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://ndar.nih.gov/data_dictionary.html. 

  • 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://ndar.nih.gov/data_dictionary.html. 

  • 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

Filter Cart

Viewable at the top right of NDA pages, the Filter Cart is a temporary holder for filters and data they select. Filters are added to the Workspace first, before being submitted to The Filter Cart. Data selected by filters in the Filter Cart can be added to a Data Package or an NDA Study from the Data Packaging Page, by clicking the 'Create Data Package / Add Data to Study' button.

The filter cart supports combining multiple filters together, and depending on filter type will use "AND" or "OR"  when combining filters.

Multiple selections from the same filter type will result in those selections being applied with an ‘OR’ condition. For example, if you add an NDA Collection Filter with selections for both collections 2112 and 2563 to an empty Workspace, the subjects from NDA Collection 2112 ‘OR’ NDA Collection 2563 will be added to your Workspace even if a subject is in both NDA Collections. You can then add other NDA Collections to your Workspace which further extends the ‘OR’ condition.

If a different filter type is added to your Workspace, or a filter has already been submitted to the Filter Cart, the operation then performs a logical ‘AND’ operation. This means that given the subjects returned from the first filter, only those subjects that matched the first filter are returned by the second filter (i.e., subjects that satisfied both filters).

When combining other filters with the GUID filter, please note the GUID filter should be added last. Otherwise, preselected data may be lost. For example, a predefined filter from Featured Datasets may select a subset of data available for a subject. When combined with a GUID filter for the same subject, the filter cart will contain all data available from that subject, data structure, and dataset; this may be more data than was selected in the predefined filter for that subject. Again, you should add the GUID Filter as the last filter to your cart. This ensures 'AND' logic between filters and will limit results to the subjects, data structures, and datasets already included in your filter cart.

Note that only the subjects specific to your filter will be added to your Filter Cart and only on data shared with the research community. Other data for those same subjects may exist (i.e., within another NDA Collection, associated with a data structure that was not requested in the query, etc.). So, users should select ‘Find all Subjects Data’ to identify all data for those specific subjects. 

Additional Tips:

  • You may query the data without an account, but to gain access you will need to create an NDA user account and apply for access.  Most data access requires that you or your lab are sponsored by an NIH recognized institution with Federal Wide Assurance (FWA).  Without access, you will not be able to obtain individual-level data. 

    Once you have selected data of interest you can:
  • Create a data package - This allows you to specify format for access/download
  • Assign to Study Cohort - Associate the data to an NDA Study allowing for a DOI to be generated and the data to be linked directly to a finding, publication, or data release. 
  • Find All Subject Data - Depending on filter types being used, not all data associated with a subject will be selected.  Data may be restricted by data structure, NDA Collection, or outcome variables (e.g., NDA Study). ‘Find All Data’ expands the fliter criteria by replacing all filters in your Filter Cart with a single Query by GUID filter for all subjects selected by those filters.

    Please Note:
  • When running a query, it may take a moment to populate the Filter Cart. Queries happen in the background so you can define other queries during this time. 
  • When you add your first filter, all data associated with your query will be added to the Filter Cart (e.g., a Concept, an NDA Collection, a Data Structure/Element, etc.). As you add additional filters, they will also display in the Filter Cart. Only the name of filter will be shown in the Filter Cart, not the underlying structures. 
  • Information about the contents of the Filter Cart can be seen by clicking "Edit”.
  • Once your results appear in the Filter Cart, you can create a data package or assign subjects to a study by selecting the 'Package/Assign to Study' option. You can also 'Edit' or 'Clear' filters.
     

Frequently Asked Questions

  • The Filter Cart currently employs basic AND/OR Boolean logic. A single filter may contain multiple selections for that filter type, e.g., a single NDA Study filter might contain NDA Study 1 and NDA Study 2. A subject that is in EITHER 1 OR 2 will be returned.  Adding multiple filters to the cart, regardless of type, will AND the result of each filter.  If NDA Study 1 and NDA Study 2 are added as individual filters, data for a subject will only be selected if the subject is included in  BOTH 1 AND 2.

    When combining other filters with the GUID filter, please note the GUID filter should be added last. Otherwise, preselected data may be lost. For example, a predefined filter from Featured Datasets may select a subset of data available for a subject. When combined with a GUID filter for the same subject, the filter cart will contain all data available from that subject, data structure, and dataset; this may be more data than was selected in the predefined filter for that subject. Again, you should add the GUID Filter as the last filter to your cart. This ensures 'AND' logic between filters and will limit results to the subjects, data structures, and datasets already included in your filter cart.

  • Viewable at the top right of NDA pages, the Filter Cart is a temporary holder of data identified by the user, through querying or browsing, as being of some potential interest. The Filter Cart is where you send the data from your Workspace after it has been filtered.

  • After filters are added to the Filter Cart, users have options to ‘Create a Package’ for download, ‘Associate to Study Cohort’, or ‘Find All Subject Data’. Selecting ‘Find All Subject Data’ identifies and pulls all data for the subjects into the Filter Cart. Choosing ‘Create a Package’ allows users to package and name their query information for download. Choosing ‘Associate to Study Cohort’ gives users the opportunity to choose the Study Cohort they wish to associate this data.

Glossary

  • Once your filter cart contains the subjects of interest, select Create Data Package/Assign to Data Study which will provide options for accessing item level data and/or assigning to a study.  

  • Once queries have been added to your workspace, the next step is to Submit the Filters in the workspace to the Filter Cart.  This process runs the queries selected, saving the results within a filter cart attached to your account.  

  • The Workspace within the General Query Tool is a holding area where you can review your pending filters prior to adding them to Filter Cart. Therefore, the first step in accessing data is to select one or more items and move it into the Workspace. 

