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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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SelectExperiment IdExperiment NameExperiment Type
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Created On
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
894Dot ProbeEye Tracking03/07/2018
893Startle Habituation and Shock Sensitivity EvaluationEEG03/03/2018
892NPU EEG Task EEG03/03/2018
891Duke ACE ETEye Tracking03/02/2018
888Emotion 1.1 Determining context effects during potential threatfMRI02/26/2018
884Plasma metabolic profileOmics02/05/2018
878Social Challenge AssessmentEye Tracking01/26/2018
876Mixed Anti and Pro (vgs) saccade mixed blocked (EyeTracking)Eye Tracking01/22/2018
875Attention modulation taskEye Tracking01/17/2018
874ruthldopa resting 17 and 18fMRI01/16/2018
873ruthldopa resting 15 and 16fMRI01/16/2018
872ruthldopa resting 13 and 14fMRI01/16/2018
871ruthldopa resting 11 and 12fMRI01/16/2018
870Resting State fMRIfMRI01/12/2018
867Velten Mood Induction State-ItemfMRI01/12/2018
866Emotional Hemifield Task (EHT)EEG01/12/2018
865Genome EditingOmics01/12/2018
855Regulating Emotional Responses to Visual Images Across the Affective Instability SpectrumfMRI01/12/2018
853R61 Ezogabine Resting State FMRIfMRI01/11/2018
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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Autism genetics: homozygosity mapping and functional validation (Years 1-5)
Christopher A. Walsh 
Although high throughput sequencing (HTS) methods allow systematic analysis of genetic variation across the entire exome, or even the entire genome, the interpretation of this data faces analytical challenges that have by no means been solved. The use of consanguineous pedigrees, in which parents share ancestry, allows the identification of candidate genes that can then be analyzed more broadly in nonconsanguineous families. Consanguineous families 1] reduce the heterogeneity of ASD, 2] simplify HTS analysis and validation, and 3] provide genetic linkage evidence to support the validity of specific mutations in a single family. Preliminary data confirms that HTS in such pedigrees can efficiently identify, in an unbiased fashion, recessive genetic causes of ASD relevant to both consanguineous and nonconsanguineous cohorts of patients. This study will seek to enroll consanguineous families diagnosed with ASD, perform homozygosity mapping to locate regions of the genome likely to harbor the mutation that causes their ASD, and perform whole genome sequencing (WGS) on the affected individuals to identify candidate variants. Further, linkage and whole exome sequencing data that was generated on consanguineous families from previous studies will continue to be analyzed. This study will expand on the previous work by 1] Generating WGS data on normal controls to identify common alleles within Middle Eastern populations thus allowing swifter, more sensitive and ultimately cheaper analysis in this and many other Middle Eastern WGS studies; 2] Generating relatively high throughput methods of functionally validating strong candidate genes discovered through WGS using yeast models, transformed somatic cell lines, and other model systems; and 3] Using RNAi to generate mouse models of candidate genes discovered in this study, and an ongoing neuronal activity-dependent gene study, to examine the effects of removing the genes on dendrite and dendritic spine morphology and synaptic activity. Additionally, we performed deep sequencing of 78 known autism spectrum disorder (ASD) genes on 55 postmortem brains from individuals diagnosed with ASD. The data was analyzed for somatic mutations that contribute to ASD risk.
Funding Completed
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NIH - Extramural None

R01MH083565-01 Finding Autism Genes by Genomic Copy Number Analysis 09/28/2007 04/30/2012 1550 823 BOSTON CHILDRENS HOSPITAL $2,849,882.00

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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

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Shared Data

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

Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 41
Autism Diagnostic Observation Schedule (ADOS) - Module 1 (2007) Clinical Assessments 7
Autism Diagnostic Observation Schedule (ADOS) - Module 2 (2007) Clinical Assessments 6
Autism Diagnostic Observation Schedule (ADOS) - Module 4 Clinical Assessments 1
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 11
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 7
Autism Diagnostic Observation Schedule (ADOS)- Module 3 Clinical Assessments 14
Autism Diagnostic Observation Schedule (ADOS)- Module 3 (2007) Clinical Assessments 3
Broad Autism Phenotype Questionnaire (BAPQ) Clinical Assessments 46
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 9
DAS-II:Differential Ability Scales 2nd Ed. Early Years Clinical Assessments 24
Genomics Sample Genomics 210
Genomics Subject Genomics 210
Neurodevelopmental Phenotype Clinical Assessments 52
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 25
Repetitive Behavior Scale - Revised (RBS-R) Clinical Assessments 42
Social Responsiveness Scale (SRS) Clinical Assessments 38

