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.

Use/Modify Existing Data Structure

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Targeted Enrollment:

Initial Submission Date:

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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]

Unable to change collection phase where targeted enrollment is less than 90%

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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Sporadic Mutations and Autism Spectrum Disorders #2093

General
Experiments (1)
Shared Data
Publications (120)
Data Expected (16)
Associated Studies (8)

Collection Title	Collection Investigators	Collection Description
Collection Title:	Sporadic Mutations and Autism Spectrum Disorders
Collection Investigators:	Evan E Eichler
Collection Description:	Sporadic Mutations and Autism Spectrum Disorders
Data Repository:	NIMH Data Archive
Permission Group:
Collection Creation Date:	06/29/2014
Collection Phase:	Funding Completed
Collection Sub-Phase:	Close Out
Blinded Clinical Trial:	No
Total Funded Amount:	$3,357,802.00
Subjects Shared:	11,252
Collection DOI:	10.15154/xhv5-9y48

{"values":[]}

{"values":[["Autism Spectrum Affected",25],["Autism Spectrum Severely Affected",45],["Autism Spectrum Mildly Affected",2],["Not Defined",2]]}

Loading Chart...

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
R01MH101221-01	Sporadic Mutations and Autism Spectrum Disorders	08/01/2013	03/31/2017	12/31/2020	54	110	UNIVERSITY OF WASHINGTON	$3,357,802.00

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
586	MIP sequencing	01/09/2017	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
Aberrant Behavior Checklist (ABC) - Community	Clinical Assessments	86
Adult Behavior Check List	Clinical Assessments	13
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1	Clinical Assessments	67
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2	Clinical Assessments	29
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3	Clinical Assessments	35
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4	Clinical Assessments	5
Child Behavior Checklist (CBCL) 1-5	Clinical Assessments	48
Child Behavior Checklist (CBCL) 6-18	Clinical Assessments	100
DAS-II: Differential Ability Scales 2nd Ed. School Age	Clinical Assessments	49
DAS-II:Differential Ability Scales 2nd Ed. Early Years	Clinical Assessments	60
Delis-Kaplan Executive Function System	Clinical Assessments	37
Edinburgh Handedness Inventory	Clinical Assessments	154
Expressive Vocabulary Test	Clinical Assessments	79
Genomics Sample	Genomics	5
Genomics Subject	Genomics	11111
Height and Weight	Clinical Assessments	133
Movement Assessment Battery for Children - 2	Clinical Assessments	48
Peabody Picture Vocabulary Test, Fourth Edition-Form A	Clinical Assessments	97
Purdue Pegboard	Clinical Assessments	80
Research Subject	Clinical Assessments	166
SRS-2. Adult, Preschool and School Age	Clinical Assessments	158
Social Communication Questionnaire (SCQ) - Lifetime	Clinical Assessments	84
WASI-2	Clinical Assessments	10

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
41803180	Create Study	Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.	Nature communications	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	March 9, 2026	Not Determined
41709284	Create Study	A novel spliceosomopathy caused by de novo SF3B3 variants.	Genome medicine	Musante, Luciana; Janos, Pavel; Pianigiani, Giulia; Cappelli, Sara; Longo, Alessandra; Alves, Carolina; Schwaibold, Eva Mc; Wagner, Matias; Costain, Gregory; Fridriksdottir, Run; Stefansson, Kari; Sulem, Patrick; Lichtenbelt, Klaske D; van Binsbergen, Ellen; van Jaarsveld, Richard H; Brusco, Alfredo; Pavinato, Lisa; Biamino, Elisa; Spano, Alessandra; Hildebrandt, Clara C; Chan, Yee-Ming; Groopman, Emily; Berkenstadt, Michal; Koboldt, Daniel; Williamson, Rachel; Brunner, Han G; Vissers, Lisenka Elm; Torring, Pernille M; Hao, Qin; Gelb, Bruce D; Goldmuntz, Elizabeth; Reed, Kristen; Bedoukian, Emma C; Vecchio, Davide; Salzano, Emanuela; Piccione, Maria; Zanus, Caterina; Mio, Catia; Eichler, Evan E; Wang, Tianyun; Patterson, Wesley G; Butler, Kameryn M; Piotrowski, Mattie; Mercier, Sandra; Cogné, Benjamin; Wentzensen, Ingrid M; Buratti, Emanuele; Magistrato, Alessandra; Faletra, Flavio	February 19, 2026	Not Determined
41660240	Create Study	Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells.	iScience	Balzano, Elisa; Twayana, Shyam; Kosiyatrakul, Settapong T; Logsdon, Glennis A; Thakur, Bhushan L; Eichler, Evan E; Bohl, Bettina; Koch, Philipp; Sidoli, Simone; Kumari, Anupama; Munson, Katherine M; Hoekzema, Kendra; Aladjem, Mirit I; Schildkraut, Carl L	February 20, 2026	Not Determined
41577710	Create Study	Using the linear references from the pangenome to discover missing autism variants.	Nature communications	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	January 23, 2026	Not Determined
41298377	Create Study	Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.	Nature communications	Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke	November 26, 2025	Not Determined
40950053	Create Study	Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.	bioRxiv : the preprint server for biology	Hennick, Kelsey; Sui, Yang; Karunakaran, Druha; Nicollela, Ally; Leonard, Rachel; Meyer-Schuman, Rebecca; Berk-Rauch, Hanna; Wang, Tianyun; Chakravarti, Aravinda; Zoghbi, Huda Y; Eichler, Evan E; Nowakowski, Tomasz J	September 4, 2025	Not Determined
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

