NIMH Data Archive - Data

Genomics

Neuroimaging

Phenotype¹

New Trial
Clinical Trial

¹ Numbers reported are subjects by age

New Project
Grant/Project Number

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

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.

Select	Experiment Id	Experiment Name	Experiment Type	Created On

24	HI-NGS_R1	Omics	02/16/2011
475	MB1-10 (CHOP)	Omics	06/07/2016
490	Discovery and CRISPR validation of genetic factors associated with antipsychotic-induced weight gain and cardiometabolic risk	Omics	07/07/2016
501	PharmacoBOLD Resting State	fMRI	07/27/2016
506	PVPREF	Omics	08/05/2016
509	ABC-CT Resting v2	EEG	08/18/2016
13	Comparison of FI expression in Autistic and Neurotypical Homo Sapiens	Omics	12/28/2010
18	AGRE/Broad Affymetrix 5.0 Genotype Experiment	Omics	01/06/2011
22	Stitching PCR Sequencing	Omics	02/14/2011
26	ASD_Methylation	Omics	03/01/2011
29	Microarray family 03 (father, mother, sibling)	Omics	03/24/2011
37	Standard paired-end sequencing of BCRs	Omics	04/19/2011
38	Illumina Mate-Pair BCR sequencing	Omics	04/19/2011
39	Custom Jumping Libraries	Omics	04/19/2011
40	Custom CapBP	Omics	04/19/2011
41	Immunofluorescence	Omics	05/11/2011
43	Autism brain sample genotyping, Illumina	Omics	05/16/2011
47	ARRA Autism Sequencing Collaboration at Baylor. SOLiD 4 System	Omics	08/01/2011
53	AGRE Omni1-quad	Omics	10/11/2011
59	AGP genotyping	Omics	04/03/2012
60	Ultradeep 454 sequencing of synaptic genes from postmortem cerebella of individuals with ASD and neurotypical controls	Omics	06/23/2012
63	Microemulsion PCR and Targeted Resequencing for Variant Detection in ASD	Omics	07/20/2012
76	Whole Genome Sequencing in Autism Families	Omics	01/03/2013
519	Resting	fMRI	11/08/2016
90	Genotyped IAN Samples	Omics	07/09/2013
91	NJLAGS Axiom Genotyping Array	Omics	07/16/2013
93	AGP genotyping (CNV)	Omics	09/06/2013
106	Longitudinal Sleep Study. H20 200. Channel set 2	EEG	11/07/2013
107	Longitudinal Sleep Study. H20 200. Channel set 3	EEG	11/07/2013
108	Longitudinal Sleep Study. AURA 200	EEG	11/07/2013
105	Longitudinal Sleep Study. H20 200. Channel set 1	EEG	11/07/2013
109	Longitudinal Sleep Study. AURA 400	EEG	11/07/2013
116	Gene Expression Analysis WG-6	Omics	01/07/2014
131	Jeste Lab UCLA ACEii: Charlie Brown and Sesame Street - Project 1	Eye Tracking	02/27/2014
132	Jeste Lab UCLA ACEii: Animacy - Project 1	Eye Tracking	02/27/2014
133	Jeste Lab UCLA ACEii: Mom Stranger - Project 2	Eye Tracking	02/27/2014
134	Jeste Lab UCLA ACEii: Face Emotion - Project 3	Eye Tracking	02/27/2014
145	AGRE/FMR1_Illumina.JHU	Omics	04/14/2014
146	AGRE/MECP2_Sanger.JHU	Omics	04/14/2014
147	AGRE/MECP2_Junior.JHU	Omics	04/14/2014
151	Candidate Gene Identification in familial Autism	Omics	06/09/2014
152	NJLAGS Whole Genome Sequencing	Omics	07/01/2014
154	Math Autism Study - Vinod Menon	fMRI	07/15/2014
155	Resting	fMRI	07/25/2014
156	Speech	fMRI	07/25/2014
159	Emotion	fMRI	07/25/2014
160	syllable contrast	EEG	07/29/2014
167	School-age naturalistic stimuli	Eye Tracking	09/19/2014
44	AGRE/Broad Affymetrix 5.0 Genotype Experiment	Omics	06/27/2011
45	Exome Sequencing of 20 Sporadic Cases of Autism Spectrum Disorder	Omics	07/15/2011

Collection - Add Experiment

Add Supporting Documentation

Funding Source:
URL:

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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Data Structures:

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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.

