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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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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

Please select an experiment type below

SelectExperiment IdExperiment NameExperiment Type
  • Select One
  • EEG
  • EGG
  • Eye Tracking
  • Omics
  • fMRI
Created On
943Emotional Face TaskfMRI06/13/2018
941Meridians localizerfMRI06/07/2018
940V1 localizer movingDotsfMRI06/07/2018
938MT localizer dots movingDotsfMRI06/07/2018
937MT localizer gratings movingDotsfMRI06/07/2018
936V1 localizer peripheryfMRI06/07/2018
935Contrast peripheryfMRI06/07/2018
934MT localizer peripheryfMRI06/07/2018
933Pilot01: Posner Cueing with st-tACSEye Tracking06/06/2018
932Social- Theory of Mind Localizer TaskfMRI06/01/2018
931Faces TaskfMRI05/31/2018
929Moral RatingfMRI05/30/2018
928Pain Detection fMRI05/30/2018
927Reward TaskfMRI05/30/2018
926Go no Go TaskfMRI05/30/2018
924EARLI Placenta WGBSOmics05/24/2018
923Anxiety-CBT fMRI (pre-post) - Version 4 BlockfMRI05/15/2018
922Anxiety-CBT fMRI (pre-post) - Version 3 BlockfMRI05/15/2018
921Anxiety-CBT fMRI (pre-post) - Version 2 BlockfMRI05/15/2018
920Anxiety-CBT fMRI (pre-post) - Version 1 BlockfMRI05/15/2018
919Neural overlap in item representations across episodes impairs context memoryfMRI05/11/2018
918ReferenceTissue: U01MH106892_Brain_Amplicon_SeqOmics05/08/2018
914PFC analysis in bloodOmics04/27/2018
913Task and emotional content driven visual competitionfMRI04/27/2018
912Task and emotional content driven visual competitionEEG04/23/2018
911Resting StatefMRI04/20/2018
910Modified Monetary Incentive Delay fMRI04/20/2018
908Resting State Pre-Stress Visit 1fMRI04/20/2018
907Montreal Imaging Stress Task Visit 1fMRI04/18/2018
9062-back Post-Stress Visit 1fMRI04/18/2018
9051-back Post-Stress Visit 1fMRI04/18/2018
9040-back Post-Stress Visit 1fMRI04/18/2018
9032-back Pre-Stress Visit 1fMRI04/18/2018
9021-back Pre-Stress Visit 1fMRI04/18/2018
9010-back Pre-Stress Visit 1fMRI04/18/2018
899Investigating a Neurobehavioral Mechanism of Paranoia - Resting State ScansfMRI04/06/2018
893Startle Habituation and Shock Sensitivity EvaluationEEG03/03/2018
892NPU EEG Task EEG03/03/2018
891Duke ACE ETEye Tracking03/02/2018
889Social 2.2 Intersubject synchrony: Effect of social contextfMRI02/26/2018
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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:


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
UCLA Sigman/Bookheimer ACE and ARRA
Sigman M, Geschwind D, Bookheimer S 
ACE Projects: 1) PI Sigman - Infant Sibs. 2) PI Geschwind - Genetics. 3) PI Dapretto - Mirror neuron and imaging. 4) PI Kasari - Optimizing outcomes for toddlers. 5) PI McCracken - Understanding repetitive behaviors. ARRA: PI Bookheimer - Neural and Phenotypic Correlates of Autism Risk Genes
Funding Completed
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NIH - Extramural None

P50HD055784-01 Determinants of Social, Communicative, and Other Core Deficits in Autism 08/06/2007 07/31/2012 340 533 UNIVERSITY OF CALIFORNIA LOS ANGELES $11,465,042.00
R01HD065280-01 Neural and Phenotypic Correlates of Autism Risk Genes 09/30/2009 08/31/2012 120 20 UNIVERSITY OF CALIFORNIA LOS ANGELES $1,090,114.00

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


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
65SNP genotypes Illumina 370k07/30/2012ApprovedOmics
67SNP genotypes Illumina Omni-1: 2010-139, 2010-043, 2011-00508/20/2012ApprovedOmics
68SNP genotypes Illumina OmniExpress: 2011-01508/20/2012ApprovedOmics

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 286
Autism Diagnostic Observation Schedule (ADOS) - Module 4 Clinical Assessments 4
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 3
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 37
Autism Diagnostic Observation Schedule (ADOS)- Module 3 Clinical Assessments 144
CHARGE Medical History Clinical Assessments 211
CHARGE Physical Exam Clinical Assessments 193
Genomics Sample Genomics 180
Genomics Subject Genomics 180
Image Imaging 161
Karyotype Clinical Assessments 22
Modified CHARGE Family Medical History (2007) Clinical Assessments 161
Mullen Scales of Early Learning Clinical Assessments 101
Stanford-Binet Intelligence Scales, Fifth Edition (SB5) Clinical Assessments 29
Vineland-II - Parent and Caregiver Rating Form (2005) Clinical Assessments 257
Wechsler Intelligence Scale for Children - IV [part 2] Clinical Assessments 65

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


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
29689375Create StudyInterhemispheric alpha-band hypoconnectivity in children with autism spectrum disorder.Behavioural brain researchDickinson A, Distefano C, Lin YY, Scheffler AW, Senturk D, Jeste SSApril 2018Not Determined
28900778Create StudyEarly Gesture and Vocabulary Development in Infant Siblings of Children with Autism Spectrum Disorder.Journal of autism and developmental disordersIverson JM, Northrup JB, Leezenbaum NB, Parladé MV, Koterba EA, West KLJanuary 2018Not Determined
28700096Create StudyPeak alpha frequency is a neural marker of cognitive function across the autism spectrum.The European journal of neuroscienceDickinson A, Distefano C, Senturk D, Spurling Jeste SJuly 12, 2017Relevant