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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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1 Numbers reported are subjects by age
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Format should be in the following format: Activity Code, Institute Abbreviation, and Serial Number. Grant Type, Support Year, and Suffix should be excluded. For example, grant 1R01MH123456-01A1 should be entered R01MH123456

Please select an experiment type below

Collection - Use Existing Experiment

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

The table search feature is case insensitive and targets the experiment id, experiment name and experiment type columns. The experiment id is searched only when the search term entered is a number, and filtered using a startsWith comparison. When the search term is not numeric the experiment name is used to filter the results.

SelectExperiment IdExperiment NameExperiment Type
  • Select One
  • EEG
  • EGG
  • Eye Tracking
  • Omics
  • fMRI
Created On
1869RRAY fMRI ScanfMRI11/27/2021
1867Resting StatefMRI11/22/2021
1866MNA fMRIfMRI11/16/2021
1865Motion AftereffectsEye Tracking11/05/2021
1864Tilt Aftereffects (TAE)Eye Tracking11/05/2021
1863Negative Afterimages (AI)Eye Tracking11/05/2021
1862Face-Matching TaskfMRI11/03/2021
1861Resting StatefMRI11/03/2021
1860CARIT (Go/NoGo Task)fMRI11/03/2021
1859PCR-free sequencingOmics10/29/2021
1858GNG Anger, Gender, Happy Tasks- EEGEEG10/15/2021
1857PVDM, imaging sessionEye Tracking10/14/2021
1856PVDM, imaging sessionfMRI10/13/2021
1855PVDM, behavioral sessionEye Tracking10/13/2021
1854Cerebellar Dysfunction in Autism: resting state fMRIfMRI10/13/2021
1852snRNAseq_controls_DLPFC/sgACCOmics09/30/2021
1851Reappraisal Emotion Regulation Task - V2fMRI09/22/2021
1850Reappraisal Emotion Regulation Task - V1fMRI09/22/2021
1849Stop-Signal Arrows - Randomization BfMRI09/22/2021
1848Stop-Signal Arrows - Randomization AfMRI09/22/2021
1847NPU Threat Countdown Short - V2fMRI09/22/2021
1846NPU Threat Countdown Short - V1fMRI09/22/2021
1836Alcohol Cue ReactivityEEG09/02/2021
1835Doors Reward ParadigmEEG08/30/2021
1834Flanker ArrowsEEG08/30/2021
1833Transcriptomic data of Clozapine-treated Ngn2-induced Human Excitatory NeuronsOmics08/20/2021
1830Illumina Global Screening ArrayOmics08/02/2021
1829Single-cell multiome sequencing: ATAC-seqOmics07/26/2021
1828Single-cell multiome sequencing - RNA-seqOmics07/26/2021
1827scATACseqOmics07/26/2021
1826scRNAseqOmics07/26/2021
1825Fetal Resting-state fMRI Brain MasksfMRI07/23/2021
1824Apex of Cognitive ControlfMRI07/22/2021
1823Face adaptationEye Tracking07/21/2021
1822Presaccadic AttentionEye Tracking07/21/2021
1821templefMRI07/19/2021
1820parvizi_eeg_145EEG07/16/2021
1819parvizi_eeg_166EEG07/16/2021
1818parvizi_eeg_164EEG07/16/2021
1817parvizi_eeg_165EEG07/16/2021
1816parvizi_eeg_162EEG07/16/2021
1815parvizi_eeg_161EEG07/16/2021
1814eeg_parvizi_160EEG07/16/2021
1813parvizi_eeg_159EEG07/16/2021
1812Singleton distractor rejectionEEG07/16/2021
1810InterlayerfMRI07/15/2021
1809Alpha, BOLD, experience, and expectancy during associative learningEEG07/14/2021
1808Alpha, BOLD, experience, and expectancy during associative learningfMRI07/14/2021
1807Correlating concurrent EEG/BOLD in occipital cortex while presenting Gabor patch steadily increasing in contrastEEG07/14/2021
1806Correlating concurrent EEG/BOLD in occipital cortex while presenting Gabor patch steadily increasing in contrastfMRI07/14/2021
Collection - Add Experiment
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Please enter the name of the data structure to search or if your definition does not exist, please upload that definition so that it can be appropriately defined for submission. Multiple data structures may be associated with a single Data Expected entry. Please add only one data structure per assessment.

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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Sporadic Mutations and Autism Spectrum Disorders
Evan E Eichler 
Sporadic Mutations and Autism Spectrum Disorders
NIMH Data Archive
NIMH Data Archive
Funding Completed
Close Out
Shared
No
$3,357,802.00
11,252
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NIH - Extramural None


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

IDNameCreated DateStatusType
586MIP sequencing01/09/2017ApprovedOmics

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

Shared Data

Data structures with the number of subjects submitted and shared are provided.

Aberrant Behavior Checklist (ABC) - Community Clinical Assessments 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 11081
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

