NDA Help Center

Collection - General Tab

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

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

Collection Status: The visibility status of an NDA Collection.  Collection Status can be Shared or Private.  Collections in Shared status are visible to all users and can be searched in the NDA Query Tool. Private Collections are not visible to NDA users.  The Status of an NDA Collection only affects the visibility of information about the Collection (metadata) and does not relate to the status of the record-level research data in the NDA Collection.

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/about/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

  • When a Collection is created by NDA staff and marked as Shared, an email notification will automatically be sent to the PI(s) of the grant(s) associated with the Collection to notify them.

  • 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.

  • 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.

  • 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

  • Number of human subjects enrolled in an NIH-funded clinical research study. The data is provided in annual progress reports.

  • 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. 

  • 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.

  • 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.
  • The Collection State indicates whether the Collection is viewable and searchable.  Collections can be either Private, Shared, or an Ongoing Study.  A Collection that is shared does not necessarily have shared data as the Collection State and state of data are independent of each other.  This field can be edited by Collection users with Administrative Privileges and the Program Officer as listed in eRA (for NIH funded grants). Changes must be saved by clicking the Save button at the bottom of the page.

  • An editable field with the title of the Collection, which is often the title of the grant associated with the Collection.

  • 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.

  • 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.

  • 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. 

  • 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. 

  • 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.

  • 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.

  • 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.  

  • The total number of unique subjects for whom data have been shared and are available for users with permission to access data.

NDA Help Center

Collection - Shared Data Tab

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

  • 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.  

  • 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.

  • 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

  • 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

  • A grouping of data by similar characteristics such as Clinical Assessments, Omics, or Neurosignal data.

  • The term 'Shared' generally means available to others; however, there are some slightly different meanings based on what is Shared.  A Shared NDA Collection or NDA Study is viewable and searchable publicly regardless of the user's role or whether the user has an NDA account.  A Shared Collection or NDA Study does not necessarily mean that data submitted to the Collection or 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, but will only be viewable and accessible if the Collection is Shared.

NDA Help Center

fMRi

fMRI stands for functional magnetic resonance imaging. fMRI tests measure blood flow, providing detailed functional images of the brain or body. 

Acquisition
The Acquisition parameters needed for an experiment include the following:

The name of the experiment is required. Please be concise and specific as possible.
Following experiment name, selection boxes are provided for the Equipment, Software, or other items specific to the experiment type. At least one selection is required for each. If NDAR does not have the appropriate listing, select Add New to add the information provided. Following the selection boxes, provide additional information may be required depending on the experiment type. Any required items are denoted by an asterisk (*).

Block/Event Design
At least one block/event is required. Note that any fields denoted with an asterisk (*) are required. All data must be devoid of personally identifiable data, including the contents of any files attached to the experiment.

Note: To simplify the definition of multiple events, we provide an Import from XML function. This function supports importing data from all three experiment sections (Acquisition, Block/Event Design, and Post Processing), at this time files cannot be uploaded from XML A test format is provided here and our XML Schema Definition (xsd) can be found here.

Post Processing
If you have completed any post-processing on your data, please choose 'Yes' for Has Postprocessing? If not, select 'No'. Depending on this selection the remaining post-processing fields will be enabled (some of which will be required). If you are initially providing data you can select 'No', then return to the experiment to add post-processing steps at a later date when the data are being provided.

Please provide information about post-processing manipulations, i.e. artifact detection algorithms, segmentation used for post data collection, items denoted with an asterisk (*) are required.

Frequently Asked Questions

Glossary

  • This button will add all selections to the Filter Cart. 

  • This button will allow you to copy all of the Experiment details as a template for a new experiment. 

  • Adds all data from the current selections in a Collection or NDA Study to the Filter Cart.

  • This button will allow you to return to the Experiments tab. 

NDA Help Center

Collection - Submissions Tab

Users with permission to access Shared data in the Collection’s assigned Permission Group may use this tab. 

Here, you can:

  • Review your uploads to your Collection, monitor their status, and download them individually to verify their contents.
  • Download individual datasets as a secondary user of the data approved for access.
  • Identify and download datasets containing errors identified by NDA's QA/QC process for review and resolution.
  • Report suspected or discovered Personally Identifiable Information in a submission via the Actions column.

Frequently Asked Questions

Glossary

  • The default view of Datasets within a Collection's Submission tab.

  • A Submission Loading Status on a Collection's Submission Tab that indicates that an issue has prevented the successful loading of the submission.  Users should contact the NDA Help Desk for assistance at NDAHelp@mail.nih.gov.

  • The NDA has two Submission Cycles per year - January 15 and July 15.

  • An interface to notify NDA that data may not be submitted during the upcoming/current submission cycle.  

  • The unique and sequentially assigned ID for a submission (e.g. a discrete upload via the Validation and Upload Tool), which may contain any number of datafiles, Data Structures and/or Data Types, regardless of the Submission Loading Status. A single submission may be divided into multiple Datasets, which are based on Data Type.

  • The total number of unique subjects for whom data have been shared and are available for users with permission to access data.

  • The total number of unique subjects for whom data have been submitted, which includes data in both a Private State and a Shared State.

NDA Help Center

Collection - Publications Tab

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

  • Publications are considered relevant to a collection when the data shared is directly related to the project or collection.

  • PubMed, an online library containing journals, articles, and medical research. Sponsored by NiH and National Library of Medicine (NLM). 

Glossary

  • 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.

  • 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.

  • 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 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.

  • The PUBMed ID is the unique ID number for the publication as recorded in the PubMed database.  

  • 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.

NDA Help Center

EEG

EEG stands for electroencencephalogram and is a test used to measure electrical activity in the brain.

Acquisition
The Acquisition parameters needed for an experiment include the following:

Name of the experiment is required. Please be concise and specific as possible.
Following experiment name, selection boxes are provided for the Equipment, Software, or other items specific to experiment type. At least one selection is required for each. If NDAR does not have the appropriate listing, select Add New to add the information provided. Following the selection boxes, provide additional information may be required depending on experiment type. Any required items are denoted by an asterisk (*).

