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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Multimodal Developmental Neurogenetics of Females with ASD
Kevin Pelphrey 
The term autism-spectrum disorders (ASD) exemplifies the tremendous heterogeneity in this developmental disorder at both the phenotypic and underlying genetic levels. It has repeatedly been observed that ASDdisproportionately affects males relative to females. Although many hypotheses attempt to explain this bias, no clear answers have emerged because of inconsistent and incomplete phenotyping and small sample sizes. We propose to leverage the interdisciplinary strengths and recruiting power of our network to study sexspecific differences by deep phenotyping and genotyping of ASD participants. We will recruit a sex-balanced cohort of ASD (N=125) and matched typically developing (TD) comparison participants (N=125), as well as a set of unaffected siblings. We will quantitatively phenotype multiple behavioral domains and measure several key ASD-related neural systems at the level of brain structure (sMRI), connectivity (DTI and fMRI), function (task based and resting state fMRI), and temporaldynamics (EEG). Additionally, we will measure copy number variation (CNV) and single nucleotide variation (SNV) for these participants and their parents, allowing us to test sex- and circuit-specific genotype-phenotype hypotheses for five candidate ASD genes and ultimately extend our methods to a search for novel sex-specific and high-risk genes. Our Specific Aims are to: 1) Identify sex differences in brain structure, function,connectivity, and temporal dynamics in ASD. 2) Characterize associations between DNA sequence and copy number variants and brain structure and function in ASD and TD versus ASD and TD. 3) Relate braindifferences in structure, function, and temporal dynamics to heterogeneity in ASD behavior and genetics. We hypothesize that advanced network methods can aid in understanding the tremendous heterogeneity in ASD by connecting different levels of phenotype with genetic variation. We will therefore combine multiple levels ofbiology and endophenotypes SNVs, CNVs, behavioral metrics, and resting state imaging and electrophysiology measures into one framework across affected and unaffected siblings and controls usingan integrated network analysis, iWGCNA.
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NIH - Extramural None

R01MH100028-01 Multimodal Developmental Neurogenetics of Females with ASD 09/04/2012 06/30/2017 Not Reported 525 GEORGE WASHINGTON UNIVERSITY $13,756,358.00

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
484GENDAAR Word Segmentation ERP Test Phase06/20/2016ApprovedEEG
196GENDAAR EEG Resting12/05/2014ApprovedEEG
366Faces fMRI08/06/2015ApprovedfMRI
367Language fMRI08/06/2015ApprovedfMRI
368Resting State fMRI08/06/2015ApprovedfMRI
369Social Reward fMRI08/06/2015ApprovedfMRI
364Biopoint fMRI08/04/2015ApprovedfMRI
195GENDAAR EEG Biomotion12/05/2014ApprovedEEG
485GENDAAR Word Segmentation EEG Resting, Exposure, and Test Phase06/20/2016ApprovedEEG

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.