Collection Updated

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]

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You have requested to move the sharing dates for the following assessments:

Data Expected Item	Original Sharing Date	New Sharing Date

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Rare Mutations and Autism Spectrum Disorders #2627

General
Experiments (2)
Shared Data
Publications (82)
Data Expected (2)
Associated Studies (1)

Collection Title	Collection Investigators	Collection Description
Collection Title:	Rare Mutations and Autism Spectrum Disorders
Collection Investigators:	Evan Eichler
Collection Description:	Sporadic point mutations and large copy number variants CNVs contribute significantly to the etiology of autism but most of the genetic architecture has not yet been understood. Most CNVs associated with autism are large and the majority of pathogenic genes have not been proven. The goal of this proposal is to significantly increase the yield of high-impact autism mutations by focusing on the discovery of understudied classes of rare variants from whole-genome sequence data being generated from 35,000 samples from autism families. This proposal focuses on rare, gene-disruptive mutations and leverages the additional sensitivity afforded by whole-genome shotgun sequencing data, novel CNV discovery methods, and particular patterns of gene-disruptive and missense mutation to increase yield of pathogenic mutations. Our target will include the discovery and validation of smaller and more complex structural variants including CNVs, clustered de novo missense mutations, and private, gene-disruptive mutations transmitted preferentially from mothers to sons. We will test these candidates by rapid targeted sequencing in 15,000 additional cases where patient recontact and familial follow-up is possible. We propose to select 10 genes with the highest burden of mutation for further clinical evaluation, phenotypic variability, and comprehensive genetic characterization. This proposal specifically focuses on application of novel genomic methods, recurrent mutations, and inheritance patterns to discover pathogenic variants in order to develop a more sophisticated model to explain the genetic architecture of autism. As part of this effort, we will quantify and compare the risk of different classes of mutation for autism and investigate transmission disequilibrium differences depending on the parent of origin and gender of proband. The end product of this analysis will be the identification and characterization of new classes of highly penetrant genic mutations that contribute significantly to etiology of autism, providing targets for clinical diagnostics and future therapeutics.
Data Repository:	NIMH Data Archive
Permission Group:
Collection Creation Date:	05/15/2017
Collection Phase:	Funding Completed
Collection Sub-Phase:	Close Out
Blinded Clinical Trial:	No
Total Funded Amount:	$3,606,363.00
Subjects Shared:	6,691
Collection DOI:	10.15154/74ez-rv13

{"values":[]}

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Funding Sources:

Funding Source Name	Funding Source URL
NIH - Extramural	None

Supporting Documentation:

Grant Information:

Project Number	Title	Start Date	Original End Date	End Date	Planned Enrollment	Actual Enrollment	Organization	Funds Obligated
R01MH101221-05	Rare Mutations and Autism Spectrum Disorders	04/01/2017	12/31/2020	10/31/2025	270	516	UNIVERSITY OF WASHINGTON	$3,606,363.00

Clinical Trials:

helpcenter.collection.general-tab

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).

Glossary

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.

Contact NDA Help Desk

ID	Name	Created Date	Status	Type
1195	MIP sequencing - ASD10 and Goldplus	01/22/2019	Approved	Omics
1246	MIP sequencing - ASD9	05/03/2019	Approved	Omics

helpcenter.collection.experiments-tab

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.

Glossary

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.

Contact NDA Help Desk

Shared Data:

Title	Type	Number of Subjects
Genomics Sample	Genomics	6666
Genomics Subject	Genomics	25

helpcenter.collection.shared-data-tab

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.

Glossary

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.