Block/Event Design
At least one block/event is required. Note that any fields denoted with an asterisk (*) are required. All data must be devoid of personally identifiable data, including the contents of any files attached to the experiment.

Note: To simplify definition of multiple events, we provide an Import from XML function. This function supports importing data from all three experiment sections (Acquisition, Block/Event Design, and Post Processing), at this time files cannot be uploaded from XML A test format is provided here and our XML Schema Definition (xsd) can be found here.

Post Processing
If you have completed any post processing on your data, please choose 'Yes' for Has Postprocessing? If not, select 'No'. Depending on this selection the remaining post processing fields will be enabled (some of which will be required). If you are initially providing data you can select 'No', then return to the experiment to add post processing steps at a later date when the data are being provided.

Please provide information about post-processing manipulations, i.e. artifact detection algorithms, segmentation used for post data collection, items denoted with an asterisk (*) are required.

Frequently Asked Questions

Glossary

  • This button will add all selections to the Filter Cart. 

  • This button will allow you to copy all of the Experiment details as a template for a new experiment. 

  • Adds all data from the current selections in a Collection or NDA Study to the Filter Cart.

  • This button will allow you to return to the Experiments tab. 

NDA Help Center

Collection - Data Expected

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

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

Contributing researchers just getting started on their project will need to define this list by adding all of the items they are collecting under their grant and setting their schedule according to the NDA Data Sharing Regimen. If you fall into this category, you can begin by clicking "add new Data Expected" and selecting which data structures you will be using, saving the page after each change, or requesting new structures by adding and naming a new item, providing any materials NDA Data Dictionary Curators can use to help define your structure. For more information see the tutorial on creating Data Expected.

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

  • 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.

  • The NDA Data Dictionary is comprised of electronic definitions known as Data Structures.

Glossary

  • 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.

  • 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.

  • 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

  • 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).

  • 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. 

  • 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+ 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 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 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.

  • 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.

  • The NDA has two Submission Cycles per year - January 15 and July 15.

  • An interface to notify NDA that data may not be submitted during the upcoming/current submission cycle.  

NDA Help Center

Collection - Permissions Tab

Collection Owners, Program Officers, and users with Administrator privileges may view this tab.

The available permission groups include:

  • Query: This read-only access is generally for NIH Program Officers
  • Submission: This will grant read access and allow the user to upload data and create experiment definitions. This is for the typical contributing personnel member.
  • Administrator: In addition to the access provided to Query and Submission users, Admins can also edit the Collection itself, create or edit the Data Expected list, and edit user permissions. This access is for the PI, data managers, and anyone they wish to delegate this to.

The PI has a special designation as the Collection Owner in addition to administrator access.

Frequently Asked Questions

  • Collection Owners and Admins may assign Collection Privileges to anyone.

  • Yes, you can assign various Privileges to other users with an NDA account.

  • If you are the Collection Owner or have Admin privileges, you can view and make changes to the list of individuals who have access to the Collection on the Collection's Permissions tab.  Information on users who have access to data Shared in your Collection because they were granted access to a Permission Group is not available.

  • Staff/collaborators who are working submitting data to the Collection, checking the quality of the data, and/or analyzing data should have access for the duration of the project until all data have been submitted, NDA Studies have been created for data used in publications, and/or a collaborative relationship with the user exists.  

  • The individual listed as an Investigator on the General tab of the NDA Collection will generally be able to provide a user access to the NDA Collection.  Additional users may also have this ability if granted Administrator access to an NDA Collection; however, these users are not viewable unless your account has access to the NDA Collection.  Given this, it is best to contact the Investigator to request access to the Collection.

  • Privileges that can be assigned to a user include:
    Submission allows a user to submit data to Collection
    Query allows the user to download data from Collection even when in a Private state
    Admin is both the Submission and Query Privilege + the ability to give privileges to other users.

  • You may have staff who are working on the submission of data or other activities associated with data sharing such as the definition of the Data Expected list or NDA Experiment creation.  Also, many projects have multiple performance sites and wish to share data among the site PIs.  Submitting to the NDA facilitates access by all investigators working on a project even before data have been shared with other users.  You can control who gets access to data while in a Private state.

Glossary

  • 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. 

  • 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.

NDA Help Center

Eye Tracking

EyeTracking tests follow the movement of the eye. The visual trajectory or focus can help determine predictions and assist in diagnoses. 

Acquisition
The Acquisition parameters needed for an experiment include the following:

The name of the experiment is required. Please be concise and specific as possible.
Following experiment name, selection boxes are provided for the Equipment, Software, or other items specific to the experiment type. At least one selection is required for each. If NDAR does not have the appropriate listing, select Add New to add the information provided. Following the selection boxes, provide additional information may be required depending on the experiment type. Any required items are denoted by an asterisk (*).

Block/Event Design
At least one block/event is required. Note that any fields denoted with an asterisk (*) are required. All data must be devoid of personally identifiable data, including the contents of any files attached to the experiment.

Note: To simplify the definition of multiple events, we provide an Import from XML function. This function supports importing data from all three experiment sections (Acquisition, Block/Event Design, and Post Processing), at this time files cannot be uploaded from XML A test format is provided here and our XML Schema Definition (xsd) can be found here.

Post Processing
If you have completed any post-processing on your data, please choose 'Yes' for Has Postprocessing? If not, select 'No'. Depending on this selection the remaining post-processing fields will be enabled (some of which will be required). If you are initially providing data you can select 'No', then return to the experiment to add post-processing steps at a later date when the data are being provided.

Please provide information about post-processing manipulations, i.e. artifact detection algorithms, segmentation used for post data collection, items denoted with an asterisk (*) are required.

Frequently Asked Questions

Glossary

  • This button will add all selections to the Filter Cart. 

  • This button will allow you to copy all of the Experiment details as a template for a new experiment. 

  • Adds all data from the current selections in a Collection or NDA Study to the Filter Cart.

  • This button will allow you to return to the Experiments tab. 

NDA Help Center

Collection - Experiments Tab

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

  • 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

  • An Experiment must be Approved before data using the associated Experiment_ID may be uploaded.

