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1 Numbers reported are subjects by age
New Trial
New Project

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

Collection - Use Existing Experiment
To associate an experiment to the current collection, just select an axperiment from the table below then click the associate experiment button to persist your changes (saving the collection is not required). Note that once an experiment has been associated to two or more collections, the experiment will not longer be editable.

The table search feature is case insensitive and targets the experiment id, experiment name and experiment type columns. The experiment id is searched only when the search term entered is a number, and filtered using a startsWith comparison. When the search term is not numeric the experiment name is used to filter the results.
SelectExperiment IdExperiment NameExperiment Type
Created On
475MB1-10 (CHOP)Omics06/07/2016
490Illumina Infinium PsychArray BeadChip AssayOmics07/07/2016
501PharmacoBOLD Resting StatefMRI07/27/2016
509ABC-CT Resting v2EEG08/18/2016
13Comparison of FI expression in Autistic and Neurotypical Homo SapiensOmics12/28/2010
18AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics01/06/2011
22Stitching PCR SequencingOmics02/14/2011
29Microarray family 03 (father, mother, sibling)Omics03/24/2011
37Standard paired-end sequencing of BCRsOmics04/19/2011
38Illumina Mate-Pair BCR sequencingOmics04/19/2011
39Custom Jumping LibrariesOmics04/19/2011
40Custom CapBPOmics04/19/2011
43Autism brain sample genotyping, IlluminaOmics05/16/2011
47ARRA Autism Sequencing Collaboration at Baylor. SOLiD 4 SystemOmics08/01/2011
53AGRE Omni1-quadOmics10/11/2011
59AGP genotypingOmics04/03/2012
60Ultradeep 454 sequencing of synaptic genes from postmortem cerebella of individuals with ASD and neurotypical controlsOmics06/23/2012
63Microemulsion PCR and Targeted Resequencing for Variant Detection in ASDOmics07/20/2012
76Whole Genome Sequencing in Autism FamiliesOmics01/03/2013
90Genotyped IAN SamplesOmics07/09/2013
91NJLAGS Axiom Genotyping ArrayOmics07/16/2013
93AGP genotyping (CNV)Omics09/06/2013
106Longitudinal Sleep Study. H20 200. Channel set 2EEG11/07/2013
107Longitudinal Sleep Study. H20 200. Channel set 3EEG11/07/2013
108Longitudinal Sleep Study. AURA 200EEG11/07/2013
105Longitudinal Sleep Study. H20 200. Channel set 1EEG11/07/2013
109Longitudinal Sleep Study. AURA 400EEG11/07/2013
116Gene Expression Analysis WG-6Omics01/07/2014
131Jeste Lab UCLA ACEii: Charlie Brown and Sesame Street - Project 1Eye Tracking02/27/2014
132Jeste Lab UCLA ACEii: Animacy - Project 1Eye Tracking02/27/2014
133Jeste Lab UCLA ACEii: Mom Stranger - Project 2Eye Tracking02/27/2014
134Jeste Lab UCLA ACEii: Face Emotion - Project 3Eye Tracking02/27/2014
151Candidate Gene Identification in familial AutismOmics06/09/2014
152NJLAGS Whole Genome SequencingOmics07/01/2014
154Math Autism Study - Vinod MenonfMRI07/15/2014
160syllable contrastEEG07/29/2014
167School-age naturalistic stimuliEye Tracking09/19/2014
44AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics06/27/2011
45Exome Sequencing of 20 Sporadic Cases of Autism Spectrum DisorderOmics07/15/2011
Collection - Add Experiment
Add Supporting Documentation
Select File

To add an existing Data Structure, enter its title in the search bar. If you need to request changes, select the indicator "No, it requires changes to meet research needs" after selecting the Structure, and upload the file with the request changes specific to the selected Data Structure. Your file should follow the Request Changes Procedure. If the Data Structure does not exist, select "Request New Data Structure" and upload the appropriate zip file.

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The Data Expected list for this Collection shows some raw data as missing. Contact the NDA Help Desk with any questions.

Please confirm that you will not be enrolling any more subjects and that all raw data has been collected and submitted.

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Your Collection is now in Data Analysis phase and exempt from biannual submissions. Analyzed data is still expected prior to publication or no later than the project end date.

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[CMS] Please confirm that you will not be enrolling any more subjects and that all raw data has been collected and submitted.
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Unable to change collection phase where targeted enrollment is less than 90%

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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
NIMH Data Archive
Funding Completed
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NIH - Extramural None

R01MH101221-01 Sporadic Mutations and Autism Spectrum Disorders 08/01/2013 12/31/2020 54 110 UNIVERSITY OF WASHINGTON $3,357,802.00


NDA Help Center

Collection - General Tab

Fields available for edit on the top portion of the page include:

  • Collection Title
  • Investigators
  • Collection Description
  • Collection Phase
  • Funding Source
  • Clinical Trials

Collection Phase: The current status of a research project submitting data to an NDA Collection, based on the timing of the award and/or the data that have been submitted.

  • Pre-Enrollment: The default entry made when the NDA Collection is created.
  • Enrolling: Data have been submitted to the NDA Collection or the NDA Data Expected initial submission date has been reached for at least one data structure category in the NDA Collection.
  • Data Analysis: Subject level data collection for the research project is completed and has been submitted to the NDA Collection. The NDA Collection owner or the NDA Help Desk may set this phase when they’ve confirmed data submission is complete and submitted subject counts match at least 90% of the target enrollment numbers in the NDA Data Expected. Data submission reminders will be turned off for the NDA Collection.
  • Funding Completed: The NIH grant award (or awards) associated with the NDA Collection has reached its end date. NDA Collections in Funding Completed phase are assigned a subphase to indicate the status of data submission.
    • The Data Expected Subphase indicates that NDA expects more data will be submitted
    • The Closeout Subphase indicates the data submission is complete.
    • The Sharing Not Met Subphase indicates that data submission was not completed as expected.

Blinded Clinical Trial Status:

  • This status is set by a Collection Owner and indicates the research project is a double blinded clinical trial. When selected, the public view of Data Expected will show the Data Expected items and the Submission Dates, but the targeted enrollment and subjects submitted counts will not be displayed.
  • Targeted enrollment and subjects submitted counts are visible only to NDA Administrators and to the NDA Collection or as the NDA Collection Owner.
  • When an NDA Collection that is flagged Blinded Clinical Trial reaches the maximum data sharing date for that Data Repository (see https://nda.nih.gov/nda/sharing-regimen.html), the embargo on Data Expected information is released.

Funding Source

The organization(s) responsible for providing the funding is listed here.

Supporting Documentation

Users with Submission privileges, as well as Collection Owners, Program Officers, and those with Administrator privileges, may upload and attach supporting documentation. By default, supporting documentation is shared to the general public, however, the option is also available to limit this information to qualified researchers only.

Grant Information

Identifiable details are displayed about the Project of which the Collection was derived from. You may click in the Project Number to view a full report of the Project captured by the NIH.

Clinical Trials

Any data that is collected to support or further the research of clinical studies will be available here. Collection Owners and those with Administrator privileges may add new clinical trials.

Frequently Asked Questions

  • How does the NIMH Data Archive (NDA) determine which Permission Group data are submitted into?
    During Collection creation, NDA staff determine the appropriate Permission Group based on the type of data to be submitted, the type of access that will be available to data access users, and the information provided by the Program Officer during grant award.
  • How do I know when a NDA Collection has been created?
    When a Collection is created by NDA staff, an email notification will automatically be sent to the PI(s) of the grant(s) associated with the Collection to notify them.
  • Is a single grant number ever associated with more than one Collection?
    The NDA system does not allow for a single grant to be associated with more than one Collection; therefore, a single grant will not be listed in the Grant Information section of a Collection for more than one Collection.
  • Why is there sometimes more than one grant included in a Collection?
    In general, each Collection is associated with only one grant; however, multiple grants may be associated if the grant has multiple competing segments for the same grant number or if multiple different grants are all working on the same project and it makes sense to hold the data in one Collection (e.g., Cooperative Agreements).