Contact NDA Help Desk

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

Publications

Publications relevant to 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 ID	Study	Title	Journal	Authors	Date	Status
40791370	Create Study	Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNA.	bioRxiv : the preprint server for biology	Noyes, Michelle D; Sui, Yang; Kwon, Youngjun; Koundinya, Nidhi; Wong, Isaac; Munson, Katherine M; Hoekzema, Kendra; Kordosky, Jennifer; Garcia, Gage H; Knuth, Jordan; Lewis, Alexandra P; Eichler, Evan E	July 19, 2025	Not Determined
40778144	Create Study	Pangenome discovery of missing autism variants.	medRxiv : the preprint server for health sciences	Sui, Yang; Lin, Jiadong; Noyes, Michelle D; Kwon, Youngjun; Wong, Isaac; Koundinya, Nidhi; Harvey, William T; Wu, Mei; Hoekzema, Kendra; Munson, Katherine M; Garcia, Gage H; Knuth, Jordan; Wertz, Julie; Wang, Tianyun; Hennick, Kelsey; Karunakaran, Druha; Polo Prieto, Rafael A; Meyer-Schuman, Rebecca; Cherry, Fisher; Pehlivan, Davut; Suter, Bernhard; Gustafson, Jonas A; Miller, Danny E; Human Pangenome Reference Consortium (HPRC); Berk-Rauch, Hanna; Nowakowski, Tomasz J; Chakravarti, Aravinda; Zoghbi, Huda Y; Eichler, Evan E	July 22, 2025	Not Determined
40325133	Create Study	Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery.	Nature genetics	Ghorbani, Mohammadmersad; Moosa, Shabir; Siddig, Zenab; Farhad, Radi; Naeem, Haroon; Harvey, William T; Mastrorosa, Francesco Kumara; Munson, Katherine M; Mohamad Razali, Rozaimi; Aliyev, Elbay; Diboun, Ilhame; Abouelhassan, Rawan; Tauro, Melissa; Hassan, Sondoss; Mathew, Rebecca; Al Hashmi, Muna; Mathew, Lisa S; Wang, Kun; Salhab, Abdul Rahman; Vempalli, Fazulur Rehaman; El Khouly, Ahmed; Qatar Genome Program Research Consortium; Alazwani, Iman; Tomei, Sara; Fakhro, Khalid A; Satti, Alia; Benini, Ruba; Rhie, Arang; Eichler, Evan E; Mokrab, Younes	May 1, 2025	Not Determined
40269156	Create Study	Human de novo mutation rates from a four-generation pedigree reference.	Nature	Porubsky, David; Dashnow, Harriet; Sasani, Thomas A; Logsdon, Glennis A; Hallast, Pille; Noyes, Michelle D; Kronenberg, Zev N; Mokveld, Tom; Koundinya, Nidhi; Nolan, Cillian; Steely, Cody J; Guarracino, Andrea; Dolzhenko, Egor; Harvey, William T; Rowell, William J; Grigorev, Kirill; Nicholas, Thomas J; Goldberg, Michael E; Oshima, Keisuke K; Lin, Jiadong; Ebert, Peter; Watkins, W Scott; Leung, Tiffany Y; Hanlon, Vincent C T; McGee, Sean; Pedersen, Brent S; Happ, Hannah C; Jeong, Hyeonsoo; Munson, Katherine M; Hoekzema, Kendra; Chan, Daniel D; Wang, Yanni; Knuth, Jordan; Garcia, Gage H; Fanslow, Cairbre; Lambert, Christine; Lee, Charles; Smith, Joshua D; Levy, Shawn; Mason, Christopher E; Garrison, Erik; Lansdorp, Peter M; Neklason, Deborah W; Jorde, Lynn B; Quinlan, Aaron R; Eberle, Michael A; Eichler, Evan E	July 1, 2025	Not Determined
39840013	Create Study	Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome.	Frontiers in neuroscience	Rea, Hannah M; Webb, Sara Jane; Kurtz-Nelson, Evangeline C; Hudac, Caitlin M; Bernier, Raphael A; Miles, Conor; Earl, Rachel; Whiting, Alana; Eayrs, Curtis; Johansson, Margaret; Wang, Tianyun; Eichler, Evan E; Neuhaus, Emily	January 1, 2024	Not Determined
39669611	Create Study	ARID1B-related disorder in 87 adults: Natural history and self-sustainability.	Genetics in medicine open	van der Sluijs, P J; Gösgens, M; Dingemans, A J M; Striano, P; Riva, A; Mignot, C; Faudet, A; Vasileiou, G; Walther, M; Schrier Vergano, S A; Alders, M; Alkuraya, F S; Alorainy, I; Alsaif, H S; Anderlid, B; Bache, I; van Beek, I; Blanluet, M; van Bon, B W; Brunet, T; Brunner, H; Carriero, M L; Charles, P; Chatron, N; Coccia, E; Dubourg, C; Earl, R K; Eichler, E E; Faivre, L; Foulds, N; Graziano, C; Guerrot, A M; Hashem, M O; Heide, S; Heron, D; Hickey, S E; Hopman, S M J; Kattentidt-Mouravieva, A; Kerkhof, J; Klein Wassink-Ruiter, J S; Kurtz-Nelson, E C; Kušíková, K; Kvarnung, M; Lecoquierre, F; Leszinski, G S; Loberti, L; Magoulas, P L; Mari, F; Maystadt, I; Merla, G; Milunsky, J M; Moortgat, S; Nicolas, G; Leary, M O '; Odent, S; Ozmore, J R; Parbhoo, K; Pfundt, R; Piccione, M; Pinto, A M; Popp, B; Putoux, A; Rehm, H L; Reis, A; Renieri, A; Rosenfeld, J A; Rossi, M; Salzano, E; Saugier-Veber, P; Seri, M; Severi, G; Sonmez, F M; Strobl-Wildemann, G; Stuurman, K E; Uctepe, E; Van Esch, H; Vitetta, G; de Vries, B B A; Wahl, D; Wang, T; Zacher, P; Heitink, K R; Ropers, F G; Steenbeek, D; Rybak, T; Santen, G W E	January 1, 2024	Not Determined
39471229	Create Study	Deficiency of DDX3X results in neurogenesis defects and abnormal behaviors via dysfunction of the Notch signaling.	Proceedings of the National Academy of Sciences of the United States of America	Duan, Weicheng; Huang, Guiyang; Sui, Yang; Wang, Kang; Yu, Yuxin; Chu, Xufeng; Cao, Xu; Chen, Liangpei; Liu, Jiahui; Eichler, Evan E; Xiong, Bo	November 5, 2024	Not Determined
39421454	Create Study	3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.	Genetics in medicine open	Zalusky, Miranda Pg; Gustafson, Jonas A; Bohaczuk, Stephanie C; Mallory, Ben; Reed, Paxton; Wenger, Tara; Beckman, Erika; Chang, Irene J; Paschal, Cate R; Buchan, Jillian G; Lockwood, Christina M; Puia-Dumitrescu, Mihai; Garalde, Daniel R; Guillory, Joseph; Markham, Androo J; Bamshad, Michael J; Eichler, Evan E; Stergachis, Andrew B; Miller, Danny E	January 1, 2024	Not Determined
