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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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The filters you have selected from various query interfaces will be stored here, in the 'Filter Cart'. The database will be queried using filters added to your 'Filter Cart', when multiple filters are defined, each will be executed using 'AND' logic, so with each filter that is applied the result set gets smaller.

From the 'Filter Cart' you can inspect each of the filters that have been defined, and you also have the option to remove filters. The 'Filter Cart' itself will display the number of filters applied along with the number of subjects that are identified by the combination of those filters. For example a GUID filter with two subjects, followed by a GUID filter for just one of those subjects would return only data for the subject that is in both GUID filters.

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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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Please enter the name of the data structure to search or if your definition does not exist, please upload that definition so that it can be appropriately defined for submission. Multiple data structures may be associated with a single Data Expected entry. Please add only one data structure per assessment.

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

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.

Funding Source

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.

Supporting Documentation

Any documents related to the project may be uploaded clarifying the data or acquisition methods used may be uploaded and made available here. The default is to share these documents to the general public. An option to share only to qualified Researchers is also an option.

Clinical Trials

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
A Comprehensive Approach to Identification of Autism Susceptibility Genes with the AGRE Center for Genomic and Phenomic Studies in Autism
Clara Lajonchere and Dan Geschwind 
AGRE is a DNA repository and family registry, housing a database of genotypic and phenotypic information that is available to autism researchers worldwide.
NDAR
Closed
Shared
$22,913,744.00
1,165
7200
4065
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NIH - Extramural None


U24MH081810-01 Center for Genomic and Phenomic Studies in Autism 09/28/2007 05/31/2012 6000 2992 UNIVERSITY OF SOUTHERN CALIFORNIA $8,328,838.00
R01MH081754-01 A Comprehensive Approach to Identification of Autism Susceptibility Genes 04/01/2008 01/31/2013 1200 1073 UNIVERSITY OF CALIFORNIA LOS ANGELES $14,584,906.00

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
No records found.

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.

Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 489
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 135
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 76
Autism Diagnostic Observation Schedule (ADOS)- Module 3 Clinical Assessments 206
Autism Diagnostic Observation Schedule (ADOS)- Module 4 Clinical Assessments 42
Child Eyes Test (2006) Clinical Assessments 45
Delis-Kaplan Executive Function System - Tower Test Clinical Assessments 17
Karyotype Clinical Assessments 224
Ravens Coloured Progressive Matrices (CPM) Clinical Assessments 330
Repetitive Behavior Scale - Revised (RBS-R) (2000) Clinical Assessments 244
Smarties Task (2005) Clinical Assessments 36
Social Responsiveness Scale (SRS) - Preschool Version Clinical Assessments 2
Stanford-Binet Intelligence Scales, Fifth Edition (SB5) Clinical Assessments 299
Vineland-II - Parent and Caregiver Rating Form (2005) Clinical Assessments 391

