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

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

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SelectExperiment IdExperiment NameExperiment Type
  • Select One
  • EEG
  • EGG
  • Eye Tracking
  • Omics
  • fMRI
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
900DTIfMRI04/11/2018
899Investigating a Neurobehavioral Mechanism of Paranoia - Resting State ScansfMRI04/06/2018
898FAST-POMAfMRI04/03/2018
897parvizi_eeg_109EEG03/19/2018
896parvizi_eeg_107EEG03/19/2018
895parvizi_eeg_106EEG03/19/2018
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
886RestfMRI02/14/2018
885SARTfMRI02/14/2018
884Plasma metabolic profileOmics02/05/2018
878Social Challenge AssessmentEye Tracking01/26/2018
877PRV-005-EEGEEG01/22/2018
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
869cyberballfMRI01/12/2018
868MDD_PilotfMRI01/12/2018
867Velten Mood Induction State-ItemfMRI01/12/2018
866Emotional Hemifield Task (EHT)EEG01/12/2018
865Genome EditingOmics01/12/2018
864parvizi_eeg_118EEG01/12/2018
863parvizi_eeg_117EEG01/12/2018
862parvizi_eeg_116EEG01/12/2018
861parvizi_eeg_115EEG01/12/2018
860parvizi_eeg_114EEG01/12/2018
859parvizi_eeg_113EEG01/12/2018
858PRV-003-EEGEEG01/12/2018
857PRV-004-EEGEEG01/12/2018
856PRV-007-EEGEEG01/12/2018
855Regulating Emotional Responses to Visual Images Across the Affective Instability SpectrumfMRI01/12/2018
854PRV-002-EEGEEG01/12/2018
853R61 Ezogabine Resting State FMRIfMRI01/11/2018
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Shared

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

General

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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
Sporadic Mutations and Autism Spectrum Disorders
Evan E Eichler 
Sporadic Mutations and Autism Spectrum Disorders
NDAR
Funding Completed
Shared
$2,654,498.00
20,181
108
110
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NIH - Extramural None


R01MH101221-01 Sporadic Mutations and Autism Spectrum Disorders 08/01/2013 03/31/2017 108 110 UNIVERSITY OF WASHINGTON $2,654,498.00

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
586MIP sequencing01/09/2017ApprovedOmics

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.

Aberrant Behavior Checklist (ABC) - Community Clinical Assessments 86
Adult Behavior Check List Clinical Assessments 7
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1 Clinical Assessments 35
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2 Clinical Assessments 15
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 28
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4 Clinical Assessments 4
Child Behavior Checklist (CBCL) 1-5 Clinical Assessments 19
Child Behavior Checklist (CBCL) 6-18 Clinical Assessments 63
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 38
DAS-II:Differential Ability Scales 2nd Ed. Early Years Clinical Assessments 36
Delis-Kaplan Executive Function System Clinical Assessments 37
Edinburgh Handedness Inventory Clinical Assessments 86
Expressive Vocabulary Test Clinical Assessments 57
Genomics Sample Genomics 5
Genomics Subject Genomics 20085
Height and Weight Clinical Assessments 77
Movement Assessment Battery for Children - 2 Clinical Assessments 48
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 68
Purdue Pegboard Clinical Assessments 59
Research Subject Clinical Assessments 91
SRS-2. Adult, Preschool and School Age Clinical Assessments 88
Social Communication Questionnaire (SCQ) - Lifetime Clinical Assessments 84
WASI-2 Clinical Assessments 7