28291247Create StudyEnhancing studies of the connectome in autism using the autism brain imaging data exchange II.Scientific dataDi Martino A, O'Connor D, Chen B, Alaerts K, Anderson JS, Assaf M, Balsters JH, Baxter L, Beggiato A, Bernaerts S, Blanken LM, Bookheimer SY, Braden BB, Byrge L, Castellanos FX, Dapretto M, Delorme R, Fair DA, Fishman I, Fitzgerald J, Gallagher L, Keehn RJ, Kennedy DP, Lainhart JE, Luna B, et al.March 2017Not Relevant
28284787Create StudySensory over-responsivity and social cognition in ASD: Effects of aversive sensory stimuli and attentional modulation on neural responses to social cues.Developmental cognitive neuroscienceGreen SA, Hernandez LM, Bowman HC, Bookheimer SY, Dapretto MJanuary 2018Not Determined
28132692Create StudyA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.American journal of human geneticsSchoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, Mcconkie-Rosell A, Mcdonald M, Wechsler SB, Freemark M, Kansagra S, et al.February 2017Not Relevant
28009726Create StudyThe emergence of autism spectrum disorder: insights gained from studies of brain and behaviour in high-risk infants.Current opinion in psychiatryVarcin KJ, Jeste SSMarch 2017Not Relevant
27940149Create StudyClose genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs.GenomicsZhu Z, Lu X, Yuan D, Huang SJanuary 2017Not Determined
27896947Create StudyReduced modulation of thalamocortical connectivity during exposure to sensory stimuli in ASD.Autism research : official journal of the International Society for Autism ResearchGreen SA, Hernandez L, Bookheimer SY, Dapretto MNovember 2016Not Determined
27860216Create StudySomatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.American journal of medical genetics. Part C, Seminars in medical geneticsKeppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JADecember 2016Not Determined
27843152Create StudyAdditive effects of oxytocin receptor gene polymorphisms on reward circuitry in youth with autism.Molecular psychiatryHernandez LM, Krasileva K, Green SA, Sherman LE, Ponting C, Mccarron R, Lowe JK, Geschwind DH, Bookheimer SY, Dapretto MAugust 2017Not Determined
27814521Create StudyThe Central Nervous System and the Gut Microbiome.CellSharon G, Sampson TR, Geschwind DH, Mazmanian SKNovember 2016Not Determined
27601973Create StudyNoise Reduction in Arterial Spin Labeling Based Functional Connectivity Using Nuisance Variables.Frontiers in neuroscienceJann K, Smith RX, Rios Piedra EA, Dapretto M, Wang DJJanuary 2016Not Determined
27358719Create StudyCommentary: sex difference differences? A reply to Constantino.Molecular autismMessinger DS, Young GS, Webb SJ, Ozonoff S, Bryson SE, Carter A, Carver L, Charman T, Chawarska K, Curtin S, Dobkins K, Hertz-Picciotto I, Hutman T, Iverson JM, Landa R, Nelson CA, Stone WL, Tager-Flusberg H, Zwaigenbaum L2016Not Relevant
27343889Create StudySalience Network Connectivity in Autism Is Related to Brain and Behavioral Markers of Sensory Overresponsivity.Journal of the American Academy of Child and Adolescent PsychiatryGreen SA, Hernandez L, Bookheimer SY, Dapretto MJuly 2016Not Determined
27158270Create StudyIdentification of a distinct developmental and behavioral profile in children with Dup15q syndrome.Journal of neurodevelopmental disordersDistefano C, Gulsrud A, Huberty S, Kasari C, Cook E, Reiter LT, Thibert R, Jeste SSJanuary 2016Not Relevant
26881074Create StudyTheory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age.Autism research and treatmentTsang T, Gillespie-Lynch K, Hutman TJanuary 2016Not Determined
26797940Create StudyIncreasing Responsive Parent-Child Interactions and Joint Engagement: Comparing the Influence of Parent-Mediated Intervention and Parent Psychoeducation.Journal of autism and developmental disordersShire SY, Gulsrud A, Kasari CMay 2016Not Determined
26687839Create StudyCytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes.NeuronLee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KCJanuary 6, 2016Not Relevant
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
26527311Create StudyJoint engagement modulates object discrimination in toddlers: a pilot electrophysiological investigation.Social neuroscienceHutman T, Harrop C, Baker E, Elder L, Abood K, Soares A, Jeste SSNovember 25, 2015Not Determined
26525461Create StudyIsolating active ingredients in a parent-mediated social communication intervention for toddlers with autism spectrum disorder.Journal of child psychology and psychiatry, and allied disciplinesGulsrud AC, Hellemann G, Shire S, Kasari CMay 2016Not Determined
26509118Create StudyNeural mechanisms of response inhibition and impulsivity in 22q11.2 deletion carriers and idiopathic attention deficit hyperactivity disorder.NeuroImage. ClinicalMontojo CA, Congdon E, Hwang L, Jalbrzikowski M, Kushan L, Vesagas TK, Jonas RK, Ventura J, Bilder RM, Bearden CE2015Not Determined
26451968Create StudySchool-age outcomes of infants at risk for autism spectrum disorder.Autism research : official journal of the International Society for Autism ResearchMiller M, Iosif AM, Young GS, Hill M, Phelps Hanzel E, Hutman T, Johnson S, Ozonoff SOctober 9, 2015Not Determined