  • 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.

NDA Help Center

Omics

Omics is a collective group of technologies, related to a field of study in Biology such as Genomics or proteomics. 

Experiment Parameters

To define an Omics experiment, provide a meaningful name and select a single molecule. The standard molecules are listed. However, if you are doing proteomic or environmental experiments, simply “Add New” and the new selection will be created. Only one value for molecule is permitted.

Next the technology (box 2) associated with the molecule will be presented along with its application. Again, only one selection is possible. If you wish to see all of NDAR’s options for any one box, Select “Show All”.

Platform

Continue to select the Platform (box 3).

Extraction

Next, the Extraction Protocol (box 4) and Kits (box 5) are presented based upon the Molecule selected and the Processing Protocol (box 6) and Kits (box 7) are presented based upon the Molecule and Technology Application (Box 1 and 2)

Processing

Note that for each of these (boxes 4, 5, 6, and 7) multiple selections are possible.

Additional Information

Lastly, the Software (box 8) and Equipment (box 9) is expected.

 

Once saved, the experiment will be associated with the Collection and by using the returned Experiment_ID, the NDA makes it possible to associate the experiment meta data directly with the data from the experiment.

Frequently Asked Questions

Glossary

  • This button will add all selections to the Filter Cart. 

  • This button will allow you to copy all of the Experiment details as a template for a new experiment. 

  • Adds all data from the current selections in a Collection or NDA Study to the Filter Cart.

  • This button will allow you to return to the Experiments tab. 

NDA Help Center

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

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

Glossary

  • 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.

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SelectExperiment IdExperiment NameExperiment Type
Created On
24HI-NGS_R1Omics02/16/2011
475MB1-10 (CHOP)Omics06/07/2016
490Illumina Infinium PsychArray BeadChip AssayOmics07/07/2016
501PharmacoBOLD Resting StatefMRI07/27/2016
506PVPREFOmics08/05/2016
509ABC-CT Resting v2EEG08/18/2016
13Comparison of FI expression in Autistic and Neurotypical Homo SapiensOmics12/28/2010
18AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics01/06/2011
22Stitching PCR SequencingOmics02/14/2011
26ASD_MethylationOmics03/01/2011
29Microarray family 03 (father, mother, sibling)Omics03/24/2011
37Standard paired-end sequencing of BCRsOmics04/19/2011
38Illumina Mate-Pair BCR sequencingOmics04/19/2011
39Custom Jumping LibrariesOmics04/19/2011
40Custom CapBPOmics04/19/2011
41ImmunofluorescenceOmics05/11/2011
43Autism brain sample genotyping, IlluminaOmics05/16/2011
47ARRA Autism Sequencing Collaboration at Baylor. SOLiD 4 SystemOmics08/01/2011
53AGRE Omni1-quadOmics10/11/2011
59AGP genotypingOmics04/03/2012
60Ultradeep 454 sequencing of synaptic genes from postmortem cerebella of individuals with ASD and neurotypical controlsOmics06/23/2012
63Microemulsion PCR and Targeted Resequencing for Variant Detection in ASDOmics07/20/2012
76Whole Genome Sequencing in Autism FamiliesOmics01/03/2013
519RestingfMRI11/08/2016
90Genotyped IAN SamplesOmics07/09/2013
91NJLAGS Axiom Genotyping ArrayOmics07/16/2013
93AGP genotyping (CNV)Omics09/06/2013
106Longitudinal Sleep Study. H20 200. Channel set 2EEG11/07/2013
107Longitudinal Sleep Study. H20 200. Channel set 3EEG11/07/2013
108Longitudinal Sleep Study. AURA 200EEG11/07/2013
105Longitudinal Sleep Study. H20 200. Channel set 1EEG11/07/2013
109Longitudinal Sleep Study. AURA 400EEG11/07/2013
116Gene Expression Analysis WG-6Omics01/07/2014
131Jeste Lab UCLA ACEii: Charlie Brown and Sesame Street - Project 1Eye Tracking02/27/2014
132Jeste Lab UCLA ACEii: Animacy - Project 1Eye Tracking02/27/2014
133Jeste Lab UCLA ACEii: Mom Stranger - Project 2Eye Tracking02/27/2014
134Jeste Lab UCLA ACEii: Face Emotion - Project 3Eye Tracking02/27/2014
145AGRE/FMR1_Illumina.JHUOmics04/14/2014
146AGRE/MECP2_Sanger.JHUOmics04/14/2014
147AGRE/MECP2_Junior.JHUOmics04/14/2014
151Candidate Gene Identification in familial AutismOmics06/09/2014
152NJLAGS Whole Genome SequencingOmics07/01/2014
154Math Autism Study - Vinod MenonfMRI07/15/2014
155RestingfMRI07/25/2014
156SpeechfMRI07/25/2014
159EmotionfMRI07/25/2014
160syllable contrastEEG07/29/2014
167School-age naturalistic stimuliEye Tracking09/19/2014
44AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics06/27/2011
45Exome Sequencing of 20 Sporadic Cases of Autism Spectrum DisorderOmics07/15/2011
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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations
Mustafa Sahin 
Autism spectrum disorder and intellectual disability (ASD/ID) are severe neurodevelopmental conditions with early childhood onset. Advances in genetics have illustrated that ASD/ID represent a spectrum of rare disorders and that mutations in hundreds of genes may result in susceptibility to ASD/ID. This heterogeneity represents significant challenges but at the same time unique opportunities for research in the field of ASD/ID. Many of the genes implicated in ASD/ID appear to converge on a few common pathways, suggesting that there may be a common dysfunction at the cellular or systems level. Deeper understanding of the shared pathophysiology of these diseases may serve as gateways for understanding mechanisms of other causes of ASD/ID and for shared treatment possibilities. Here we focus of three well-established genetic syndromes that are associated with high penetrance for ASD/ID: TSC1/2, PTEN and SHANKS mutations. Specific aims for TSC are: 1) characterize the developmental phenotype of ASD and ID in a large cohort of pediatric patients with TSC; 2) identify biomarkers using advanced MR imaging; 3) establish infrastructure for the collection and storage of human bio-specimens, including genetic material, from TSC patients and their family members with ASD. Specific aims for PTEN are: 1) determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups; 2) identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD; 3) create and maintain a biorepository and linked phenotypic database for PTEN ASD. Specific aims for SHANKS are: 1) characterize PMS using standardized medical, behavioral, and cognitive measures and to track the natural history of the syndrome using repeated longitudinal assessments; 2) identify biomarkers using advanced MR imaging; S) identify genetic factors which contribute to diverse phenotypes in patients with PMS. As detailed in the Resources sections, this Consortium involves experienced physician-researchers from premier academic institutions with strong institutional support, impressive mentors for training of future physician-researchers, and long-standing connections to patient advocacy organizations with extensive recruitment networks.
NIMH Data Archive
01/06/2015
Funding Completed
Data Expected
Shared
No
$6,290,601.00
352
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NIH - Extramural None