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
29179772Create StudyRecurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Genome medicineWilfert AB, Sulovari A, Turner TN, Coe BP, Eichler EENovember 2017Not Determined
29100089Create StudyDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.American journal of human geneticsKüry S, Van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, Van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, et al.November 2017Not Determined
29090079Create StudyProspective investigation of FOXP1 syndrome.Molecular autismSiper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JDJanuary 2017Not Relevant
29034068Create StudyClinical phenotype of ASD-associated DYRK1A haploinsufficiency.Molecular autismEarl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RAJanuary 2017Not Determined
28965761Create StudyGenomic Patterns of De Novo Mutation in Simplex Autism.CellTurner TN, Coe BP, Dickel DE, Hoekzema K, Nelson BJ, Zody MC, Kronenberg ZN, Hormozdiari F, Raja A, Pennacchio LA, Darnell RB, Eichler EEOctober 2017Not Relevant
28921525Create StudyComorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk.Journal of child psychology and psychiatry, and allied disciplinesArnett AB, Cairney BE, Wallace AS, Gerdts J, Turner TN, Eichler EE, Bernier RASeptember 2017Not Determined
28628100Create StudyHotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Nature neuroscienceGeisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, et al.June 2017Relevant
28580430Create StudyThe evolution and population diversity of human-specific segmental duplications.Nature ecology & evolutionDennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, Stessman HAF, Nuttle X, Hoekzema K, Lindsay-Graves TA, Wilson RK, Eichler EEJanuary 2017Not Determined
28559932Create StudyExploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.Journal of neurodevelopmental disordersHudac CM, Stessman HAF, Deschamps TD, Kresse A, Faja S, Neuhaus E, Webb SJ, Eichler EE, Bernier RAJanuary 2017Not Determined
28332277Create StudySequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsKim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP, March 2017Relevant
28191889Study (425)Targeted 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 2017Relevant
27907889Create Studydenovo-db: a compendium of human de novo variants.Nucleic acids researchTurner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EEJanuary 2017Not Relevant
27824329Create StudyDe novo genic mutations among a Chinese autism spectrum disorder cohort.Nature communicationsWang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, et al.November 2016Not Determined
26942287Create StudyDisruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.American journal of human geneticsStessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, Van Der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJ, Vles HS, Marcelis CM, Van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, et al.March 3, 2016Relevant
26917491Create StudyMolecular subtyping and improved treatment of neurodevelopmental disease.Genome medicineStessman HA, Turner TN, Eichler EE2016Not Relevant
26757981Create StudyDe novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.European journal of human genetics : EJHGLugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, Van Bon BW, Smeets E, Vulto-Van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, Van Den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, De Vries PF, Veltman JA, Hoischen A, et al.January 13, 2016Relevant
26749307Create StudyMaternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.American journal of human geneticsDuyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EEJanuary 7, 2016Relevant
26721934Create StudyTRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.Human molecular geneticsBa W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BBMarch 1, 2016Relevant
26537056Create StudyADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.NeurologyChen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, et al.December 8, 2015Not Determined
26235985Create StudyMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.American journal of human geneticsSnijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, et al.August 6, 2015Relevant
26168268Create StudyB56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.The Journal of clinical investigationHouge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, et al.August 3, 2015Not Relevant
25961944Create StudyExcess of rare, inherited truncating mutations in autism.Nature geneticsKrumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EEJune 2015Not Determined
25843334Create StudyGenotype-first analysis of the 16p11.2 deletion defines a new type of "autism".Biological psychiatryDuyzend, Michael H; Eichler, Evan EMay 1, 2015Not Relevant
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
25830323Create StudyCopy-number variation and false positive prenatal aneuploidy screening results.The New England journal of medicineSnyder MW, Simmons LE, Kitzman JO, Coe BP, Henson JM, Daza RM, Eichler EE, Shendure J, Gammill HSApril 23, 2015Not Determined
25707398Create StudyDisruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.Molecular psychiatryvan Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EEJanuary 2016Relevant
25629966Create StudyEpigenetics of autism-related impairment: copy number variation and maternal infection.Journal of developmental and behavioral pediatrics : JDBPMazina V, Gerdts J, Trinh S, Ankenman K, Ward T, Dennis MY, Girirajan S, Eichler EE, Bernier R2015 Feb-MarNot Determined
25418537Create StudyRecurrent de novo mutations implicate novel genes underlying simplex autism risk.Nature communicationsO'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE2014Relevant
25378250Create StudyThe discovery of integrated gene networks for autism and related disorders.Genome researchHormozdiari F, Penn O, Borenstein E, Eichler EEJanuary 2015Not Determined
25363768Create StudyThe contribution of de novo coding mutations to autism spectrum disorder.NatureIossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, et al.November 13, 2014Relevant
25232744Create StudyDe novo TBR1 mutations in sporadic autism disrupt protein functions.Nature communicationsDeriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE2014Not Determined
25217958Create StudyRefining analyses of copy number variation identifies specific genes associated with developmental delay.Nature geneticsCoe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, et al.October 2014Not Determined
25169753Create StudyThe transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.American journal of medical genetics. Part C, Seminars in medical geneticsVandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RFSeptember 2014Not Determined
24998929Create StudyDisruptive CHD8 mutations define a subtype of autism early in development.CellBernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, et al.July 17, 2014Relevant
24866042Create StudyPrioritization of neurodevelopmental disease genes by discovery of new mutations.Nature neuroscienceHoischen A, Krumm N, Eichler EEJune 2014Not Determined
24581740Create StudyA higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.American journal of human geneticsJacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EEMarch 6, 2014Not Determined
24581488Create StudyA genotype-first approach to defining the subtypes of a complex disease.CellStessman HA, Bernier R, Eichler EEFebruary 27, 2014Not Determined
24531329Create StudyA SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.Nature geneticsHelsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa NApril 2014Not Determined
help.tab.dataexpected