26445698Create StudyAltered resting perfusion and functional connectivity of default mode network in youth with autism spectrum disorder.Brain and behaviorJann K, Hernandez LM, Beck-Pancer D, McCarron R, Smith RX, Dapretto M, Wang DJSeptember 2015Not Determined
26374786Create StudyAutism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?Journal of child neurologyJeste SS, Tuchman RDecember 2015Not Determined
26201030Create StudyTranscriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder.PloS oneJalbrzikowski M, Lazaro MT, Gao F, Huang A, Chow C, Geschwind DH, Coppola G, Bearden CE2015Not Relevant
26164418Create StudyInfants' behavioral styles in joint attention situations and parents' socio-economic status.Infant behavior & developmentAbels M, Hutman TAugust 2015Not Determined
26106930Create StudyCharacterizing Resting-State Brain Function Using Arterial Spin Labeling.Brain connectivityChen JJ, Jann K, Wang DJNovember 2015Not Relevant
26096080Create StudyWavelet-based regularity analysis reveals recurrent spatiotemporal behavior in resting-state fMRI.Human brain mappingSmith RX, Jann K, Ances B, Wang DJSeptember 2015Not Determined
26061819Create StudyNeurobiology of Sensory Overresponsivity in Youth With Autism Spectrum Disorders.JAMA psychiatryGreen SA, Hernandez L, Tottenham N, Krasileva K, Bookheimer SY, Dapretto MAugust 2015Not Determined
26045943Create StudyEarly sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study.Molecular autismMessinger DS, Young GS, Webb SJ, Ozonoff S, Bryson SE, Carter A, Carver L, Charman T, Chawarska K, Curtin S, Dobkins K, Hertz-Picciotto I, Hutman T, Iverson JM, Landa R, Nelson CA, Stone WL, Tager-Flusberg H, Zwaigenbaum L2015Not Determined
26018425Create StudyVoICE: A semi-automated pipeline for standardizing vocal analysis across models.Scientific reportsBurkett, Zachary D; Day, Nancy F; Peñagarikano, Olga; Geschwind, Daniel H; White, Stephanie A2015Not Relevant
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
25948600Create StudyCharacterizing caregiver responses to restricted and repetitive behaviors in toddlers with autism spectrum disorder.Autism : the international journal of research and practiceHarrop C, Gulsrud A, Shih W, Hovsepyan L, Kasari CApril 2016Not Determined
25891009Create StudyGene hunting in autism spectrum disorder: on the path to precision medicine.The Lancet. NeurologyGeschwind DH, State MWNovember 2015Not Determined
25891007Create StudyNeuroimaging in autism spectrum disorder: brain structure and function across the lifespan.The Lancet. NeurologyEcker C, Bookheimer SY, Murphy DGNovember 2015Not Determined
25822242Create StudyRandomized comparative efficacy study of parent-mediated interventions for toddlers with autism.Journal of consulting and clinical psychologyKasari C, Gulsrud A, Paparella T, Hellemann G, Berry KJune 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 Relevant
25715178Create StudyCognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.JAMA psychiatryVorstman, Jacob A S; Breetvelt, Elemi J; Duijff, Sasja N; Eliez, Stephan; Schneider, Maude; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Shashi, Vandana; Hooper, Stephen R; Chow, Eva W C; Fung, Wai Lun Alan; Butcher, Nancy J; Young, Donald A; McDonald-McGinn, Donna M; Vogels, Annick; van Amelsvoort, Therese; Gothelf, Doron; Weinberger, Ronnie; Weizman, Abraham; Klaassen, Petra W J; Koops, Sanne; Kates, Wendy R; Antshel, Kevin M; Simon, Tony J; Ousley, Opal Y; Swillen, Ann; Gur, Raquel E; Bearden, Carrie E; Kahn, René S; Bassett, Anne S; International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeApril 2015Not Relevant
25695138Create StudyDevelopmental disorders.Current opinion in neurologyJeste SS, Geschwind DHApril 2015Not Relevant
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
25463468Create StudyFunctional connectivity in BOLD and CBF data: similarity and reliability of resting brain networks.NeuroImageJann K, Gee DG, Kilroy E, Schwab S, Smith RX, Cannon TD, Wang DJFebruary 1, 2015Not Relevant
25457930Create Study18-month predictors of later outcomes in younger siblings of children with autism spectrum disorder: a baby siblings research consortium study.Journal of the American Academy of Child and Adolescent PsychiatryChawarska K, Shic F, Macari S, Campbell DJ, Brian J, Landa R, Hutman T, Nelson CA, Ozonoff S, Tager-Flusberg H, Young GS, Zwaigenbaum L, Cohen IL, Charman T, Messinger DS, Klin A, Johnson S, Bryson SDecember 2014Not Relevant
25418720Create StudyMaternal inflammation contributes to brain overgrowth and autism-associated behaviors through altered redox signaling in stem and progenitor cells.Stem cell reportsLe Belle JE, Sperry J, Ngo A, Ghochani Y, Laks DR, López-Aranda M, Silva AJ, Kornblum HINovember 11, 2014Not Relevant
25409314Create StudyProtein interaction networks reveal novel autism risk genes within GWAS statistical noise.PloS oneCorreia C, Oliveira G, Vicente AM2014Not Determined
25315782Create StudyEarly pragmatic language difficulties in siblings of children with autism: implications for DSM-5 social communication disorder?Journal of child psychology and psychiatry, and allied disciplinesMiller M, Young GS, Hutman T, Johnson S, Schwichtenberg AJ, Ozonoff SJuly 2015Not Determined
25245349Create StudyEarly head growth in infants at risk of autism: a baby siblings research consortium study.Journal of the American Academy of Child and Adolescent PsychiatryZwaigenbaum L, Young GS, Stone WL, Dobkins K, Ozonoff S, Brian J, Bryson SE, Carver LJ, Hutman T, Iverson JM, Landa RJ, Messinger DOctober 2014Not Determined
