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. 

NDA Help Center

Login Dialog

Frequently Asked Questions

Glossary

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.

Loading...

Login
Reset Password

NDA provides a single access to de-identified autism research data. For permission to download data, you will need an NDA account with approved access to NDA or a connected repository (AGRE, IAN, or the ATP). For NDA access, you need to be a research investigator sponsored by an NIH recognized institution with federal wide assurance. See Request Access for more information.

Warning Notice

This is a U.S. Government computer system, which may be accessed and used only for authorized Government business by authorized personnel. Unauthorized access or use of this computer system may subject violators to criminal, civil, and/or administrative action. All information on this computer system may be intercepted, recorded, read, copied, and disclosed by and to authorized personnel for official purposes, including criminal investigations. Such information includes sensitive data encrypted to comply with confidentiality and privacy requirements. Access or use of this computer system by any person, whether authorized or unauthorized, constitutes consent to these terms. There is no right of privacy in this system.

Update Password

You have logged in with a temporary password. Please update your password. Passwords must contain 8 or more characters and must contain at least 3 of the following types of characters:

  • Uppercase
  • Lowercase
  • Numbers
  • Special Characters limited to: %,_,!,@,#,$,-,%,&,+,=,),(,*,^,:,;

Subscribe to our mailing list

Mailing List(s)
Email Format

You are now leaving the NIMH Data Archive (NDA) web site to go to:

Click on the address above if the page does not change within 10 seconds.

Disclaimer

NDA is not responsible for the content of this external site and does not monitor other web sites for accuracy.

Accept Terms
Filter Cart
No filters selected
Description
Value Range
Notes
Data Structures with shared data
No filters have been selected
Switch User

1 Numbers reported are subjects by age
New Trial
New Project

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

Please select an experiment type below

Collection - Use Existing Experiment

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

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

SelectExperiment IdExperiment NameExperiment Type
  • Select One
  • EEG
  • EGG
  • Eye Tracking
  • Omics
  • fMRI
Created On
1873child fNIRS (5/7yr)EEG12/03/2021
1872Child ERP (5/7yr)EEG12/03/2021
1871TREAT-BD_fMRIfMRI12/03/2021
1870iCereMotorPilot_MotorTaskfMRI12/02/2021
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
Collection - Add Experiment
Add Supporting Documentation
Select File

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.

Request Submission Exemption
Characters Remaining:
Not Eligible

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

Collection Updated

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

[CMS] Attention

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

[CMS] Error

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

Delete Submission Exemption
Are you sure you want to delete this submission exemption?
You have requested to move the sharing dates for the following assessments:
Data Expected Item Original Sharing Date New Sharing Date

Please provide a reason for this change, which will be sent to the Program Officers listed within this collection:

Explanation must be between 20 and 200 characters in length.

Please press Save or Cancel
Add New Email Address - Dialog
New Email Address
Shared
Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
UIC ACE: Translational Studies of Insistence on Sameness in Autism
Ed Cook 
The UIC ACE was focused on the genetics, neurobiology, cognitive and affective processes, and pharmacology of insistence on sameness (IS) in autism spectrum disorders (ASD). A large sample of children with self-reported autism spectrum disorder will be screened by the Assessment Core for further screening by administration of the ADI-R to the parents. Probands meeting ADI-R criteria for autistic disorder will be recruited for further study if they are also classified by the ADI-R IS items as high (N=150) or low IS (N=100). In addition, high IS subjects will need to score 15 or more on the sum of two IS factors on the RBS-R to avoid floor effects for the pharmacogenetic trial. These 250 subjects will all be included in project I, Genetics of Serotonin in Autism: Neurochemical and Clinical Endophenotypes, along with 225 previously studied subjects and their parents for a total of 475 trios. This project will study 25 serotonin- related genes for association with autism and with IS more specifically. Resequencing of strong candidate genes will be conducted with all of the subjects in the pharmacogenetic project (III) and with the low IS subjects in project II. In addition, the 250 subjects will have serotonin measures collected for analysis with genetic and phenotype measures. In Project II: Translational Studies of Cognitive, Affective and Neurochemical Processes Underlying Insistence on Sameness in Autism, fMRI studies of IS will be conducted on 50 high IS subjects also in Project III, 50 low IS subjects (also in Project I) and 50 control subjects. In addition, rat studies in which parallel behavioral and neurochemical approaches will be used. Project III: The Pharmacogenetics of Treatment for Insistence on Sameness in Autism has been designed to replicate and extend a preliminary study of escitalopram treatment of IS related irritability in ASD. Project IV: Autism-Associated Serotonin Transporter (SERT) Mutations will provide characterization of mutations previously found to be associated with high IS behaviors in subjects with autism.
NIMH Data Archive
NIMH Data Archive
Autism Centers of Excellence (ACE)
Funding Completed
Close Out
Shared
No
$9,528,855.00
747
Loading Chart...
NIH - Extramural None


P50HD055751-01 ACE: Translational Studies of Insistence on Sameness in Autism 08/06/2007 07/31/2014 800 680 UNIVERSITY OF ILLINOIS AT CHICAGO $9,528,855.00

IDNameCreated DateStatusType
51Illumina SNP/CNV array09/04/2011ApprovedOmics
52Illumina SNP/CNV array - Omni 109/04/2011ApprovedOmics
2925-HTTLPR04/06/2015ApprovedOmics
409UIC ACE CIDR12/08/2015ApprovedOmics

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 218
Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 230
Autism Diagnostic Observation Schedule (ADOS) - Module 1 (2007) Clinical Assessments 52
Autism Diagnostic Observation Schedule (ADOS) - Module 2 (2007) Clinical Assessments 31
Autism Diagnostic Observation Schedule (ADOS) - Module 4 Clinical Assessments 66
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 44
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 31
Autism Diagnostic Observation Schedule (ADOS)- Module 3 Clinical Assessments 112
Autism Diagnostic Observation Schedule (ADOS)- Module 3 (2007) Clinical Assessments 59
Autism Diagnostic Observation Schedule (ADOS)- Module 4 Clinical Assessments 1
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1 Clinical Assessments 52
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2 Clinical Assessments 31
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 157
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4 Clinical Assessments 64
Broad Autism Phenotype Questionnaire (BAPQ) Clinical Assessments 318
CELF Preschool-2 Clinical Assessments 13
CELF-4 Clinical Eval of Lang Fundamentals, 4th ed Clinical Assessments 76
CHARGE Family Characteristics Questionnaire Clinical Assessments 159
CHARGE Medical History Clinical Assessments 189
CHARGE Physical Exam Clinical Assessments 252
Childhood Routines Inventory (CRI) Clinical Assessments 144
Children's Scale of Hostility and Aggression: Reactive/Proactive Clinical Assessments 48
Clinical Global Impression (CGI) Clinical Assessments 41
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 165
DAS-II:Differential Ability Scales 2nd Ed. Early Years Clinical Assessments 70
Demographics Clinical Assessments 263
Expressive One-Word Picture Vocabulary Test (2000) Clinical Assessments 154
Genomics Sample Genomics 536
Genomics Subject Genomics 537
Image Imaging 58
Karyotype Clinical Assessments 243
Modified CHARGE Family Medical History (2007) Clinical Assessments 154
Modified CHARGE Family Medical History (rev July 2007) Clinical Assessments 1
Mullen Scales of Early Learning Clinical Assessments 30
Neurochemicals Test Form Genomics 594
Obsessive-Compulsive Inventory - Revised (OCI-R) Clinical Assessments 48
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 153
Peabody Picture Vocabulary Test, Fourth Edition-Form B Clinical Assessments 36
Preschool Language Scale, Fourth Edition (PLS-4) Clinical Assessments 18
Ravens Coloured Progressive Matrices (CPM) Clinical Assessments 10
Repetitive Behavior Scale - Revised (RBS-R) Clinical Assessments 221
Research Subject Clinical Assessments 256
SRS-2. Adult, Preschool and School Age Clinical Assessments 238
Social Communication Questionnaire (SCQ) - Current Form Clinical Assessments 29
Social Communication Questionnaire (SCQ) - Lifetime Clinical Assessments 271
Social Responsiveness Scale (SRS) Clinical Assessments 183
Social Responsiveness Scale (SRS) - Adult Version Clinical Assessments 3
Social Responsiveness Scale (SRS) - Adult/Self Version Clinical Assessments 50
Tanner Sexual Maturity Scale Clinical Assessments 146
Vineland-II - Survey Form (2005) Clinical Assessments 220
Wechsler Abbreviated Scale of Intelligence (WASI) Clinical Assessments 105
Wechsler Adult Intelligence Scale Fourth Edition [part 1] Clinical Assessments 2