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
28714951Create StudyRates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.Nature neuroscienceLim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, et al.September 2017Not Determined
28254648Create StudyIdentification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.European journal of medical geneticsLakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran TMay 2017Not Determined
28250456Create StudyBiallelic mutations in human DCC cause developmental split-brain syndrome.Nature geneticsJamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, et al.February 2017Not 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
26826102Create StudyCc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.Cerebral cortex (New York, N.Y. : 1991)Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MCJanuary 29, 2016Not Relevant
26637798Create StudyTargeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.NeuronD'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AT, Sestan N, Walsh CADecember 2, 2015Not Determined
26022163Create StudyGenomic variants and variations in malformations of cortical development.Pediatric clinics of North AmericaJamuar SS, Walsh CAJune 2015Not Relevant
25599672Create StudyMammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.Annals of neurologyD'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri AApril 2015Not Determined
25534755Create StudyA genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Biological psychiatryChaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH, Devlin BMay 1, 2015Not Determined
25363760Create StudySynaptic, transcriptional and chromatin genes disrupted in autism.NatureDe Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, et al.November 13, 2014Not Relevant
25184530Create StudyThe diverse genetic landscape of neurodevelopmental disorders.Annual review of genomics and human geneticsHu WF, Chahrour MH, Walsh CA2014Not Relevant
25151423Create StudyExecutive function in probands with autism with average IQ and their unaffected first-degree relatives.Journal of the American Academy of Child and Adolescent PsychiatryMcLean RL, Johnson Harrison A, Zimak E, Joseph RM, Morrow EMSeptember 2014Not Determined
25066123Create StudyCC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.Cell reportsManzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CAAugust 7, 2014Not Determined
24501276Create StudyMETTL23, a transcriptional partner of GABPA, is essential for human cognition.Human molecular geneticsReiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GHJuly 1, 2014Not Determined
24038210Create StudyNew innovations: therapeutic opportunities for intellectual disabilities.Annals of neurologyPicker JD, Walsh CASeptember 2013Not Relevant
23828942Create StudySomatic mutation, genomic variation, and neurological disease.Science (New York, N.Y.)Poduri A, Evrony GD, Cai X, Walsh CAJuly 5, 2013Not Relevant
23352163Study (294)Using whole-exome sequencing to identify inherited causes of autism.NeuronYu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, et al.January 23, 2013Relevant
23065101Create StudyBrief report: prevalence of attention deficit/hyperactivity disorder among individuals with an autism spectrum disorder.Journal of autism and developmental disordersHanson E, Cerban BM, Slater CM, Caccamo LM, Bacic J, Chan EJune 2013Not Determined
22511880Study (293)Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.PLoS geneticsChahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, , Greenberg ME, Gabriel SB, Walsh CA2012Relevant
22419660Create StudyExpanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.American journal of medical genetics. Part AMarangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri GApril 2012Not Determined
21694630Create StudyA pilot study to improve venipuncture compliance in children and adolescents with autism spectrum disorders.Journal of developmental and behavioral pediatrics : JDBPDavit CJ, Hundley RJ, Bacic JD, Hanson EMSeptember 2011Not Determined
20613623Create StudyCognitive and behavioral characterization of 16p11.2 deletion syndrome.Journal of developmental and behavioral pediatrics : JDBPHanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT, Ardern-Holmes SBrewster SBridgemohan CCondie LCorzo DDavit CDoerr JGreenberg KHawash KHisama FHoffman JDIrons MJohnston ALeClair ELevy HLLibenson MLipton JLloyd JLowe KMcAllister TPeters HPicker JRaffalli PCRivkin MSchonwald AShahab MSobeih MMSoul JStoler JMTakeoka MTam CTan WHTsai PUrion DOctober 2010Not Determined
20468056Create StudyDeletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsChing MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, et al.June 5, 2010Not Determined
20437587Create StudyDevelopmental and degenerative features in a complicated spastic paraplegia.Annals of neurologyManzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CAApril 2010Not Determined
19812673Create StudyA genome-wide linkage and association scan reveals novel loci for autism.NatureWeiss LA, Arking DE, , Daly MJ, Chakravarti AArking DEBrune CWWest KO'Connor AHilton GTomlinson RLWest ABCook EHChakravarti AWeiss LAGreen TChang SCGabriel SGates CHanson EMKirby AKorn JKuruvilla FMcCarroll SMorrow EMNeale BPurcell SSasanfar RSougnez CStevens CAltshuler DGusella JSantangelo SLSklar PTanzi RDaly MJAnney RBailey AJBaird GBattaglia ABerney TBetancur CBölte SBolton PFBrian JBryson SEBuxbaum JDCabrito ICai GCantor RMCook EHCoon HConroy JCorreia CCorsello CCrawford ELCuccaro MLDawson Gde Jonge MDevlin BDuketis EEnnis SEstes AFarrar PFombonne EFreitag CMGallagher LGeschwind DHGilbert JGill MGillberg CGoldberg JGreen AGreen JGuter SJHaines JLHallmayer JFHus VKlauck SMKorvatska OLamb JALaskawiec MLeboyer MCouteur ALLeventhal BLLiu XQLord CLotspeich LJMaestrini EMagalhaes TMahoney WMantoulan CMcConachie HMcDougle CJMcMahon WMMarshall CRMiller JMinshew NJMonaco APMunson JNurnberger JIOliveira GPagnamenta APapanikolaou KParr JRPaterson ADPericak-Vance MAPickles APinto DPiven JPosey DJPoustka APoustka FRegan RReichert JRenshaw KRoberts WRoge BRutter MLSalt JSchellenberg GDScherer SWSheffield VSutcliffe JSSzatmari PTansey KThompson APTsiantis JVan Engeland HVicente AMVieland VJVolkmar FWallace SWassink THWijsman EMWing KWittemeyer KYaspan BLZwaigenbaum LMorrow EMYoo SYHill RSMukaddes NMBalkhy SGascon GAl-Saad SHashmi AWare JJoseph RMLeClair EPartlow JNBarry BWalsh CAPauls DMoilanen IEbeling HMattila MLKuusikko SJussila KIgnatius JSasanfar RTolouei AGhadami MRostami MHosseinipour AValujerdi MSantangelo SLAndresen KWinkloski BHaddad SKunkel LKohane ZTran TKong SWO'Neil SBHanson EMHundley RHolm IPeters HBaroni ECangialose AJackson LAlbers LBecker RBridgemohan CFriedman SMunir KNazir RPalfrey JSchonwald ASimmons ERappaport LAGauthier JMottron LJoober RFombonne ERouleau GRehnstrom Kvon Wendt LPeltonen LOctober 8, 2009Not Determined
18984148Create StudyAutism and brain development.CellWalsh CA, Morrow EM, Rubenstein JLOctober 31, 2008Not Relevant
18621663Create StudyIdentifying autism loci and genes by tracing recent shared ancestry.Science (New York, N.Y.)Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CAJuly 11, 2008Not Determined