25078724Create StudyTime reproduction performance is associated with age and working memory in high-functioning youth with autism spectrum disorder.Autism research : official journal of the International Society for Autism ResearchBrenner LA, Shih VH, Colich NL, Sugar CA, Bearden CE, Dapretto MFebruary 2015Not Relevant
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
25011468Create StudyNeural signatures of autism spectrum disorders: insights into brain network dynamics.Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyHernandez LM, Rudie JD, Green SA, Bookheimer S, Dapretto MJanuary 2015Not Relevant
24577245Create StudyPsychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.The American journal of psychiatrySchneider M, Debbané M, Bassett AS, Chow EW, Fung WL, van den Bree M, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PW, Swillen A, Gothelf D, Green T, Weizman A, Van Amelsvoort T, Evers L, Boot E, et al.June 2014Not Relevant
24497750Create StudyAtypical Neural Processing of Ironic and Sincere Remarks in Children and Adolescents with Autism Spectrum Disorders.Metaphor and symbolColich NL, Wang AT, Rudie JD, Hernandez LM, Bookheimer SY, Dapretto M2012Not Relevant
24353275Create StudyIs early joint attention associated with school-age pragmatic language?Autism : the international journal of research and practiceGillespie-Lynch K, Khalulyan A, Del Rosario M, McCarthy B, Gomez L, Sigman M, Hutman TFebruary 2015Not Determined
24273724Create StudyStructural abnormalities in cortical volume, thickness, and surface area in 22q11.2 microdeletion syndrome: Relationship with psychotic symptoms.NeuroImage. ClinicalJalbrzikowski M, Jonas R, Senturk D, Patel A, Chow C, Green MF, Bearden CE2013Not Relevant
24183016Create StudyCortical evolution: judge the brain by its cover.NeuronGeschwind DH, Rakic POctober 30, 2013Not Relevant
24179761Create StudyAltered functional and structural brain network organization in autism.NeuroImage. ClinicalRudie JD, Brown JA, Beck-Pancer D, Hernandez LM, Dennis EL, Thompson PM, Bookheimer SY, Dapretto MJanuary 2012Not Determined
24177988Create StudyNeural substrates of inhibitory control deficits in 22q11.2 deletion syndrome.Cerebral cortex (New York, N.Y. : 1991)Montojo CA, Jalbrzikowski M, Congdon E, Domicoli S, Chow C, Dawson C, Karlsgodt KH, Bilder RM, Bearden CEApril 2015Not Relevant
24157390Create StudyOverreactive brain responses to sensory stimuli in youth with autism spectrum disorders.Journal of the American Academy of Child and Adolescent PsychiatryGreen SA, Rudie JD, Colich NL, Wood JJ, Shirinyan D, Hernandez L, Tottenham N, Dapretto M, Bookheimer SYNovember 2013Not Relevant
24104518Create StudyThe association between parental interaction style and children's joint engagement in families with toddlers with autism.Autism : the international journal of research and practicePatterson SY, Elder L, Gulsrud A, Kasari CJuly 2014Not Relevant
24099842Create StudyDynamic and static contributions of the cerebrovasculature to the resting-state BOLD signal.NeuroImageTak S, Wang DJ, Polimeni JR, Yan L, Chen JJJanuary 1, 2014Not Relevant
24078018Create StudyUnderconnectivity of the superior temporal sulcus predicts emotion recognition deficits in autism.Social cognitive and affective neuroscienceAlaerts K, Woolley DG, Steyaert J, Di Martino A, Swinnen SP, Wenderoth NOctober 2014Not Determined
23992925Create StudyThe 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.Biological psychiatryJonas RK, Montojo CA, Bearden CEMarch 1, 2014Not Relevant
23912681Create StudyDefault mode network connectivity and reciprocal social behavior in 22q11.2 deletion syndrome.Social cognitive and affective neuroscienceSchreiner MJ, Karlsgodt KH, Uddin LQ, Chow C, Congdon E, Jalbrzikowski M, Bearden CESeptember 2014Not Determined
23820765Create StudyParent-reported temperament trajectories among infant siblings of children with autism.Journal of autism and developmental disordersDel Rosario M, Gillespie-Lynch K, Johnson S, Sigman M, Hutman TFebruary 2014Not Relevant
23774715Create StudyThe autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism.Molecular psychiatryDi Martino A, Yan CG, Li Q, Denio E, Castellanos FX, Alaerts K, Anderson JS, Assaf M, Bookheimer SY, Dapretto M, Deen B, Delmonte S, Dinstein I, Ertl-Wagner B, Fair DA, Gallagher L, Kennedy DP, Keown CL, Keysers C, Lainhart JE, Lord C, Luna B, Menon V, Minshew NJ, Monk CS, et al.June 2014Not Relevant
23619947Create StudyAtypical gaze following in autism: a comparison of three potential mechanisms.Journal of autism and developmental disordersGillespie-Lynch K, Elias R, Escudero P, Hutman T, Johnson SPDecember 2013Not Determined
23452686Create StudyBeyond autism: a baby siblings research consortium study of high-risk children at three years of age.Journal of the American Academy of Child and Adolescent PsychiatryMessinger D, Young GS, Ozonoff S, Dobkins K, Carter A, Zwaigenbaum L, Landa RJ, Charman T, Stone WL, Constantino JN, Hutman T, Carver LJ, Bryson S, Iverson JM, Strauss MS, Rogers SJ, Sigman MMarch 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 Relevant