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
28191889Create StudyTargeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Nature geneticsStessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, Van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, et al.February 2017Not Determined
27894273Create StudyPrevalence of non-febrile seizures in children with idiopathic autism spectrum disorder and their unaffected siblings: a retrospective cohort study.BMC neurologyMccue LM, Flick LH, Twyman KA, Xian H, Conturo TENovember 2016Not Determined
27667684Create StudyMutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.CellDoan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG, Nieto M, Walsh CAOctober 2016Not Determined
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 2016Relevant
27566123Create StudyFunctional Connectivity of the Amygdala Is Disrupted in Preschool-Aged Children With Autism Spectrum Disorder.Journal of the American Academy of Child and Adolescent PsychiatryShen MD, Li DD, Keown CL, Lee A, Johnson RT, Angkustsiri K, Rogers SJ, Müller RA, Amaral DG, Nordahl CWSeptember 2016Not Determined
27273931Create StudyPersistence of megalencephaly in a subgroup of young boys with autism spectrum disorder.Autism research : official journal of the International Society for Autism ResearchLibero LE, Nordahl CW, Li DD, Ferrer E, Rogers SJ, Amaral DGNovember 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
26829649Create StudyEngineering microdeletions and microduplications by targeting segmental duplications with CRISPR.Nature neuroscienceTai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski MEMarch 2016Not Determined
26770665Create StudyIncreased expression of the PI3K catalytic subunit p110δ underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family.Molecular autismPoopal AC, Schroeder LM, Horn PS, Bassell GJ, Gross C2016Relevant
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
26590263Create StudyLynx: a knowledge base and an analytical workbench for integrative medicine.Nucleic acids researchSulakhe D, Xie B, Taylor A, D'Souza M, Balasubramanian S, Hashemifar S, White S, Dave UJ, Agam G, Xu J, Wang S, Gilliam TC, Maltsev NJanuary 4, 2016Not Relevant
26508828Create StudyDecreased Phosphorylated Protein Kinase B (Akt) in Individuals with Autism Associated with High Epidermal Growth Factor Receptor (EGFR) and Low Gamma-Aminobutyric Acid (GABA).Biomarker insightsRusso AJJanuary 2015Not Determined
26493496Create StudyImmune Endophenotypes in Children With Autism Spectrum Disorder.Biological psychiatryCareaga M, Rogers S, Hansen RL, Amaral DG, Van De Water J, Ashwood PMarch 2017Not Determined
26391891Create StudyThe Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.Journal of child neurologyKusenda M, Vacic V, Malhotra D, Rodgers L, Pavon K, Meth J, Kumar RA, Christian SL, Peeters H, Cho SS, Addington A, Rapoport JL, Sebat JDecember 2015Not Determined
26279309Create StudyAssessing hippocampal development and language in early childhood: Evidence from a new application of the Automatic Segmentation Adapter Tool.Human brain mappingLee JK, Nordahl CW, Amaral DG, Lee A, Solomon M, Ghetti SNovember 2015Relevant
26184828Create StudyIncreased Surface Area, but not Cortical Thickness, in a Subset of Young Boys With Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism ResearchOhta H, Nordahl CW, Iosif AM, Lee A, Rogers S, Amaral DGFebruary 2016Relevant
26100851Create StudyFemale Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities.Journal of autism and developmental disordersHowe YJ, O'Rourke JA, Yatchmink Y, Viscidi EW, Jones RN, Morrow EMNovember 2015Not Determined
26018425Create StudyVoICE: A semi-automated pipeline for standardizing vocal analysis across models.Scientific reportsBurkett ZD, Day NF, Peñagarikano O, Geschwind DH, White SA2015Not Relevant
25973163Create StudySex differences in the corpus callosum in preschool-aged children with autism spectrum disorder.Molecular autismNordahl CW, Iosif AM, Young GS, Perry LM, Dougherty R, Lee A, Li D, Buonocore MH, Simon T, Rogers S, Wandell B, Amaral DG2015Not Determined
25951243Create StudyThe Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study.PloS oneGdalyahu A, Lazaro M, Penagarikano O, Golshani P, Trachtenberg JT, Gescwind DH2015Not Relevant
25807484Study (367)Loss of δ-catenin function in severe autism.NatureTurner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti AApril 2, 2015Relevant
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 Relevant
25674031Create StudyDecreased plasma myeloperoxidase associated with probiotic therapy in autistic children.Clinical medicine insights. PediatricsRusso AJJanuary 2015Not Determined
25621974Study (370)No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.PLoS geneticsMurdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MWJanuary 2015Relevant
25609168Create StudyExogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism.Science translational medicinePeñagarikano O, Lázaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DHJanuary 21, 2015Not Relevant