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	15,291	05/15/2017	5	05/15/2017	5	Approved
Research Subject and Pedigree	90	07/15/2014	11,270	11/15/2014	11,247	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
ABC Community	90	01/01/2015	86	05/15/2015	86	Approved
ADOS	85	01/01/2015	141	05/15/2015	136	Approved
Delis-Kaplan Executive Function System (D-KEFS)	15	01/01/2015	37	05/15/2015	37	Approved
Expressive Vocabulary Test II (EVT II)	70	01/01/2015	81	05/15/2015	79	Approved
Social Responsiveness Scale (SRS)	70	01/01/2015	177	05/15/2015	158	Approved
Wechsler Abbreviated Scale of Intelligence (WASI)	90	01/01/2015	12	05/15/2015	10	Approved
Social Communication Questionnaire (SCQ)	70	01/01/2015	84	05/15/2015	84	Approved
Child Behavior Checklist (CBCL)	70	01/01/2015	163	05/15/2015	148	Approved
DAS-II: Differential Ability Scales	70	01/01/2015	106	05/15/2015	106	Approved
Peabody Picture Vocabulary Test, Fourth Edition	70	01/01/2015	99	05/15/2015	97	Approved
Physical Exam	70	01/01/2015	182	05/15/2015	165	Approved
Handedness Form	54	05/15/2017	82	05/15/2017	80	Approved
Adult Behavior Checklist (ABCL)	10	01/01/2015	15	05/15/2015	13	Approved
Movement Assessment Battery for Children - 2	20	07/15/2014	48	11/15/2014	48	Approved