  • Administrator Privilege
    A privilege provided to a user associated with an NDA Collection or NDA Study whereby that user can perform a full range of actions including providing privileges to other users.
  • Collection Owner
    Generally, the Collection Owner is the contact PI listed on a grant. Only one NDA user is listed as the Collection owner. Most automated emails are primarily sent to the Collection Owner.
  • Collection Phase
    The Collection Phase provides information on data submission as opposed to grant/project completion so while the Collection phase and grant/project phase may be closely related they are often different. Collection users with Administrative Privileges are encouraged to edit the Collection Phase. The Program Officer as listed in eRA (for NIH funded grants) may also edit this field. Changes must be saved by clicking the Save button at the bottom of the page. This field is sortable alphabetically in ascending or descending order. Collection Phase options include:
    • Pre-Enrollment: A grant/project has started, but has not yet enrolled subjects.
    • Enrolling: A grant/project has begun enrolling subjects. Data submission is likely ongoing at this point.
    • Data Analysis: A grant/project has completed enrolling subjects and has completed all data submissions.
    • Funding Completed: A grant/project has reached the project end date.
  • Collection Title
    An editable field with the title of the Collection, which is often the title of the grant associated with the Collection.
  • Grant
    Provides the grant number(s) for the grant(s) associated with the Collection. The field is a hyperlink so clicking on the Grant number will direct the user to the grant information in the NIH Research Portfolio Online Reporting Tools (RePORT) page.
  • Supporting Documentation
    Various documents and materials to enable efficient use of the data by investigators unfamiliar with the project and may include the research protocol, questionnaires, and study manuals.
  • NIH Research Initiative
    NDA Collections may be organized by scientific similarity into NIH Research Initiatives, to facilitate query tool user experience. NIH Research Initiatives map to one or multiple Funding Opportunity Announcements.
  • Permission Group
    Access to shared record-level data in NDA is provisioned at the level of a Permission Group. NDA Permission Groups consist of one or multiple NDA Collections that contain data with the same subject consents.
  • Planned Enrollment
    Number of human subject participants to be enrolled in an NIH-funded clinical research study. The data is provided in competing applications and annual progress reports.
  • Actual Enrollment
    Number of human subjects enrolled in an NIH-funded clinical research study. The data is provided in annual progress reports.
  • NDA Collection
    A virtual container and organization structure for data and associated documentation from one grant or one large project/consortium. It contains tools for tracking data submission and allows investigators to define a wide array of other elements that provide context for the data, including all general information regarding the data and source project, experimental parameters used to collect any event-based data contained in the Collection, methods, and other supporting documentation. They also allow investigators to link underlying data to an NDA Study, defining populations and subpopulations specific to research aims.
  • Data Use Limitations
    Data Use Limitations (DULs) describe the appropriate secondary use of a dataset and are based on the original informed consent of a research participant. NDA only accepts consent-based data use limitations defined by the NIH Office of Science Policy.
  • Total Subjects Shared
    The total number of unique subjects for whom data have been shared and are available for users with permission to access data.
IDNameCreated DateStatusType
586MIP sequencing01/09/2017ApprovedOmics

NDA Help Center

Collection - Experiments

The number of Experiments included is displayed in parentheses next to the tab name. You may download all experiments associated with the Collection via the Download button. You may view individual experiments by clicking the Experiment Name and add them to the Filter Cart via the Add to Cart button.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may create or edit an Experiment.

Please note: The creation of an NDA Experiment does not necessarily mean that data collected, according to the defined Experiment, has been submitted or shared.

Frequently Asked Questions

  • Can an Experiment be associated with more than one Collection?

    Yes -see the “Copy” button in the bottom left when viewing an experiment. There are two actions that can be performed via this button:

    1. Copy the experiment with intent for modifications.
    2. Associate the experiment to the collection. No modifications can be made to the experiment.


  • Experiment Status
    An Experiment must be Approved before data using the associated Experiment_ID may be uploaded.
  • Experiment ID
    The ID number automatically generated by NDA which must be included in the appropriate file when uploading data to link the Experiment Definition to the subject record.
Aberrant Behavior Checklist (ABC) - Community Clinical Assessments 86
Adult Behavior Check List Clinical Assessments 13
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1 Clinical Assessments 67
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2 Clinical Assessments 29
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 35
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4 Clinical Assessments 5
Child Behavior Checklist (CBCL) 1-5 Clinical Assessments 48
Child Behavior Checklist (CBCL) 6-18 Clinical Assessments 100
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 49
DAS-II:Differential Ability Scales 2nd Ed. Early Years Clinical Assessments 60
Delis-Kaplan Executive Function System Clinical Assessments 37
Edinburgh Handedness Inventory Clinical Assessments 154
Expressive Vocabulary Test Clinical Assessments 79
Genomics Sample Genomics 5
Genomics Subject Genomics 11111
Height and Weight Clinical Assessments 133
Movement Assessment Battery for Children - 2 Clinical Assessments 48
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 97
Purdue Pegboard Clinical Assessments 80
Research Subject Clinical Assessments 166
SRS-2. Adult, Preschool and School Age Clinical Assessments 158
Social Communication Questionnaire (SCQ) - Lifetime Clinical Assessments 84
WASI-2 Clinical Assessments 10

NDA Help Center

Collection - Shared Data

This tab provides a quick overview of the Data Structure title, Data Type, and Number of Subjects that are currently Shared for the Collection. The information presented in this tab is automatically generated by NDA and cannot be edited. If no information is visible on this tab, this would indicate the Collection does not have shared data or the data is private.

The shared data is available to other researchers who have permission to access data in the Collection's designated Permission Group(s). Use the Download button to get all shared data from the Collection to the Filter Cart.

Frequently Asked Questions

  • How will I know if another researcher uses data that I shared through the NIMH Data Archive (NDA)?
    To see what data your project have submitted are being used by a study, simply go the Associated Studies tab of your collection. Alternatively, you may review an NDA Study Attribution Report available on the General tab.
  • Can I get a supplement to share data from a completed research project?
    Often it becomes more difficult to organize and format data electronically after the project has been completed and the information needed to create a GUID may not be available; however, you may still contact a program staff member at the appropriate funding institution for more information.
  • Can I get a supplement to share data from a research project that is still ongoing?
    Unlike completed projects where researchers may not have the information needed to create a GUID and/or where the effort needed to organize and format data becomes prohibitive, ongoing projects have more of an opportunity to overcome these challenges. Please contact a program staff member at the appropriate funding institution for more information.


  • Data Structure
    A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
  • Data Type
    A grouping of data by similar characteristics such as Clinical Assessments, Omics, or Neurosignal data.
  • Shared
    The term 'Shared' generally means available to others; however, there are some slightly different meanings based on what is Shared. A Shared NDA Study is viewable and searchable publicly regardless of the user's role or whether the user has an NDA account. A Shared NDA Study does not necessarily mean that data used in the NDA Study have been shared as this is independently determined. Data are shared according the schedule defined in a Collection's Data Expected Tab and/or in accordance with data sharing expectations in the NDA Data Sharing Terms and Conditions. Additionally, Supporting Documentation uploaded to a Collection may be shared independent of whether data are shared.