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 IDStudyTitleJournalAuthorsDateStatus
34633740Create StudyA family study implicates GBE1 in the etiology of autism spectrum disorder.Human mutationFanjul-Fernández, Miriam; Brown, Natasha J; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P; Eichler, Evan E; Delatycki, Martin B; Wilson, Sarah J; Bahlo, Melanie; Scheffer, Ingrid E; Lockhart, Paul JOctober 11, 2021Not Determined
34633442Create StudyGain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.Brain : a journal of neurologyAhring, Philip K; Liao, Vivian W Y; Gardella, Elena; Johannesen, Katrine M; Krey, Ilona; Selmer, Kaja K; Stadheim, Barbro F; Davis, Hannah; Peinhardt, Charlotte; Koko, Mahmoud; Coorg, Rohini K; Syrbe, Steffen; Bertsche, Astrid; Santiago-Sim, Teresa; Diemer, Tue; Fenger, Christina D; Platzer, Konrad; Eichler, Evan E; Lerche, Holger; Lemke, Johannes R; Chebib, Mary; Møller, Rikke SOctober 11, 2021Not Determined
34616060Create StudySingle-cell epigenomics reveals mechanisms of human cortical development.NatureZiffra, Ryan S; Kim, Chang N; Ross, Jayden M; Wilfert, Amy; Turner, Tychele N; Haeussler, Maximilian; Casella, Alex M; Przytycki, Pawel F; Keough, Kathleen C; Shin, David; Bogdanoff, Derek; Kreimer, Anat; Pollard, Katherine S; Ament, Seth A; Eichler, Evan E; Ahituv, Nadav; Nowakowski, Tomasz JOctober 1, 2021Not Determined
34312540Create StudyRecent ultra-rare inherited variants implicate new autism candidate risk genes.Nature geneticsWilfert, Amy B; Turner, Tychele N; Murali, Shwetha C; Hsieh, PingHsun; Sulovari, Arvis; Wang, Tianyun; Coe, Bradley P; Guo, Hui; Hoekzema, Kendra; Bakken, Trygve E; Winterkorn, Lara H; Evani, Uday S; Byrska-Bishop, Marta; Earl, Rachel K; Bernier, Raphael A; SPARK Consortium; Zody, Michael C; Eichler, Evan EAugust 1, 2021Not Determined
34216551Create StudyTargeted long-read sequencing identifies missing disease-causing variation.American journal of human geneticsMiller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; University of Washington Center for Mendelian Genomics; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan EAugust 5, 2021Not Determined
34211179Create StudyPathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nature geneticsCousin, Margot A; Creighton, Blake A; Breau, Keith A; Spillmann, Rebecca C; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J; Afriyie, Simone; Bay, Julia C; Harper, Kathryn M; Beltran, Alvaro A; Munoz, Lorena J; Falcon Rodriguez, Liset; Stankewich, Michael C; Person, Richard E; Si, Yue; Normand, Elizabeth A; Blevins, Amy; May, Alison S; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J; Brilstra, Eva; van Gassen, Koen L I; van Jaarsveld, Richard H; Oegema, Renske; Parsons, Gretchen M; Mark, Paul; Helbig, Ingo; McKeown, Sarah E; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A; Wang, Tianyun; Eichler, Evan E; van de Laar, Ingrid M B H; McConkie-Rosell, Allyn; McDonald, Marie T; Kemppainen, Jennifer; Lanpher, Brendan C; Schultz-Rogers, Laura E; Gunderson, Lauren B; Pichurin, Pavel N; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran, Adriana S; Zimmermann, Michael T; Temple, Brenda; Moy, Sheryl S; Klee, Eric W; Tan, Queenie K-G; Lorenzo, Damaris NJuly 1, 2021Not Determined
34148555Create StudyReflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.Journal of neurodevelopmental disordersArnett, Anne B; Wang, Tianyun; Eichler, Evan E; Bernier, Raphael AJune 21, 2021Not Determined
34088660Create StudyThe CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.Science advancesColl-Tané, Mireia; Gong, Naihua N; Belfer, Samuel J; van Renssen, Lara V; Kurtz-Nelson, Evangeline C; Szuperak, Milan; Eidhof, Ilse; van Reijmersdal, Boyd; Terwindt, Isabel; Durkin, Jaclyn; Verheij, Michel M M; Kim, Chang N; Hudac, Caitlin M; Nowakowski, Tomasz J; Bernier, Raphael A; Pillen, Sigrid; Earl, Rachel K; Eichler, Evan E; Kleefstra, Tjitske; Kayser, Matthew S; Schenck, AnnetteJune 1, 2021Not Determined
33998396Create StudySleep Problems in Children with ASD and Gene Disrupting Mutations.The Journal of genetic psychologyEarl, Rachel K; Ward, Tracey; Gerdts, Jennifer; Eichler, Evan E; Bernier, Raphael A; Hudac, Caitlin MSeptember 1, 2021Not Determined
33874999Create StudyRare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome medicineGillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; CAUSES Study; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; SPARK Consortium; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan EApril 19, 2021Not Determined
33727758Create StudyCo-occurring medical conditions among individuals with ASD-associated disruptive mutations.Children''s health care : journal of the Association for the Care of Children''s HealthKurtz-Nelson, Evangeline C; Beighley, Jennifer S; Hudac, Caitlin M; Gerdts, Jennifer; Wallace, Arianne S; Hoekzema, Kendra; Eichler, Evan E; Bernier, Raphael AJanuary 1, 2020Not Determined
33596411Create StudySPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.American journal of human geneticsRadio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham Jr, John M; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder Jr, Jimmy Lloyd; Tartaglia, MarcoMarch 4, 2021Not Determined