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
31729143Study (784)Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.American journal of medical genetics. Part ABojanek, Erin K; Mosconi, Matthew W; Guter, Stephen; Betancur, Catalina; Macmillan, Carol; Cook, Edwin HJanuary 2020Relevant
30927179Study (543)Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder.Journal of autism and developmental disordersAaron, Elizabeth; Montgomery, Alicia; Ren, Xinguo; Guter, Stephen; Anderson, George; Carneiro, Ana M D; Jacob, Suma; Mosconi, Matthew; Pandey, Ghanshyam N; Cook, Edwin; Veenstra-VanderWeele, JeremyJune 2019Relevant
30392628Study (544)Maternal Serotonin Levels Are Associated With Cognitive Ability and Core Symptoms in Autism Spectrum Disorder.Journal of the American Academy of Child and Adolescent PsychiatryMontgomery AK, Shuffrey LC, Guter SJ, Anderson GM, Jacob S, Mosconi MW, Sweeney JA, Turner JB, Sutcliffe JS, Cook EH, Veenstra-VanderWeele JNovember 2018Relevant
29374536Create StudyCognitive Flexibility Deficits Following 6-OHDA Lesions of the Rat Dorsomedial Striatum.NeuroscienceGrospe GM, Baker PM, Ragozzino MEMarch 2018Not Relevant
29193861Create StudyThe adenosine A2A receptor agonist, CGS 21680, attenuates a probabilistic reversal learning deficit and elevated grooming behavior in BTBR mice.Autism research : official journal of the International Society for Autism ResearchAmodeo, Dionisio A; Cuevas, Laura; Dunn, Jeffrey T; Sweeney, John A; Ragozzino, Michael EFebruary 1, 2018Not Determined
29052841Create StudyCognitive mechanisms of inhibitory control deficits in autism spectrum disorder.Journal of child psychology and psychiatry, and allied disciplinesSchmitt LM, White SP, Cook EH, Sweeney JA, Mosconi MWOctober 2017Relevant
28540026Create StudyMeta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.Molecular autismAutism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium2017Relevant
28407363Create StudyDe novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.American journal of medical genetics. Part ASagar, Angela; Pinto, Dalila; Najjar, Fedra; Guter, Stephen J; Macmillan, Carol; Cook, Edwin HJune 1, 2017Relevant
28401654Create StudyIs there sexual dimorphism of hyperserotonemia in autism spectrum disorder?Autism research : official journal of the International Society for Autism ResearchShuffrey LC, Guter SJ, Delaney S, Jacob S, Anderson GM, Sutcliffe JS, Cook EH, Veenstra-VanderWeele JApril 12, 2017Relevant
28344757Study (416)Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.Molecular autismChen R, Davis LK, Guter S, Wei Q, Jacob S, Potter MH, Cox NJ, Cook EH, Sutcliffe JS, Li B2017Relevant
27940149Create StudyClose genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs.GenomicsZhu Z, Lu X, Yuan D, Huang SJanuary 2017Not Determined
27920663Study (427)ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.Frontiers in neuroscienceFrancis, Sunday M; Kim, Soo-Jeong; Kistner-Griffin, Emily; Guter, Stephen; Cook, Edwin H; Jacob, SumaJanuary 2016Relevant
27727243Create StudyAlterations in the functional neural circuitry supporting flexible choice behavior in autism spectrum disorders.Translational psychiatryD'Cruz AM, Mosconi MW, Ragozzino ME, Cook EH, Sweeney JAOctober 2016Not Determined
27717169Create Study5HT2A receptor blockade in dorsomedial striatum reduces repetitive behaviors in BTBR mice.Genes, brain, and behaviorAmodeo DA, Rivera E, Cook EH, Sweeney JA, Ragozzino MESeptember 2016Not Determined
27328765Create StudyThe impact of genotype calling errors on family-based studies.Scientific reportsYan Q, Chen R, Sutcliffe JS, Cook EH, Weeks DE, Li B, Chen WJune 2016Not Determined
27267245Create StudyCognitive flexibility impairment and reduced frontal cortex BDNF expression in the ouabain model of mania.NeuroscienceAmodeo DA, Grospe G, Zang H, Dwivedi Y, Ragozzino MEJune 2016Relevant
27242401Study (404)Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.Frontiers in neuroscienceFrancis SM, Kistner-Griffin E, Yan Z, Guter S, Cook EH, Jacob S2016Relevant
27155985Create StudyMotor Memory Deficits Contribute to Motor Impairments in Autism Spectrum Disorder.Journal of autism and developmental disordersNeely, Kristina A; Mohanty, Suman; Schmitt, Lauren M; Wang, Zheng; Sweeney, John A; Mosconi, Matthew WJuly 1, 2019Not Determined
26976089Create StudyPedunculopontine tegmental nucleus lesions impair probabilistic reversal learning by reducing sensitivity to positive reward feedback.Neurobiology of learning and memorySyed A, Baker PM, Ragozzino MEMay 2016Not Relevant
26744772Create StudyConfirmation of the Factor Structure and Measurement Invariance of the Children's Scale of Hostility and Aggression: Reactive/Proactive in Clinic-Referred Children With and Without Autism Spectrum Disorder.Journal of child and adolescent psychopharmacologyFarmer CA, Kaat AJ, Mazurek MO, Lainhart JE, DeWitt MB, Cook EH, Butter EM, Aman MGFebruary 2016Not Determined
26608837Create StudyThe sensitivity and specificity of the social communication questionnaire for autism spectrum with respect to age.Autism research : official journal of the International Society for Autism ResearchBarnard-Brak L, Brewer A, Chesnut S, Richman D, Schaeffer AMNovember 26, 2015Not Determined
26463344Create StudySignificant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications.Acta neuropathologica communicationsWegiel, Jerzy; Flory, Michael; Schanen, N Carolyn; Cook, Edwin H; Nowicki, Krzysztof; Kuchna, Izabela; Imaki, Humi; Ma, Shuang Yong; Wegiel, Jarek; London, Eric; Casanova, Manuel F; Wisniewski, Thomas; Brown, W Ted2015Not Determined
26335740Create StudySensorimotor dysfunctions as primary features of autism spectrum disorders.Science China. Life sciencesMosconi MW, Sweeney JAOctober 2015Not Determined
26313485Create StudyEscitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in autism spectrum disorder.Pharmacogenetics and genomicsBishop JR, Najjar F, Rubin LH, Guter SJ, Owley T, Mosconi MW, Jacob S, Cook EHNovember 2015Relevant
26262902Create StudyPharmacogenetic Study of Serotonin Transporter and 5HT2A Genotypes in Autism.Journal of child and adolescent psychopharmacologyNajjar F, Owley T, Mosconi MW, Jacob S, Hur K, Guter SJ, Sweeney JA, Gibbons RD, Cook EH, Bishop JRAugust 2015Not Determined
26239494Create StudyRelative Timing Between Kappa Opioid Receptor Activation and Cocaine Determines the Impact on Reward and Dopamine Release.Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyChartoff EH, Ebner SR, Sparrow A, Potter D, Baker PM, Ragozzino ME, Roitman MFMarch 2016Not Determined
26151311Create StudyAn ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data.Journal of biomedical informaticsMugzach O, Peleg M, Bagley SC, Guter SJ, Cook EH, Altman RBAugust 2015Not Determined
25653359Create StudyFeedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder.The Journal of neuroscience : the official journal of the Society for NeuroscienceMosconi MW, Mohanty S, Greene RK, Cook EH, Vaillancourt DE, Sweeney JAFebruary 4, 2015Not Relevant
25568282Create StudyA haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.Bioinformatics (Oxford, England)Chen R, Wei Q, Zhan X, Zhong X, Sutcliffe JS, Cox NJ, Cook EH, Li C, Chen W, Li BMay 1, 2015Not Relevant
25409314Create StudyProtein interaction networks reveal novel autism risk genes within GWAS statistical noise.PloS oneCorreia, Catarina; Oliveira, Guiomar; Vicente, Astrid M2014Not Determined
25400899Create StudySaccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem.Molecular autismSchmitt LM, Cook EH, Sweeney JA, Mosconi MWJanuary 2014Not Determined
25363760Create StudySynaptic, transcriptional and chromatin genes disrupted in autism.NatureDe Rubeis, Silvia; He, Xin; Goldberg, Arthur P; Poultney, Christopher S; Samocha, Kaitlin; Cicek, A Erucment; Kou, Yan; Liu, Li; Fromer, Menachem; Walker, Susan; Singh, Tarinder; Klei, Lambertus; Kosmicki, Jack; Shih-Chen, Fu; Aleksic, Branko; Biscaldi, Monica; Bolton, Patrick F; Brownfeld, Jessica M; Cai, Jinlu; Campbell, Nicholas G; Carracedo, Angel; Chahrour, Maria H; Chiocchetti, Andreas G; Coon, Hilary; Crawford, Emily L; Curran, Sarah R; Dawson, Geraldine; Duketis, Eftichia; Fernandez, Bridget A; Gallagher, Louise; Geller, Evan; Guter, Stephen J; Hill, R Sean; Ionita-Laza, Juliana; Jimenz Gonzalez, Patricia; Kilpinen, Helena; Klauck, Sabine M; Kolevzon, Alexander; Lee, Irene; Lei, Irene; Lei, Jing; Lehtimäki, Terho; Lin, Chiao-Feng; Ma'ayan, Avi; Marshall, Christian R; McInnes, Alison L; Neale, Benjamin; Owen, Michael J; Ozaki, Noriio; Parellada, Mara; Parr, Jeremy R; Purcell, Shaun; Puura, Kaija; Rajagopalan, Deepthi; Rehnström, Karola; Reichenberg, Abraham; Sabo, Aniko; Sachse, Michael; Sanders, Stephan J; Schafer, Chad; Schulte-Rüther, Martin; Skuse, David; Stevens, Christine; Szatmari, Peter; Tammimies, Kristiina; Valladares, Otto; Voran, Annette; Li-San, Wang; Weiss, Lauren A; Willsey, A Jeremy; Yu, Timothy W; Yuen, Ryan K C; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook, Edwin H; Freitag, Christine M; Gill, Michael; Hultman, Christina M; Lehner, Thomas; Palotie, Aaarno; Schellenberg, Gerard D; Sklar, Pamela; State, Matthew W; Sutcliffe, James S; Walsh, Christiopher A; Scherer, Stephen W; Zwick, Michael E; Barett, Jeffrey C; Cutler, David J; Roeder, Kathryn; Devlin, Bernie; Daly, Mark J; Buxbaum, Joseph DNovember 13, 2014Not Relevant