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 NDA 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
38622540Create StudyShared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.Journal of neurodevelopmental disordersNeuhaus, Emily; Rea, Hannah; Jones, Elizabeth; Benavidez, Hannah; Miles, Conor; Whiting, Alana; Johansson, Margaret; Eayrs, Curtis; Kurtz-Nelson, Evangeline C; Earl, Rachel; Bernier, Raphael A; Eichler, Evan EApril 15, 2024Not Determined
38298127Create StudyEffects of parental age and polymer composition on short tandem repeat de novo mutation rates.GeneticsGoldberg, Michael E; Noyes, Michelle D; Eichler, Evan E; Quinlan, Aaron R; Harris, KelleyApril 3, 2024Not Determined
38187618Create StudyEffects of parental age and polymer composition on short tandem repeat de novo mutation rates.bioRxiv : the preprint server for biologyGoldberg, Michael E; Noyes, Michelle D; Eichler, Evan E; Quinlan, Aaron R; Harris, KelleyDecember 23, 2023Not Determined
37987233Create StudySocial motivation by self- and caregiver-report: Reporter concordance and social correlates among autistic and neurotypical youth.Autism research : official journal of the International Society for Autism ResearchNeuhaus, Emily; Bernier, Raphael A; Webb, Sara JaneJanuary 1, 2024Not Determined
37497568Create StudyCharacterizing the autism spectrum phenotype in DYRK1A-related syndrome.Autism research : official journal of the International Society for Autism ResearchKurtz-Nelson, Evangeline C; Rea, Hannah M; Petriceks, Aiva C; Hudac, Caitlin M; Wang, Tianyun; Earl, Rachel K; Bernier, Raphael A; Eichler, Evan E; Neuhaus, EmilyAugust 1, 2023Not Determined
37316925Create StudyApplications of long-read sequencing to Mendelian genetics.Genome medicineMastrorosa, Francesco Kumara; Miller, Danny E; Eichler, Evan EJune 14, 2023Not Determined
37256937Create StudyPSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Science translational medicineEbstein, Frédéric; Küry, Sébastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M; Besnard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M W; Vignard, Virginie; van Jaarsveld, Richard H; Ades, Lesley; Cogné, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C J; Cole, F Sessions; van den Boogaard, Marie-José H; Wambach, Jennifer A; Wegner, Daniel J; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gélineau, Anne-Claire; Powis, Zöe; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T; Osmond, Matthew; Wheeler, Patricia G; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Geneviève; Barcia, Giulia; Feichtinger, René Günther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frédéric; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Völker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E; Elgersma, Ype; Hildebrand, Peter W; Bolduc, François; Krüger, Elke; Bézieau, StéphaneMay 31, 2023Not Determined
37031308Create StudyCharacterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.Journal of autism and developmental disordersHudac, Caitlin M; Friedman, Nicole R; Ward, Victoria R; Estreicher, Rachel E; Dorsey, Grace C; Bernier, Raphael A; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Eichler, Evan E; Neuhaus, EmilyApril 8, 2023Not Determined
36924980Create StudyGenetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.Biological psychiatryDing, Zijiao; Huang, Guiyang; Wang, Tianyun; Duan, Weicheng; Li, Hua; Wang, Yirong; Jia, Huiting; Yang, Ziqian; Wang, Kang; Chu, Xufeng; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn; Earl, Rachel K; Han, Yunyun; Feliciano, Pamela; Chung, Wendy K; Eichler, Evan E; Jiang, Man; Xiong, BoNovember 15, 2023Not Determined
36745127Create StudyDiscovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genetics in medicine : official journal of the American College of Medical Geneticsvan der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael; Giordano, Jessica L; Wapner, Ronald J; Rosenfeld, Jill A; Haak, Monique C; Santen, Gijs W EFebruary 1, 2023Not Determined
36350923Create StudyIntegrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.Proceedings of the National Academy of Sciences of the United States of AmericaWang, Tianyun; Kim, Chang N; Bakken, Trygve E; Gillentine, Madelyn A; Henning, Barbara; Mao, Yafei; Gilissen, Christian; SPARK Consortium; Nowakowski, Tomasz J; Eichler, Evan ENovember 15, 2022Not Determined
36266569Create StudyA predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years.Molecular psychiatryBao, Bokan; Zahiri, Javad; Gazestani, Vahid H; Lopez, Linda; Xiao, Yaqiong; Kim, Raphael; Wen, Teresa H; Chiang, Austin W T; Nalabolu, Srinivasa; Pierce, Karen; Robasky, Kimberly; Wang, Tianyun; Hoekzema, Kendra; Eichler, Evan E; Lewis, Nathan E; Courchesne, EricFebruary 1, 2023Not Determined
35982159Create StudyIntegrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.Nature geneticsZhou, Xueya; Feliciano, Pamela; Shu, Chang; Wang, Tianyun; Astrovskaya, Irina; Hall, Jacob B; Obiajulu, Joseph U; Wright, Jessica R; Murali, Shwetha C; Xu, Simon Xuming; Brueggeman, Leo; Thomas, Taylor R; Marchenko, Olena; Fleisch, Christopher; Barns, Sarah D; Snyder, LeeAnne Green; Han, Bing; Chang, Timothy S; Turner, Tychele N; Harvey, William T; Nishida, Andrew; O'Roak, Brian J; Geschwind, Daniel H; SPARK Consortium; Michaelson, Jacob J; Volfovsky, Natalia; Eichler, Evan E; Shen, Yufeng; Chung, Wendy KSeptember 1, 2022Not Determined
35977029Create StudyDe novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Science advancesJia, Xiangbin; Zhang, Shujie; Tan, Senwei; Du, Bing; He, Mei; Qin, Haisong; Chen, Jia; Duan, Xinyu; Luo, Jingsi; Chen, Fei; Ouyang, Luping; Wang, Jian; Chen, Guodong; Yu, Bin; Zhang, Ge; Zhang, Zimin; Lyu, Yongqing; Huang, Yi; Jiao, Jian; Chen, Jin Yun Helen; Swoboda, Kathryn J; Agolini, Emanuele; Novelli, Antonio; Leoni, Chiara; Zampino, Giuseppe; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Gerard, Benedicte; Ginglinger, Emmanuelle; Richer, Julie; McMillan, Hugh; White-Brown, Alexandre; Hoekzema, Kendra; Bernier, Raphael A; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Meddens, Claartje; Alders, Marielle; Fuchs, Meredith; Caumes, Roseline; Brunelle, Perrine; Smol, Thomas; Kuehl, Ryan; Day-Salvatore, Debra-Lynn; Monaghan, Kristin G; Morrow, Michelle M; Eichler, Evan E; Hu, Zhengmao; Yuan, Ling; Tan, Jieqiong; Xia, Kun; Shen, Yiping; Guo, HuiAugust 19, 2022Not Determined
35917186Create StudyGIGYF1 disruption associates with autism and impaired IGF-1R signaling.The Journal of clinical investigationChen, Guodong; Yu, Bin; Tan, Senwei; Tan, Jieqiong; Jia, Xiangbin; Zhang, Qiumeng; Zhang, Xiaolei; Jiang, Qian; Hua, Yue; Han, Yaoling; Luo, Shengjie; Hoekzema, Kendra; Bernier, Raphael A; Earl, Rachel K; Kurtz-Nelson, Evangeline C; Idleburg, Michaela J; Madan-Khetarpal, Suneeta; Clark, Rebecca; Sebastian, Jessica; Fernandez-Jaen, Alberto; Alvarez, Sara; King, Staci D; Ramos, Luiza Lp; Santos, Mara Lucia Sf; Martin, Donna M; Brooks, Dan; Symonds, Joseph D; Cutcutache, Ioana; Pan, Qian; Hu, Zhengmao; Yuan, Ling; Eichler, Evan E; Xia, Kun; Guo, HuiOctober 3, 2022Not Determined
35811283Create StudyTargeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchMiller, Danny E; Hanna, Patrick; Galey, Miranda; Reyes, Monica; Linglart, Agnès; Eichler, Evan E; Jüppner, HaraldSeptember 1, 2022Not Determined
35698786Create StudyFunctional divergence of the two Elongator subcomplexes during neurodevelopment.EMBO molecular medicineGaik, Monika; Kojic, Marija; Stegeman, Megan R; Öncü-Öner, Tülay; Kościelniak, Anna; Jones, Alun; Mohamed, Ahmed; Chau, Pak Yan Stefanie; Sharmin, Sazia; Chramiec-Głąbik, Andrzej; Indyka, Paulina; Rawski, Michał; Biela, Anna; Dobosz, Dominika; Millar, Amanda; Chau, Vann; Ünalp, Aycan; Piper, Michael; Bellingham, Mark C; Eichler, Evan E; Nickerson, Deborah A; Güleryüz, Handan; Abbassi, Nour El Hana; Jazgar, Konrad; Davis, Melissa J; Mercimek-Andrews, Saadet; Cingöz, Sultan; Wainwright, Brandon J; Glatt, SebastianJuly 7, 2022Not Determined
35579625Create StudyDiscovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genetics in medicine : official journal of the American College of Medical Geneticsvan der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael; Giordano, Jessica L; Wapner, Ronald J; Rosenfeld, Jill A; Haak, Monique C; Santen, Gijs W EAugust 1, 2022Not Determined
35534204Create StudyTargeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.Journal of medical geneticsMiller, Danny E; Lee, Lin; Galey, Miranda; Kandhaya-Pillai, Renuka; Tischkowitz, Marc; Amalnath, Deepak; Vithlani, Avadh; Yokote, Koutaro; Kato, Hisaya; Maezawa, Yoshiro; Takada-Watanabe, Aki; Takemoto, Minoru; Martin, George M; Eichler, Evan E; Hisama, Fuki M; Oshima, JunkoMay 9, 2022Not Determined
35430327Create StudyNovel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.European journal of medical geneticsCingöz, Sultan; Soydemir, Didem; Öner, Tülay Öncü; Karaca, Ezgi; Özden, Burcu; Kurul, Semra Hız; Bayram, Erhan; University of Washington Center for Mendelian Genomics; Coe, Bradley P; Nickerson, Deborah A; Eichler, Evan EJune 1, 2022Not Determined
35410794Create StudyRare variants and the oligogenic architecture of autism.Trends in genetics : TIGWang, Tianyun; Zhao, Peiyao A; Eichler, Evan ESeptember 1, 2022Not Determined
35290762Create StudyFamilial long-read sequencing increases yield of de novo mutations.American journal of human geneticsNoyes, Michelle D; Harvey, William T; Porubsky, David; Sulovari, Arvis; Li, Ruiyang; Rose, Nicholas R; Audano, Peter A; Munson, Katherine M; Lewis, Alexandra P; Hoekzema, Kendra; Mantere, Tuomo; Graves-Lindsay, Tina A; Sanders, Ashley D; Goodwin, Sara; Kramer, Melissa; Mokrab, Younes; Zody, Michael C; Hoischen, Alexander; Korbel, Jan O; McCombie, W Richard; Eichler, Evan EApril 7, 2022Not Determined
35236119Create StudyGenes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.The American journal of psychiatryJacquemont, Sébastien; Huguet, Guillaume; Klein, Marieke; Chawner, Samuel J R A; Donald, Kirsten A; van den Bree, Marianne B M; Sebat, Jonathan; Ledbetter, David H; Constantino, John N; Earl, Rachel K; McDonald-McGinn, Donna M; van Amelsvoort, Therese; Swillen, Ann; O'Donnell-Luria, Anne H; Glahn, David C; Almasy, Laura; Eichler, Evan E; Scherer, Stephen W; Robinson, Elise; Bassett, Anne S; Martin, Christa Lese; Finucane, Brenda; Vorstman, Jacob A S; Bearden, Carrie E; Gur, Raquel E; Genes to Mental Health NetworkMarch 1, 2022Not Determined