39301775	Create Study	Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.	Annals of neurology	Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun	September 20, 2024	Not Determined
39080977	Create Study	Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.	Autism research : official journal of the International Society for Autism Research	Hudac, Caitlin M; Dommer, Kelsey; Mahony, Monique; DesChamps, Trent D; Cairney, Brianna; Earl, Rachel; Kurtz-Nelson, Evangeline C; Bradshaw, Jessica; Bernier, Raphael A; Eichler, Evan E; Neuhaus, Emily; Webb, Sara Jane; Shic, Frederick	May 1, 2025	Not Determined
38809474	Create Study	Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes.	Journal of autism and developmental disorders	Benavidez, Hannah R; Johansson, Margaret; Jones, Elizabeth; Rea, Hannah; Kurtz-Nelson, Evangeline C; Miles, Conor; Whiting, Alana; Eayrs, Curtis; Earl, Rachel; Bernier, Raphael A; Eichler, Evan E; Neuhaus, Emily	August 1, 2025	Not Determined
38790065	Create Study	Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms.	Molecular autism	Courchesne, Eric; Taluja, Vani; Nazari, Sanaz; Aamodt, Caitlin M; Pierce, Karen; Duan, Kuaikuai; Stophaeros, Sunny; Lopez, Linda; Barnes, Cynthia Carter; Troxel, Jaden; Campbell, Kathleen; Wang, Tianyun; Hoekzema, Kendra; Eichler, Evan E; Nani, Joao V; Pontes, Wirla; Sanchez, Sandra Sanchez; Lombardo, Michael V; de Souza, Janaina S; Hayashi, Mirian A F; Muotri, Alysson R	May 25, 2024	Not Determined
38622540	Create Study	Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.	Journal of neurodevelopmental disorders	Neuhaus, 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 E	April 15, 2024	Not Determined
38298127	Create Study	Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.	Genetics	Goldberg, Michael E; Noyes, Michelle D; Eichler, Evan E; Quinlan, Aaron R; Harris, Kelley	April 3, 2024	Not Determined
38187618	Create Study	Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.	bioRxiv : the preprint server for biology	Goldberg, Michael E; Noyes, Michelle D; Eichler, Evan E; Quinlan, Aaron R; Harris, Kelley	December 23, 2023	Not Determined
37987233	Create Study	Social 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 Research	Neuhaus, Emily; Bernier, Raphael A; Webb, Sara Jane	January 1, 2024	Not Determined
37497568	Create Study	Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.	Autism research : official journal of the International Society for Autism Research	Kurtz-Nelson, Evangeline C; Rea, Hannah M; Petriceks, Aiva C; Hudac, Caitlin M; Wang, Tianyun; Earl, Rachel K; Bernier, Raphael A; Eichler, Evan E; Neuhaus, Emily	August 1, 2023	Not Determined
37316925	Create Study	Applications of long-read sequencing to Mendelian genetics.	Genome medicine	Mastrorosa, Francesco Kumara; Miller, Danny E; Eichler, Evan E	June 14, 2023	Not Determined
37256937	Create Study	PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.	Science translational medicine	Ebstein, 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, Stéphane	May 31, 2023	Not Determined
37031308	Create Study	Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.	Journal of autism and developmental disorders	Hudac, 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, Emily	June 1, 2024	Not Determined
36924980	Create Study	Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.	Biological psychiatry	Ding, 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, Bo	November 15, 2023	Not Determined
36745127	Create Study	Discovering 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 Genetics	van 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 E	February 1, 2023	Not Determined
36350923	Create Study	Integrated 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 America	Wang, Tianyun; Kim, Chang N; Bakken, Trygve E; Gillentine, Madelyn A; Henning, Barbara; Mao, Yafei; Gilissen, Christian; SPARK Consortium; Nowakowski, Tomasz J; Eichler, Evan E	November 15, 2022	Not Determined
36266569	Create Study	A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years.	Molecular psychiatry	Bao, 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, Eric	February 1, 2023	Not Determined
35982159	Create Study	Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.	Nature genetics	Zhou, 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 K	September 1, 2022	Not Determined
35977029	Create Study	De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.	Science advances	Jia, 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, Hui	August 19, 2022	Not Determined
35917186	Create Study	GIGYF1 disruption associates with autism and impaired IGF-1R signaling.	The Journal of clinical investigation	Chen, 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, Hui	October 3, 2022	Not Determined
35811283	Create Study	Targeted 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 Research	Miller, Danny E; Hanna, Patrick; Galey, Miranda; Reyes, Monica; Linglart, Agnès; Eichler, Evan E; Jüppner, Harald	September 1, 2022	Not Determined
35698786	Create Study	Functional divergence of the two Elongator subcomplexes during neurodevelopment.	EMBO molecular medicine	Gaik, 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, Sebastian	July 7, 2022	Not Determined
35579625	Create Study	Discovering 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 Genetics	van 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 E	August 1, 2022	Not Determined