25307299Create StudyStructural architecture of SNP effects on complex traits.American journal of human geneticsGamazon, Eric R; Cox, Nancy J; Davis, Lea KNovember 6, 2014Not Relevant
25270638Create StudyConsensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.Bioinformatics (Oxford, England)Trubetskoy V, Rodriguez A, Dave U, Campbell N, Crawford EL, Cook EH, Sutcliffe JS, Foster I, Madduri R, Cox NJ, Davis LKJanuary 15, 2015Not Relevant
25234483Create StudyCognitive set shifting deficits and their relationship to repetitive behaviors in autism spectrum disorder.Journal of autism and developmental disordersMiller HL, Ragozzino ME, Cook EH, Sweeney JA, Mosconi MWMarch 2015Not Relevant
25165445Create StudyOxotremorine treatment reduces repetitive behaviors in BTBR T+ tf/J mice.Frontiers in synaptic neuroscienceAmodeo, Dionisio A; Yi, Julia; Sweeney, John A; Ragozzino, Michael EJanuary 1, 2014Not Determined
25131546Create StudyEpigenetic mechanisms in autism spectrum disorder.International review of neurobiologyZhubi A, Cook EH, Guidotti A, Grayson DR2014Not Relevant
25086666Create StudyA framework for the interpretation of de novo mutation in human disease.Nature geneticsSamocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, et al.September 2014Not Relevant
25038753Create StudyMost genetic risk for autism resides with common variation.Nature geneticsGaugler, Trent; Klei, Lambertus; Sanders, Stephan J; Bodea, Corneliu A; Goldberg, Arthur P; Lee, Ann B; Mahajan, Milind; Manaa, Dina; Pawitan, Yudi; Reichert, Jennifer; Ripke, Stephan; Sandin, Sven; Sklar, Pamela; Svantesson, Oscar; Reichenberg, Abraham; Hultman, Christina M; Devlin, Bernie; Roeder, Kathryn; Buxbaum, Joseph DAugust 2014Not Determined
25028395Create StudyContralateral disconnection of the rat prelimbic cortex and dorsomedial striatum impairs cue-guided behavioral switching.Learning & memory (Cold Spring Harbor, N.Y.)Baker PM, Ragozzino MEAugust 2014Not Relevant
24894823Create StudyRisperidone and the 5-HT2A Receptor Antagonist M100907 Improve Probabilistic Reversal Learning in BTBR T¿+¿tf/J Mice.Autism research : official journal of the International Society for Autism ResearchAmodeo DA, Jones JH, Sweeney JA, Ragozzino MEOctober 2014Not Relevant
24768552Create StudyConvergence of genes and cellular pathways dysregulated in autism spectrum disorders.American journal of human geneticsPinto, Dalila; Delaby, Elsa; Merico, Daniele; Barbosa, Mafalda; Merikangas, Alison; Klei, Lambertus; Thiruvahindrapuram, Bhooma; Xu, Xiao; Ziman, Robert; Wang, Zhuozhi; Vorstman, Jacob A S; Thompson, Ann; Regan, Regina; Pilorge, Marion; Pellecchia, Giovanna; Pagnamenta, Alistair T; Oliveira, Bárbara; Marshall, Christian R; Magalhaes, Tiago R; Lowe, Jennifer K; Howe, Jennifer L; Griswold, Anthony J; Gilbert, John; Duketis, Eftichia; Dombroski, Beth A; De Jonge, Maretha V; Cuccaro, Michael; Crawford, Emily L; Correia, Catarina T; Conroy, Judith; Conceição, Inês C; Chiocchetti, Andreas G; Casey, Jillian P; Cai, Guiqing; Cabrol, Christelle; Bolshakova, Nadia; Bacchelli, Elena; Anney, Richard; Gallinger, Steven; Cotterchio, Michelle; Casey, Graham; Zwaigenbaum, Lonnie; Wittemeyer, Kerstin; Wing, Kirsty; Wallace, Simon; van Engeland, Herman; Tryfon, Ana; Thomson, Susanne; Soorya, Latha; Rogé, Bernadette; Roberts, Wendy; Poustka, Fritz; Mouga, Susana; Minshew, Nancy; McInnes, L Alison; McGrew, Susan G; Lord, Catherine; Leboyer, Marion; Le Couteur, Ann S; Kolevzon, Alexander; Jiménez González, Patricia; Jacob, Suma; Holt, Richard; Guter, Stephen; Green, Jonathan; Green, Andrew; Gillberg, Christopher; Fernandez, Bridget A; Duque, Frederico; Delorme, Richard; Dawson, Geraldine; Chaste, Pauline; Café, Cátia; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F; Bölte, Sven; Bernier, Raphael; Baird, Gillian; Bailey, Anthony J; Anagnostou, Evdokia; Almeida, Joana; Wijsman, Ellen M; Vieland, Veronica J; Vicente, Astrid M; Schellenberg, Gerard D; Pericak-Vance, Margaret; Paterson, Andrew D; Parr, Jeremy R; Oliveira, Guiomar; Nurnberger, John I; Monaco, Anthony P; Maestrini, Elena; Klauck, Sabine M; Hakonarson, Hakon; Haines, Jonathan L; Geschwind, Daniel H; Freitag, Christine M; Folstein, Susan E; Ennis, Sean; Coon, Hilary; Battaglia, Agatino; Szatmari, Peter; Sutcliffe, James S; Hallmayer, Joachim; Gill, Michael; Cook, Edwin H; Buxbaum, Joseph D; Devlin, Bernie; Gallagher, Louise; Betancur, Catalina; Scherer, Stephen WMay 1, 2014Not Determined
24634087Create StudyA deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.Autism research : official journal of the International Society for Autism ResearchCeroni F, Sagar A, Simpson NH, Gawthrope AJ, Newbury DF, Pinto D, Francis SM, Tessman DC, Cook EH, Monaco AP, Maestrini E, Pagnamenta AT, Jacob SApril 2014Not Relevant
24497627Create StudyAggression in children with autism spectrum disorders and a clinic-referred comparison group.Autism : the international journal of research and practiceFarmer C, Butter E, Mazurek MO, Cowan C, Lainhart J, Cook EH, Dewitt MB, Aman MApril 2015Not Determined
24475125Create StudyExpression of microRNAs and other small RNAs in prefrontal cortex in schizophrenia, bipolar disorder and depressed subjects.PloS oneSmalheiser, Neil R; Lugli, Giovanni; Zhang, Hui; Rizavi, Hooriyah; Cook, Edwin H; Dwivedi, Yogesh2014Not Relevant
24448211Create StudyIncreased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.Translational psychiatryZhubi A, Chen Y, Dong E, Cook EH, Guidotti A, Grayson DR2014Not Relevant
24365486Create StudyVisual motion processing and visual sensorimotor control in autism.Journal of the International Neuropsychological Society : JINSTakarae Y, Luna B, Minshew NJ, Sweeney JAJanuary 2014Not Determined
24246555Create StudyThe prelimbic cortex and subthalamic nucleus contribute to cue-guided behavioral switching.Neurobiology of learning and memoryBaker PM, Ragozzino MEJanuary 2014Not Relevant
23979605Create StudyDe novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.Molecular psychiatryHamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, , Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli ADaly MJGibbs RABoerwinkle EBuxbaum JDCook EHDevlin BLim ETNeale BMRoeder KSabo ASchellenberg GDStevens CSutcliffe JSDecember 2013Not Determined
23956104Create StudyParental broader autism subphenotypes in ASD affected families: relationship to gender, child's symptoms, SSRI treatment, and platelet serotonin.Autism research : official journal of the International Society for Autism ResearchLevin-Decanini T, Maltman N, Francis SM, Guter S, Anderson GM, Cook EH, Jacob SDecember 2013Relevant
23704935Create StudyDynamic regulation of extracellular signal-regulated kinase (ERK) by protein phosphatase 2A regulatory subunit B56γ1 in nuclei induces cell migration.PloS oneKawahara E, Maenaka S, Shimada E, Nishimura Y, Sakurai H2013Not Relevant
23704934Create StudySaccade adaptation abnormalities implicate dysfunction of cerebellar-dependent learning mechanisms in Autism Spectrum Disorders (ASD).PloS oneMosconi, Matthew W; Luna, Beatriz; Kay-Stacey, Margaret; Nowinski, Caralynn V; Rubin, Leah H; Scudder, Charles; Minshew, Nancy; Sweeney, John A2013Not Relevant
23593035Create StudyAnalysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.PLoS geneticsLiu, Li; Sabo, Aniko; Neale, Benjamin M; Nagaswamy, Uma; Stevens, Christine; Lim, Elaine; Bodea, Corneliu A; Muzny, Donna; Reid, Jeffrey G; Banks, Eric; Coon, Hillary; Depristo, Mark; Dinh, Huyen; Fennel, Tim; Flannick, Jason; Gabriel, Stacey; Garimella, Kiran; Gross, Shannon; Hawes, Alicia; Lewis, Lora; Makarov, Vladimir; Maguire, Jared; Newsham, Irene; Poplin, Ryan; Ripke, Stephan; Shakir, Khalid; Samocha, Kaitlin E; Wu, Yuanqing; Boerwinkle, Eric; Buxbaum, Joseph D; Cook Jr, Edwin H; Devlin, Bernie; Schellenberg, Gerard D; Sutcliffe, James S; Daly, Mark J; Gibbs, Richard A; Roeder, KathrynApril 2013Not Relevant
23527643Create StudyReduced behavioral flexibility in autism spectrum disorders.NeuropsychologyD'Cruz AM, Ragozzino ME, Mosconi MW, Shrestha S, Cook EH, Sweeney JAMarch 2013Not Determined
23443968Create StudyCo-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.American journal of medical genetics. Part ASagar A, Bishop JR, Tessman DC, Guter S, Martin CL, Cook EHApril 2013Not Relevant
23352160Create StudyRare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.NeuronLim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, et al.January 23, 2013Not Determined
23303926Create StudyAmphetamine paradoxically augments exocytotic dopamine release and phasic dopamine signals.The Journal of neuroscience : the official journal of the Society for NeuroscienceDaberkow DP, Brown HD, Bunner KD, Kraniotis SA, Doellman MA, Ragozzino ME, Garris PA, Roitman MFJanuary 9, 2013Not Relevant