35094443Create StudyDelineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.Human mutationGofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A; Scott, Tiana M; Berry, Aliska M; Azamian, Mahshid S; Genetti, Casie; Agrawal, Pankaj B; Picker, Jonathan; Wojcik, Monica H; Delgado, Mauricio R; Lynch, Sally A; Scherer, Stephen W; Howe, Jennifer L; Bacino, Carlos A; DiTroia, Stephanie; VanNoy, Grace E; O'Donnell-Luria, Anne; Lalani, Seema R; Graf, William D; Rosenfeld, Jill A; Eichler, Evan E; Earl, Rachel K; Scott, Daryl AApril 1, 2022Not Determined
34633740Create StudyA family study implicates GBE1 in the etiology of autism spectrum disorder.Human mutationFanjul-Fernández, Miriam; Brown, Natasha J; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P; Eichler, Evan E; Delatycki, Martin B; Wilson, Sarah J; Bahlo, Melanie; Scheffer, Ingrid E; Lockhart, Paul JJanuary 1, 2022Not Determined
34633442Create StudyGain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.Brain : a journal of neurologyAhring, Philip K; Liao, Vivian W Y; Gardella, Elena; Johannesen, Katrine M; Krey, Ilona; Selmer, Kaja K; Stadheim, Barbro F; Davis, Hannah; Peinhardt, Charlotte; Koko, Mahmoud; Coorg, Rohini K; Syrbe, Steffen; Bertsche, Astrid; Santiago-Sim, Teresa; Diemer, Tue; Fenger, Christina D; Platzer, Konrad; Eichler, Evan E; Lerche, Holger; Lemke, Johannes R; Chebib, Mary; Møller, Rikke SMay 24, 2022Not Determined
34616060Create StudySingle-cell epigenomics reveals mechanisms of human cortical development.NatureZiffra, Ryan S; Kim, Chang N; Ross, Jayden M; Wilfert, Amy; Turner, Tychele N; Haeussler, Maximilian; Casella, Alex M; Przytycki, Pawel F; Keough, Kathleen C; Shin, David; Bogdanoff, Derek; Kreimer, Anat; Pollard, Katherine S; Ament, Seth A; Eichler, Evan E; Ahituv, Nadav; Nowakowski, Tomasz JOctober 1, 2021Not Determined
34312540Create StudyRecent ultra-rare inherited variants implicate new autism candidate risk genes.Nature geneticsWilfert, Amy B; Turner, Tychele N; Murali, Shwetha C; Hsieh, PingHsun; Sulovari, Arvis; Wang, Tianyun; Coe, Bradley P; Guo, Hui; Hoekzema, Kendra; Bakken, Trygve E; Winterkorn, Lara H; Evani, Uday S; Byrska-Bishop, Marta; Earl, Rachel K; Bernier, Raphael A; SPARK Consortium; Zody, Michael C; Eichler, Evan EAugust 1, 2021Not Determined
34216551Create StudyTargeted long-read sequencing identifies missing disease-causing variation.American journal of human geneticsMiller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; University of Washington Center for Mendelian Genomics; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan EAugust 5, 2021Not Determined
34211179Create StudyPathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nature geneticsCousin, Margot A; Creighton, Blake A; Breau, Keith A; Spillmann, Rebecca C; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J; Afriyie, Simone; Bay, Julia C; Harper, Kathryn M; Beltran, Alvaro A; Munoz, Lorena J; Falcon Rodriguez, Liset; Stankewich, Michael C; Person, Richard E; Si, Yue; Normand, Elizabeth A; Blevins, Amy; May, Alison S; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J; Brilstra, Eva; van Gassen, Koen L I; van Jaarsveld, Richard H; Oegema, Renske; Parsons, Gretchen M; Mark, Paul; Helbig, Ingo; McKeown, Sarah E; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A; Wang, Tianyun; Eichler, Evan E; van de Laar, Ingrid M B H; McConkie-Rosell, Allyn; McDonald, Marie T; Kemppainen, Jennifer; Lanpher, Brendan C; Schultz-Rogers, Laura E; Gunderson, Lauren B; Pichurin, Pavel N; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran, Adriana S; Zimmermann, Michael T; Temple, Brenda; Moy, Sheryl S; Klee, Eric W; Tan, Queenie K-G; Lorenzo, Damaris NJuly 1, 2021Not Determined
34148555Create StudyReflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.Journal of neurodevelopmental disordersArnett, Anne B; Wang, Tianyun; Eichler, Evan E; Bernier, Raphael AJune 21, 2021Not Determined
34088660Create StudyThe CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.Science advancesColl-Tané, Mireia; Gong, Naihua N; Belfer, Samuel J; van Renssen, Lara V; Kurtz-Nelson, Evangeline C; Szuperak, Milan; Eidhof, Ilse; van Reijmersdal, Boyd; Terwindt, Isabel; Durkin, Jaclyn; Verheij, Michel M M; Kim, Chang N; Hudac, Caitlin M; Nowakowski, Tomasz J; Bernier, Raphael A; Pillen, Sigrid; Earl, Rachel K; Eichler, Evan E; Kleefstra, Tjitske; Kayser, Matthew S; Schenck, AnnetteJune 1, 2021Not Determined
33998396Create StudySleep Problems in Children with ASD and Gene Disrupting Mutations.The Journal of genetic psychologyEarl, Rachel K; Ward, Tracey; Gerdts, Jennifer; Eichler, Evan E; Bernier, Raphael A; Hudac, Caitlin MSeptember 1, 2021Not Determined
33874999Create StudyRare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome medicineGillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; CAUSES Study; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; SPARK Consortium; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan EApril 19, 2021Not Determined
33727758Create StudyCo-occurring medical conditions among individuals with ASD-associated disruptive mutations.Children''s health care : journal of the Association for the Care of Children''s HealthKurtz-Nelson, Evangeline C; Beighley, Jennifer S; Hudac, Caitlin M; Gerdts, Jennifer; Wallace, Arianne S; Hoekzema, Kendra; Eichler, Evan E; Bernier, Raphael AJanuary 1, 2020Not Determined
33596411Create StudySPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.American journal of human geneticsRadio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham Jr, John M; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder Jr, Jimmy Lloyd; Tartaglia, MarcoMarch 4, 2021Not Determined
33439542Create StudyHuman disease genes website series: An international, open and dynamic library for up-to-date clinical information.American journal of medical genetics. Part ADingemans, Alexander J M; Stremmelaar, Diante E; Vissers, Lisenka E L M; Jansen, Sandra; Nabais Sá, Maria J; van Remortele, Angela; Jonis, Noraly; Truijen, Kim; van de Ven, Sam; Ewals, Jeroen; Verbruggen, Michel; Koolen, David A; Brunner, Han G; Eichler, Evan E; Gecz, Jozef; de Vries, Bert B AApril 1, 2021Not Determined
33175317Create StudyBrief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.Journal of autism and developmental disordersKurtz-Nelson, Evangeline C; Tham, See Wan; Ahlers, Kaitlyn; Cho, Daniel; Wallace, Arianne S; Eichler, Evan E; Bernier, Raphael A; Earl, Rachel KSeptember 1, 2021Not Determined
33157009Create StudyNCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.American journal of human geneticsGuo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K; Hernan, Rebecca; Alkuraya, Fowzan S; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frédéric; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R; Dreyer, Inken; Chun-Hui Tsai, Anne; Slegesky, Valerie; McGee, Rose B; Daniels, Brina; Sellars, Elizabeth A; Carpenter, Lori A; Schaefer, Bradley; Sacoto, Maria J Guillen; Begtrup, Amber; Schnur, Rhonda E; Punj, Sumit; Wentzensen, Ingrid M; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A; Chen, Chao; Eichler, Evan E; Xia, KunNovember 5, 2020Not Determined
33004838Create StudyLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Nature communicationsWang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; SPARK Consortium; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan EOctober 1, 2020Not Determined
32918531Create StudyDevelopmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism ResearchArnett, Anne B; Beighley, Jennifer S; Kurtz-Nelson, Evangeline C; Hoekzema, Kendra; Wang, Tianyun; Bernier, Raphe A; Eichler, Evan EOctober 1, 2020Not Determined
32359473Create StudyInsufficient Evidence for "Autism-Specific" Genes.American journal of human geneticsMyers, Scott M; Challman, Thomas D; Bernier, Raphael; Bourgeron, Thomas; Chung, Wendy K; Constantino, John N; Eichler, Evan E; Jacquemont, Sebastien; Miller, David T; Mitchell, Kevin J; Zoghbi, Huda Y; Martin, Christa Lese; Ledbetter, David HMay 7, 2020Not Determined
31999386Create StudyBAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.Human mutationScott, Tiana M; Guo, Hui; Eichler, Evan E; Rosenfeld, Jill A; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A; Streff, Haley; Lewis, Andrea M; Koenig, Mary K; Thiffault, Isabelle; Bellomo, Allison; Everman, David B; Jones, Julie R; Stevenson, Roger E; Bernier, Raphael; Gilissen, Christian; Pfundt, Rolph; Hiatt, Susan M; Cooper, Gregory M; Holder, Jimmy L; Scott, Daryl AMay 2020Not Determined
31785789Create StudySex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.American journal of human geneticsTurner, Tychele N; Wilfert, Amy B; Bakken, Trygve E; Bernier, Raphael A; Pepper, Micah R; Zhang, Zhancheng; Torene, Rebecca I; Retterer, Kyle; Eichler, Evan EDecember 2019Not Determined
31723249Create StudyDe novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Genetics in medicine : official journal of the American College of Medical GeneticsMirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G; Nickerson, Deborah A; van Binsbergen, Ellen; Enns, Gregory M; Dries, Annika M; Rowe, Leah J; Tsai, Anne C H; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H; Martinez-Agosto, Julian; Ockeloen, Charlotte W; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A; Undiagnosed Diseases Network,; Eichler, Evan E; Vincent, John B; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad, Michael JMarch 2020Not Determined
31674007Create StudyPhenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.Clinical geneticsWu, Huidan; Li, Honghui; Bai, Ting; Han, Lin; Ou, Jianjun; Xun, Guanglei; Zhang, Yu; Wang, Yazhe; Duan, Guiqin; Zhao, Ningxia; Chen, Biyuan; Du, Xiaogang; Yao, Meiling; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Eichler, Evan E; Guo, Hui; Xia, KunFebruary 2020Not Determined