35534204	Create Study	Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.	Journal of medical genetics	Miller, 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, Junko	May 9, 2022	Not Determined
35430327	Create Study	Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.	European journal of medical genetics	Cingöz, 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 E	June 1, 2022	Not Determined
35410794	Create Study	Rare variants and the oligogenic architecture of autism.	Trends in genetics : TIG	Wang, Tianyun; Zhao, Peiyao A; Eichler, Evan E	September 1, 2022	Not Determined
35290762	Create Study	Familial long-read sequencing increases yield of de novo mutations.	American journal of human genetics	Noyes, 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 E	April 7, 2022	Not Determined
35236119	Create Study	Genes 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 psychiatry	Jacquemont, 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 Network	March 1, 2022	Not Determined
35094443	Create Study	Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.	Human mutation	Gofin, 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 A	April 1, 2022	Not Determined
34633740	Create Study	A family study implicates GBE1 in the etiology of autism spectrum disorder.	Human mutation	Fanjul-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 J	January 1, 2022	Not Determined
34633442	Create Study	Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.	Brain : a journal of neurology	Ahring, 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 S	May 24, 2022	Not Determined
34616060	Create Study	Single-cell epigenomics reveals mechanisms of human cortical development.	Nature	Ziffra, 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 J	October 1, 2021	Not Determined
34312540	Create Study	Recent ultra-rare inherited variants implicate new autism candidate risk genes.	Nature genetics	Wilfert, 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 E	August 1, 2021	Not Determined
34216551	Create Study	Targeted long-read sequencing identifies missing disease-causing variation.	American journal of human genetics	Miller, 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 E	August 5, 2021	Not Determined
34211179	Create Study	Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.	Nature genetics	Cousin, 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 N	July 1, 2021	Not Determined
34148555	Create Study	Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.	Journal of neurodevelopmental disorders	Arnett, Anne B; Wang, Tianyun; Eichler, Evan E; Bernier, Raphael A	June 21, 2021	Not Determined
34088660	Create Study	The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.	Science advances	Coll-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, Annette	June 1, 2021	Not Determined
33998396	Create Study	Sleep Problems in Children with ASD and Gene Disrupting Mutations.	The Journal of genetic psychology	Earl, Rachel K; Ward, Tracey; Gerdts, Jennifer; Eichler, Evan E; Bernier, Raphael A; Hudac, Caitlin M	September 1, 2021	Not Determined
33874999	Create Study	Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.	Genome medicine	Gillentine, 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 E	April 19, 2021	Not Determined
33727758	Create Study	Co-occurring medical conditions among individuals with ASD-associated disruptive mutations.	Children''s health care : journal of the Association for the Care of Children''s Health	Kurtz-Nelson, Evangeline C; Beighley, Jennifer S; Hudac, Caitlin M; Gerdts, Jennifer; Wallace, Arianne S; Hoekzema, Kendra; Eichler, Evan E; Bernier, Raphael A	January 1, 2020	Not Determined
33596411	Create Study	SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.	American journal of human genetics	Radio, 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, Marco	March 4, 2021	Not Determined
33439542	Create Study	Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.	American journal of medical genetics. Part A	Dingemans, 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 A	April 1, 2021	Not Determined
33175317	Create Study	Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.	Journal of autism and developmental disorders	Kurtz-Nelson, Evangeline C; Tham, See Wan; Ahlers, Kaitlyn; Cho, Daniel; Wallace, Arianne S; Eichler, Evan E; Bernier, Raphael A; Earl, Rachel K	September 1, 2021	Not Determined
33157009	Create Study	NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.	American journal of human genetics	Guo, 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, Kun	November 5, 2020	Relevant
33004838	Create Study	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.	Nature communications	Wang, 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 E	October 1, 2020	Relevant
32918531	Create Study	Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.	Autism research : official journal of the International Society for Autism Research	Arnett, Anne B; Beighley, Jennifer S; Kurtz-Nelson, Evangeline C; Hoekzema, Kendra; Wang, Tianyun; Bernier, Raphe A; Eichler, Evan E	October 1, 2020	Not Determined
32359473	Create Study	Insufficient Evidence for "Autism-Specific" Genes.	American journal of human genetics	Myers, 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 H	May 7, 2020	Not Determined
31999386	Create Study	BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.	Human mutation	Scott, 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 A	May 2020	Relevant