33439542Create StudyHuman disease genes website series: An international, open and dynamic library for up-to-date clinical information.American journal of medical genetics. Part ADingemans, Alexander J M; Stremmelaar, Diante E; Vissers, Lisenka E L M; Jansen, Sandra; Nabais Sá, Maria J; van Remortele, Angela; Jonis, Noraly; Truijen, Kim; van de Ven, Sam; Ewals, Jeroen; Verbruggen, Michel; Koolen, David A; Brunner, Han G; Eichler, Evan E; Gecz, Jozef; de Vries, Bert B AApril 1, 2021Not Determined
33175317Create StudyBrief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.Journal of autism and developmental disordersKurtz-Nelson, Evangeline C; Tham, See Wan; Ahlers, Kaitlyn; Cho, Daniel; Wallace, Arianne S; Eichler, Evan E; Bernier, Raphael A; Earl, Rachel KSeptember 1, 2021Not Determined
33157009Create StudyNCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.American journal of human geneticsGuo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K; Hernan, Rebecca; Alkuraya, Fowzan S; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frédéric; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R; Dreyer, Inken; Chun-Hui Tsai, Anne; Slegesky, Valerie; McGee, Rose B; Daniels, Brina; Sellars, Elizabeth A; Carpenter, Lori A; Schaefer, Bradley; Sacoto, Maria J Guillen; Begtrup, Amber; Schnur, Rhonda E; Punj, Sumit; Wentzensen, Ingrid M; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A; Chen, Chao; Eichler, Evan E; Xia, KunNovember 5, 2020Not Determined
33004838Create StudyLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Nature communicationsWang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; SPARK Consortium; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan EOctober 1, 2020Not Determined
32918531Create StudyDevelopmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism ResearchArnett, Anne B; Beighley, Jennifer S; Kurtz-Nelson, Evangeline C; Hoekzema, Kendra; Wang, Tianyun; Bernier, Raphe A; Eichler, Evan EOctober 1, 2020Not Determined
32359473Create StudyInsufficient Evidence for "Autism-Specific" Genes.American journal of human geneticsMyers, Scott M; Challman, Thomas D; Bernier, Raphael; Bourgeron, Thomas; Chung, Wendy K; Constantino, John N; Eichler, Evan E; Jacquemont, Sebastien; Miller, David T; Mitchell, Kevin J; Zoghbi, Huda Y; Martin, Christa Lese; Ledbetter, David HMay 7, 2020Not Determined
31999386Create StudyBAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.Human mutationScott, Tiana M; Guo, Hui; Eichler, Evan E; Rosenfeld, Jill A; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A; Streff, Haley; Lewis, Andrea M; Koenig, Mary K; Thiffault, Isabelle; Bellomo, Allison; Everman, David B; Jones, Julie R; Stevenson, Roger E; Bernier, Raphael; Gilissen, Christian; Pfundt, Rolph; Hiatt, Susan M; Cooper, Gregory M; Holder, Jimmy L; Scott, Daryl AMay 2020Not Determined
31785789Create StudySex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.American journal of human geneticsTurner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EEDecember 2019Not Determined
31723249Create StudyDe novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Genetics in medicine : official journal of the American College of Medical GeneticsMirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G; Nickerson, Deborah A; van Binsbergen, Ellen; Enns, Gregory M; Dries, Annika M; Rowe, Leah J; Tsai, Anne C H; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H; Martinez-Agosto, Julian; Ockeloen, Charlotte W; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A; Undiagnosed Diseases Network,; Eichler, Evan E; Vincent, John B; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad, Michael JMarch 2020Not Determined
31674007Create StudyPhenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.Clinical geneticsWu, Huidan; Li, Honghui; Bai, Ting; Han, Lin; Ou, Jianjun; Xun, Guanglei; Zhang, Yu; Wang, Yazhe; Duan, Guiqin; Zhao, Ningxia; Chen, Biyuan; Du, Xiaogang; Yao, Meiling; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Eichler, Evan E; Guo, Hui; Xia, KunFebruary 2020Not Determined
31616000Create StudyDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.Nature communicationsGuo, Hui; Bettella, Elisa; Marcogliese, Paul C; Zhao, Rongjuan; Andrews, Jonathan C; Nowakowski, Tomasz J; Gillentine, Madelyn A; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H; van Bon, Bregje W; Rinne, Tuula; Stevens, Servi J C; Kleefstra, Tjitske; Brunner, Han G; Yntema, Helger G; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U; Erwin, Deanna J; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; University of Washington Center for Mendelian Genomics; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather C; Muir, Alison M; Scheffer, Ingrid E; Regan, Brigid M; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M; Waisfisz, Quinten; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ruivenkamp, Claudia A L; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A; Bernier, Raphael A; Wangler, Michael F; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P A; Bellen, Hugo J; Murgia, Alessandra; Eichler, Evan EOctober 2019Not Determined
31579823Create StudyDisruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.Science advancesGuo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P A; Prada, Carlos E; Hopkin, Robert J; Shieh, Joseph T; McWalter, Kirsty; Monaghan, Kristin G; van Hasselt, Peter M; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A; Lalani, Seema R; Azamian, Mahshid; Mancini, Grazia M S; Adams, Darius J; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gecz, Jozef; Haan, Eric; Ranells, Judith; Racobaldo, Melissa; Nordenskjold, Magnus; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; Rosenfeld, Jill A; de Vries, Bert B A; Bernier, Raphael A; Xu, Zhi-Qing David; Li, Honghui; Xie, Wei; Hufnagel, Robert B; Eichler, Evan E; Xia, KunSeptember 1, 2019Not Determined
