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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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General

Title, investigators, and Collection Description may be edited along with the Collection Phase. For Collection Phase, the options Pre-enrollment, Enrollment, and Completed can be chosen allowing the Collection Owner to indicate the stage of data collection.

Funding Source

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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
Enrolling
Shared
$2,654,498.00
15,371
54
110
Loading Chart...
NIH - Extramural None


R01MH101221-01 Sporadic Mutations and Autism Spectrum Disorders 08/01/2013 03/31/2017 54 110 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 57
Adult Behavior Check List Clinical Assessments 6
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1 Clinical Assessments 24
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2 Clinical Assessments 12
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 21
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4 Clinical Assessments 3
Child Behavior Checklist (CBCL) 1-5 Clinical Assessments 8
Child Behavior Checklist (CBCL) 6-18 Clinical Assessments 47
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 30
DAS-II:Differential Ability Scales 2nd Ed. Early Years Clinical Assessments 26
Delis-Kaplan Executive Function System Clinical Assessments 33
Edinburgh Handedness Inventory Clinical Assessments 57
Expressive Vocabulary Test Clinical Assessments 43
Height and Weight Clinical Assessments 56
Movement Assessment Battery for Children - 2 Clinical Assessments 39
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 53
Purdue Pegboard Clinical Assessments 46
Research Subject Clinical Assessments 62
SRS-2. Adult, Preschool and School Age Clinical Assessments 61
Social Communication Questionnaire (SCQ) - Lifetime Clinical Assessments 59
WASI-2 Clinical Assessments 6

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
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
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
help.tab.dataexpected.addnew
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Movement Assessment Battery for Children - 2 info iconApproved
Research Subject and Pedigree info iconApproved
Expressive Vocabulary Test II (EVT II) info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
Wechsler Abbreviated Scale of Intelligence (WASI) info iconApproved
Social Communication Questionnaire (SCQ) info iconApproved
ADOS info iconApproved
DAS-II: Differential Ability Scales info iconApproved
Adult Behavior Checklist (ABCL) info iconApproved
Peabody Picture Vocabulary Test, Fourth Edition info iconApproved
Physical Exam info iconApproved
Delis-Kaplan Executive Function System (D-KEFS) info iconApproved
ABC Community info iconApproved
Child Behavior Checklist (CBCL) 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
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases Gene-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 / 15561 Primary Analysis Shared
* Data not on individual level
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