U54NS092090-01 Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations 09/30/2014 07/31/2020 350 383 BOSTON CHILDRENS HOSPITAL $6,290,601.00

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ADI-R Regression Supplemental Questionnaire Clinical Assessments 86
Aberrant Behavior Checklist (ABC) - Community Clinical Assessments 288
Autism Clinical Certainty Score Clinical Assessments 291
Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 268
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1 Clinical Assessments 131
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2 Clinical Assessments 63
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 104
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4 Clinical Assessments 33
BRIEF-Preschool Clinical Assessments 49
BRIEF-Self Clinical Assessments 220
Beery VMI Clinical Assessments 214
Child Behavior Checklist (CBCL) 1-5 Clinical Assessments 130
Child Behavior Checklist (CBCL) 6-18 Clinical Assessments 254
Childrens Hospital Medical History Clinical Assessments 275
Classification of Seizures Clinical Assessments 289
Conners Continuous Performance Test Clinical Assessments 113
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 5
DAS-II:Differential Ability Scales 2nd Ed. Early Years Clinical Assessments 12
Developmental Coordination Disorder Questionnaire (DCDQ) Clinical Assessments 318
Diet Log Clinical Assessments 289
Early Infancy History Clinical Assessments 272
Expressive Vocabulary Test Clinical Assessments 239
Family History Clinical Assessments 270
Family Studies Demographics Clinical Assessments 342
Image Imaging 76
Medical History Clinical Assessments 329
Mullen Scales of Early Learning Clinical Assessments 144
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 260
Physical and Neurological Exam Clinical Assessments 323
Prenatal and Early Postnatal History Clinical Assessments 272
Repetitive Behavior Scale - Revised (RBS-R) Clinical Assessments 320
Research Subject Clinical Assessments 286
School Attendance Clinical Assessments 289
Sensory Profile Short Clinical Assessments 318
Social Responsiveness Scale (SRS) - Preschool Version Clinical Assessments 314
Speech and Language Assessment Clinical Assessments 289
Stanford-Binet Intelligence Scales, Fifth Edition (SB5) Clinical Assessments 256
Treatment Intervention Clinical Assessments 289
Vineland-II - Survey Form (2005) Clinical Assessments 312
Wechsler Adult Intelligence Scale Fourth Edition [part 1] Clinical Assessments 4
Wechsler Intelligence Scale for Children - IV [part 2] Clinical Assessments 34
Wechsler Preschool and Primary Scale of Intelligence IV Edition Clinical Assessments 10
Youth Self Report Clinical Assessments 40