31526516Create StudyClinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.Biological psychiatryBeighley, Jennifer S; Hudac, Caitlin M; Arnett, Anne B; Peterson, Jessica L; Gerdts, Jennifer; Wallace, Arianne S; Mefford, Heather C; Hoekzema, Kendra; Turner, Tychele N; O'Roak, Brian J; Eichler, Evan E; Bernier, Raphael AJanuary 2020Not Determined
31452935Create StudyExome sequencing of 457 autism families recruited online provides evidence for autism risk genes.NPJ genomic medicineFeliciano, Pamela; Zhou, Xueya; Astrovskaya, Irina; Turner, Tychele N; Wang, Tianyun; Brueggeman, Leo; Barnard, Rebecca; Hsieh, Alexander; Snyder, LeeAnne Green; Muzny, Donna M; Sabo, Aniko; SPARK Consortium; Gibbs, Richard A; Eichler, Evan E; O'Roak, Brian J; Michaelson, Jacob J; Volfovsky, Natalia; Shen, Yufeng; Chung, Wendy KJanuary 2019Not Determined
31417602Create StudyEnabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.Frontiers in geneticsNellåker, Christoffer; Alkuraya, Fowzan S; Baynam, Gareth; Bernier, Raphael A; Bernier, Francois P J; Boulanger, Vanessa; Brudno, Michael; Brunner, Han G; Clayton-Smith, Jill; Cogné, Benjamin; Dawkins, Hugh J S; deVries, Bert B A; Douzgou, Sofia; Dudding-Byth, Tracy; Eichler, Evan E; Ferlaino, Michael; Fieggen, Karen; Firth, Helen V; FitzPatrick, David R; Gration, Dylan; Groza, Tudor; Haendel, Melissa; Hallowell, Nina; Hamosh, Ada; Hehir-Kwa, Jayne; Hitz, Marc-Phillip; Hughes, Mark; Kini, Usha; Kleefstra, Tjitske; Kooy, R Frank; Krawitz, Peter; Küry, Sébastien; Lees, Melissa; Lyon, Gholson J; Lyonnet, Stanislas; Marcadier, Julien L; Meyn, Stephen; Moslerová, Veronika; Politei, Juan M; Poulton, Cathryn C; Raymond, F Lucy; Reijnders, Margot R F; Robinson, Peter N; Romano, Corrado; Rose, Catherine M; Sainsbury, David C G; Schofield, Lyn; Sutton, Vernon R; Turnovec, Marek; Van Dijck, Anke; Van Esch, Hilde; Wilkie, Andrew O M; Minerva ConsortiumJanuary 2019Not Determined
31300657Create StudyAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.Nature communicationsSalpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G; Santiago-Sim, Teresa; Person, Richard E; Cho, Megan T; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M; Jaeger, Bregje; Schneider, Amy L; Boysen, Katja; Muir, Alison M; Myers, Candace T; Gavrilova, Ralitza H; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Peñas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; SYNAPS Study Group; Raspall-Chaure, Miquel; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C; Scheffer, Ingrid E; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E; Eichler, Evan E; Kullmann, Dimitri M; Houlden, HenryJuly 2019Not Determined
31272685Create StudyHabituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.Biological psychiatryFenckova, Michaela; Blok, Laura E R; Asztalos, Lenke; Goodman, David P; Cizek, Pavel; Singgih, Euginia L; Glennon, Jeffrey C; IntHout, Joanna; Zweier, Christiane; Eichler, Evan E; von Reyn, Catherine R; Bernier, Raphael A; Asztalos, Zoltan; Schenck, AnnetteAugust 2019Not Determined
30970187Create StudyMolecular Genetic Anatomy and Risk Profile of Hirschsprung''s Disease.The New England journal of medicineTilghman, Joseph M; Ling, Albee Y; Turner, Tychele N; Sosa, Maria X; Krumm, Niklas; Chatterjee, Sumantra; Kapoor, Ashish; Coe, Bradley P; Nguyen, Khanh-Dung H; Gupta, Namrata; Gabriel, Stacey; Eichler, Evan E; Berrios, Courtney; Chakravarti, AravindaApril 2019Not Determined
30827496Create StudyMissense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.American journal of human geneticsCogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; CAUSES Study; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie; Deciphering Developmental Disorders study; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A F; Nellaker, Christoffer; Yang, Yaping; Lupski, James R; Goldstein, David B; Eichler, Evan E; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe MMarch 2019Not Determined
30564305Create StudyInherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.Molecular autismGuo, Hui; Wang, Tianyun; Wu, Huidan; Long, Min; Coe, Bradley P; Li, Honghui; Xun, Guanglei; Ou, Jianjun; Chen, Biyuan; Duan, Guiqin; Bai, Ting; Zhao, Ningxia; Shen, Yidong; Li, Yun; Wang, Yazhe; Zhang, Yu; Baker, Carl; Liu, Yanling; Pang, Nan; Huang, Lian; Han, Lin; Jia, Xiangbin; Liu, Cenying; Ni, Hailun; Yang, Xinyi; Xia, Lu; Chen, Jingjing; Shen, Lu; Li, Ying; Zhao, Rongjuan; Zhao, Wenjing; Peng, Jing; Pan, Qian; Long, Zhigao; Su, Wei; Tan, Jieqiong; Du, Xiaogang; Ke, Xiaoyan; Yao, Meiling; Hu, Zhengmao; Zou, Xiaobing; Zhao, Jingping; Bernier, Raphael A; Eichler, Evan E; Xia, KunJanuary 2018Not Determined
30563709Create StudyThe Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.Trends in neurosciencesTurner, Tychele N; Eichler, Evan EFebruary 2019Not Determined
30559488Create StudyNeurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.Nature geneticsCoe, Bradley P; Stessman, Holly A F; Sulovari, Arvis; Geisheker, Madeleine R; Bakken, Trygve E; Lake, Allison M; Dougherty, Joseph D; Lein, Ed S; Hormozdiari, Fereydoun; Bernier, Raphael A; Eichler, Evan EJanuary 2019Not Determined