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
28628100Create StudyHotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Nature neuroscienceGeisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, et al.June 2017
28332277Create StudySequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsKim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP, March 2017
26942287Create StudyDisruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.American journal of human geneticsStessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, Van Der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJ, Vles HS, Marcelis CM, Van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, et al.March 3, 2016
26757981Create StudyDe novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.European journal of human genetics : EJHGLugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, Van Bon BW, Smeets E, Vulto-Van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, Van Den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, De Vries PF, Veltman JA, Hoischen A, et al.January 13, 2016
26749307Create StudyMaternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.American journal of human geneticsDuyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EEJanuary 7, 2016
26721934Create StudyTRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.Human molecular geneticsBa W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BBMarch 1, 2016
26235985Create StudyMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.American journal of human geneticsSnijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, et al.August 6, 2015
25707398Create StudyDisruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.Molecular psychiatryvan Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EEJanuary 2016
25418537Create StudyRecurrent de novo mutations implicate novel genes underlying simplex autism risk.Nature communicationsO'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE2014
25363768Create StudyThe contribution of de novo coding mutations to autism spectrum disorder.NatureIossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, et al.November 13, 2014
24998929Create StudyDisruptive CHD8 mutations define a subtype of autism early in development.CellBernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, et al.July 17, 2014
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Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Movement Assessment Battery for Children - 2 info iconApproved
Research Subject and Pedigree info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
Wechsler Abbreviated Scale of Intelligence (WASI) info iconApproved
Social Communication Questionnaire (SCQ) info iconApproved
Child Behavior Checklist (CBCL) info iconApproved
ADOS info iconApproved
DAS-II: Differential Ability Scales info iconApproved
Expressive Vocabulary Test II (EVT II) info iconApproved
Delis-Kaplan Executive Function System (D-KEFS) info iconApproved
ABC Community info iconApproved
Physical Exam info iconApproved
Adult Behavior Checklist (ABCL) info iconApproved
Peabody Picture Vocabulary Test, Fourth Edition info iconApproved
genomics/omics info iconApproved
Handedness Form 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
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biasesGene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 patients and >2,867 controls. We report 91 genes with an excess of de novo mutations or private disruptive mutations in 5.7% of patients, including 38 novel NDD genes. Drosophila functional assays of a subset bolster their involvement in NDDs. We identify 25 genes that show a bias for autism versus intellectual disability and highlight a network associated with high-functioning autism (FSIQ>100). Clinical follow-up for NAA15, KMT5B, and ASH1L reveals novel syndromic and non-syndromic forms of disease. [Note: Upload of individual sample-level raw data files is ongoing and expected to be completed by 02/28/2017.]15291/15561Primary AnalysisShared
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. 4623/6360Primary AnalysisShared
* Data not on individual level
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