25515860Create StudyHeritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.Human geneticsSt Pourcain B, Haworth CM, Davis OS, Wang K, Timpson NJ, Evans DM, Kemp JP, Ronald A, Price T, Meaburn E, Ring SM, Golding J, Hakonarson H, Plomin R, Davey Smith GJune 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
25448322Create StudyLanguage impairment and dyslexia genes influence language skills in children with autism spectrum disorders.Autism research : official journal of the International Society for Autism ResearchEicher JD, Gruen JRApril 2015Not Determined
25409314Create StudyProtein interaction networks reveal novel autism risk genes within GWAS statistical noise.PloS oneCorreia C, Oliveira G, Vicente AM2014Not Determined
25342879Create StudyDecreased Mitogen Inducible Gene 6 (MIG-6) Associated with Symptom Severity in Children with Autism.Biomarker insightsRusso AJanuary 2014Not Determined
25311365Create StudyIncreased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR.Molecular psychiatryOguro-Ando A, Rosensweig C, Herman E, Nishimura Y, Werling D, Bill BR, Berg JM, Gao F, Coppola G, Abrahams BS, Geschwind DHSeptember 2015Not Determined
25249767Create StudyIncreased Epidermal Growth Factor Receptor (EGFR) Associated with Hepatocyte Growth Factor (HGF) and Symptom Severity in Children with Autism Spectrum Disorders (ASDs).Journal of central nervous system diseaseRusso AJJanuary 2014Not Determined
25100326Create StudyViolations of personal space by individuals with autism spectrum disorder.PloS oneKennedy DP, Adolphs R2014Not Determined
25086666Create StudyA framework for the interpretation of de novo mutation in human disease.Nature geneticsSamocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, et al.September 2014Not Determined
25038753Create StudyMost genetic risk for autism resides with common variation.Nature geneticsGaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JDAugust 2014Not Determined
24948611Create StudyLynx web services for annotations and systems analysis of multi-gene disorders.Nucleic acids researchSulakhe D, Taylor A, Balasubramanian S, Feng B, Xie B, Börnigen D, Dave UJ, Foster IT, Gilliam TC, Maltsev NJuly 2014Not Determined
24927284Create StudyThe impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.Nature communicationsHadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J, AGP Consortium, Glessner J, Hakonarson H2014Not Determined
24906019Create StudyTranscriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.American journal of human geneticsBlumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski MEJune 5, 2014Not Determined
24866414Create StudyZinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism.Journal of psychiatry & neuroscience : JPNAnitha A, Thanseem I, Nakamura K, Vasu MM, Yamada K, Ueki T, Iwayama Y, Toyota T, Tsuchiya KJ, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori NSeptember 2014Not Determined
24839890Create StudyAscertainment and gender in autism spectrum disorders.Journal of the American Academy of Child and Adolescent PsychiatryHowe YJ, Yatchmink Y, Viscidi EW, Morrow EMJune 2014Not Determined
24752249Create StudyRare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.PloS oneBreitenkamp AF, Matthes J, Nass RD, Sinzig J, Lehmkuhl G, Nürnberg P, Herzig S2014Not Determined
24679536Create StudyPsychiatric disorders: diagnosis to therapy.CellKrystal JH, State MWMarch 27, 2014Not Determined
24651471Create StudyDUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism.PLoS geneticsDavis JM, Searles VB, Anderson N, Keeney J, Dumas L, Sikela JMMarch 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
24373520Create StudyGenetically meaningful phenotypic subgroups in autism spectrum disorders.Genes, brain, and behaviorVeatch OJ, Veenstra-Vanderweele J, Potter M, Pericak-Vance MA, Haines JLMarch 2014Not Determined
24290388Create StudyOrchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.International review of neurobiologyBill BR, Lowe JK, Dybuncio CT, Fogel BL2013Not Determined
24270788Create StudyLynx: a database and knowledge extraction engine for integrative medicine.Nucleic acids researchSulakhe D, Balasubramanian S, Xie B, Feng B, Taylor A, Wang S, Berrocal E, Dave U, Xu J, Börnigen D, Gilliam TC, Maltsev NJanuary 2014Not Determined
24207117Create StudyThe roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.American journal of human geneticsSteinberg J, Webber CNovember 7, 2013Not Determined
24204716Create StudyA genome-wide survey of transgenerational genetic effects in autism.PloS oneTsang KM, Croen LA, Torres AR, Kharrazi M, Delorenze GN, Windham GC, Yoshida CK, Zerbo O, Weiss LA2013Not 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 A2013Not Relevant
24132906Create StudySex-specific association of a common variant of the XG gene with autism spectrum disorders.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsChang SC, Pauls DL, Lange C, Sasanfar R, Santangelo SLOctober 2013Not Determined
24068789Create StudyLack of association between autism and anti-GM1 ganglioside antibody.NeurologyMoeller S, Lau NM, Green PH, Hellberg D, Higgins JJ, Rajadhyaksha AM, Alaedini AOctober 29, 2013Not Determined
24058641Create StudyMode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study.PloS oneDavis JM, Keeney JG, Sikela JM, Hepburn S2013Not Determined