30504930Create StudyGenome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.Genetics in medicine : official journal of the American College of Medical GeneticsGuo, Hui; Duyzend, Michael H; Coe, Bradley P; Baker, Carl; Hoekzema, Kendra; Gerdts, Jennifer; Turner, Tychele N; Zody, Michael C; Beighley, Jennifer S; Murali, Shwetha C; Nelson, Bradley J; University of Washington Center for Mendelian Genomics; Bamshad, Michael J; Nickerson, Deborah A; Bernier, Raphael A; Eichler, Evan EJuly 2019Not Determined
30107084Create StudyThe autism spectrum phenotype in ADNP syndrome.Autism research : official journal of the International Society for Autism ResearchArnett, Anne B; Rhoads, Candace L; Hoekzema, Kendra; Turner, Tychele N; Gerdts, Jennifer; Wallace, Arianne S; Bedrosian-Sermone, Sandra; Eichler, Evan E; Bernier, Raphael ASeptember 2018Not Determined
29724491Create StudyClinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.Biological psychiatryVan Dijck, Anke; Vulto-van Silfhout, Anneke T; Cappuyns, Elisa; van der Werf, Ilse M; Mancini, Grazia M; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; ADNP Consortium; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B A; Küry, Sébastien; Rosenfeld, Jill A; Meuwissen, Marije E; Vandeweyer, Geert; Kooy, R FrankFebruary 2019Not Determined
29656860Create StudyTruncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.American journal of human geneticsCheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J; de Vries, Bert B A; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K; Boycott, Kym M; Person, Richard; Willaert, Rebecca; Eichler, Evan E; Kooy, R Frank; Yang, Yaping; Wu, Joseph C; Lupski, James R; Arnesen, Thomas; Cooper, Gregory M; Chung, Wendy K; Gecz, Jozef; Stessman, Holly A F; Meng, Linyan; Lyon, Gholson JMay 2018Not Determined
29250444Create StudyAssociations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.Autism research and treatmentLuhrs, Kyleen; Ward, Tracey; Hudac, Caitlin M; Gerdts, Jennifer; Stessman, Holly A F; Eichler, Evan E; Bernier, Raphael AJanuary 2017Not Determined
29209020Create StudyA genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.European journal of human genetics : EJHGJansen, Sandra; Hoischen, Alexander; Coe, Bradley P; Carvill, Gemma L; Van Esch, Hilde; Bosch, Daniëlle G M; Andersen, Ulla A; Baker, Carl; Bauters, Marijke; Bernier, Raphael A; van Bon, Bregje W; Claahsen-van der Grinten, Hedi L; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J C; Stumpel, Connie T; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; Vries, Petra de; Witherspoon, Kali; Veltman, Joris A; Brunner, Han G; Mefford, Heather C; Romano, Corrado; Vissers, Lisenka E L M; Eichler, Evan E; de Vries, Bert B AJanuary 2018Not Determined
29179772Create StudyRecurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Genome medicineWilfert AB, Sulovari A, Turner TN, Coe BP, Eichler EENovember 2017Not Determined
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26235985Create StudyMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.American journal of human geneticsSnijders Blok, Lot; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot R F; Venselaar, Hanka; Helsmoortel, Céline; Cho, Megan T; Hoischen, Alexander; Vissers, Lisenka E L M; Koemans, Tom S; Wissink-Lindhout, Willemijn; Eichler, Evan E; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Oberndorff, Karin; van Bon, Bregje W M; Shaw, Marie; Gecz, Jozef; Haan, Eric; Bienek, Melanie; Jensen, Corinna; Loeys, Bart L; Van Dijck, Anke; Innes, A Micheil; Racher, Hilary; Vermeer, Sascha; Di Donato, Nataliya; Rump, Andreas; Tatton-Brown, Katrina; Parker, Michael J; Henderson, Alex; Lynch, Sally A; Fryer, Alan; Ross, Alison; Vasudevan, Pradeep; Kini, Usha; Newbury-Ecob, Ruth; Chandler, Kate; Male, Alison; DDD Study; Dijkstra, Sybe; Schieving, Jolanda; Giltay, Jacques; van Gassen, Koen L I; Schuurs-Hoeijmakers, Janneke; Tan, Perciliz L; Pediaditakis, Igor; Haas, Stefan A; Retterer, Kyle; Reed, Patrick; Monaghan, Kristin G; Haverfield, Eden; Natowicz, Marvin; Myers, Angela; Kruer, Michael C; Stein, Quinn; Strauss, Kevin A; Brigatti, Karlla W; Keating, Katherine; Burton, Barbara K; Kim, Katherine H; Charrow, Joel; Norman, Jennifer; Foster-Barber, Audrey; Kline, Antonie D; Kimball, Amy; Zackai, Elaine; Harr, Margaret; Fox, Joyce; McLaughlin, Julie; Lindstrom, Kristin; Haude, Katrina M; van Roozendaal, Kees; Brunner, Han; Chung, Wendy K; Kooy, R Frank; Pfundt, Rolph; Kalscheuer, Vera; Mehta, Sarju G; Katsanis, Nicholas; Kleefstra, TjitskeAugust 6, 2015
25707398Create StudyDisruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.Molecular psychiatryvan Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EEJanuary 2016
25418537Create StudyRecurrent de novo mutations implicate novel genes underlying simplex autism risk.Nature communicationsO'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE2014
25363768Create StudyThe contribution of de novo coding mutations to autism spectrum disorder.NatureIossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, et al.November 13, 2014
24998929Create StudyDisruptive CHD8 mutations define a subtype of autism early in development.CellBernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, et al.July 17, 2014