31616000Create StudyDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.Nature communicationsGuo, Hui; Bettella, Elisa; Marcogliese, Paul C; Zhao, Rongjuan; Andrews, Jonathan C; Nowakowski, Tomasz J; Gillentine, Madelyn A; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H; van Bon, Bregje W; Rinne, Tuula; Stevens, Servi J C; Kleefstra, Tjitske; Brunner, Han G; Yntema, Helger G; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U; Erwin, Deanna J; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; University of Washington Center for Mendelian Genomics; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather C; Muir, Alison M; Scheffer, Ingrid E; Regan, Brigid M; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M; Waisfisz, Quinten; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ruivenkamp, Claudia A L; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A; Bernier, Raphael A; Wangler, Michael F; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P A; Bellen, Hugo J; Murgia, Alessandra; Eichler, Evan EOctober 2019Not Determined
31579823Create StudyDisruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.Science advancesGuo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P A; Prada, Carlos E; Hopkin, Robert J; Shieh, Joseph T; McWalter, Kirsty; Monaghan, Kristin G; van Hasselt, Peter M; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A; Lalani, Seema R; Azamian, Mahshid; Mancini, Grazia M S; Adams, Darius J; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gecz, Jozef; Haan, Eric; Ranells, Judith; Racobaldo, Melissa; Nordenskjold, Magnus; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; Rosenfeld, Jill A; de Vries, Bert B A; Bernier, Raphael A; Xu, Zhi-Qing David; Li, Honghui; Xie, Wei; Hufnagel, Robert B; Eichler, Evan E; Xia, KunSeptember 1, 2019Not Determined
31526516Create StudyClinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.Biological psychiatryBeighley, Jennifer S; Hudac, Caitlin M; Arnett, Anne B; Peterson, Jessica L; Gerdts, Jennifer; Wallace, Arianne S; Mefford, Heather C; Hoekzema, Kendra; Turner, Tychele N; O'Roak, Brian J; Eichler, Evan E; Bernier, Raphael AJanuary 2020Not Determined
31452935Create StudyExome sequencing of 457 autism families recruited online provides evidence for autism risk genes.NPJ genomic medicineFeliciano, Pamela; Zhou, Xueya; Astrovskaya, Irina; Turner, Tychele N; Wang, Tianyun; Brueggeman, Leo; Barnard, Rebecca; Hsieh, Alexander; Snyder, LeeAnne Green; Muzny, Donna M; Sabo, Aniko; SPARK Consortium; Gibbs, Richard A; Eichler, Evan E; O'Roak, Brian J; Michaelson, Jacob J; Volfovsky, Natalia; Shen, Yufeng; Chung, Wendy KJanuary 2019Not Determined
31417602Create StudyEnabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.Frontiers in geneticsNellåker, Christoffer; Alkuraya, Fowzan S; Baynam, Gareth; Bernier, Raphael A; Bernier, Francois P J; Boulanger, Vanessa; Brudno, Michael; Brunner, Han G; Clayton-Smith, Jill; Cogné, Benjamin; Dawkins, Hugh J S; deVries, Bert B A; Douzgou, Sofia; Dudding-Byth, Tracy; Eichler, Evan E; Ferlaino, Michael; Fieggen, Karen; Firth, Helen V; FitzPatrick, David R; Gration, Dylan; Groza, Tudor; Haendel, Melissa; Hallowell, Nina; Hamosh, Ada; Hehir-Kwa, Jayne; Hitz, Marc-Phillip; Hughes, Mark; Kini, Usha; Kleefstra, Tjitske; Kooy, R Frank; Krawitz, Peter; Küry, Sébastien; Lees, Melissa; Lyon, Gholson J; Lyonnet, Stanislas; Marcadier, Julien L; Meyn, Stephen; Moslerová, Veronika; Politei, Juan M; Poulton, Cathryn C; Raymond, F Lucy; Reijnders, Margot R F; Robinson, Peter N; Romano, Corrado; Rose, Catherine M; Sainsbury, David C G; Schofield, Lyn; Sutton, Vernon R; Turnovec, Marek; Van Dijck, Anke; Van Esch, Hilde; Wilkie, Andrew O M; Minerva ConsortiumJanuary 2019Not Determined
31300657Create StudyAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.Nature communicationsSalpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G; Santiago-Sim, Teresa; Person, Richard E; Cho, Megan T; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M; Jaeger, Bregje; Schneider, Amy L; Boysen, Katja; Muir, Alison M; Myers, Candace T; Gavrilova, Ralitza H; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Peñas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; SYNAPS Study Group; Raspall-Chaure, Miquel; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C; Scheffer, Ingrid E; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E; Eichler, Evan E; Kullmann, Dimitri M; Houlden, HenryJuly 2019Not Determined
31272685Create StudyHabituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.Biological psychiatryFenckova, Michaela; Blok, Laura E R; Asztalos, Lenke; Goodman, David P; Cizek, Pavel; Singgih, Euginia L; Glennon, Jeffrey C; IntHout, Joanna; Zweier, Christiane; Eichler, Evan E; von Reyn, Catherine R; Bernier, Raphael A; Asztalos, Zoltan; Schenck, AnnetteAugust 2019Not Determined
30970187Create StudyMolecular Genetic Anatomy and Risk Profile of Hirschsprung''s Disease.The New England journal of medicineTilghman, Joseph M; Ling, Albee Y; Turner, Tychele N; Sosa, Maria X; Krumm, Niklas; Chatterjee, Sumantra; Kapoor, Ashish; Coe, Bradley P; Nguyen, Khanh-Dung H; Gupta, Namrata; Gabriel, Stacey; Eichler, Evan E; Berrios, Courtney; Chakravarti, AravindaApril 2019Not Determined
30827496Create StudyMissense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.American journal of human geneticsCogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; CAUSES Study; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie; Deciphering Developmental Disorders study; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A F; Nellaker, Christoffer; Yang, Yaping; Lupski, James R; Goldstein, David B; Eichler, Evan E; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe MMarch 2019Not Determined
30564305Create StudyInherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.Molecular autismGuo, Hui; Wang, Tianyun; Wu, Huidan; Long, Min; Coe, Bradley P; Li, Honghui; Xun, Guanglei; Ou, Jianjun; Chen, Biyuan; Duan, Guiqin; Bai, Ting; Zhao, Ningxia; Shen, Yidong; Li, Yun; Wang, Yazhe; Zhang, Yu; Baker, Carl; Liu, Yanling; Pang, Nan; Huang, Lian; Han, Lin; Jia, Xiangbin; Liu, Cenying; Ni, Hailun; Yang, Xinyi; Xia, Lu; Chen, Jingjing; Shen, Lu; Li, Ying; Zhao, Rongjuan; Zhao, Wenjing; Peng, Jing; Pan, Qian; Long, Zhigao; Su, Wei; Tan, Jieqiong; Du, Xiaogang; Ke, Xiaoyan; Yao, Meiling; Hu, Zhengmao; Zou, Xiaobing; Zhao, Jingping; Bernier, Raphael A; Eichler, Evan E; Xia, KunJanuary 2018Not Determined
30563709Create StudyThe Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.Trends in neurosciencesTurner, Tychele N; Eichler, Evan EFebruary 2019Not Determined
30559488Create StudyNeurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.Nature geneticsCoe, Bradley P; Stessman, Holly A F; Sulovari, Arvis; Geisheker, Madeleine R; Bakken, Trygve E; Lake, Allison M; Dougherty, Joseph D; Lein, Ed S; Hormozdiari, Fereydoun; Bernier, Raphael A; Eichler, Evan EJanuary 2019Not Determined
30504930Create StudyGenome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.Genetics in medicine : official journal of the American College of Medical GeneticsGuo, Hui; Duyzend, Michael H; Coe, Bradley P; Baker, Carl; Hoekzema, Kendra; Gerdts, Jennifer; Turner, Tychele N; Zody, Michael C; Beighley, Jennifer S; Murali, Shwetha C; Nelson, Bradley J; University of Washington Center for Mendelian Genomics; Bamshad, Michael J; Nickerson, Deborah A; Bernier, Raphael A; Eichler, Evan EJuly 2019Not Determined
30107084Create StudyThe autism spectrum phenotype in ADNP syndrome.Autism research : official journal of the International Society for Autism ResearchArnett, Anne B; Rhoads, Candace L; Hoekzema, Kendra; Turner, Tychele N; Gerdts, Jennifer; Wallace, Arianne S; Bedrosian-Sermone, Sandra; Eichler, Evan E; Bernier, Raphael ASeptember 2018Not Determined
29724491Create StudyClinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.Biological psychiatryVan Dijck, Anke; Vulto-van Silfhout, Anneke T; Cappuyns, Elisa; van der Werf, Ilse M; Mancini, Grazia M; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; ADNP Consortium; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B A; Küry, Sébastien; Rosenfeld, Jill A; Meuwissen, Marije E; Vandeweyer, Geert; Kooy, R FrankFebruary 2019Not Determined
29656860Create StudyTruncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.American journal of human geneticsCheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J; de Vries, Bert B A; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K; Boycott, Kym M; Person, Richard; Willaert, Rebecca; Eichler, Evan E; Kooy, R Frank; Yang, Yaping; Wu, Joseph C; Lupski, James R; Arnesen, Thomas; Cooper, Gregory M; Chung, Wendy K; Gecz, Jozef; Stessman, Holly A F; Meng, Linyan; Lyon, Gholson JMay 2018Not Determined
29250444Create StudyAssociations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.Autism research and treatmentLuhrs, Kyleen; Ward, Tracey; Hudac, Caitlin M; Gerdts, Jennifer; Stessman, Holly A F; Eichler, Evan E; Bernier, Raphael AJanuary 2017Not Determined
29209020Create StudyA genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.European journal of human genetics : EJHGJansen, Sandra; Hoischen, Alexander; Coe, Bradley P; Carvill, Gemma L; Van Esch, Hilde; Bosch, Daniëlle G M; Andersen, Ulla A; Baker, Carl; Bauters, Marijke; Bernier, Raphael A; van Bon, Bregje W; Claahsen-van der Grinten, Hedi L; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J C; Stumpel, Connie T; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; Vries, Petra de; Witherspoon, Kali; Veltman, Joris A; Brunner, Han G; Mefford, Heather C; Romano, Corrado; Vissers, Lisenka E L M; Eichler, Evan E; de Vries, Bert B AJanuary 2018Not Determined
29179772Create StudyRecurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Genome medicineWilfert, Amy B; Sulovari, Arvis; Turner, Tychele N; Coe, Bradley P; Eichler, Evan ENovember 2017Not Determined
29100089Create StudyDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.American journal of human geneticsKüry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Proietti Onori, Martina; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly A F; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje W M; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen L I; Juusola, Jane; Foss, Kimberly; Enns, Gregory M; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia A L; Hahn, Sihoun; Brownstein, Catherine A; Xia, Fan; Schmitt, Sébastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R; Thies, Jenny; Peart-Vissers, Lisenka E L M; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M; Dubourg, Christèle; Undiagnosed Diseases Network; Tan, Wen-Hann; Verbeek, Nienke E; Granzow, Martin; Santen, Gijs W E; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W; Kleefstra, Tjitske; Cogné, Benjamin; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski, Slavé; Retterer, Kyle; Eichler, Evan E; Rosenfeld, Jill A; Agrawal, Pankaj B; Bézieau, Stéphane; Odent, Sylvie; Elgersma, Ype; Mercier, SandraNovember 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, Rachel K; Turner, Tychele N; Mefford, Heather C; Hudac, Caitlin M; Gerdts, Jennifer; Eichler, Evan E; Bernier, Raphael AJanuary 2017Not Determined