23977206Create StudyRuns of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.PloS oneLin PI, Kuo PH, Chen CH, Wu JY, Gau SS, Wu YY, Liu SK2013Not Determined
23861807Create StudyClinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.PloS oneViscidi EW, Triche EW, Pescosolido MF, McLean RL, Joseph RM, Spence SJ, Morrow EM2013Not Determined
23838881Create StudyA proof-of-concept study: exon-level expression profiling and alternative splicing in autism using lymphoblastoid cell lines.Psychiatric geneticsTalebizadeh Z, Aldenderfer R, Wen Chen XFebruary 2014Not Determined
23823064Create StudyMarkers of Celiac Disease and Gluten Sensitivity in Children with Autism.PloS oneLau NM, Green PH, Taylor AK, Hellberg D, Ajamian M, Tan CZ, Kosofsky BE, Higgins JJ, Rajadhyaksha AM, Alaedini AJanuary 2013Not Determined
23766106Create StudyNecrosis is increased in lymphoblastoid cell lines from children with autism compared with their non-autistic siblings under conditions of oxidative and nitrosative stress.MutagenesisMain PA, Thomas P, Esterman A, Fenech MFJuly 2013Not Determined
23724825Create StudySensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method.BMC genomicsBaugher JD, Baugher BD, Shirley MD, Pevsner J2013Not 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
23702184Create StudyWITHDRAWN: Mapping Connectivity in the Developing Brain.International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceDennis EL, Thompson PMMay 20, 2013Not Determined
23645980Create StudyDecreased Epidermal Growth Factor (EGF) Associated with HMGB1 and Increased Hyperactivity in Children with Autism.Biomarker insightsRusso AJJanuary 2013Not Determined
23632714Create StudySerologic markers of Lyme disease in children with autism.JAMAAjamian M, Kosofsky BE, Wormser GP, Rajadhyaksha AM, Alaedini AMay 1, 2013Not Determined
23407934Create StudyThe disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.The Journal of neuroscience : the official journal of the Society for NeuroscienceDougherty JD, Maloney SE, Wozniak DF, Rieger MA, Sonnenblick L, Coppola G, Mahieu NG, Zhang J, Cai J, Patti GJ, Abrahams BS, Geschwind DH, Heintz NFebruary 13, 2013Not Determined
23395715Create StudyMaternal autoantibodies are associated with abnormal brain enlargement in a subgroup of children with autism spectrum disorder.Brain, behavior, and immunityNordahl CW, Braunschweig D, Iosif AM, Lee A, Rogers S, Ashwood P, Amaral DG, Van de Water JMay 2013Not Determined
23352160Create StudyRare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.NeuronLim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, et al.January 23, 2013Not Determined
23352155Create StudyRare inherited variation in autism: beginning to see the forest and a few trees.NeuronStein JL, Parikshak NN, Geschwind DHJanuary 23, 2013Not Determined
23341896Create StudyIdentification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.PloS oneMatsunami N, Hadley D, Hensel CH, Christensen GB, Kim C, Frackelton E, Thomas K, da Silva RP, Stevens J, Baird L, Otterud B, Ho K, Varvil T, Leppert T, Lambert CG, Leppert M, Hakonarson H2013Not Determined
23226454Create StudyThe effects of birth order and birth interval on the phenotypic expression of autism spectrum disorder.PloS oneMartin LA, Horriat NL2012Not Determined
23164818Create StudyCommon variant at 16p11.2 conferring risk of psychosis.Molecular psychiatrySteinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, et al.January 2014Not Determined
23130936Create StudyEvaluating mitochondrial DNA variation in autism spectrum disorders.Annals of human geneticsHadjixenofontos A, Schmidt MA, Whitehead PL, Konidari I, Hedges DJ, Wright HH, Abramson RK, Menon R, Williams SM, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA, Martin ER, McCauley JLJanuary 2013Not Determined
23063420Create StudyMyeloid dendritic cells frequencies are increased in children with autism spectrum disorder and associated with amygdala volume and repetitive behaviors.Brain, behavior, and immunityBreece E, Paciotti B, Nordahl CW, Ozonoff S, Van de Water JA, Rogers SJ, Amaral D, Ashwood PJuly 2013Not Determined
23044707Create StudyUsing large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.Molecular psychiatryMoreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DHOctober 2013Relevant
23031252Create StudyProtocadherin α (PCDHA) as a novel susceptibility gene for autism.Journal of psychiatry & neuroscience : JPNAnitha A, Thanseem I, Nakamura K, Yamada K, Iwayama Y, Toyota T, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori NMay 2013Not Determined
22984058Create StudyNeuroscience. The emerging biology of autism spectrum disorders.Science (New York, N.Y.)State MW, Šestan NSeptember 14, 2012Not Determined
22965006Create StudyPredicting the diagnosis of autism spectrum disorder using gene pathway analysis.Molecular psychiatrySkafidas E, Testa R, Zantomio D, Chana G, Everall IP, Pantelis CApril 2014Not Determined
22872163Create StudyInhibin B and anti-Müllerian hormone/Müllerian-inhibiting substance may contribute to the male bias in autism.Translational psychiatryPankhurst MW, McLennan IS2012Not Determined
22849751Create StudyAutism genetics: searching for specificity and convergence.Genome biologyBerg JM, Geschwind DH2012Not Determined