ACE Family Medical History Clinical Assessments 517
ACE Subject Medical History Clinical Assessments 184
Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 186
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 172
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4 Clinical Assessments 35
BRIEF-Parent Clinical Assessments 351
Broad Autism Phenotype Questionnaire (BAPQ) Clinical Assessments 493
Child Behavior Checklist (CBCL) 6-18 Clinical Assessments 353
Child/Adolescent Symptom Inventory Clinical Assessments 321
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 412
Demographics Clinical Assessments 346
Genomics Genetic Test Genomics 128
Genomics Sample Genomics 48
Genomics Subject Genomics 48
Image Imaging 319
Pubertal Development Scale Clinical Assessments 356
Research Subject Clinical Assessments 953
Sensory Profile Adult Clinical Assessments 221
Sensory Profile Caregiver Clinical Assessments 116
Social Responsiveness Scale (SRS) - Adult/Self Version Clinical Assessments 13
Vineland-II - Survey 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 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
28101064Create StudyResting-State Functional Connectivity in Autism Spectrum Disorders: A Review.Frontiers in psychiatryHull JV, Jacokes ZJ, Torgerson CM, Irimia A, Van Horn JDJanuary 2016Not Relevant
27845779Create StudyBrain responses to biological motion predict treatment outcome in young children with autism.Translational psychiatryYang D, Pelphrey KA, Sukhodolsky DG, Crowley MJ, Dayan E, Dvornek NC, Venkataraman A, Duncan J, Staib L, Ventola PNovember 2016Not Determined
27532879Create StudyPivotal response treatment prompts a functional rewiring of the brain among individuals with autism spectrum disorder.NeuroreportVenkataraman A, Yang DY, Dvornek N, Staib LH, Duncan JS, Pelphrey KA, Ventola PSeptember 2016Not Determined
27230762Create StudyBrief Report: Reduced Restricted and Repetitive Behaviors after Pivotal Response Treatment.Journal of autism and developmental disordersVentola PE, Yang D, Abdullahi SM, Paisley CA, Braconnier ML, Sukhodolsky DGAugust 2016Not Determined
26886246Create StudyFace perception and learning in autism spectrum disorders.Quarterly journal of experimental psychology (2006)Webb SJ, Neuhaus E, Faja SMarch 16, 2016Not Relevant
26781567Create StudyDevelopmental neurogenetics and multimodal neuroimaging of sex differences in autism.Brain imaging and behaviorChen C, Van Horn JD, January 19, 2016Not Relevant
26743637Create StudyWanting it Too Much: An Inverse Relation Between Social Motivation and Facial Emotion Recognition in Autism Spectrum Disorder.Child psychiatry and human developmentGarman HD, Spaulding CJ, Webb SJ, Mikami AY, Morris JP, Lerner MDJanuary 7, 2016Not Determined
26311606Create StudyConnected brains and minds--The UMCD repository for brain connectivity matrices.NeuroImageBrown JA, Van Horn JDJanuary 1, 2016Not Relevant
26106561Create StudyAn unbiased Bayesian approach to functional connectomics implicates social-communication networks in autism.NeuroImage. ClinicalVenkataraman A, Duncan JS, Yang DY, Pelphrey KA2015Not Determined
25891009Create StudyGene hunting in autism spectrum disorder: on the path to precision medicine.The Lancet. NeurologyGeschwind DH, State MWNovember 2015Not Determined
25831060Create StudyThe promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders.Omics : a journal of integrative biologyHigdon R, Earl RK, Stanberry L, Hudac CM, Montague E, Stewart E, Janko I, Choiniere J, Broomall W, Kolker N, Bernier RA, Kolker EApril 2015Not Determined
25752243Create StudyThe autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.Nature communicationsCotney J, Muhle RA, Sanders SJ, Liu L, Willsey AJ, Niu W, Liu W, Klei L, Lei J, Yin J, Reilly SK, Tebbenkamp AT, Bichsel C, Pletikos M, Sestan N, Roeder K, State MW, Devlin B, Noonan JP2015Not Determined
25724689Create StudyNeuroimaging of the developing brain.Brain imaging and behaviorVan Horn JD, Pelphrey KAMarch 2015Not Relevant
25666423Create StudyInteracting with the National Database for Autism Research (NDAR) via the LONI Pipeline workflow environment.Brain imaging and behaviorTorgerson, Carinna M; Quinn, Catherine; Dinov, Ivo; Liu, Zhizhong; Petrosyan, Petros; Pelphrey, Kevin; Haselgrove, Christian; Kennedy, David N; Toga, Arthur W; Van Horn, John DarrellMarch 2015Not Determined
25660957Create StudyAn integrative neural model of social perception, action observation, and theory of mind.Neuroscience and biobehavioral reviewsYang DY, Rosenblau G, Keifer C, Pelphrey KAApril 2015Not Relevant
25198094Create StudyNeural systems for cognitive reappraisal in children and adolescents with autism spectrum disorder.Developmental cognitive neurosciencePitskel NB, Bolling DZ, Kaiser MD, Pelphrey KA, Crowley MJOctober 2014Not Determined
24981794Create StudyNeural Correlates of Animacy Attribution Include Neocerebellum in Healthy Adults.Cerebral cortex (New York, N.Y. : 1991)Jack A, Pelphrey KANovember 2015Not Determined
24683058Create StudyASD: Psychopharmacologic Treatments and Neurophysiologic Underpinnings.Current topics in behavioral neurosciencesKodish I, Rockhill CM, Webb SJ2014Not Determined
24481546Create StudyBuilding a social neuroscience of autism spectrum disorder.Current topics in behavioral neurosciencesPelphrey KA, Yang DY, McPartland JC2014Not Determined
24441420Create StudyUpdate on diagnostic classification in autism.Current opinion in psychiatryKing BH, Navot N, Bernier R, Webb SJMarch 2014Not Determined
24297883Create StudyOxytocin enhances brain function in children with autism.Proceedings of the National Academy of Sciences of the United States of AmericaGordon I, Vander Wyk BC, Bennett RH, Cordeaux C, Lucas MV, Eilbott JA, Zagoory-Sharon O, Leckman JF, Feldman R, Pelphrey KADecember 24, 2013Not Determined
24293083Create StudySex differences in social perception in children with ASD.Journal of autism and developmental disordersCoffman MC, Anderson LC, Naples AJ, McPartland JCFebruary 2015Not Determined
24203652Create StudyGraphical neuroimaging informatics: application to Alzheimer's disease.Brain imaging and behaviorVan Horn JD, Bowman I, Joshi SH, Greer VJune 2014Not Determined
22677931Create StudyRevisiting regression in autism: Heller's dementia infantilis. Includes a translation of Über Dementia Infantilis.Journal of autism and developmental disordersWestphal A, Schelinski S, Volkmar F, Pelphrey KFebruary 2013Not Determined

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
No records found.
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Demographics info iconApproved
Behavior Rating Inventory of Executive Function (BRIEF) info iconApproved
DAS-II: Differential Ability Scales info iconApproved
ADOS info iconApproved
Child and Adolescent Symptom Inventory (CASI) info iconApproved
Child Behavior Checklist (CBCL) info iconApproved
Broad Autism Phenotype Questionnaire (BAPQ) info iconApproved
genomics/omics info iconApproved
Imaging (Structural, fMRI, DTI, PET, microscopy) info iconApproved
Research Subject and Pedigree info iconApproved
Medical History info iconApproved
Sensory Profile info iconApproved
Vineland (Parent and Caregiver) info iconApproved
Pubertal Development Scale (PDS) info iconApproved
ADI-R info iconApproved
Genetic Test info iconApproved
EEG info iconApproved
Clinical Evaluation of Language Fundamentals (CELF) info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
Repetitive Behavior Scale - Revised (RBS-R) info iconApproved
Social Communication Questionnaire (SCQ) info iconApproved
Structure not yet defined

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

Associated Studies

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

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. 1 / 5288 Primary Analysis Shared
* Data not on individual level