22843504Create StudyIndividual common variants exert weak effects on the risk for autism spectrum disorders.Human molecular geneticsAnney, Richard; Klei, Lambertus; Pinto, Dalila; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Casey, Jillian; Conroy, Judith; Correia, Catarina; Corsello, Christina; Crawford, Emily L; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Green, Andrew; Green, Jonathan; Guter, Stephen J; Heron, Elizabeth A; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Jacob, Suma; Kenny, Graham P; Kim, Cecilia; Kolevzon, Alexander; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Law-Smith, Miriam; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Liu, Xiao-Qing; Lombard, Frances; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Magalhaes, Tiago R; Mantoulan, Carine; McDougle, Christopher J; Melhem, Nadine M; Merikangas, Alison; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Noakes, Carolyn; Nygren, Gudrun; Papanikolaou, Katerina; Pagnamenta, Alistair T; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Posey, David J; Poustka, Fritz; Ragoussis, Jiannis; Regan, Regina; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Schlitt, Sabine; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Sykes, Nuala; Tancredi, Raffaella; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Vorstman, J A S; Wallace, Simon; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Bailey, Anthony J; Battaglia, Agatino; Cantor, Rita M; Coon, Hilary; Cuccaro, Michael L; Dawson, Geraldine; Ennis, Sean; Freitag, Christine M; Geschwind, Daniel H; Haines, Jonathan L; Klauck, Sabine M; McMahon, William M; Maestrini, Elena; Miller, Judith; Monaco, Anthony P; Nelson, Stanley F; Nurnberger Jr, John I; Oliveira, Guiomar; Parr, Jeremy R; Pericak-Vance, Margaret A; Piven, Joseph; Schellenberg, Gerard D; Scherer, Stephen W; Vicente, Astrid M; Wassink, Thomas H; Wijsman, Ellen M; Betancur, Catalina; Buxbaum, Joseph D; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Hallmayer, Joachim; Paterson, Andrew D; Sutcliffe, James S; Szatmari, Peter; Vieland, Veronica J; Hakonarson, Hakon; Devlin, BernieNovember 1, 2012Not Determined
22721594Create StudyExamining autism spectrum disorders by biomarkers: example from the oxytocin and serotonin systems.Journal of the American Academy of Child and Adolescent PsychiatryHammock E, Veenstra-VanderWeele J, Yan Z, Kerr TM, Morris M, Anderson GM, Carter CS, Cook EH, Jacob SJuly 2012Not Determined
22678932Create StudyRare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.American journal of medical genetics. Part ADavis, L K; Maltman, N; Mosconi, M W; Macmillan, C; Schmitt, L; Moore, K; Francis, S M; Jacob, S; Sweeney, J A; Cook, E HJuly 2012Not Determined
22591576Create StudyLoci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci.Molecular autismDavis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ2012Not Relevant
22511880Create StudyWhole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.PLoS geneticsChahrour, Maria H; Yu, Timothy W; Lim, Elaine T; Ataman, Bulent; Coulter, Michael E; Hill, R Sean; Stevens, Christine R; Schubert, Christian R; ARRA Autism Sequencing Collaboration; Greenberg, Michael E; Gabriel, Stacey B; Walsh, Christopher A2012Not Determined
22495311Create StudyPatterns and rates of exonic de novo mutations in autism spectrum disorders.NatureNeale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, et al.May 10, 2012Not Relevant
22487857Create StudyDifferences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Journal of neuropathology and experimental neurologyWegiel, Jerzy; Schanen, N Carolyn; Cook, Edwin H; Sigman, Marian; Brown, W Ted; Kuchna, Izabela; Nowicki, Krzysztof; Wegiel, Jarek; Imaki, Humi; Ma, Shuang Yong; Marchi, Elaine; Wierzba-Bobrowicz, Teresa; Chauhan, Abha; Chauhan, Ved; Cohen, Ira L; London, Eric; Flory, Michael; Lach, Boleslaw; Wisniewski, ThomasMay 2012Not Relevant
22370873Create StudyConsensus paper: pathological role of the cerebellum in autism.Cerebellum (London, England)Fatemi, S Hossein; Aldinger, Kimberly A; Ashwood, Paul; Bauman, Margaret L; Blaha, Charles D; Blatt, Gene J; Chauhan, Abha; Chauhan, Ved; Dager, Stephen R; Dickson, Price E; Estes, Annette M; Goldowitz, Dan; Heck, Detlef H; Kemper, Thomas L; King, Bryan H; Martin, Loren A; Millen, Kathleen J; Mittleman, Guy; Mosconi, Matthew W; Persico, Antonio M; Sweeney, John A; Webb, Sara J; Welsh, John PSeptember 2012Not Relevant
22219222Create StudyThe selective serotonin reuptake inhibitor, escitalopram, enhances inhibition of prepotent responding and spatial reversal learning.Journal of psychopharmacology (Oxford, England)Brown HD, Amodeo DA, Sweeney JA, Ragozzino MENovember 2012Not Relevant
22135384Create StudyThe selective M1 muscarinic cholinergic agonist CDD-0102A enhances working memory and cognitive flexibility.The Journal of pharmacology and experimental therapeuticsRagozzino ME, Artis S, Singh A, Twose TM, Beck JE, Messer WSMarch 2012Not Relevant
22122410Create StudyPrimary food reward and reward-predictive stimuli evoke different patterns of phasic dopamine signaling throughout the striatum.The European journal of neuroscienceBrown HD, McCutcheon JE, Cone JJ, Ragozzino ME, Roitman MFDecember 2011Not Relevant
22056750Create StudyDifferences in BTBR T+ tf/J and C57BL/6J mice on probabilistic reversal learning and stereotyped behaviors.Behavioural brain researchAmodeo DA, Jones JH, Sweeney JA, Ragozzino MEFebruary 1, 2012Not Relevant
21996756Create StudyA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.Human geneticsCasey, Jillian P; Magalhaes, Tiago; Conroy, Judith M; Regan, Regina; Shah, Naisha; Anney, Richard; Shields, Denis C; Abrahams, Brett S; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Cali, Phil; Correia, Catarina; Corsello, Christina; Coutanche, Marc; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Foley, Suzanne; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Holt, Richard; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Lamb, Janine A; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lord, Catherine; Lund, Sabata C; Maestrini, Elena; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Merikangas, Alison; Miller, Judith; Minopoli, Fiorella; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Nygren, Gudrun; Oliveira, Guiomar; Pagnamenta, Alistair T; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Pickles, Andrew; Pinto, Dalila; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Ragoussis, Jiannis; Roge, Bernadette; Rutter, Michael L; Sequeira, Ana F; Soorya, Latha; Sousa, Inês; Sykes, Nuala; Stoppioni, Vera; Tancredi, Raffaella; Tauber, Maïté; Thompson, Ann P; Thomson, Susanne; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Vorstman, Jacob A S; Wallace, Simon; Wang, Kai; Wassink, Thomas H; White, Kathy; Wing, Kirsty; Wittemeyer, Kerstin; Yaspan, Brian L; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Geschwind, Daniel H; Haines, Jonathan L; Hallmayer, Joachim; Monaco, Anthony P; Nurnberger Jr, John I; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vieland, Veronica J; Wijsman, Ellen M; Green, Andrew; Gill, Michael; Gallagher, Louise; Vicente, Astrid; Ennis, SeanApril 2012Not Determined
21989804Create StudyThe effects of PRX-07034, a novel 5-HT6 antagonist, on cognitive flexibility and working memory in rats.PsychopharmacologyMohler EG, Baker PM, Gannon KS, Jones SS, Shacham S, Sweeney JA, Ragozzino MEApril 2012Not Relevant
21925291Create StudyMitochondrial small RNAs that are up-regulated in hippocampus during olfactory discrimination training in mice.MitochondrionSmalheiser NR, Lugli G, Thimmapuram J, Cook EH, Larson JNovember 2011Not Relevant
21881965Create StudyRepetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.Journal of neurodevelopmental disordersFlores CG, Valcante G, Guter S, Zaytoun A, Wray E, Bell L, Jacob S, Lewis MH, Driscoll DJ, Cook EH, Kim SJDecember 2011Not Relevant
21760656Create StudyEstimation and Classification of BOLD Responses Over Multiple Trials.Communications in statistics: theory and methodsKapur, Kush; Roy, Anindya; Bhaumik, Dulal K; Gibbons, Robert D; Lazar, Nicole A; Sweeney, John A; Aryal, Subhash; Patterson, Dave2009Not Relevant
21753921Create StudyHypothesis testing, power and sample size determination for between group comparisons in fMRI experiments.Statistical methodologyBhaumik, Dulal K; Roy, Anindya; Lazar, Nicole A; Kapur, Kush; Aryal, Subhash; Sweeney, John A; Patterson, Dave; Gibbons, Robert DMarch 2009Not Relevant
21703496Create StudyIdentification of genetic loci underlying the phenotypic constructs of autism spectrum disorders.Journal of the American Academy of Child and Adolescent PsychiatryLiu, Xiao-Qing; Georgiades, Stelios; Duku, Eric; Thompson, Ann; Devlin, Bernie; Cook, Edwin H; Wijsman, Ellen M; Paterson, Andrew D; Szatmari, PeterJuly 2011Not Relevant
21609426Create StudyA quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders.Molecular autismKim SJ, Silva RM, Flores CG, Jacob S, Guter S, Valcante G, Zaytoun AM, Cook EH, Badner JA2011Not Determined
21522181Create StudyGene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.European journal of human genetics : EJHGAnney, Richard J L; Kenny, Elaine M; O'Dushlaine, Colm; Yaspan, Brian L; Parkhomenka, Elena; Buxbaum, Joseph D; Sutcliffe, James; Gill, Michael; Gallagher, Louise; Autism Genome Project; Buxbaum, Joseph D; Sutcliffe, James; Gill, Michael; Gallagher, LouiseOctober 2011Not Determined