23298182Create StudyDecreased reelin expression and organophosphate pesticide exposure alters mouse behaviour and brain morphology.ASN neuroMullen BR, Khialeeva E, Hoffman DB, Ghiani CA, Carpenter EM2013Not Relevant
23284270Create StudyEye-tracking as a Measure of Responsiveness to Joint Attention in Infants at Risk for Autism.Infancy : the official journal of the International Society on Infant StudiesJuly 1, 2012Not Relevant
23139906Create StudyAltered integration of speech and gesture in children with autism spectrum disorders.Brain and behaviorHubbard AL, Mcnealy K, Scott-Van Zeeland AA, Callan DE, Bookheimer SY, Dapretto MSeptember 2012Not Determined
23122739Create StudySocial cognition in 22q11.2 microdeletion syndrome: relevance to psychosis?Schizophrenia researchJalbrzikowski M, Carter C, Senturk D, Chow C, Hopkins JM, Green MF, Galván A, Cannon TD, Bearden CEDecember 2012Not Relevant
22965298Create StudyPreschool based JASPER intervention in minimally verbal children with autism: pilot RCT.Journal of autism and developmental disordersGoods KS, Ishijima E, Chang YC, Kasari CMay 2013Not Determined
22962003Create StudyDeficits in mental state attributions in individuals with 22q11.2 deletion syndrome (velo-cardio-facial syndrome).Autism research : official journal of the International Society for Autism ResearchHo JS, Radoeva PD, Jalbrzikowski M, Chow C, Hopkins J, Tran WC, Mehta A, Enrique N, Gilbert C, Antshel KM, Fremont W, Kates WR, Bearden CEDecember 2012Not Determined
22958829Create StudyAutism-associated promoter variant in MET impacts functional and structural brain networks.NeuronRudie JD, Hernandez LM, Brown JA, Beck-Pancer D, Colich NL, Gorrindo P, Thompson PM, Geschwind DH, Bookheimer SY, Levitt P, Dapretto MSeptember 6, 2012Not Determined
22912605Create StudyInsights into multimodal imaging classification of ADHD.Frontiers in systems neuroscienceColby JB, Rudie JD, Brown JA, Douglas PK, Cohen MS, Shehzad ZJanuary 2012Not Relevant
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
22760337Create StudyNeural and behavioral responses during self-evaluative processes differ in youth with and without autism.Journal of autism and developmental disordersPfeifer JH, Merchant JS, Colich NL, Hernandez LM, Rudie JD, Dapretto MFebruary 2013Not Relevant
22728336Create StudyInfants' pre-empathic behaviors are associated with language skills.Infant behavior & developmentHutman T, Rozga A, DeLaurentis A, Sigman M, Dapretto MJune 2012Not Determined
22525955Create StudyLongitudinal follow-up of children with autism receiving targeted interventions on joint attention and play.Journal of the American Academy of Child and Adolescent PsychiatryKasari C, Gulsrud A, Freeman S, Paparella T, Hellemann GMay 2012Not Determined
22365836Create StudyWhat does CNTNAP2 reveal about autism spectrum disorder?Trends in molecular medicinePeñagarikano O, Geschwind DHMarch 2012Not Relevant
22318914Create StudyAn fMRI investigation of responses to peer rejection in adolescents with autism spectrum disorders.Developmental cognitive neuroscienceMasten CL, Colich NL, Rudie JD, Bookheimer SY, Eisenberger NI, Dapretto MJuly 2011Not Relevant
22187107Create StudyBrief report: longitudinal improvements in the quality of joint attention in preschool children with autism.Journal of autism and developmental disordersLawton K, Kasari CFebruary 2012Not Relevant
21996756Create StudyA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.Human geneticsCasey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, et al.April 2012Not Determined
21962519Create StudyAbsence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.CellPeñagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, Sonnenblick LI, Gruver R, Almajano J, Bragin A, Golshani P, Trachtenberg JT, Peles E, Geschwind DHSeptember 30, 2011Not Relevant
21855394Create StudyGenetics of autism spectrum disorders.Trends in cognitive sciencesGeschwind DHSeptember 2011Not Relevant
21784971Create StudyReduced functional integration and segregation of distributed neural systems underlying social and emotional information processing in autism spectrum disorders.Cerebral cortex (New York, N.Y. : 1991)Rudie JD, Shehzad Z, Hernandez LM, Colich NL, Bookheimer SY, Iacoboni M, Dapretto MMay 2012Not Relevant
21522181Create StudyGene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.European journal of human genetics : EJHGAnney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, , Buxbaum JD, Sutcliffe J, Gill M, Gallagher LBailey AJFernandez BASzatmari PScherer SWPatterson AMarshall CRPinto DVincent JBFombonne EBetancur CDelorme RLeboyer MBourgeron TMantoulan CRoge BTauber MFreitag CMPoustka FDuketis EKlauck SMPoustka APapanikolaou KTsiantis JGallagher LGill MAnney RBolshakova NBrennan SHughes GMcGrath JMerikangas AEnnis SGreen ACasey JPConroy JMRegan RShah NMaestrini EBacchelli EMinopoli FStoppioni VBattaglia AIgliozzi RParrini BTancredi ROliveira GAlmeida JDuque FVicente ACorreia CMagalhaes TRGillberg CNygren Gde Jonge MVan Engeland HVorstman JAWittemeyer KBaird GBolton PFRutter MLGreen JLamb JAPickles AParr JRCouteur ALBerney TMcConachie HWallace SCoutanche MFoley SWhite KMonaco APHolt RFarrar PPagnamenta ATMirza GKRagoussis JSousa ISykes NWing KHallmayer JCantor RMNelson SFGeschwind DHAbrahams BSVolkmar FPericak-Vance MACuccaro MLGilbert JCook EHGuter SJJacob SNurnberger JIMcDougle CJPosey DJLord CCorsello CHus VBuxbaum JDKolevzon ASoorya LParkhomenko ELeventhal BLDawson GVieland VJHakonarson HGlessner JTKim CWang KSchellenberg GDDevlin BKlei LMinshew NSutcliffe JSHaines JLLund SCThomson SYaspan BLCoon HMiller JMcMahon WMMunson JEstes AWijsman EMOctober 2011Not Determined
