant and have a status of "relevant" for sharing are listed first. The grantee is expected to share the data specific to those publications using the NDA Study feature. If a publication is erroneously marked relevant, the PI should simply change the status. When sharing a study, only the outcome measures for the subjects/time-points are shared. Other data that have not met the share date, defined below, will remain embargoed. To initiate study creation, simply login, mark your publication as relevant and click on the link listed to begin.

  2. By Data Structure — The number of subjects expected, received and shared is provided. Investigators are expected to update the data that they are collecting, the initial submission date and initial share dates. The NIMH Data Archive shares data when those dates are met.

  3. Submission Exemption — Those with Administrative or Submission Access to the Collection may request an exemption for submission for a defined period by stating the reason and timeframe. Note that the program officer on the grant may review this request.


Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
26892004Create StudyGene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.Nature communicationsWerling DM, Parikshak NN, Geschwind DH2016
26824476Create StudyReduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks.PloS oneNebel RA, Zhao D, Pedrosa E, Kirschen J, Lachman HM, Zheng D, Abrahams BS2016

For those with privileges to edit the collection, it is possible to upload your data definitions using this interface. NDA support staff will then follow up with a harmonized data definition for you to use in providing additional data.

Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Ravens Coloured Progressive Matrices (CPM) info iconApproved
ADI-R info iconApproved
Vineland (Parent and Caregiver) info iconApproved
Ravens Standard Progressive Matrices (SPM) info iconApproved
Physical Exam info iconApproved
Medical History info iconApproved
ADOS info iconApproved
DAS-II: Differential Ability Scales info iconApproved
Demographics info iconApproved
Research Subject and Pedigree info iconApproved
Peabody Picture Vocabulary Test, Fourth Edition info iconApproved
Social Communication Questionnaire (SCQ) info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
EHCI Diagnostic Odyssey Instrument info iconApproved
genomics/omics info iconApproved
Structure not yet defined

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Associated Studies

Studies that have been defined using data from a Collection are important criteria to determine the value of data shared. The number of subjects column displays the counts from this Collection that are included in a Study, out of the total number of subjects in that study. The Data Use column represents whether or not the study is a primary analysis of the data or a secondary analysis. State indicates whether the study is private or shared with the research community.