21484201Create StudyNovel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.Journal of neurodevelopmental disordersVieland, Veronica J; Hallmayer, Joachim; Huang, Yungui; Pagnamenta, Alistair T; Pinto, Dalila; Khan, Hameed; Monaco, Anthony P; Paterson, Andrew D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Autism Genome Project (AGP)June 2011Not Determined
21302342Create StudyParent-of-origin effects of the serotonin transporter gene associated with autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsKistner-Griffin, Emily; Brune, Camille W; Davis, Lea K; Sutcliffe, James S; Cox, Nancy J; Cook Jr, Edwin HMarch 2011Not Relevant
21281720Create StudyHuman reversal learning under conditions of certain versus uncertain outcomes.NeuroImageD'Cruz AM, Ragozzino ME, Mosconi MW, Pavuluri MN, Sweeney JAMay 1, 2011Not Relevant
21232556Create StudyDifferential effects of 5-HT(2A) and 5-HT(2C) receptor blockade on strategy-switching.Behavioural brain researchBaker PM, Thompson JL, Sweeney JA, Ragozzino MEMay 16, 2011Not Relevant
21085054Create StudyFamily-based association testing of glutamate transporter genes in autism.Psychiatric geneticsJacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJAugust 2011Not Relevant
21045079Create StudyEndogenous siRNAs and noncoding RNA-derived small RNAs are expressed in adult mouse hippocampus and are up-regulated in olfactory discrimination training.RNA (New York, N.Y.)Smalheiser NR, Lugli G, Thimmapuram J, Cook EH, Larson JJanuary 2011Not Relevant
20980596Create StudyThe parafascicular thalamic nucleus concomitantly influences behavioral flexibility and dorsomedial striatal acetylcholine output in rats.The Journal of neuroscience : the official journal of the Society for NeuroscienceBrown HD, Baker PM, Ragozzino MEOctober 27, 2010Not Relevant
20844286Create StudyDisruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.Science translational medicineNoor, Abdul; Whibley, Annabel; Marshall, Christian R; Gianakopoulos, Peter J; Piton, Amelie; Carson, Andrew R; Orlic-Milacic, Marija; Lionel, Anath C; Sato, Daisuke; Pinto, Dalila; Drmic, Irene; Noakes, Carolyn; Senman, Lili; Zhang, Xiaoyun; Mo, Rong; Gauthier, Julie; Crosbie, Jennifer; Pagnamenta, Alistair T; Munson, Jeffrey; Estes, Annette M; Fiebig, Andreas; Franke, Andre; Schreiber, Stefan; Stewart, Alexandre F R; Roberts, Robert; McPherson, Ruth; Guter, Stephen J; Cook Jr, Edwin H; Dawson, Geraldine; Schellenberg, Gerard D; Battaglia, Agatino; Maestrini, Elena; Autism Genome Project Consortium; Jeng, Linda; Hutchison, Terry; Rajcan-Separovic, Evica; Chudley, Albert E; Lewis, Suzanne M E; Liu, Xudong; Holden, Jeanette J; Fernandez, Bridget; Zwaigenbaum, Lonnie; Bryson, Susan E; Roberts, Wendy; Szatmari, Peter; Gallagher, Louise; Stratton, Michael R; Gecz, Jozef; Brady, Angela F; Schwartz, Charles E; Schachar, Russell J; Monaco, Anthony P; Rouleau, Guy A; Hui, Chi-Chung; Lucy Raymond, F; Scherer, Stephen W; Vincent, John BSeptember 15, 2010Not Relevant
20679591Create StudyNeurobehavioral abnormalities in first-degree relatives of individuals with autism.Archives of general psychiatryMosconi MW, Kay M, D'Cruz AM, Guter S, Kapur K, Macmillan C, Stanford LD, Sweeney JAAugust 2010Not Relevant
20663923Create StudyA genome-wide scan for common alleles affecting risk for autism.Human molecular geneticsAnney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Sykes, Nuala; Pagnamenta, Alistair T; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Melhem, Nadine M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Miller, Judith; Monaco, Anthony P; Nurnberger Jr, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, JoachimOctober 15, 2010Not Determined
20531469Create StudyFunctional impact of global rare copy number variation in autism spectrum disorders.NaturePinto, Dalila; Pagnamenta, Alistair T; Klei, Lambertus; Anney, Richard; Merico, Daniele; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Almeida, Joana; Bacchelli, Elena; Bader, Gary D; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Bryson, Susan E; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chung, Brian H Y; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Cytrynbaum, Cheryl; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Andrew; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Pilorge, Marion; Piven, Joseph; Ponting, Chris P; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Sequeira, Ana F; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stein, Olaf; Sykes, Nuala; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Webber, Caleb; Weksberg, Rosanna; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Wu, Jing; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Devlin, Bernie; Ennis, Sean; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Hallmayer, Joachim; Miller, Judith; Monaco, Anthony P; Nurnberger Jr, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Scherer, Stephen W; Sutcliffe, James S; Betancur, CatalinaJuly 15, 2010Not Determined
20089945Create StudyThalamic integrity underlies executive dysfunction in traumatic brain injury.NeurologyLittle DM, Kraus MF, Joseph J, Geary EK, Susmaras T, Zhou XJ, Pliskin N, Gorelick PBFebruary 16, 2010Not Relevant
20020537Create StudyA pharmacogenetic study of escitalopram in autism spectrum disorders.Autism research : official journal of the International Society for Autism ResearchOwley T, Brune CW, Salt J, Walton L, Guter S, Ayuyao N, Gibbons RD, Leventhal BL, Cook EHFebruary 2010Not Determined
19935738Create StudyMaternal transmission of a rare GABRB3 signal peptide variant is associated with autism.Molecular psychiatryDelahanty, R J; Kang, J Q; Brune, C W; Kistner, E O; Courchesne, E; Cox, N J; Cook Jr, E H; Macdonald, R L; Sutcliffe, J SJanuary 2011Not Relevant
19404257Create StudyAutism genome-wide copy number variation reveals ubiquitin and neuronal genes.NatureGlessner, Joseph T; Wang, Kai; Cai, Guiqing; Korvatska, Olena; Kim, Cecilia E; Wood, Shawn; Zhang, Haitao; Estes, Annette; Brune, Camille W; Bradfield, Jonathan P; Imielinski, Marcin; Frackelton, Edward C; Reichert, Jennifer; Crawford, Emily L; Munson, Jeffrey; Sleiman, Patrick M A; Chiavacci, Rosetta; Annaiah, Kiran; Thomas, Kelly; Hou, Cuiping; Glaberson, Wendy; Flory, James; Otieno, Frederick; Garris, Maria; Soorya, Latha; Klei, Lambertus; Piven, Joseph; Meyer, Kacie J; Anagnostou, Evdokia; Sakurai, Takeshi; Game, Rachel M; Rudd, Danielle S; Zurawiecki, Danielle; McDougle, Christopher J; Davis, Lea K; Miller, Judith; Posey, David J; Michaels, Shana; Kolevzon, Alexander; Silverman, Jeremy M; Bernier, Raphael; Levy, Susan E; Schultz, Robert T; Dawson, Geraldine; Owley, Thomas; McMahon, William M; Wassink, Thomas H; Sweeney, John A; Nurnberger, John I; Coon, Hilary; Sutcliffe, James S; Minshew, Nancy J; Grant, Struan F A; Bucan, Maja; Cook, Edwin H; Buxbaum, Joseph D; Devlin, Bernie; Schellenberg, Gerard D; Hakonarson, HakonMay 28, 2009Not Determined
19404256Create StudyCommon genetic variants on 5p14.1 associate with autism spectrum disorders.NatureWang, Kai; Zhang, Haitao; Ma, Deqiong; Bucan, Maja; Glessner, Joseph T; Abrahams, Brett S; Salyakina, Daria; Imielinski, Marcin; Bradfield, Jonathan P; Sleiman, Patrick M A; Kim, Cecilia E; Hou, Cuiping; Frackelton, Edward; Chiavacci, Rosetta; Takahashi, Nagahide; Sakurai, Takeshi; Rappaport, Eric; Lajonchere, Clara M; Munson, Jeffrey; Estes, Annette; Korvatska, Olena; Piven, Joseph; Sonnenblick, Lisa I; Alvarez Retuerto, Ana I; Herman, Edward I; Dong, Hongmei; Hutman, Ted; Sigman, Marian; Ozonoff, Sally; Klin, Ami; Owley, Thomas; Sweeney, John A; Brune, Camille W; Cantor, Rita M; Bernier, Raphael; Gilbert, John R; Cuccaro, Michael L; McMahon, William M; Miller, Judith; State, Matthew W; Wassink, Thomas H; Coon, Hilary; Levy, Susan E; Schultz, Robert T; Nurnberger, John I; Haines, Jonathan L; Sutcliffe, James S; Cook, Edwin H; Minshew, Nancy J; Buxbaum, Joseph D; Dawson, Geraldine; Grant, Struan F A; Geschwind, Daniel H; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Hakonarson, HakonMay 28, 2009Not Relevant
19232577Create StudyLateralized response timing deficits in autism.Biological psychiatryD'Cruz AM, Mosconi MW, Steele S, Rubin LH, Luna B, Minshew N, Sweeney JAAugust 15, 2009Not Relevant
19154646Create StudyImpaired inhibitory control is associated with higher-order repetitive behaviors in autism spectrum disorders.Psychological medicineMosconi, M W; Kay, M; D'Cruz, A-M; Seidenfeld, A; Guter, S; Stanford, L D; Sweeney, J ASeptember 2009Not Relevant
18954478Create StudyPatterns of visual sensory and sensorimotor abnormalities in autism vary in relation to history of early language delay.Journal of the International Neuropsychological Society : JINSTakarae, Yukari; Luna, Beatriz; Minshew, Nancy J; Sweeney, John ANovember 2008Not Relevant
18923514Create StudyCopy-number variations associated with neuropsychiatric conditions.NatureCook EH, Scherer SWOctober 16, 2008Not Relevant
18827719Create StudyIntegrating functional brain neuroimaging and developmental cognitive neuroscience in child psychiatry research.Journal of the American Academy of Child and Adolescent PsychiatryPavuluri MN, Sweeney JANovember 2008Not Relevant
18632090Create StudyGenome-wide linkage analyses of quantitative and categorical autism subphenotypes.Biological psychiatryLiu, Xiao-Qing; Paterson, Andrew D; Szatmari, Peter; Autism Genome Project ConsortiumOctober 2008Not Determined