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
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains	10.15154/1361507	Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,600 NDD patients identified 21 new patients with identical missense mutations. One recurrent site (p.Ala636Thr) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology.	18024/18812	Primary Analysis	Shared
Examining the validity of the use of ratio IQs in psychological assessments	10.15154/1522624	IQ tests are amongst the most used psychological assessments, both in research and clinical settings. For participants who cannot complete IQ tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ, especially in large research databases to avoid missing data points. However, because it has never been scientifically validated, this practice is questionable. In the era of big data, it is important to examine the validity of this widely used practice. In this paper, we use the case of autism to examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which ages, FSIQ scores and subtests raw scores were available for autistic participants between 2 and 17 years old. The IQ tests included were the MSEL (N=12033), DAS-II early years (N=1270), DAS-II school age (N=2848), WISC-IV (N=471) and WISC-V (N=129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed two linear regressions to respectively assess the effect of FSIQ and of age on the DSC for each IQ test, followed by additional analyses comparing age subgroups as well as FSIQ subgroups on DSC. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. These results question the validity of this widely used alternative scoring method, especially for individuals at the extremes of the normal distribution, with whom RIQs are most often employed.	106/17423	Secondary Analysis	Shared
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases	10.15154/1340671	Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 patients and >2,867 controls. We report 91 genes with an excess of de novo mutations or private disruptive mutations in 5.7% of patients, including 38 novel NDD genes. Drosophila functional assays of a subset bolster their involvement in NDDs. We identify 25 genes that show a bias for autism versus intellectual disability and highlight a network associated with high-functioning autism (FSIQ>100). Clinical follow-up for NAA15, KMT5B, and ASH1L reveals novel syndromic and non-syndromic forms of disease. [Note: Upload of individual sample-level raw data files is ongoing and expected to be completed by 02/28/2017.]	15291/15561	Primary Analysis	Shared
The evolution and population diversity of human-specific segmental duplications	10.15154/1338620	Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (n=80 genes/33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed “core duplicons”, and evolved primarily in an interspersed inverted orientation. In addition to Homo sapiens-specific gene expansions (e.g., TCAF1/2), we highlight ten gene families (e.g., ARHGAP11B and SRGAP2C) where copy number never returns to the ancestral state, there is evidence of mRNA splicing, and no common gene-disruptive mutations are observed in the general population. Such duplicates are candidates for the evolution of human-specific adaptive traits.	4623/6360	Primary Analysis	Shared
Examining Diagnostic Trends and Gender Differences in the ADOS-II	10.15154/jxd2-vw05	Approximately 3–4 boys for every girl meet the clinical criteria for autism in studies of community diagnostic patterns and studies of autism using samples of convenience. However, girls with autism have been hypothesized to be underdiagnosed, possibly because they may present with differing symptom profiles as compared to boys. This secondary data analysis used the National Database of Autism Research (NDAR) to examine how gender and symptom profiles are associated with one another in a gold standard assessment of autism symptoms, the Autism Diagnostic Observation Schedule II (ADOS-II; Lord, C., Luyster, R., Guthrie, W., & Pickles A. (2012a). Patterns of developmental trajectories in toddlers with autism spectrum disorder. Journal of Consulting and Clinical Psychology, 80(3):477–489. https://doi.org/10.1037/a0027214. Epub 2012 Apr 16. PMID: 22506796, PMCID: PMC3365612). ADOS-II scores from 6183 children ages 6–14 years from 78 different studies in the NDAR indicated that gender was a significant predictor of total algorithm, restrictive and repetitive behavioral, and social communicative difficulties composite severity scores. These findings suggest that gender differences in ADOS scores are common in many samples and may reflect on current diagnostic practices.	59/5615	Secondary Analysis	Shared
Gender Differences: Confirmatory Factor Analysis of the ADOS-II	10.15154/4sxe-qh09	Purpose Recent research has suggested that autism may present differently in girls compared to boys, encouraging the exploration of a sex-differential diagnostic criteria. Gender differences in diagnostic assessments have been shown on the ADOS-II, such that, on average, females score significantly lower than males on all scales and are less likely to show atypicality on most items related to social communicative difficulties. Yet, gender differences in the latent structure of instruments like the ADOS-II have not been examined systematically. Methods As such, this secondary data analysis examined 4,100 youth diagnosed with autism (Mage = 9.9, 813 female & 3287 male) examined item response trends by gender on the ADOS-II Module 3. Results Multi-Group Confirmatory Factor Analysis results show that the factor loadings of four ADOS-II items differ across the genders. One SCD item and one RRB item are strongly related to the latent factor in the female group, while two RRB items have larger factor loadings in the male group. Conclusion The assumption of an identical latent factor structure for the ADOS-II Module 3 for males and females might not be justifiable. Possible diagnostic implications are discussed.	59/5615	Secondary Analysis	Shared
Investigating autism etiology and heterogeneity by decision tree algorithm	10.15154/1518655	Autism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism.	60/3382	Secondary Analysis	Shared
Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findings	10.15154/1522486	Females with autism spectrum disorder (ASD) have been long overlooked in neuroscience research, but emerging evidence suggests they show distinct phenotypic trajectories and age-related brain differences. Sex-related biological factors (e.g., hormones, genes) may play a role in ASD etiology and have been shown to influence neurodevelopmental trajectories. Thus, a lifespan approach is warranted to understand brain-based sex differences in ASD. This systematic review on MRI-based sex differences in ASD was conducted to elucidate variations across the lifespan and inform biomarker discovery of ASD in females. We identified articles through two database searches. Fifty studies met criteria and underwent integrative review. We found that regions expressing replicable sex-by-diagnosis differences across studies overlapped with regions showing sex differences in neurotypical (NT) cohorts, in particular regions showing NT male>female volumes. Furthermore, studies investigating age-related brain differences across a broad age-span suggest distinct neurodevelopmental patterns in females with ASD. Qualitative comparison across youth and adult studies also supported this hypothesis. However, many studies collapsed across age, which may mask differences. Furthermore, accumulating evidence supports the female protective effect in ASD, although only one study examined brain circuits implicated in “protection.” When synthesized with the broader literature, brain-based sex differences in ASD may come from various sources, including genetic and endocrine processes involved in brain “masculinization” and “feminization” across early development, puberty, and other lifespan windows of hormonal transition. Furthermore, sex-related biology may interact with peripheral processes, in particular the stress axis and brain arousal system, to produce distinct neurodevelopmental patterns in males and females with ASD. Future research on neuroimaging-based sex differences in ASD would benefit from a lifespan approach in well-controlled and multivariate studies. Possible relationships between behavior, sex hormones, and brain development in ASD remain largely unexamined.	25/759	Secondary Analysis	Shared

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