28965761Create StudyGenomic Patterns of De Novo Mutation in Simplex Autism.CellTurner, Tychele N; Coe, Bradley P; Dickel, Diane E; Hoekzema, Kendra; Nelson, Bradley J; Zody, Michael C; Kronenberg, Zev N; Hormozdiari, Fereydoun; Raja, Archana; Pennacchio, Len A; Darnell, Robert B; Eichler, Evan EOctober 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, Anne B; Cairney, Brianna E; Wallace, Arianne S; Gerdts, Jennifer; Turner, Tychele N; Eichler, Evan E; Bernier, Raphael AMarch 2018Not Determined
28628100Create StudyHotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Nature neuroscienceGeisheker, Madeleine R; Heymann, Gabriel; Wang, Tianyun; Coe, Bradley P; Turner, Tychele N; Stessman, Holly A F; Hoekzema, Kendra; Kvarnung, Malin; Shaw, Marie; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Thompson, Elizabeth M; Haan, Eric; Guo, Hui; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Vandeweyer, Geert; Alberti, Antonino; Avola, Emanuela; Vinci, Mirella; Giusto, Stefania; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Michaelson, Jacob J; Sedlacek, Zdenek; Santen, Gijs W E; Peeters, Hilde; Hakonarson, Hakon; Courchesne, Eric; Romano, Corrado; Kooy, R Frank; Bernier, Raphael A; Nordenskjöld, Magnus; Gecz, Jozef; Xia, Kun; Zweifel, Larry S; Eichler, Evan EAugust 2017Relevant
28580430Create StudyThe evolution and population diversity of human-specific segmental duplications.Nature ecology & evolutionDennis, Megan Y; Harshman, Lana; Nelson, Bradley J; Penn, Osnat; Cantsilieris, Stuart; Huddleston, John; Antonacci, Francesca; Penewit, Kelsi; Denman, Laura; Raja, Archana; Baker, Carl; Mark, Kenneth; Malig, Maika; Janke, Nicolette; Espinoza, Claudia; Stessman, Holly A F; Nuttle, Xander; Hoekzema, Kendra; Lindsay-Graves, Tina A; Wilson, Richard K; Eichler, Evan EJanuary 2017Not Determined
28559932Create StudyExploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.Journal of neurodevelopmental disordersHudac, Caitlin M; Stessman, Holly A F; DesChamps, Trent D; Kresse, Anna; Faja, Susan; Neuhaus, Emily; Webb, Sara Jane; Eichler, Evan E; Bernier, Raphael AJanuary 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, Daniel Seung; Burt, Amber A; Ranchalis, Jane E; Wilmot, Beth; Smith, Joshua D; Patterson, Karynne E; Coe, Bradley P; Li, Yatong K; Bamshad, Michael J; Nikolas, Molly; Eichler, Evan E; Swanson, James M; Nigg, Joel T; Nickerson, Deborah A; Jarvik, Gail P; University of Washington Center for Mendelian GenomicsJune 2017Relevant
28191889Study (425)Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Nature geneticsStessman, Holly A F; Xiong, Bo; Coe, Bradley P; Wang, Tianyun; Hoekzema, Kendra; Fenckova, Michaela; Kvarnung, Malin; Gerdts, Jennifer; Trinh, Sandy; Cosemans, Nele; Vives, Laura; Lin, Janice; Turner, Tychele N; Santen, Gijs; Ruivenkamp, Claudia; Kriek, Marjolein; van Haeringen, Arie; Aten, Emmelien; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Haan, Eric; Shaw, Marie; Gecz, Jozef; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Schwartz, Charles; Kooy, R Frank; Vandeweyer, Geert; Helsmoortel, Celine; Romano, Corrado; Alberti, Antonino; Vinci, Mirella; Avola, Emanuela; Giusto, Stefania; Courchesne, Eric; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Amaral, David G; Scheffer, Ingrid E; Delatycki, Martin B; Lockhart, Paul J; Hormozdiari, Fereydoun; Harich, Benjamin; Castells-Nobau, Anna; Xia, Kun; Peeters, Hilde; Nordenskjöld, Magnus; Schenck, Annette; Bernier, Raphael A; Eichler, Evan EApril 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, Holly A F; Willemsen, Marjolein H; Fenckova, Michaela; Penn, Osnat; Hoischen, Alexander; Xiong, Bo; Wang, Tianyun; Hoekzema, Kendra; Vives, Laura; Vogel, Ida; Brunner, Han G; van der Burgt, Ineke; Ockeloen, Charlotte W; Schuurs-Hoeijmakers, Janneke H; Klein Wassink-Ruiter, Jolien S; Stumpel, Connie; Stevens, Servi J C; Vles, Hans S; Marcelis, Carlo M; van Bokhoven, Hans; Cantagrel, Vincent; Colleaux, Laurence; Nicouleau, Michael; Lyonnet, Stanislas; Bernier, Raphael A; Gerdts, Jennifer; Coe, Bradley P; Romano, Corrado; Alberti, Antonino; Grillo, Lucia; Scuderi, Carmela; Nordenskjöld, Magnus; Kvarnung, Malin; Guo, Hui; Xia, Kun; Piton, Amélie; Gerard, Bénédicte; Genevieve, David; Delobel, Bruno; Lehalle, Daphne; Perrin, Laurence; Prieur, Fabienne; Thevenon, Julien; Gecz, Jozef; Shaw, Marie; Pfundt, Rolph; Keren, Boris; Jacquette, Aurelia; Schenck, Annette; Eichler, Evan E; Kleefstra, TjitskeMarch 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, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L MAugust 1, 2016Relevant
26749307Create StudyMaternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.American journal of human geneticsDuyzend, Michael H; Nuttle, Xander; Coe, Bradley P; Baker, Carl; Nickerson, Deborah A; Bernier, Raphael; Eichler, Evan EJanuary 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, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S; Stessman, Holly A; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki M; Mackenzie, Katherine M; Swanson, Phillip D; Tranchant, Christine; Vidailhet, Marie; Winesett, Steven; Trouillard, Oriane; Amendola, Laura M; Dorschner, Michael O; Weiss, Michael; Eichler, Evan E; Torkamani, Ali; Roze, Emmanuel; Bird, Thomas D; Raskind, Wendy HDecember 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, Lot; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot R F; Venselaar, Hanka; Helsmoortel, Céline; Cho, Megan T; Hoischen, Alexander; Vissers, Lisenka E L M; Koemans, Tom S; Wissink-Lindhout, Willemijn; Eichler, Evan E; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Oberndorff, Karin; van Bon, Bregje W M; Shaw, Marie; Gecz, Jozef; Haan, Eric; Bienek, Melanie; Jensen, Corinna; Loeys, Bart L; Van Dijck, Anke; Innes, A Micheil; Racher, Hilary; Vermeer, Sascha; Di Donato, Nataliya; Rump, Andreas; Tatton-Brown, Katrina; Parker, Michael J; Henderson, Alex; Lynch, Sally A; Fryer, Alan; Ross, Alison; Vasudevan, Pradeep; Kini, Usha; Newbury-Ecob, Ruth; Chandler, Kate; Male, Alison; DDD Study; Dijkstra, Sybe; Schieving, Jolanda; Giltay, Jacques; van Gassen, Koen L I; Schuurs-Hoeijmakers, Janneke; Tan, Perciliz L; Pediaditakis, Igor; Haas, Stefan A; Retterer, Kyle; Reed, Patrick; Monaghan, Kristin G; Haverfield, Eden; Natowicz, Marvin; Myers, Angela; Kruer, Michael C; Stein, Quinn; Strauss, Kevin A; Brigatti, Karlla W; Keating, Katherine; Burton, Barbara K; Kim, Katherine H; Charrow, Joel; Norman, Jennifer; Foster-Barber, Audrey; Kline, Antonie D; Kimball, Amy; Zackai, Elaine; Harr, Margaret; Fox, Joyce; McLaughlin, Julie; Lindstrom, Kristin; Haude, Katrina M; van Roozendaal, Kees; Brunner, Han; Chung, Wendy K; Kooy, R Frank; Pfundt, Rolph; Kalscheuer, Vera; Mehta, Sarju G; Katsanis, Nicholas; Kleefstra, TjitskeAugust 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, Niklas; Turner, Tychele N; Baker, Carl; Vives, Laura; Mohajeri, Kiana; Witherspoon, Kali; Raja, Archana; Coe, Bradley P; Stessman, Holly A; He, Zong-Xiao; Leal, Suzanne M; Bernier, Raphael; Eichler, Evan EJune 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, Roger; Earl, Rachel K; Stanberry, Larissa; Hudac, Caitlin M; Montague, Elizabeth; Stewart, Elizabeth; Janko, Imre; Choiniere, John; Broomall, William; Kolker, Natali; Bernier, Raphael A; Kolker, EugeneApril 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, B W M; Coe, B P; Bernier, R; Green, C; Gerdts, J; Witherspoon, K; Kleefstra, T; Willemsen, M H; Kumar, R; Bosco, P; Fichera, M; Li, D; Amaral, D; Cristofoli, F; Peeters, H; Haan, E; Romano, C; Mefford, H C; Scheffer, I; Gecz, J; de Vries, B B A; Eichler, E EJanuary 2016Relevant
25629966Create StudyEpigenetics of autism-related impairment: copy number variation and maternal infection.Journal of developmental and behavioral pediatrics : JDBPMazina, Varvara; Gerdts, Jennifer; Trinh, Sandy; Ankenman, Katy; Ward, Tracey; Dennis, Megan Y; Girirajan, Santhosh; Eichler, Evan E; Bernier, RaphaelFebruary 2015Not Determined
25418537Create StudyRecurrent de novo mutations implicate novel genes underlying simplex autism risk.Nature communicationsO'Roak, B J; Stessman, H A; Boyle, E A; Witherspoon, K T; Martin, B; Lee, C; Vives, L; Baker, C; Hiatt, J B; Nickerson, D A; Bernier, R; Shendure, J; Eichler, E E2014Relevant
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, Ivan; O'Roak, Brian J; Sanders, Stephan J; Ronemus, Michael; Krumm, Niklas; Levy, Dan; Stessman, Holly A; Witherspoon, Kali T; Vives, Laura; Patterson, Karynne E; Smith, Joshua D; Paeper, Bryan; Nickerson, Deborah A; Dea, Jeanselle; Dong, Shan; Gonzalez, Luis E; Mandell, Jeffrey D; Mane, Shrikant M; Murtha, Michael T; Sullivan, Catherine A; Walker, Michael F; Waqar, Zainulabedin; Wei, Liping; Willsey, A Jeremy; Yamrom, Boris; Lee, Yoon-ha; Grabowska, Ewa; Dalkic, Ertugrul; Wang, Zihua; Marks, Steven; Andrews, Peter; Leotta, Anthony; Kendall, Jude; Hakker, Inessa; Rosenbaum, Julie; Ma, Beicong; Rodgers, Linda; Troge, Jennifer; Narzisi, Giuseppe; Yoon, Seungtai; Schatz, Michael C; Ye, Kenny; McCombie, W Richard; Shendure, Jay; Eichler, Evan E; State, Matthew W; Wigler, MichaelNovember 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, Bradley P; Witherspoon, Kali; Rosenfeld, Jill A; van Bon, Bregje W M; Vulto-van Silfhout, Anneke T; Bosco, Paolo; Friend, Kathryn L; Baker, Carl; Buono, Serafino; Vissers, Lisenka E L M; Schuurs-Hoeijmakers, Janneke H; Hoischen, Alex; Pfundt, Rolph; Krumm, Nik; Carvill, Gemma L; Li, Deana; Amaral, David; Brown, Natasha; Lockhart, Paul J; Scheffer, Ingrid E; Alberti, Antonino; Shaw, Marie; Pettinato, Rosa; Tervo, Raymond; de Leeuw, Nicole; Reijnders, Margot R F; Torchia, Beth S; Peeters, Hilde; O'Roak, Brian J; Fichera, Marco; Hehir-Kwa, Jayne Y; Shendure, Jay; Mefford, Heather C; Haan, Eric; Gécz, Jozef; de Vries, Bert B A; Romano, Corrado; Eichler, Evan EOctober 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, Sébastien; Coe, Bradley P; Hersch, Micha; Duyzend, Michael H; Krumm, Niklas; Bergmann, Sven; Beckmann, Jacques S; Rosenfeld, Jill A; Eichler, Evan EMarch 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