22843504Create StudyIndividual common variants exert weak effects on the risk for autism spectrum disorderspi.Human molecular geneticsAnney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, et al.November 1, 2012Not Determined
22730494Create StudyRBFOX1 regulates both splicing and transcriptional networks in human neuronal development.Human molecular geneticsFogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DHOctober 1, 2012Not Determined
22726847Create StudyGenome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.American journal of human geneticsLuo R, Sanders SJ, Tian Y, Voineagu I, Huang N, Chu SH, Klei L, Cai C, Ou J, Lowe JK, Hurles ME, Devlin B, State MW, Geschwind DHJuly 13, 2012Not Determined
22689755Create StudyDELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism.Bioinformatics (Oxford, England)Aguiar D, Halldórsson BV, Morrow EM, Istrail SJune 15, 2012Not Determined
22566635Create StudyA common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.Proceedings of the National Academy of Sciences of the United States of AmericaCelestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, et al.May 22, 2012Not Determined
22558107Create StudyHigh-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.PloS oneKelleher RJ, Geigenmüller U, Hovhannisyan H, Trautman E, Pinard R, Rathmell B, Carpenter R, Margulies D2012Not Determined
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22412387Create StudyNetworks of neuronal genes affected by common and rare variants in autism spectrum disorders.PLoS geneticsBen-David E, Shifman SJanuary 2012Not Determined
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21484201Create StudyNovel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.Journal of neurodevelopmental disordersVieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P, June 2011Relevant
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21151189Create StudyAllowing for sex differences increases power in a GWAS of multiplex Autism families.Molecular psychiatryLu AT, Cantor RMFebruary 2012Not Determined
21129367Create StudyThe promise and the pitfalls of autism research: an introductory note for new autism researchers.Brain researchAmaral DGMarch 22, 2011Not Determined
21055719Create StudyDeletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.American journal of human geneticsMoreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ, GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, et al.November 12, 2010Not Determined
21048216Create StudyAltered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2.Science translational medicineScott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford JA, Poldrack RA, Dapretto M, Geschwind DH, Bookheimer SYNovember 3, 2010Not Determined
20955925Create StudyChanging the landscape of autism research: the autism genetic resource exchange.NeuronLajonchere CM, AGRE ConsortiumOctober 21, 2010Not Determined
20663923Create StudyA genome-wide scan for common alleles affecting risk for autism.Human molecular geneticsAnney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, et al.October 15, 2010Not Determined
20623818Create StudyEvaluating diagnostic accuracy of genetic profiles in affected offspring families.Statistics in medicineCarayol J, Tores F, König IR, Hager J, Ziegler ASeptember 30, 2010Not Determined
20552678Create StudyAccuracy of phenotyping of autistic children based on Internet implemented parent report.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsLee H, Marvin AR, Watson T, Piggot J, Law JK, Law PA, Constantino JN, Nelson SFSeptember 2010Not Determined
20531469Create StudyFunctional impact of global rare copy number variation in autism spectrum disorders.NaturePinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, et al.July 15, 2010Not Determined
20437600Create StudyA unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families.Autism research : official journal of the International Society for Autism ResearchAllen-Brady K, Cannon D, Robison R, McMahon WM, Coon HApril 2010Not Determined
20375269Create StudyGlobal methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain.FASEB journal : official publication of the Federation of American Societies for Experimental BiologyNguyen A, Rauch TA, Pfeifer GP, Hu VWAugust 2010Not Determined
20029941Create StudyA co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Geneticsvan der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV, Verbeek NE, van 't Slot R, van Es MA, Staal FJ, Freitag CM, Buizer-Voskamp JE, Nelen MR, van den Berg LH, van Amstel HK, van Engeland H, Burbach JPJune 5, 2010Not Determined
20012890Create StudyA genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.Behavior geneticsRonald A, Butcher LM, Docherty S, Davis OS, Schalkwyk LC, Craig IW, Plomin RJanuary 2010Not Determined
19936905Create StudyBrief report: Under-representation of African americans in autism genetic research: a rationale for inclusion of subjects representing diverse family structures.Journal of autism and developmental disordersHilton CL, Fitzgerald RT, Jackson KM, Maxim RA, Bosworth CC, Shattuck PT, Geschwind DH, Constantino JNMay 2010Not Determined