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
Genomics/omics info icon
15,29105/15/2017
5
Approved
ABC Community info icon
9001/01/2015
86
Approved
ADOS info icon
8501/01/2015
136
Approved
Delis-Kaplan Executive Function System (D-KEFS) info icon
1501/01/2015
37
Approved
Expressive Vocabulary Test II (EVT II) info icon
7001/01/2015
79
Approved
Social Responsiveness Scale (SRS) info icon
7001/01/2015
158
Approved
Wechsler Abbreviated Scale of Intelligence (WASI) info icon
9001/01/2015
10
Approved
Social Communication Questionnaire (SCQ) info icon
7001/01/2015
84
Approved
Child Behavior Checklist (CBCL) info icon
7001/01/2015
148
Approved
DAS-II: Differential Ability Scales info icon
7001/01/2015
106
Approved
Peabody Picture Vocabulary Test, Fourth Edition info icon
7001/01/2015
97
Approved
Physical Exam info icon
7001/01/2015
165
Approved
Handedness Form info icon
5405/15/2017
80
Approved
Adult Behavior Checklist (ABCL) info icon
1001/01/2015
13
Approved
Research Subject and Pedigree info icon
9007/15/2014
11,247
Approved
Movement Assessment Battery for Children - 2 info icon
2007/15/2014
48
Approved
Structure not yet defined