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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 IDStudyTitleJournalAuthorsDateStatus
35241692Create StudyDistinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.NPJ genomic medicineYehia, Lamis; Ni, Ying; Sadler, Tammy; Frazier, Thomas W; Eng, CharisMarch 3, 2022Not Determined
34863106Create StudySocial visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.Journal of neurodevelopmental disordersGuillory, Sylvia B; Baskett, Victoria Z; Grosman, Hannah E; McLaughlin, Christopher S; Isenstein, Emily L; Wilkinson, Emma; Weissman, Jordana; Britvan, Bari; Trelles, M Pilar; Halpern, Danielle B; Buxbaum, Joseph D; Siper, Paige M; Wang, A Ting; Kolevzon, Alexander; Foss-Feig, Jennifer HDecember 4, 2021Not Determined
34740315Create StudyParent-reported measure of repetitive behavior in Phelan-McDermid syndrome.Journal of neurodevelopmental disordersSrivastava, Siddharth; Condy, Emma; Carmody, Erin; Filip-Dhima, Rajna; Kapur, Kush; Bernstein, Jonathan A; Berry-Kravis, Elizabeth; Powell, Craig M; Soorya, Latha; Thurm, Audrey; Buxbaum, Joseph D; Sahin, Mustafa; Kolevzon, A Lexander; Developmental Synaptopathies ConsortiumNovember 5, 2021Not Determined
34689816Create StudyMultivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND).Orphanet journal of rare diseasesde Vries, Petrus J; Leclezio, Loren; Gardner-Lubbe, Sugnet; Krueger, Darcy; Sahin, Mustafa; Sparagana, Steven; De Waele, Liesbeth; Jansen, AnnaOctober 24, 2021Not Determined
34668231Create StudyProfile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study.Annals of neurologyCapal, Jamie K; Williams, Marian E; Pearson, Deborah A; Kissinger, Robin; Horn, Paul S; Murray, Donna; Currans, Kristn; Kent, Bridget; Bebin, Martina; Northrup, Hope; Wu, Joyce Y; Sahin, Mustafa; Krueger, Darcy A; TACERN Study GroupDecember 1, 2021Not Determined
34559195Create StudyStrong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.Human molecular geneticsLevy, Tess; Foss-Feig, Jennifer H; Betancur, Catalina; Siper, Paige M; Trelles-Thorne, Maria Del Pilar; Halpern, Danielle; Frank, Yitzchak; Lozano, Reymundo; Layton, Christina; Britvan, Bari; Bernstein, Jonathan A; Buxbaum, Joseph D; Berry-Kravis, Elizabeth; Powell, Craig M; Srivastava, Siddharth; Sahin, Mustafa; Soorya, Latha; Thurm, Audrey; Kolevzon, Alexander; Developmental Synaptopathies ConsortiumFebruary 21, 2022Not Determined
34489750Create StudyPsychiatric Characteristics Across Individuals With PTEN Mutations.Frontiers in psychiatrySteele, Morgan; Uljarević, Mirko; Rached, Gaëlle; Frazier, Thomas W; Phillips, Jennifer M; Libove, Robin A; Busch, Robyn M; Klaas, Patricia; Martinez-Agosto, Julian A; Srivastava, Siddharth; Eng, Charis; Sahin, Mustafa; Hardan, Antonio YJanuary 1, 2021Not Determined
34423884Create StudyToward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.American journal of medical genetics. Part AUljarević, Mirko; Frazier, Thomas W; Rached, Gaëlle; Busch, Robyn M; Klaas, Patricia; Srivastava, Siddharth; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Hardan, Antonio Y; Developmental Synaptopathies ConsortiumNovember 1, 2021Not Determined
34343869Create StudyEpilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex.Pediatric neurologyIhnen, S Katie Z; Capal, Jamie K; Horn, Paul S; Griffith, Molly; Sahin, Mustafa; Bebin, E Martina; Wu, Joyce Y; Northrup, Hope; Krueger, Darcy A; TACERN study groupOctober 1, 2021Not Determined
34342000Create StudyHarnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.Annals of the New York Academy of SciencesCable, Jennifer; Purcell, Ryan H; Robinson, Elise; Vorstman, Jacob A S; Chung, Wendy K; Constantino, John N; Sanders, Stephan J; Sahin, Mustafa; Dolmetsch, Ricardo E; Shah, Bina Maniar; Thurm, Audrey; Martin, Christa L; Bearden, Carrie E; Mulle, Jennifer GDecember 1, 2021Not Determined
34303785Create StudyVisual Evoked Potential Abnormalities in Phelan-McDermid Syndrome.Journal of the American Academy of Child and Adolescent PsychiatrySiper, Paige M; Rowe, Mikaela A; Guillory, Sylvia B; Rouhandeh, Audrey A; George-Jones, Julia L; Tavassoli, Teresa; Lurie, Stacey; Zweifach, Jessica; Weissman, Jordana; Foss-Feig, Jennifer; Halpern, Danielle; Trelles, M Pilar; Mulhern, Maureen S; Brittenham, Chloe; Gordon, James; Zemon, Vance; Buxbaum, Joseph D; Kolevzon, AlexanderApril 1, 2022Not Determined
34250407Create StudyInterplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome.JCO precision oncologyJia, Margaret; Sangwan, Naseer; Tzeng, Alice; Eng, CharisJanuary 1, 2021Not Determined
33910615Create StudyShifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.Molecular autismMariscal, Michael G; Berry-Kravis, Elizabeth; Buxbaum, Joseph D; Ethridge, Lauren E; Filip-Dhima, Rajna; Foss-Feig, Jennifer H; Kolevzon, Alexander; Modi, Meera E; Mosconi, Matthew W; Nelson, Charles A; Powell, Craig M; Siper, Paige M; Soorya, Latha; Thaliath, Andrew; Thurm, Audrey; Zhang, Bo; Sahin, Mustafa; Levin, April R; Developmental Synaptopathies ConsortiumApril 28, 2021Not Determined
33861989Create StudyBalancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders.Stem cell reportsAnderson, Nickesha C; Chen, Pin-Fang; Meganathan, Kesavan; Afshar Saber, Wardiya; Petersen, Andrew J; Bhattacharyya, Anita; Kroll, Kristen L; Sahin, Mustafa; Cross-IDDRC Human Stem Cell Working GroupJune 8, 2021Not Determined
33644493Create StudyA randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations.Contemporary clinical trials communicationsHardan, Antonio Y; Jo, Booil; Frazier, Thomas W; Klaas, Patricia; Busch, Robyn M; Dies, Kira A; Filip-Dhima, Rajna; Snow, Anne V; Eng, Charis; Hanna, Rabi; Zhang, Bo; Sahin, MustafaMarch 1, 2021Not Determined
33595755Create StudyBrief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.Journal of autism and developmental disordersUljarević, Mirko; Frazier, Thomas W; Rached, Gaëlle; Busch, Robyn M; Klaas, Patricia; Srivastava, Siddharth; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Hardan, Antonio Y; Developmental Synaptopathies ConsortiumJanuary 1, 2022Not Determined
33509259Create StudyCross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.Molecular autismFrazier, Thomas W; Jaini, Ritika; Busch, Robyn M; Wolf, Matthew; Sadler, Tammy; Klaas, Patricia; Hardan, Antonio Y; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Developmental Synaptopathies ConsortiumJanuary 28, 2021Not Determined
33410532Create StudyTuber Locations Associated with Infantile Spasms Map to a Common Brain Network.Annals of neurologyCohen, Alexander L; Mulder, Brechtje P F; Prohl, Anna K; Soussand, Louis; Davis, Peter; Kroeck, Mallory R; McManus, Peter; Gholipour, Ali; Scherrer, Benoit; Bebin, E Martina; Wu, Joyce Y; Northrup, Hope; Krueger, Darcy A; Sahin, Mustafa; Warfield, Simon K; Fox, Michael D; Peters, Jurriaan M; Tuberous Sclerosis Complex Autism Center of Excellence Network Study GroupApril 1, 2021Not Determined
33262695Create StudyEditorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders.Frontiers in integrative neuroscienceSahin, Mustafa; Sweeney, John A; Jones, Stephanie RJanuary 1, 2020Not Determined
33011641Create StudyEpilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.Pediatric neurologyFarach, Laura S; Richard, Melissa A; Lupo, Philip J; Sahin, Mustafa; Krueger, Darcy A; Wu, Joyce Y; Bebin, Elizabeth M; Au, Kit Sing; Northrup, Hope; TACERN Study GroupDecember 1, 2020Not Determined
32959437Create StudyPolymicrogyria is Associated With Pathogenic Variants in PTEN.Annals of neurologyShao, Diane D; Achkar, Christelle M; Lai, Abbe; Srivastava, Siddharth; Doan, Ryan N; Rodan, Lance H; Chen, Allen Y; Brain Development Study Group; Poduri, Annapurna; Yang, Edward; Walsh, Christopher ADecember 1, 2020Not Determined
32927206Create StudyScalp EEG interictal high frequency oscillations as an objective biomarker of infantile spasms.Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyNariai, Hiroki; Hussain, Shaun A; Bernardo, Danilo; Motoi, Hirotaka; Sonoda, Masaki; Kuroda, Naoto; Asano, Eishi; Nguyen, Jimmy C; Elashoff, David; Sankar, Raman; Bragin, Anatol; Staba, Richard J; Wu, Joyce YNovember 1, 2020Not Determined