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
29052841Create StudyCognitive mechanisms of inhibitory control deficits in autism spectrum disorder.Journal of child psychology and psychiatry, and allied disciplinesSchmitt LM, White SP, Cook EH, Sweeney JA, Mosconi MWOctober 2017
28540026Create StudyMeta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.Molecular autismAutism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium2017
28407363Create StudyDe novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.American journal of medical genetics. Part ASagar, Angela; Pinto, Dalila; Najjar, Fedra; Guter, Stephen J; Macmillan, Carol; Cook, Edwin HJune 1, 2017
28401654Create StudyIs there sexual dimorphism of hyperserotonemia in autism spectrum disorder?Autism research : official journal of the International Society for Autism ResearchShuffrey LC, Guter SJ, Delaney S, Jacob S, Anderson GM, Sutcliffe JS, Cook EH, Veenstra-VanderWeele JApril 12, 2017
27267245Create StudyCognitive flexibility impairment and reduced frontal cortex BDNF expression in the ouabain model of mania.NeuroscienceAmodeo DA, Grospe G, Zang H, Dwivedi Y, Ragozzino MEJune 2016
26313485Create StudyEscitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in autism spectrum disorder.Pharmacogenetics and genomicsBishop JR, Najjar F, Rubin LH, Guter SJ, Owley T, Mosconi MW, Jacob S, Cook EHNovember 2015
23956104Create StudyParental broader autism subphenotypes in ASD affected families: relationship to gender, child's symptoms, SSRI treatment, and platelet serotonin.Autism research : official journal of the International Society for Autism ResearchLevin-Decanini T, Maltman N, Francis SM, Guter S, Anderson GM, Cook EH, Jacob SDecember 2013