21519953Create StudySelective visual attention at twelve months: signs of autism in early social interactions.Journal of autism and developmental disordersHutman T, Chela MK, Gillespie-Lynch K, Sigman MApril 2012Not Relevant
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 2011Not Determined
21358544Create StudyNeurodevelopmental disorders: hope for a new beginning.Current opinion in neurologyGeschwind DHApril 2011Not Relevant
21334443Create StudyAtypical neural networks for social orienting in autism spectrum disorders.NeuroImageGreene DJ, Colich N, Iacoboni M, Zaidel E, Bookheimer SY, Dapretto MMay 1, 2011Not Relevant
21211782Create StudyProliferative neural stem cells have high endogenous ROS levels that regulate self-renewal and neurogenesis in a PI3K/Akt-dependant manner.Cell stem cellLe Belle JE, Orozco NM, Paucar AA, Saxe JP, Mottahedeh J, Pyle AD, Wu H, Kornblum HIJanuary 7, 2011Not Relevant
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
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
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 Relevant
20546081Create StudyResponse to distress in infants at risk for autism: a prospective longitudinal study.Journal of child psychology and psychiatry, and allied disciplinesHutman T, Rozga A, DeLaurentis AD, Barnwell JM, Sugar CA, Sigman MSeptember 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
20437601Create StudyReward processing in autism.Autism research : official journal of the International Society for Autism ResearchScott-Van Zeeland AA, Dapretto M, Ghahremani DG, Poldrack RA, Bookheimer SYApril 2010Not Relevant
20394055Create StudyLanguage-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds.The Journal of comparative neurologyPanaitof SC, Abrahams BS, Dong H, Geschwind DH, White SAJune 1, 2010Not Relevant
20385903Create StudyConnecting genes to brain in the autism spectrum disorders.Archives of neurologyAbrahams BS, Geschwind DHApril 2010Not Relevant
20303070Create StudyNo neural evidence of statistical learning during exposure to artificial languages in children with autism spectrum disorders.Biological psychiatryScott-Van Zeeland AA, McNealy K, Wang AT, Sigman M, Bookheimer SY, Dapretto MAugust 15, 2010Not Relevant
20302390Create StudyFactors predicting language lateralization in patients with perisylvian vascular malformations. Clinical article.Journal of neurosurgeryLee DJ, Pouratian N, Bookheimer SY, Martin NAOctober 2010Not Determined
20121438Create StudyThe reliability of neuroanatomy as a predictor of eloquence: a review.Neurosurgical focusPouratian N, Bookheimer SYFebruary 2010Not Relevant
19874940Create StudyAutism: the ups and downs of neuroligin.Biological psychiatryGeschwind DHNovember 15, 2009Not Relevant
19630577Create StudyAdvances in autism.Annual review of medicineGeschwind DH2009Not Relevant
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
19477629Create StudyGenetic advances in autism: heterogeneity and convergence on shared pathways.Current opinion in genetics & developmentBill BR, Geschwind DHJune 2009Not Relevant
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
19155745Create StudyYour brain on Google: patterns of cerebral activation during internet searching.The American journal of geriatric psychiatry : official journal of the American Association for Geriatric PsychiatrySmall GW, Moody TD, Siddarth P, Bookheimer SYFebruary 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
18999331Create StudyModeling longitudinal change in the language abilities of children with autism: parent behaviors and child characteristics as predictors of change.Developmental psychologySiller M, Sigman MNovember 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 Relevant
18984147Create StudyAutism: many genes, common pathways?CellGeschwind DHOctober 31, 2008Not Relevant
18954473Create StudyFrontal contributions to face processing differences in autism: evidence from fMRI of inverted face processing.Journal of the International Neuropsychological Society : JINSBookheimer SY, Wang AT, Scott A, Sigman M, Dapretto MNovember 2008Not Relevant
18704077Create StudyAutism: Family connections.NatureGeschwind DHAugust 14, 2008Not Relevant
18414403Create StudyAdvances in autism genetics: on the threshold of a new neurobiology.Nature reviews. GeneticsAbrahams BS, Geschwind DHMay 2008Not Relevant
17347882Create StudyOffering to share: how to put heads together in autism neuroimaging.Journal of autism and developmental disordersBelmonte MK, Mazziotta JC, Minshew NJ, Evans AC, Courchesne E, Dager SR, Bookheimer SY, Aylward EH, Amaral DG, Cantor RM, Chugani DC, Dale AM, Davatzikos C, Gerig G, Herbert MR, Lainhart JE, Murphy DG, Piven J, Reiss AL, Schultz RT, Zeffiro TA, Levi-Pearl S, Lajonchere C, Colamarino SAJanuary 2008Not Determined
17322880Create StudyMapping autism risk loci using genetic linkage and chromosomal rearrangements.Nature geneticsAutism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, et al.March 2007Not Determined