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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
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsAlthough de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,600 NDD patients identified 21 new patients with identical missense mutations. One recurrent site (p.Ala636Thr) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology.18024/18812Primary AnalysisPrivate
Examining the validity of the use of ratio IQs in psychological assessments IQ tests are amongst the most used psychological assessments, both in research and clinical settings. For participants who cannot complete IQ tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ, especially in large research databases to avoid missing data points. However, because it has never been scientifically validated, this practice is questionable. In the era of big data, it is important to examine the validity of this widely used practice. In this paper, we use the case of autism to examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which ages, FSIQ scores and subtests raw scores were available for autistic participants between 2 and 17 years old. The IQ tests included were the MSEL (N=12033), DAS-II early years (N=1270), DAS-II school age (N=2848), WISC-IV (N=471) and WISC-V (N=129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed two linear regressions to respectively assess the effect of FSIQ and of age on the DSC for each IQ test, followed by additional analyses comparing age subgroups as well as FSIQ subgroups on DSC. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. These results question the validity of this widely used alternative scoring method, especially for individuals at the extremes of the normal distribution, with whom RIQs are most often employed.106/17423Secondary AnalysisPrivate
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biasesGene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 patients and >2,867 controls. We report 91 genes with an excess of de novo mutations or private disruptive mutations in 5.7% of patients, including 38 novel NDD genes. Drosophila functional assays of a subset bolster their involvement in NDDs. We identify 25 genes that show a bias for autism versus intellectual disability and highlight a network associated with high-functioning autism (FSIQ>100). Clinical follow-up for NAA15, KMT5B, and ASH1L reveals novel syndromic and non-syndromic forms of disease. [Note: Upload of individual sample-level raw data files is ongoing and expected to be completed by 02/28/2017.]15291/15561Primary AnalysisShared
Controls for SCCRIPTo establish a well characterized cohort for pediatric patients living with sickle cell disease48/11185Secondary AnalysisPrivate
Working Title: Differentiating Core Autism SymptomatologyAutism spectrum disorder (ASD) is characterized by persistent deficits in social communication and social interaction, social-emotional reciprocity, and repetitive behavior or restricted interest (American Psychiatric Association [APA], 2013). This study extends the existing literature by clarifying the extent to which mental health disorder symptoms differentially converge with autism symptoms related to social communication and restricted and repetitive behavior, as well as the extent to which mental health symptoms are empirically differentiated from the core autism symptom domains. Although there is a well-documented correlation between the severity of core ASD symptoms and the presence of mental health disorder symptoms, such as anxiety and irritability, the nature of this linkage remains poorly understood. In this project, the National Database for Autism Research (NDAR) and Research Domain Criteria Database (RDoCdb) were used to observe continuous symptom measures such as the Social Responsiveness Scale (SRS) and the Child Behavior Checklist (CBCL) to examine correlation matrices as well as factor structure models to examine these patterns of association. The SRS “social communication” and “repetitive restricted” subscales were correlated with the CBCL externalizing, internalizing, attention, conduct, aggression, psychosomatic, and withdrawn subscales. We hypothesized that “repetitive and restricted” behaviors would be more correlated with the CBCL scales than would the “social communication” scale. These results were also interpreted according to age and IQ. In conclusion, this study may elucidate ongoing questions about the centrality of mental health symptoms like anxiety to aspects of ASD taxonomy. 88/11144Secondary AnalysisPrivate
The evolution and population diversity of human-specific segmental duplicationsSegmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (n=80 genes/33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed “core duplicons”, and evolved primarily in an interspersed inverted orientation. In addition to Homo sapiens-specific gene expansions (e.g., TCAF1/2), we highlight ten gene families (e.g., ARHGAP11B and SRGAP2C) where copy number never returns to the ancestral state, there is evidence of mRNA splicing, and no common gene-disruptive mutations are observed in the general population. Such duplicates are candidates for the evolution of human-specific adaptive traits. 4623/6360Primary AnalysisShared
Investigating autism etiology and heterogeneity by decision tree algorithmAutism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism. 60/3382Secondary AnalysisShared
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.6/2110Secondary AnalysisPrivate
Computer-Based Testing to Shorten the Social Communication Questionnaire (SCQ): A Proof-of-Principle Study of the Lifetime and Current FormsThe Social Communication Questionnaire (SCQ) is a 40-item instrument designed to screen children at risk for Autism Spectrum Disorder (ASD). Both Lifetime and Current forms of the scale are available. Although these forms are manageable for many respondents, their use may result in substantial respondent and administrative burden, particularly among individuals who have difficulty reading, have physical illness, and/or are asked to take multiple questionnaires. The objective of this research was to examine the potential of two stopping rules for computer-based testing (namely, curtailment and stochastic curtailment) to shorten the SCQ without compromising its screening properties. A retrospective analysis was conducted using data from the National Database for Autism Research (NDAR); responses regarding 1236 at-risk individuals from the SCQ Lifetime and 709 at-risk individuals from the SCQ Current were analyzed. In post-hoc simulation, curtailment reduced mean test lengths by 29% to 44% compared to the full-length Lifetime form, and by 25% to 39% compared to the full-length Current form, while providing the same screening result as the corresponding full-length form in 100% of cases. Stochastic curtailment made further reductions in test length, but was not always concordant with the full-length form’s screening result. These findings suggest that curtailment has potential to improve the efficiency of the SCQ in computer-based administrations and should be tested prospectively.1/1820Secondary AnalysisPrivate
Gender as a Moderator of the Association between Social Responsiveness and Cognitive Ability for Children with Autism21/977Secondary AnalysisPrivate
Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findingsFemales with autism spectrum disorder (ASD) have been long overlooked in neuroscience research, but emerging evidence suggests they show distinct phenotypic trajectories and age-related brain differences. Sex-related biological factors (e.g., hormones, genes) may play a role in ASD etiology and have been shown to influence neurodevelopmental trajectories. Thus, a lifespan approach is warranted to understand brain-based sex differences in ASD. This systematic review on MRI-based sex differences in ASD was conducted to elucidate variations across the lifespan and inform biomarker discovery of ASD in females. We identified articles through two database searches. Fifty studies met criteria and underwent integrative review. We found that regions expressing replicable sex-by-diagnosis differences across studies overlapped with regions showing sex differences in neurotypical (NT) cohorts, in particular regions showing NT male>female volumes. Furthermore, studies investigating age-related brain differences across a broad age-span suggest distinct neurodevelopmental patterns in females with ASD. Qualitative comparison across youth and adult studies also supported this hypothesis. However, many studies collapsed across age, which may mask differences. Furthermore, accumulating evidence supports the female protective effect in ASD, although only one study examined brain circuits implicated in “protection.” When synthesized with the broader literature, brain-based sex differences in ASD may come from various sources, including genetic and endocrine processes involved in brain “masculinization” and “feminization” across early development, puberty, and other lifespan windows of hormonal transition. Furthermore, sex-related biology may interact with peripheral processes, in particular the stress axis and brain arousal system, to produce distinct neurodevelopmental patterns in males and females with ASD. Future research on neuroimaging-based sex differences in ASD would benefit from a lifespan approach in well-controlled and multivariate studies. Possible relationships between behavior, sex hormones, and brain development in ASD remain largely unexamined.25/759Secondary AnalysisShared
Gender differences in restricted and repetitive behaviors and interests in autismBackground: The female autism phenotype has been defined by differences in core autism spectrum disorder (ASD) symptomology related to reciprocal social communication and restricted and repetitive behaviors and interests (RRBI). Previous research on RRBI in ASD has found that affected boys have increased stereotyped and restricted behaviors compared to girls with ASD (Hiller, Young, & Weber, 2014; Mandy et al., 2012). Other domains of RRBI (i.e., self-injurious, compulsive, and insistence on sameness behaviors), which contribute to DSM-5 diagnosis, are less studied and have not been examined across gender. To date, no studies have examined gender differences using a comprehensive RRBI measure, which spans stereotyped, self-injurious, compulsive, insistence on sameness, and restricted behavior domains. Objectives: To investigate whether symptoms of RRBI (i.e., stereotyped, self-injurious, ritualistic, compulsive, insistence on sameness, and restricted behavior), as measured by item-level data on the Repetitive Behavior Scale-Revised (RBS-R), can classify males versus females with ASD. Methods: Participants included 615 youth with ASD (507 males; 82.4%), between 3 and 18 years of age (M=10.26, SD=4.20), who agreed to share data with the National Database for Autism Research (NDAR). A stepwise discriminant function analysis (DFA) was used to predict the degree RBS-R data could correctly classify gender in a large sample of individuals with ASD. Standardized canonical function coefficients (SCFC) from the DFA represent the contribution of each variable to the discrimination between groups, with greater SCFC indicating greater discrimination. Results: DFA results suggest that RBS-R items significantly differentiate girls versus boys with ASD, Wilks’ λ=0.89, χ2=70.79, p<0.001. Of note, gender was classified based on a set of 8 items (see table 1). Interestingly, the items that differentiated boys from girls did not solely consist of higher stereotyped and restricted behavior in boys (as indicated by negative SCFC scores). Half of the items that differentiated gender were higher in females with ASD (as indicated by positive SCFC scores) and from the self-injurious, compulsive, and insistence on sameness domains. This set of RBS-R items had greater success in correctly classifying boys with ASD (67.90%) than in correctly classifying affected girls (61.00%). Conclusions: This study extends findings of gender differences in RRBI for ASD, demonstrating that girls with ASD may demonstrate higher self-injurious, compulsive, and insistence on sameness behavior than affected boys. It is important for future research to disentangle whether these elevated rates of RRBI in girls with ASD are central to the female autism phenotype or an epiphenomenon of the high rates of co-occurring disorders (e.g., anxiety) noted in affected girls. 1/612Secondary AnalysisPrivate
Can we improve the precision of the ADOS? An application of Item Response TheoryThe current study examined the measurement precision of the Autism Diagnostic Observation Schedule (ADOS) across the continuum of severity of autism spectrum disorder (ASD) traits. Modules 3 and 4 of the ADOS assess two domains of ASD (Social Affect and Restrictive and Repetitive Behaviors (RRB)) among verbally fluent adolescents and adults. Currently, scores for these two domains are produced using only a subset of the administered items. Given prior findings demonstrating the poor reliability of the RRB domain, this study examined whether measurement precision of the ASD domains measured by ADOS can be improved by incorporating items that are collected but not scored in the current diagnostic algorithm. Measurement precision is estimated using item response theory (IRT) models, which allows for an examination of reliability across a continuum of ASD domain severity. Results suggest that although the ADOS Module 3 and 4 measuring Social Affect are already very reliable near mean levels of the trait, adding additional items can improve the reliability of scores at moderately low and moderately high levels of Social Affect. However, even with additional items, the ADOS Modules 3 and 4 do not allow for reliable measurement of RRB with adolescents and young adults. 1/423Secondary AnalysisPrivate
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