31785789	Create Study	Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.	American journal of human genetics	Turner, Tychele N; Wilfert, Amy B; Bakken, Trygve E; Bernier, Raphael A; Pepper, Micah R; Zhang, Zhancheng; Torene, Rebecca I; Retterer, Kyle; Eichler, Evan E	December 2019	Not Determined
31723249	Create Study	De 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 Genetics	Mirzaa, 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 J	March 2020	Relevant
31674007	Create Study	Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.	Clinical genetics	Wu, 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, Kun	February 2020	Not Determined
31616000	Create Study	Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.	Nature communications	Guo, 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 E	October 2019	Relevant
31579823	Create Study	Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.	Science advances	Guo, 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, Kun	September 1, 2019	Relevant
31526516	Create Study	Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.	Biological psychiatry	Beighley, 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 A	January 2020	Relevant
31452935	Create Study	Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.	NPJ genomic medicine	Feliciano, 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 K	January 2019	Not Relevant
31417602	Create Study	Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.	Frontiers in genetics	Nellåker, 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 Consortium	January 2019	Not Determined
31300657	Create Study	AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.	Nature communications	Salpietro, 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, Henry	July 2019	Relevant
31272685	Create Study	Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.	Biological psychiatry	Fenckova, 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, Annette	August 2019	Not Relevant
30970187	Create Study	Molecular Genetic Anatomy and Risk Profile of Hirschsprung''s Disease.	The New England journal of medicine	Tilghman, 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, Aravinda	April 2019	Not Relevant
30827496	Create Study	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.	American journal of human genetics	Cogné, 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 M	March 2019	Relevant
30564305	Create Study	Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.	Molecular autism	Guo, 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, Kun	January 2018	Relevant
30563709	Create Study	The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.	Trends in neurosciences	Turner, Tychele N; Eichler, Evan E	February 2019	Relevant
30559488	Create Study	Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.	Nature genetics	Coe, 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 E	January 2019	Relevant
30504930	Create Study	Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.	Genetics in medicine : official journal of the American College of Medical Genetics	Guo, 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 E	July 2019	Relevant
30107084	Create Study	The autism spectrum phenotype in ADNP syndrome.	Autism research : official journal of the International Society for Autism Research	Arnett, Anne B; Rhoads, Candace L; Hoekzema, Kendra; Turner, Tychele N; Gerdts, Jennifer; Wallace, Arianne S; Bedrosian-Sermone, Sandra; Eichler, Evan E; Bernier, Raphael A	September 2018	Relevant
29724491	Create Study	Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.	Biological psychiatry	Van 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 Frank	February 2019	Relevant
29656860	Create Study	Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.	American journal of human genetics	Cheng, 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 J	May 2018	Relevant
29209020	Create Study	A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.	European journal of human genetics : EJHG	Jansen, 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 A	January 2018	Relevant
29179772	Create Study	Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.	Genome medicine	Wilfert, Amy B; Sulovari, Arvis; Turner, Tychele N; Coe, Bradley P; Eichler, Evan E	November 2017	Relevant
29100089	Create Study	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.	American journal of human genetics	Küry, 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, Sandra	November 2017	Relevant
28965761	Create Study	Genomic Patterns of De Novo Mutation in Simplex Autism.	Cell	Turner, 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 E	October 2017	Relevant
28921525	Create Study	Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk.	Journal of child psychology and psychiatry, and allied disciplines	Arnett, Anne B; Cairney, Brianna E; Wallace, Arianne S; Gerdts, Jennifer; Turner, Tychele N; Eichler, Evan E; Bernier, Raphael A	March 2018	Relevant
28628100	Create Study	Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.	Nature neuroscience	Geisheker, 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 E	August 2017	Relevant
28332277	Create Study	Sequencing 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 Genetics	Kim, 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 Genomics	June 2017	Relevant
28191889	Create Study	Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.	Nature genetics	Stessman, 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 E	April 2017	Relevant