32879655Create StudyLEARNING TO DETECT BRAIN LESIONS FROM NOISY ANNOTATIONS.Proceedings. IEEE International Symposium on Biomedical ImagingKarimi, Davood; Peters, Jurriaan M; Ouaalam, Abdelhakim; Prabhu, Sanjay P; Sahin, Mustafa; Krueger, Darcy A; Kolevzon, Alexander; Eng, Charis; Warfield, Simon K; Gholipour, AliApril 1, 2020Not Determined
32568377Create StudyPTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?Human molecular geneticsYehia, Lamis; Eng, CharisOctober 20, 2020Not Determined
32406614Create StudyPsychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.Autism research : official journal of the International Society for Autism ResearchGergoudis, Kellie; Weinberg, Alan; Templin, Jonathan; Farmer, Cristan; Durkin, Alison; Weissman, Jordana; Siper, Paige; Foss-Feig, Jennifer; Del Pilar Trelles, Maria; Bernstein, Jonathan A; Buxbaum, Joseph D; Berry-Kravis, Elizabeth; Powell, Craig M; Sahin, Mustafa; Soorya, Latha; Thurm, Audrey; Kolevzon, Alexander; Developmental Synaptopathies ConsortiumAugust 2020Not Determined
32169041Create StudyA novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment.BMC medical research methodologyApplequist, Janelle; Burroughs, Cristina; Ramirez Jr, Artemio; Merkel, Peter A; Rothenberg, Marc E; Trapnell, Bruce; Desnick, Robert J; Sahin, Mustafa; Krischer, Jeffrey PMarch 2020Not Determined
32107139Create StudyDiffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.Pediatric neurologyBassell, Julia; Srivastava, Siddharth; Prohl, Anna K; Scherrer, Benoit; Kapur, Kush; Filip-Dhima, Rajna; Berry-Kravis, Elizabeth; Soorya, Latha; Thurm, Audrey; Powell, Craig M; Bernstein, Jonathan A; Buxbaum, Joseph D; Kolevzon, Alexander; Warfield, Simon K; Sahin, Mustafa; Developmental Synaptopathies ConsortiumMay 2020Not Determined
32050889Create StudyPsychiatric illness and regression in individuals with Phelan-McDermid syndrome.Journal of neurodevelopmental disordersKohlenberg TM, Trelles MP, Mclarney B, Betancur C, Thurm A, Kolevzon AFebruary 2020Not Determined
32003824Create StudyCopy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.JAMA network openYehia L, Seyfi M, Niestroj LM, Padmanabhan R, Ni Y, Frazier TW, Lal D, Eng CJanuary 2020Not Determined
31879555Create StudyNeuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autismKolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur CJanuary 2019Not Determined
31864941Create StudyLanguage predictors of autism spectrum disorder in young children with tuberous sclerosis complex.Epilepsy & behavior : E&BSchoenberger, Alexandra; Capal, Jamie K; Ondracek, Annie; Horn, Paul S; Murray, Donna; Byars, Anna Weber; Pearson, Deborah A; Williams, Marian E; Bebin, Martina; Northrup, Hope; Wu, Joyce Y; Sahin, Mustafa; Krueger, Darcy AFebruary 2020Not Determined
31812987Create StudyThe Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex.Cerebral cortex (New York, N.Y. : 1991)Scherrer, Benoit; Prohl, Anna K; Taquet, Maxime; Kapur, Kush; Peters, Jurriaan M; Tomas-Fernandez, Xavier; Davis, Peter E; M Bebin, Elizabeth; Krueger, Darcy A; Northrup, Hope; Y Wu, Joyce; Sahin, Mustafa; Warfield, Simon KApril 14, 2020Not Determined
31594918Create StudyNeurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN.Translational psychiatryBusch, Robyn M; Srivastava, Siddharth; Hogue, Olivia; Frazier, Thomas W; Klaas, Patricia; Hardan, Antonio; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Developmental Synaptopathies ConsortiumOctober 2019Relevant
31569042Create StudyProspective observational study: Fast ripple localization delineates the epileptogenic zone.Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyNariai H, Hussain SA, Bernardo D, Fallah A, Murata KK, Nguyen JC, Rajaraman RR, Rao LM, Matsumoto JH, Lerner JT, Salamon N, Elashoff D, Sankar R, Wu JYNovember 2019Not Determined
31564436Create StudyDistinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.American journal of human geneticsYehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng COctober 2019Not Determined
31353853Create StudyWhite matter mean diffusivity correlates with myelination in tuberous sclerosis complex.Annals of clinical and translational neurologyPeters JM, Struyven RR, Prohl AK, Vasung L, Stajduhar A, Taquet M, Bushman JJ, Lidov H, Singh JM, Scherrer B, Madsen JR, Prabhu SP, Sahin M, Afacan O, Warfield SKJuly 2019Not Determined
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Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
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30117265Create StudyA clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).American journal of medical genetics. Part C, Seminars in medical geneticsde Vries, Petrus J; Wilde, Lucy; de Vries, Magdalena C; Moavero, Romina; Pearson, Deborah A; Curatolo, PaoloSeptember 2018
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28649286Create StudyAutism spectrum disorder and epileptic encephalopathy: common causes, many questions.Journal of neurodevelopmental disordersSrivastava S, Sahin MJanuary 2017
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28644979Create StudyIntraoperative fast ripples independently predict postsurgical epilepsy outcome: Comparison with other electrocorticographic phenomena.Epilepsy researchHussain SA, Mathern GW, Hung P, Weng J, Sankar R, Wu JYSeptember 2017
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27267556Create StudyAdvances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.Pediatric neurologySahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA, July 2016
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27015721Create StudyDevelopment of an Objective Autism Risk Index Using Remote Eye Tracking.Journal of the American Academy of Child and Adolescent PsychiatryFrazier TW, Klingemier EW, Beukemann M, Speer L, Markowitz L, Parikh S, Wexberg S, Giuliano K, Schulte E, Delahunty C, Ahuja V, Eng C, Manos MJ, Hardan AY, Youngstrom EA, Strauss MSApril 2016
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26529580Create StudyImproved fidelity of brain microstructure mapping from single-shell diffusion MRI.Medical image analysisTaquet M, Scherrer B, Boumal N, Peters JM, Macq B, Warfield SKDecember 2015
26472761Create StudyGenes, circuits, and precision therapies for autism and related neurodevelopmental disorders.Science (New York, N.Y.)Sahin M, Sur MNovember 2015
26362832Create StudyCharacterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND).Magnetic resonance in medicineScherrer B, Schwartzman A, Taquet M, Sahin M, Prabhu SP, Warfield SKSeptember 2016
26303409Create StudyCerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex.Journal of child neurologySundberg M, Sahin MDecember 2015
26076992Create StudyTherapeutic Advances in Autism and Other Neurodevelopmental Disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsNeul JL, Sahin MJuly 2015
25986747Create StudyTuberous Sclerosis: A New Frontier in Targeted Treatment of Autism.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsDavis PE, Peters JM, Krueger DA, Sahin MJuly 2015
25916396Create StudyBalancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsTilot AK, Frazier TW, Eng CJuly 2015
25817702Create StudyLongitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex.Pediatric neurologyBaumer FM, Song JW, Mitchell PD, Pienaar R, Sahin M, Grant PE, Takahashi EJune 2015
25750257Create StudyAltered Structural Brain Networks in Tuberous Sclerosis Complex.Cerebral cortex (New York, N.Y. : 1991)Im K, Ahtam B, Haehn D, Peters JM, Warfield SK, Sahin M, Ellen Grant PMay 2016
25695134Create StudyAutism and the synapse: emerging mechanisms and mechanism-based therapies.Current opinion in neurologyEbrahimi-Fakhari D, Sahin MApril 2015
25385396Create StudyHypsarrhythmia assessment exhibits poor interrater reliability: a threat to clinical trial validity.EpilepsiaHussain SA, Kwong G, Millichap JJ, Mytinger JR, Ryan N, Matsumoto JH, Wu JY, Lerner JT, Sankar RJanuary 2015
25374355Create StudyThe neurology of mTOR.NeuronLipton JO, Sahin MOctober 2014