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
No records found.
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
genomics/omics info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
Broad Autism Phenotype Questionnaire (BAPQ) info iconApproved
Peabody Picture Vocabulary Test, Fourth Edition info iconApproved
Medical History info iconApproved
ADOS info iconApproved
DAS-II: Differential Ability Scales info iconApproved
ADI-R info iconApproved
Research Subject and Pedigree info iconApproved
Repetitive Behavior Scale - Revised (RBS-R) 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 NameAbstractCollection/Study SubjectsData UsageState
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. 10/2172Secondary AnalysisShared
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic MechanismsSingle nucleotide variants (SNVs), particularly loss-of-function mutations, are significant contributors to autism spectrum disorder (ASD) risk. Here we report the first systematic deep sequencing study of 55 postmortem ASD brains for SNVs in 78 known ASD candidate genes. Remarkably, even without parental samples, we find more ASD brains with mutations that are protein-altering (26/55 cases versus 12/50 controls, p = 0.015), deleterious (16/55 versus 5/50, p = 0.016), or loss-of-function (6/55 versus 0/50, p = 0.028) compared to controls, with recurrent deleterious mutations in ARID1B, SCN1A, SCN2A, and SETD2, suggesting these mutations contribute to ASD risk. In several cases, the identified mutations and medical records suggest syndromic ASD diagnoses. Two ASD and one Fragile X premutation case showed deleterious somatic mutations, providing evidence that somatic mutations occur in ASD cases, and supporting a model in which a combination of germline and/or somatic mutations may contribute to ASD risk on a case-by-case basis.119/119Primary AnalysisShared
* Data not on individual level