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

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

Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Mullen Scales of Early Learning info icon
8001/15/2013
30
Approved
Ravens Coloured Progressive Matrices (CPM) info icon
68001/15/2009
10
Approved
Genomics/omics info icon
68001/15/2009
536
Approved
ABC Community info icon
42701/15/2011
218
Approved
ADOS info icon
14408/31/2012
306
Approved
Expressive One-Word Picture Vocabulary Test (2000) info icon
8001/15/2013
154
Approved
ADI-R info icon
68001/15/2009
230
Approved
Medical History info icon
68001/15/2009
201
Approved
Obsessive-Compulsive Inventory - Revised (OCI-R) info icon
8001/15/2013
48
Approved
Social Responsiveness Scale (SRS) info icon
68001/15/2009
239
Approved
Wechsler Abbreviated Scale of Intelligence (WASI) info icon
11001/15/2013
105
Approved
Genetic Test info icon
8001/15/2013
613
Approved
Social Communication Questionnaire (SCQ) info icon
68001/15/2009
297
Approved
Broad Autism Phenotype Questionnaire (BAPQ) info icon
13808/31/2012
318
Approved
Demographics info icon
35001/15/2013
263
Approved
Clinical Global Impression (CGI) info icon
4101/15/2013
41
Approved
Tanner Sexual Maturity Scale info icon
19501/15/2013
146
Approved
DAS-II: Differential Ability Scales info icon
25001/15/2013
231
Approved
Peabody Picture Vocabulary Test, Fourth Edition info icon
8001/15/2013
188
Approved
Wechsler Adult Intelligence Scale info icon
201/15/2013
2
Approved
Childhood Routines Inventory (CRI) info icon
35508/31/2012
144
Approved
Repetitive Behavior Scale - Revised (RBS-R) info icon
68001/15/2009
221
Approved
Preschool Language Scale (PLS) info icon
8001/15/2013
18
Approved
Physical Exam info icon
8001/15/2013
252
Approved
Research Subject and Pedigree info icon
68001/15/2009
598
Approved
Clinical Evaluation of Language Fundamentals (CELF) info icon
40908/31/2012
89
Approved
Childrens Scale of Hostility and Aggression: Reactive/Proactive info icon
4801/15/2013
48
Approved
Vineland (Parent and Caregiver) info icon
68001/15/2009
220
Approved
Imaging (Structural, fMRI, DTI, PET, microscopy) info icon
68001/15/2009
58
Approved
Structure not yet defined