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
28700096Create StudyPeak alpha frequency is a neural marker of cognitive function across the autism spectrum.The European journal of neuroscienceDickinson A, Distefano C, Senturk D, Spurling Jeste SJuly 12, 2017
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Mullen Scales of Early Learning info iconApproved
Imaging (Structural, fMRI, DTI, PET, microscopy) info iconApproved
genomics/omics info iconApproved
Medical History info iconApproved
Vineland (Parent and Caregiver) info iconApproved
Wechsler Intelligence Scale for Children info iconApproved
Clinical Evaluation of Language Fundamentals (CELF) info iconApproved
Physical Exam info iconApproved
Behavior Rating Inventory of Executive Function (BRIEF) info iconApproved
ADI-R info iconApproved
Stanford Binet info iconApproved
Wechsler Preschool Primary Scale Intelligence (WPPSI) info iconApproved
ADOS info iconApproved
Intervention History info iconApproved
Reynell Developmental Language Scales info iconApproved
Simpson-Angus Rating Scale (SAS) info iconApproved
Childrens Yale-Brown OC Scale (CY-BOCS) info iconApproved
Parenting Stress Index (PSI) info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
Wechsler Abbreviated Scale of Intelligence (WASI) info iconApproved
Genetic Test info iconApproved
Interpersonal Reactivity Index info iconApproved
Social Communication Questionnaire (SCQ) info iconApproved
Demographics info iconApproved
Abnormal Involuntary Movement Scale (AIMS) info iconApproved
Clinical Global Impression (CGI) info iconApproved
Early Social Communication Scales (ESCS) info iconApproved
Structured Play Assessment info iconApproved
MacArthur Bates Communicative Development Inventory info iconApproved
Peabody Picture Vocabulary Test, Fourth Edition info iconApproved
Wechsler Adult Intelligence Scale info iconApproved
Repetitive Behavior Scale - Revised (RBS-R) info iconApproved
Test of Pragmatic Language-2 (TOPL-2) info iconApproved
Child and Adolescent Symptom Inventory (CASI) info iconApproved
Parenting Daily Hassles info iconApproved
Sensory Profile info iconApproved
ABC Community info iconApproved
Screen for Childhood Anxiety Related Emotional Disorders (SCARED) info iconApproved
DAS-II: Differential Ability Scales info iconApproved
Interpersonal Competence Scale (ICS) info iconApproved
Child Behavior Checklist (CBCL) info iconApproved
M-CHAT info iconApproved
EEG info iconApproved
Research Subject and Pedigree info iconApproved
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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 NameAbstractCollection/Study SubjectsData UsageState
The evolution and population diversity of human-specific segmental duplicationsSegmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (n=80 genes/33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed “core duplicons”, and evolved primarily in an interspersed inverted orientation. In addition to Homo sapiens-specific gene expansions (e.g., TCAF1/2), we highlight ten gene families (e.g., ARHGAP11B and SRGAP2C) where copy number never returns to the ancestral state, there is evidence of mRNA splicing, and no common gene-disruptive mutations are observed in the general population. Such duplicates are candidates for the evolution of human-specific adaptive traits. 1/6360Primary AnalysisShared
Unravelling the Collective Diagnostic Power Behind the Features in the Autism Diagnostic Observation ScheduleBackground: Autism is a group of heterogeneous disorders defined by deficits in social interaction and communication. Typically, diagnosis depends on the results of a behavioural examination called the Autism Diagnostic Observation Schedule (ADOS). Unfortunately, administration of the ADOS exam is time-consuming and requires a significant amount of expert intervention, leading to delays in diagnosis and access to early intervention programs. The diagnostic power of each feature in the ADOS exam is currently unknown. Our hypothesis is that certain features could be removed from the exam without a significant reduction in diagnostic accuracy, sensitivity or specificity. Objective: Determine the smallest subset of predictive features in ADOS module-1 (an exam variant for patients with minimal verbal skills). Methodology: ADOS module-1 datasets were acquired from the Autism Genetic Resource Exchange and the National Database for Autism Research. The datasets contained 2572 samples with the following labels: autism (1763), autism spectrum (513), and non-autism (296). The datasets were used as input to 4 different cost-sensitive classifiers in Weka (functional trees, LADTree, logistic model trees, and PART). For each classifier, a 10-fold cross validation was preformed and the number of predictive features, accuracy, sensitivity, and specificity was recorded. Results & Conclusion: Each classifier resulted in a reduction of the number of ADOS features required for autism diagnosis. The LADtree classifier was able to obtain the largest reduction, utilizing only 10 of 29 ADOS module-1 features (96.8% accuracy, 96.9% sensitivity, and 95.9% specificity). Overall, these results are a step towards a more efficient behavioural exam for autism diagnosis. 