19874940Create StudyAutism: the ups and downs of neuroligin.Biological psychiatryGeschwind DHNovember 15, 2009Not Determined
19855392Create StudyMicroduplications of 16p11.2 are associated with schizophrenia.Nature geneticsMccarthy SE, Makarov V, Kirov G, Addington AM, Mcclellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, et al.November 2009Not Determined
19812673Create StudyA genome-wide linkage and association scan reveals novel loci for autism.NatureWeiss LA, Arking DE, Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti AOctober 8, 2009Not Determined
19761602Create StudyLocations and patterns of meiotic recombination in two-generation pedigrees.BMC medical geneticsTing JC, Roberson ED, Currier DG, Pevsner J2009Not Determined
19630577Create StudyAdvances in autism.Annual review of medicineGeschwind DH2009Not Determined
19557195Create StudyGenome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.PLoS geneticsBucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, et al.June 2009Not Determined
19546099Create StudyA de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.Journal of medical geneticsKumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WBFebruary 2010Not Determined
19477629Create StudyGenetic advances in autism: heterogeneity and convergence on shared pathways.Current opinion in genetics & developmentBill BR, Geschwind DHJune 2009Not Determined
19455643Create StudyNovel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders.Autism research : official journal of the International Society for Autism ResearchHu VW, Steinberg MEApril 2009Not Determined
19455149Create StudyHigh-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.Molecular psychiatryStrom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SFOctober 2010Not Determined
19418574Create StudyGene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism.Autism research : official journal of the International Society for Autism ResearchHu VW, Sarachana T, Kim KS, Nguyen A, Kulkarni S, Steinberg ME, Luu T, Lai Y, Lee NHApril 2009Not Determined
19404257Create StudyAutism genome-wide copy number variation reveals ubiquitin and neuronal genes.NatureGlessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, et al.May 28, 2009Not Determined
19404256Create StudyCommon genetic variants on 5p14.1 associate with autism spectrum disorders.NatureWang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, et al.May 28, 2009Not Determined
19360675Create StudyA large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders.Autism research : official journal of the International Society for Autism ResearchSakurai T, Reichert J, Hoffman EJ, Cai G, Jones HB, Faham M, Buxbaum JDAugust 2008Not Determined
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19135727Create StudyContact in the genetics of autism and schizophrenia.Trends in neurosciencesBurbach JP, van der Zwaag BFebruary 2009Not Determined
19125863Create StudyMethyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.Genes, brain, and behaviorLoat CS, Curran S, Lewis CM, Duvall J, Geschwind D, Bolton P, Craig IWOctober 2008Not Determined
18987363Create StudyA functional genetic link between distinct developmental language disorders.The New England journal of medicineVernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SENovember 27, 2008Not Determined
18957284Create StudyMutations in the gene encoding CADM1 are associated with autism spectrum disorder.Biochemical and biophysical research communicationsZhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MYDecember 19, 2008Not Determined
18832372Create StudyModeling genetic inheritance of copy number variations.Nucleic acids researchWang K, Chen Z, Tadesse MG, Glessner J, Grant SF, Hakonarson H, Bucan M, Li MDecember 2008Not Determined
18805830Create StudyMicrodeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.Journal of medical geneticsMiller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, et al.April 2009Not Determined
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18704077Create StudyAutism: Family connections.NatureGeschwind DHAugust 14, 2008Not Determined
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Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
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 2016
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23044707Create StudyUsing large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.Molecular psychiatryMoreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DHOctober 2013
21484201Create StudyNovel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.Journal of neurodevelopmental disordersVieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P, June 2011
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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.

Study Name Description Number of Subjects
Collection / Total
Data Use State
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex families NOTE: NOT ALL DATA HAS BEEN UPLOADED FOR THIS STUDY. Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts. 179 / 5288 Primary Analysis Shared
* Data not on individual level
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