You can use "Add New Data Expected" to add exsiting structures and create your project's list. However, this is also the method you can use to request new structures be created for your project. When adding the Data Expected item, if the structure already exists you can locate it and specify your dates and enrollment. To add a new structure and request it be defined in the Data Dictionary, select Upload Definition and attach the definition or material needed to create it, including manual, codebooks, forms, etc. If you have multiple files, please upload a zipped archive containing them all.

Expected dates should be selected based on the standard Data Sharing Regimen and are restricted to within date ranges based on the project start and end dates.

Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Mullen Scales of Early Learning info icon
33001/15/2021
144
Approved
Genomics/omics info icon
9001/15/2021
0
Approved
ABC Community info icon
33001/15/2016
288
Approved
ADOS info icon
33001/15/2021
295
Approved
ADI-R info icon
33001/15/2021
279
Approved
Expressive Vocabulary Test II (EVT II) info icon
33001/15/2016
239
Approved
Medical History info icon
33001/15/2016
329
Approved
Social Responsiveness Scale (SRS) info icon
33001/15/2016
314
Approved
Demographics info icon
33001/15/2016
342
Approved
Child Behavior Checklist (CBCL) info icon
33001/15/2016
305
Approved
Processed MRI Data info icon
33001/15/2021
0
Approved
Conners info icon
24001/15/2016
113
Approved
Beery-Buktenica Developmental Test of Visual-Motor Integration info icon
33001/15/2016
214
Approved
Wechsler Intelligence Scale for Children info icon
1105/09/2016
34
Approved
Diet/Food Diary/Log info icon
4805/09/2016
289
Approved
DAS-II: Differential Ability Scales info icon
9001/15/2021
14
Approved
Peabody Picture Vocabulary Test, Fourth Edition info icon
33001/15/2016
260
Approved
Wechsler Adult Intelligence Scale info icon
33001/15/2016
4
Approved
Repetitive Behavior Scale - Revised (RBS-R) info icon
33001/15/2016
320
Approved
Wechsler Preschool Primary Scale Intelligence (WPPSI) info icon
205/09/2016
10
Approved
Stanford Binet info icon
33001/15/2021
256
Approved
Physical Exam info icon
33001/15/2016
323
Approved
Sensory Profile info icon
33001/15/2016
318
Approved
Behavior Rating Inventory of Executive Function (BRIEF) info icon
24001/15/2016
220
Approved
Research Subject and Pedigree info icon
33007/15/2015
286
Approved
Classification of Seizures info icon
4805/09/2016
289
Approved
School Attendance info icon
4705/09/2016
289
Approved
Youth Self Report info icon
33001/15/2016
40
Approved
Developmental Coordination Disorder Questionnaire (DCDQ) info icon
33001/15/2016
318
Approved
Vineland (Parent and Caregiver) info icon
33001/15/2016
312
Approved
Imaging (Structural, fMRI, DTI, PET, microscopy) info icon
10001/15/2016
76
Approved
Treatment Intervention info icon
4805/09/2016
289
Approved
Speech and Language Assessment info icon
4805/09/2016
289
Approved
Autism Clinical Certainty Score info icon
33001/15/2021
291
Approved
Structure not yet defined
No Status history for this Data Expected has been recorded yet

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Associated Studies

Studies that have been defined using data from a Collection are important criteria to determine the value of data shared. The number of subjects column displays the counts from this Collection that are included in a Study, out of the total number of subjects in that study. The Data Use column represents whether or not the study is a primary analysis of the data or a secondary analysis. State indicates whether the study is private or shared with the research community.