3/2172Secondary AnalysisShared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using C-PAC pipeline and ANTsAn automated pipeline was developed to reference Neuroimages hosted by the National Database for Autism Research (NDAR) and derive volumes for distinct brain structures using Advanced Normalization Tools (ANTs) and the Configurable-Pipeline for the Analysis of Connectomes (C-PAC) platform. This pipeline utilized the ANTs cortical thickness methodology discuessed in "Large-Scale Evaluation of ANTs and Freesurfer Cortical Tchickness Measurements" [http://www.ncbi.nlm.nih.gov/pubmed/24879923] to extract a cortical thickness volume from T1-weighted anatomical MRI data gathered from the NDAR database. This volume was then registered to an stereotaxic-space anatomical template (OASIS-30 Atropos Template) which was acquired from the Mindboggle Project webpage [http://mindboggle.info/data.html]. After registration, the mean cortical thickness was calculated at 31 ROIs on each hemisphere of the cortex and using the Desikan-Killiany-Tourville (DKT-31) cortical labelling protocol [http://mindboggle.info/faq/labels.html] over the OASIS-30 template. **NOTE: This study is ongoing; additional data my be available in the future.** As a result, each subject that was processed has a cortical thickness volume image and a text file with the mean thickness ROIs (in mm) stored in Amazon Web Services (AWS) Simple Storage Service (S3). Additionally, these results were tabulated in an AWS-hosted database (through NDAR) to enable simple, efficient querying and data access. All of the code used to perform this analysis is publicly available on Github [https://github.com/FCP-INDI/ndar-dev]. Additionally, as a computing platform, we developed an Amazon Machine Image (AMI) that comes fully equipped to run this pipeline on any dataset. Using AWS Elastic Cloud Computing (EC2), users can launch our publicly available AMI ("C-PAC with benchmark", AMI ID: "ami-fee34296", N. Virginia region) and run the ANTs cortical thickness pipeline. The AMI is fully compatible with Sun Grid Engine as well; this enables users to perform many pipeline runs in parallel over a cluster-computing framework.126/1540Secondary AnalysisShared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using LONI WorkflowsLONI utilized de-identified data from NDAR's cloud and a LONI Pipeline (pipeline.loni.usc.edu) processing workflow to perform a secondary structural MRI examination. The workflow used in this study pulls data from and provided by NDAR to an instance on the LONI compute cluster, aligns data to a standard orientation using FSLreorient2stsd, and undergoes further image processing to eventually identify, extract, and analyze cortical and sub-cortical structures in different MRI brain volumes. Two methods were used for this image processing: the first uses Freesurfer Recon_All to extract brain cortical parcellation and surfaces, align the data to an atlas, and identify, and analyze regions of interest; the second uses FSL to extract the brain (BET), align the data to an atlas, and extract ROIs including sub-cortical regions using FSL FIRST. The second method also uses Freesurfer (mri_segstats) to perform statistical analysis of these ROIs. Lastly, the LONI Pipeline workflow updates and returns the data processed and extracted by Freesurfer and FSL as a miNDAR back to NDAR's cloud storage instance. These results can be used to assess quality control or be used to perform post-hoc comparisons of cortical and sub-cortical brain architecture between subject types. See also, Torgerson et al. (2015) Brain Imaging and Behavior, for additional details on using LONI Pipeline to access and process NDAR data.125/780Secondary AnalysisShared
Derivation of Quality Measures for Structural Images by Neuroimaging PipelinesUsing the National Database for Autism Research cloud platform, MRI data were analyzed using neuroimaging pipelines that included packages available as part of the Neuroimaging Informatics Tools and Resources Clearinghouse (NITRC) Computational Environment to derive standardized measures of MR image quality. Structural QA was performed according to Haselgrove, et al (http://journal.frontiersin.org/Journal/10.3389/fninf.2014.00052/abstract) to provide values for Signal to Noise (SNR) and Contrast to Noise (CNR) Ratios that can be compared between subjects within NDAR and between other public data releases.127/425Secondary AnalysisShared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using NITRC-CEA draft publication is in progress. GitHub repository with code for working with NDAR Data is available here: https://github.com/chaselgrove/ndar **Note this study is ongoing; additional may be added.**126/356Secondary AnalysisShared
Derivation of Quality Measures for Time-Series Images by Neuroimaging PipelinesUsing the National Database for Autism Research cloud platform, MRI data were analyzed using neuroimaging pipelines that included packages available as part of the Neuroimaging Informatics Tools and Resources Clearinghouse (NITRC) Computational Environment to derive standardized measures of MR image quality. Time series QA was performed according to Friedman, et al. (http://www.ncbi.nlm.nih.gov/pubmed/16952468) providing values for Signal to Noise Ratio that can be compared to other subjects.107/356Secondary AnalysisShared
* Data not on individual level