helpcenter.collection.publications-tab

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).

Glossary

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.

Contact NDA Help Desk

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 Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Genomics/omics	18,414	01/15/2018	6,666	05/15/2018	6,666	Approved
Research Subject and Pedigree	15,680	01/15/2018	15,680	05/15/2018	25	Approved

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 Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
No Data Expected

Structure not yet defined

No Status history for this Data Expected has been recorded yet

helpcenter.collection.data-expected-tab

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.

Glossary

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.

Contact NDA Help Desk

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 NameFilter by Study Name	DOIFilter by DOI	AbstractFilter by Abstract	Collection/Study SubjectsFilter by Collection/Study Subjects	Data UsageFilter by Data Usage	StateFilter by State
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders	10.15154/1517561	Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but are not yet significant for case–control mutation burden analysis. Here, we sequenced 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. Combined with published data, we assessed a total of 125 genes in over 16,000 NDD cases and compared the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach exome-wide significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluated DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes are enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); 61 reach exome-wide significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven NDD risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.	18414/21543	Primary Analysis	Shared

* Data not on individual level

helpcenter.collection.associated-studies-tab

Collection - Associated Studies

Clicking on the Study Title will open the study details in a new internet browser tab. The Abstract is available for viewing, providing the background explanation of the study, as provided by the Collection Owner.

Primary v. Secondary Analysis: The Data Usage column will have one of these two choices. An associated study that is listed as being used for Primary Analysis indicates at least some and potentially all of the data used was originally collected by the creator of the NDA Study. Secondary Analysis indicates the Study owner was not involved in the collection of data, and may be used as supporting data.

Private v. Shared State: Studies that remain private indicate the associated study is only available to users who are able to access the collection. A shared study is accessible to the general public.

Frequently Asked Questions

How do I associate a study to my collection?

Studies are associated to the Collection automatically when the data is defined in the Study.

Glossary

Associated Studies Tab

A tab in a Collection that lists the NDA Studies that have been created using data from that Collection including both Primary and Secondary Analysis NDA Studies.

Contact NDA Help Desk

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