Study NameAbstractCollection/Study SubjectsData UsageState
Examining the validity of the use of ratio IQs in psychological assessments IQ tests are amongst the most used psychological assessments, both in research and clinical settings. For participants who cannot complete IQ tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ, especially in large research databases to avoid missing data points. However, because it has never been scientifically validated, this practice is questionable. In the era of big data, it is important to examine the validity of this widely used practice. In this paper, we use the case of autism to examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which ages, FSIQ scores and subtests raw scores were available for autistic participants between 2 and 17 years old. The IQ tests included were the MSEL (N=12033), DAS-II early years (N=1270), DAS-II school age (N=2848), WISC-IV (N=471) and WISC-V (N=129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed two linear regressions to respectively assess the effect of FSIQ and of age on the DSC for each IQ test, followed by additional analyses comparing age subgroups as well as FSIQ subgroups on DSC. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. These results question the validity of this widely used alternative scoring method, especially for individuals at the extremes of the normal distribution, with whom RIQs are most often employed.34/17423Secondary AnalysisShared
Controls for SCCRIPTo establish a well characterized cohort for pediatric patients living with sickle cell disease127/11185Secondary AnalysisPrivate
Investigating autism etiology and heterogeneity by decision tree algorithmAutism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism. 4/3382Secondary AnalysisShared
Autism Sensory Research Consortium Cross-lab Integrative Data Analysis Since 2013, when sensory features were officially added to the diagnostic criteria for autism, research into the sensory manifestations of the condition has increased dramatically. However, the majority of this research has primarily been conducted using small laboratory-based samples of children on the autism spectrum, substantially limiting the hypotheses that can be tested in any one dataset and the generalizability of results to the wider autistic population. The Autism Sensory Research Consortium (ASRC), funded by the Nancy Lurie Marks Family Foundation, represents the first major international collaboration of over a dozen research groups that study sensory functioning in autism. As a major thrust of this collaboration, the ASRC has begun a data sharing initiative, in which all participating labs can contribute existing data from their past and present research studies to a centralized database. These “Big Data” can then be systematically examined using powerful large-sample statistical techniques such as structural equation modeling and item response theory, which will allow researchers to test more complex hypotheses regarding the nature of sensory differences in autism and their relationships with sociodemographic and non-sensory clinical features. Once data from all sites has been pooled, it will be analyzed using a method called integrative data analysis, which is specially designed to derive insights from large and heterogeneous samples. One major advantage of this methodology is the ability to construct and test measurement models of sensory symptoms, determining the most appropriate set of questions for assessing each construct and making sure that the scales do not produce biased comparisons when they are examined across diagnostic groups or subsets of the autistic population. Furthermore, measurement models can be constructed to bridge multiple questionnaires, allowing for the calculation of robust composite scores that can be compared between studies that only administered items from one of the contributing questionnaires. These models can further facilitate pooling of data across studies, allowing us to amass even larger datasets to answer questions about sensory function in the autistic population. Furthermore, moving forward, the composite sensory measures from the integrative data analysis can be employed in other studies, providing investigators in sensory autism research with a suite of reliable and valid behavioral measures that can be used as outcomes in trials of interventions targeting these symptoms. In the long term, this project has the potential to help us better understand the nature of sensory function in persons on the spectrum, as well as how sensory alterations relate to broader features of the condition—specifically, for whom and/or at what point in development sensory features are most predictive of core autism behaviors or other meaningful clinical outcomes such as language acquisition and adaptive behavior. Incorporation of neuroscientific data collected within the ASRC can also possibly shed some light on the neural basis of sensory disruptions in the autistic population. All of this will help to lay a foundation for future work testing the efficacy of candidate interventions aimed at improving sensory function and more distal skills in autistic individuals.15/2110Secondary AnalysisPrivate
Personalized Autism Symptom Assessment with the Youth Top Problems Scale: Observational and Parent-Report Formats for Clinical Trials ApplicationsTo date, few measures of comorbid psychiatric symptoms in the context of autism spectrum disorder (ASD) have been established as both psychometrically robust and sensitive to the effects of treatment. Therefore, I propose to conduct an item response theory (IRT) analysis for this study using the Child and Adolescent Symptom Inventory (CASI) data from the National Database for Autism Research. Item parameters will be obtained through an IRT calibration of CASI items using flexMIRT.3 (Cai, 2016). In order to conduct IRT, the CASI calibration sample will include both these NDAR participants and a sample of 68 children with diagnoses of ASD and IQ>70 (ages 6-13 years) who participated in our recent NIMH-funded clinical trial of cognitive behavioral therapy, which will create a sample large enough for the IRT analysis. I plan to publish this data as part of a broader psychometric study of children with autism.2/746Secondary AnalysisPrivate
Word Learning and Word FeaturesVocabulary composition and word-learning biases are closely interrelated in typical development. Learning new words involves attending to certain properties to facilitate word learning. Such word-learning biases are influenced by perceptually and conceptually salient word features, including high imageability, concreteness, and iconicity. This study examined the association of vocabulary knowledge and word features in young children with ASD (n = 280) and typically developing (TD) toddlers (n = 1,054). Secondary analyses were conducted using data from the National Database for Autism Research and the Wordbank database. Expressive vocabulary was measured using the MacArthur-Bates Communicative Development Inventory. Although the trajectories for concreteness, iconicity, and imageability are similar between children with ASD and TD toddlers, divergences were observed. Differences in imageability are seen early but resolve to a common trajectory; differences in iconicity are small but consistent; and differences in concreteness only emerge after both groups reach a simultaneous peak, before converging again. This study reports unique information about the nonlinear growth patterns associated with each word feature for and distinctions in these growth patterns between the groups.1/280Primary AnalysisPrivate
* Data not on individual level
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