NDA Help Center

Collection - Publications

The number of Publications is displayed in parentheses next to the tab name. Clicking on any of the Publication Titles will open the Publication in a new internet browsing tab.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may mark a publication as either Relevant or Not Relevant in the Status column.

Frequently Asked Questions

  • How can I determine if a publication is relevant?
    Publications are considered relevant to a collection when the data shared is directly related to the project or collection.
  • Where does the NDA get the publications?
    PubMed, an online library containing journals, articles, and medical research. Sponsored by NiH and National Library of Medicine (NLM).


  • Create Study
    A link to the Create an NDA Study page that can be clicked to start creating an NDA Study with information such as the title, journal and authors automatically populated.
  • Not Determined Publication
    Indicates that the publication has not yet been reviewed and/or marked as Relevant or Not Relevant so it has not been determined whether an NDA Study is expected.
  • Not Relevant Publication
    A publication that is not based on data related to the aims of the grant/project associated with the Collection or not based on any data such as a review article and, therefore, an NDA Study is not expected to be created.
  • PubMed
    PubMed provides citation information for biomedical and life sciences publications and is managed by the U.S. National Institutes of Health's National Library of Medicine.
  • PubMed ID
    The PUBMed ID is the unique ID number for the publication as recorded in the PubMed database.
  • Relevant Publication
    A publication that is based on data related to the aims of the grant/project associated with the Collection and, therefore, an NDA Study is expected to be created.
Data Expected List: Mandatory Data Structures

These data structures are mandatory for your NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

For NIMH HIV-related research that involves human research participants: Select the dictionary or dictionaries most appropriate for your research. If your research does not require all three data dictionaries, just ignore the ones you do not need. There is no need to delete extra data dictionaries from your NDA Collection. You can adjust the Targeted Enrollment column in the Data Expected tab to “0” for those unnecessary data dictionaries. At least one of the three data dictionaries must have a non-zero value.

Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Research Subject and Pedigree info icon
To create your project's Data Expected list, use the "+New Data Expected" to add or request existing structures and to request new Data Structures that are not in the NDA Data Dictionary.

If the Structure you need already exists, locate it and specify your dates and enrollment when adding it to your Data Expected list. If you require changes to the Structure you need, select the indicator stating "No, it requires changes to meet research needs," and upload a file containing your requested changes.

If the structure you need is not yet defined in the Data Dictionary, you can select "Upload Definition" and attach the necessary materials to request its creation.

When selecting the expected dates for your data, make sure to follow the standard Data Sharing Regimen and choose dates within the date ranges that correspond to your project start and end dates.

Please visit the Completing Your Data Expected Tutorial for more information.
Data Expected List: Data Structures per Research Aims

These data structures are specific to your research aims and should list all data structures in which data will be collected and submitted for this NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Genomics/omics info icon
ABC Community info icon
ADOS info icon
Delis-Kaplan Executive Function System (D-KEFS) info icon
Expressive Vocabulary Test II (EVT II) info icon
Social Responsiveness Scale (SRS) info icon
Wechsler Abbreviated Scale of Intelligence (WASI) info icon
Social Communication Questionnaire (SCQ) info icon
Child Behavior Checklist (CBCL) info icon
DAS-II: Differential Ability Scales info icon
Peabody Picture Vocabulary Test, Fourth Edition info icon
Physical Exam info icon
Handedness Form info icon
Adult Behavior Checklist (ABCL) info icon
Movement Assessment Battery for Children - 2 info icon
Structure not yet defined
No Status history for this Data Expected has been recorded yet

NDA Help Center

Collection - Data Expected

The Data Expected tab displays the list of all data that NDA expects to receive in association with the Collection as defined by the contributing researcher, as well as the dates for the expected initial upload of the data, and when it is first expected to be shared, or with the research community. Above the primary table of Data Expected, any publications determined to be relevant to the data within the Collection are also displayed - members of the contributing research group can use these to define NDA Studies, connecting those papers to underlying data in NDA.

The tab is used both as a reference for those accessing shared data, providing information on what is expected and when it will be shared, and as the primary tracking mechanism for contributing projects. It is used by both contributing primary researchers, secondary researchers, and NIH Program and Grants Management staff.

Researchers who are starting their project need to update their Data Expected list to include all the Data Structures they are collecting under their grant and set their initial submission and sharing schedule according to the NDA Data Sharing Regimen.

To add existing Data Structures from the Data Dictionary, to request new Data Structure that are not in the Dictionary, or to request changes to existing Data Structures, click "+New Data Expected".

For step-by-step instructions on how to add existing Data Structures, request changes to an existing Structure, or request a new Data Structure, please visit the Completing Your Data Expected Tutorial.

If you are a contributing researcher creating this list for the first time, or making changes to the list as your project progress, please note the following:

  • Although items you add to the list and changes you make are displayed, they are not committed to the system until you Save the entire page using the "Save" button at the bottom of your screen. Please Save after every change to ensure none of your work is lost.
  • If you attempt to add a new structure, the title you provide must be unique - if another structure exists with the same name your change will fail.
  • Adding a new structure to this list is the only way to request the creation of a new Data Dictionary definition.

Frequently Asked Questions

  • What is an NDA Data Structure?
    An NDA Data Structure is comprised of multiple Data Elements to make up an electronic definition of an assessment, measure, questionnaire, etc will have a corresponding Data Structure.
  • What is the NDA Data Dictionary?
    The NDA Data Dictionary is comprised of electronic definitions known as Data Structures.


  • Analyzed Data
    Data specific to the primary aims of the research being conducted (e.g. outcome measures, other dependent variables, observations, laboratory results, analyzed images, volumetric data, etc.) including processed images.
  • Data Item
    Items listed on the Data Expected list in the Collection which may be an individual and discrete Data Structure, Data Structure Category, or Data Structure Group.
  • Data Structure
    A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
  • Data Structure Category
    An NDA term describing the affiliation of a Data Structure to a Category, which may be disease/disorder or diagnosis related (Depression, ADHD, Psychosis), specific to data type (MRI, eye tracking, omics), or type of data (physical exam, IQ).
  • Data Structure Group
    A Data Item listed on the Data Expected tab of a Collection that indicates a group of Data Structures (e.g., ADOS or SCID) for which data may be submitted instead of a specific Data Structure identified by version, module, edition, etc. For example, the ADOS Data Structure Category includes every ADOS Data Structure such as ADOS Module 1, ADOS Module 2, ADOS Module 1 - 2nd Edition, etc. The SCID Data Structure Group includes every SCID Data Structure such as SCID Mania, SCID V Mania, SCID PTSD, SCID-V Diagnosis, and more.
  • Evaluated Data
    A new Data Structure category, Evaluated Data is analyzed data resulting from the use of computational pipelines in the Cloud and can be uploaded directly back to a miNDAR database. Evaluated Data is expected to be listed as a Data Item in the Collection's Data Expected Tab.
  • Imaging Data
    Imaging+ is an NDA term which encompasses all imaging related data including, but not limited to, images (DTI, MRI, PET, Structural, Spectroscopy, etc.) as well as neurosignal data (EEG, fMRI, MEG, EGG, eye tracking, etc.) and Evaluated Data.
  • Initial Share Date
    Initial Submission and Initial Share dates should be populated according to the NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data will be shared with authorized users upon publication (via an NDA Study) or 1-2 years after the grant end date specified on the first Notice of Award, as defined in the applicable Data Sharing Terms and Conditions.
  • Initial Submission Date
    Initial Submission and Initial Share dates should be populated according to these NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data for all subjects is not expected on the Initial Submission Date and modifications may be made as necessary based on the project's conduct.
  • Research Subject and Pedigree
    An NDA created Data Structure used to convey basic information about the subject such as demographics, pedigree (links family GUIDs), diagnosis/phenotype, and sample location that are critical to allow for easier querying of shared data.
  • Submission Cycle
    The NDA has two Submission Cycles per year - January 15 and July 15.
  • Submission Exemption
    An interface to notify NDA that data may not be submitted during the upcoming/current submission cycle.

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
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsAlthough de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,600 NDD patients identified 21 new patients with identical missense mutations. One recurrent site (p.Ala636Thr) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology.18024/18812Primary AnalysisShared
Examining the validity of the use of ratio IQs in psychological assessments IQ tests are amongst the most used psychological assessments, both in research and clinical settings. For participants who cannot complete IQ tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ, especially in large research databases to avoid missing data points. However, because it has never been scientifically validated, this practice is questionable. In the era of big data, it is important to examine the validity of this widely used practice. In this paper, we use the case of autism to examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which ages, FSIQ scores and subtests raw scores were available for autistic participants between 2 and 17 years old. The IQ tests included were the MSEL (N=12033), DAS-II early years (N=1270), DAS-II school age (N=2848), WISC-IV (N=471) and WISC-V (N=129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed two linear regressions to respectively assess the effect of FSIQ and of age on the DSC for each IQ test, followed by additional analyses comparing age subgroups as well as FSIQ subgroups on DSC. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. These results question the validity of this widely used alternative scoring method, especially for individuals at the extremes of the normal distribution, with whom RIQs are most often employed.106/17423Secondary AnalysisShared
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
Investigating autism etiology and heterogeneity by decision tree algorithmAutism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism. 60/3382Secondary AnalysisShared
Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findingsFemales with autism spectrum disorder (ASD) have been long overlooked in neuroscience research, but emerging evidence suggests they show distinct phenotypic trajectories and age-related brain differences. Sex-related biological factors (e.g., hormones, genes) may play a role in ASD etiology and have been shown to influence neurodevelopmental trajectories. Thus, a lifespan approach is warranted to understand brain-based sex differences in ASD. This systematic review on MRI-based sex differences in ASD was conducted to elucidate variations across the lifespan and inform biomarker discovery of ASD in females. We identified articles through two database searches. Fifty studies met criteria and underwent integrative review. We found that regions expressing replicable sex-by-diagnosis differences across studies overlapped with regions showing sex differences in neurotypical (NT) cohorts, in particular regions showing NT male>female volumes. Furthermore, studies investigating age-related brain differences across a broad age-span suggest distinct neurodevelopmental patterns in females with ASD. Qualitative comparison across youth and adult studies also supported this hypothesis. However, many studies collapsed across age, which may mask differences. Furthermore, accumulating evidence supports the female protective effect in ASD, although only one study examined brain circuits implicated in “protection.” When synthesized with the broader literature, brain-based sex differences in ASD may come from various sources, including genetic and endocrine processes involved in brain “masculinization” and “feminization” across early development, puberty, and other lifespan windows of hormonal transition. Furthermore, sex-related biology may interact with peripheral processes, in particular the stress axis and brain arousal system, to produce distinct neurodevelopmental patterns in males and females with ASD. Future research on neuroimaging-based sex differences in ASD would benefit from a lifespan approach in well-controlled and multivariate studies. Possible relationships between behavior, sex hormones, and brain development in ASD remain largely unexamined.25/759Secondary AnalysisShared
* Data not on individual level

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