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

Associated Studies

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

Study NameAbstractCollection/Study SubjectsData UsageState
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.260/17423Secondary AnalysisPrivate
Controls for SCCRIPTo establish a well characterized cohort for pediatric patients living with sickle cell disease263/11185Secondary 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. 239/11144Secondary AnalysisPrivate
Characterizing Auditory Hyperreactivity in AutismObjective: To answer the following research questions: 1) What is the prevalence of auditory hyper-reactivity in ASD? 2) Does auditory hyper-reactivity severity change with age? and 3) What are the most common auditory stimuli reported to be bothersome? Research Design: Primarily descriptive secondary data analysis. Methods: Type of data: Questionnaire items regarding auditory hyper-reactivity will be filtered from: Autism Diagnostic Interview-Revised, Sensory Profile (all forms), Sensory Over-Responsivity Scale, and Sensory Experiences Questionnaire in addition to demographics (i.e., age, race, ethnicity, diagnoses). Analysis Plan: Descriptive statistics, tables and figures will be used to summarize the prevalence and severity of auditory hyper-reactivity by age. Linear regression modeling will be used to evaluate changes in auditory hyper-reactivity by age. If data is available for control subjects, statistical analyses will be conducted for means comparison (ASD vs. non-ASD). 230/7001Secondary AnalysisPrivate
The effect of compensatory mechanisms during and after pregnancy on a child's developmentEarly childhood involves rapid processes of human growth leading to different trajectories in physical, cognitive, social, and emotional development (Graignic-Philippe et al., 2014). These processes are influenced by a wide variety of factors such as maternal health, environmental stressors, and early childhood experiences. Current literature has shown how exposure to both acute and chronic stress during pregnancy have a pathogenetic effect throughout childhood (Kim & Leventhal, 2015; Rice, et al, 2010), leading to neurotypical or atypical development. Studies have shown how these stressors are linked neurodevelopmental disorders such Autism Spectrum Disorders (Zerbo et al., 2015; Atladóttir et al., 2012) or Attention Deficit Hyperactivity Disorder (Rosenqvist et al., 2019). In recent years, there has been a shift from traditional diagnostic research models to synthesis of different scientific fields to map lifecourse development in order for rapid translation into healthcare practices (Halfon et al., 2014). Whilst there are studies showing links between stress and atypical developmental outcomes, there is still very limited literature on compensatory mechanisms found pre- and post-pregnancy, which illustrate development of protective factors (such as presence of self-regulation, high verbal intelligence, sociability, adept social communication) against atypical developmental outcomes. This study aims to identify and measure the presence of these protective factors that appear to guard against or mitigate the emergence of neurodevelopmental disorders. Therefore, nationwide and longitudinal data are needed in order to accurately create risk models in order to map developmental trajectories. 295/5717Secondary AnalysisPrivate
Investigating autism etiology and heterogeneity by decision tree algorithmAutism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism. 303/3382Secondary AnalysisShared
Test StudyTest AB747/2480Primary AnalysisPrivate
Psychometric Analysis of the Social Communication Questionnaire Using an Item-Response Theory Framework: Implications for the Use of the Lifetime and Current FormsThe Social Communication Questionnaire (SCQ) was developed as a screener of Autism Spectrum Disorder (ASD). To date, the majority of the SCQ utility studies focused on its external validity (e.g., ROC curve analyses), but very few have addressed the internal validity issues. With samples consisting of 2,134 individuals available from the National Database for Autism Research (NDAR), the current study examined the factor structure, item-level characteristics, and measurement equivalence of the SCQ forms (i.e., Lifetime form and Current form) using both the classical true score theory and the item response theory (IRT). While our findings indicate sufficient psychometric properties of the SCQ Lifetime form, measurement issues emerged with respect to the SCQ Current form. These issues include lower internal consistencies, a weaker factor structure, lower item discriminations, significant pseudo-guessing effects, and subscale-level measurement bias. Thus, we caution researchers and clinicians about the use of the SCQ Current form. In particular, it seems inappropriate to use the Current form as an alternative to the Lifetime form among children younger than 5 years old or under other special situations (e.g., teacher-report data), although such practices were advised by the publisher of the SCQ. Instead, we recommend modifying the wording of the Lifetime form items rather than switching to the Current form where a 3-month timeframe is specified for responding to SCQ items. Future studies may consider investigating the association between the temporality of certain behaviors and the individual’s potential for being diagnosed with ASD, as well as the age neutrality of the SCQ.295/2054Secondary AnalysisShared
Unravelling the Collective Diagnostic Power Behind the Features in the Autism Diagnostic Observation ScheduleBackground: Autism is a group of heterogeneous disorders defined by deficits in social interaction and communication. Typically, diagnosis depends on the results of a behavioural examination called the Autism Diagnostic Observation Schedule (ADOS). Unfortunately, administration of the ADOS exam is time-consuming and requires a significant amount of expert intervention, leading to delays in diagnosis and access to early intervention programs. The diagnostic power of each feature in the ADOS exam is currently unknown. Our hypothesis is that certain features could be removed from the exam without a significant reduction in diagnostic accuracy, sensitivity or specificity. Objective: Determine the smallest subset of predictive features in ADOS module-1 (an exam variant for patients with minimal verbal skills). Methodology: ADOS module-1 datasets were acquired from the Autism Genetic Resource Exchange and the National Database for Autism Research. The datasets contained 2572 samples with the following labels: autism (1763), autism spectrum (513), and non-autism (296). The datasets were used as input to 4 different cost-sensitive classifiers in Weka (functional trees, LADTree, logistic model trees, and PART). For each classifier, a 10-fold cross validation was preformed and the number of predictive features, accuracy, sensitivity, and specificity was recorded. Results & Conclusion: Each classifier resulted in a reduction of the number of ADOS features required for autism diagnosis. The LADtree classifier was able to obtain the largest reduction, utilizing only 10 of 29 ADOS module-1 features (96.8% accuracy, 96.9% sensitivity, and 95.9% specificity). Overall, these results are a step towards a more efficient behavioural exam for autism diagnosis. 44/1832Secondary AnalysisShared
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.253/1820Secondary AnalysisPrivate
Development of a Short Form of the SRS: An Application of IRTBackground: Research and practice in autism spectrum disorder (ASD) rely on quantitative measures, such as the Social Responsiveness Scale (SRS), for characterization and diagnosis. Like many ASD diagnostic measures, SRS scores are influenced by factors unrelated to ASD core features. This study further interrogates the psychometric properties of the SRS using item response theory (IRT), and demonstrates a strategy to enhance measure specificity by applying IRT results. Methods: SRS analyses were conducted on a large sample (N=21,426) of youth from four ASD databases. Items were subjected to item factor analyses and evaluation of item bias by gender, age, and expressive language level. Results: Item selection based on dimensionality and DIF analyses produced a reduced item SRS subscale that was unidimensional in structure, highly reliable (α=.96), and free of gender, age, expressive language, and non-verbal IQ influence. The subscale also showed strong relationships with established measures of autism symptom severity (ADOS, ADI-R, Vineland). Degree of association between all measures varied as a function of expressive language. Conclusions: Results identified specific SRS items that are more vulnerable to non-ASD-related traits. The resultant 16-item SRS subscale may possess superior psychometric properties compared to the original scale and emerge as a more precise measure of ASD core symptom severity, facilitating research and practice. Future research using IRT is needed to further refine existing measures of autism symptomatology. 87/1478Secondary AnalysisPrivate
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using C-PAC pipeline and ANTsAn automated pipeline was developed to reference Neuroimages hosted by the National Database for Autism Research (NDAR) and derive volumes for distinct brain structures using Advanced Normalization Tools (ANTs) and the Configurable-Pipeline for the Analysis of Connectomes (C-PAC) platform. This pipeline utilized the ANTs cortical thickness methodology discuessed in "Large-Scale Evaluation of ANTs and Freesurfer Cortical Tchickness Measurements" [http://www.ncbi.nlm.nih.gov/pubmed/24879923] to extract a cortical thickness volume from T1-weighted anatomical MRI data gathered from the NDAR database. This volume was then registered to an stereotaxic-space anatomical template (OASIS-30 Atropos Template) which was acquired from the Mindboggle Project webpage [http://mindboggle.info/data.html]. After registration, the mean cortical thickness was calculated at 31 ROIs on each hemisphere of the cortex and using the Desikan-Killiany-Tourville (DKT-31) cortical labelling protocol [http://mindboggle.info/faq/labels.html] over the OASIS-30 template. **NOTE: This study is ongoing; additional data my be available in the future.** As a result, each subject that was processed has a cortical thickness volume image and a text file with the mean thickness ROIs (in mm) stored in Amazon Web Services (AWS) Simple Storage Service (S3). Additionally, these results were tabulated in an AWS-hosted database (through NDAR) to enable simple, efficient querying and data access. All of the code used to perform this analysis is publicly available on Github [https://github.com/FCP-INDI/ndar-dev]. Additionally, as a computing platform, we developed an Amazon Machine Image (AMI) that comes fully equipped to run this pipeline on any dataset. Using AWS Elastic Cloud Computing (EC2), users can launch our publicly available AMI ("C-PAC with benchmark", AMI ID: "ami-fee34296", N. Virginia region) and run the ANTs cortical thickness pipeline. The AMI is fully compatible with Sun Grid Engine as well; this enables users to perform many pipeline runs in parallel over a cluster-computing framework.2/1428Secondary AnalysisShared
A Gyrification Analysis Approach Based on Laplace Beltrami Eigenfunction Level-SetsAn accurate measure of the complexity of patterns of cortical folding or gyrification is necessary for understanding normal brain development and neurodevelopmental disorders. Conventional gyrification indices (GIs) are calculated based on surface curvature (curvature-based GI) or an outer hull surface of the cortex (outer surface-based GI). The latter is dependent on the definition of the outer hull surface and a correspondence function between surfaces. In the present study, we propose the Laplace Beltrami-based gyrification index (LB-GI), a new curvature-based local GI computed using the first three Laplace Beltrami eigenfunction level-sets, which addresses shortcomings of the existing methods. The LB-GI was applied to investigate the cortical maturation profile of the human brain from preschool to early adulthood using the PING database. The results showed both positive and negative associations of cortical folding with age and revealed more details in patterns of cortical folding than conventional curvature based methods. It is anticipated that the LB-GI will prove advantageous in large clinical neuroimaging studies. 2/1054Secondary AnalysisPrivate
Automated Autism Diagnosis using Phenotypic and Genotypic Attributes: Phase IThe ultimate goal of this project is to develop a predictive system that can automate the diagnosis process for autism using phenotypic and genotypic attributes for classification. At this time, only a first phase is being pursued: starting with scores from Autism Diagnostic Observation Schedule (ADOS) reports, use data-mining techniques to select the smallest set of the most informative evaluation points that can lead to similar behavioral diagnoses as using all report features. The effort began in March, 2016 after data access to NDAR was granted. This report describes the results from that date through the end of December 2016.42/1045Secondary AnalysisPrivate
Gender as a Moderator of the Association between Social Responsiveness and Cognitive Ability for Children with Autism213/977Secondary AnalysisPrivate
Revising the Social Communication Questionnaire scoring procedures for Autism Spectrum Disorder and potential Social Communication DisorderIn analyzing data from the National Database for Autism Research, we examine revising the Social Communication Questionnaire (SCQ), a commonly used screening instrument for Autism Spectrum Disorder. A combination of Item Response Theory and Mokken scaling techniques were utilized to achieve this and abbreviated scoring of the SCQ is suggested. The psychometric sensitivity of this abbreviated SCQ was examined via bootstrapped Receiver Operator Characteristic (ROC) curve analyses. Additionally, we examined the sensitivity of the abbreviated and total scaled SCQ as it relates to a potential diagnosis of Social (Pragmatic) Communication Disorder (SCD). As SCD is a new disorder introduced with the fifth edition of the Diagnostic and Statistical Manual (DSM-5), we identified individuals with potential diagnosis of SCD among individuals with ASD via mixture modeling techniques using the same NDAR data. These analyses revealed two classes or clusters of individuals when considering the two core areas of impairment among individuals with ASD: social communication and restricted, repetitive patterns of behavior. 270/889Secondary AnalysisShared
Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findingsFemales with autism spectrum disorder (ASD) have been long overlooked in neuroscience research, but emerging evidence suggests they show distinct phenotypic trajectories and age-related brain differences. Sex-related biological factors (e.g., hormones, genes) may play a role in ASD etiology and have been shown to influence neurodevelopmental trajectories. Thus, a lifespan approach is warranted to understand brain-based sex differences in ASD. This systematic review on MRI-based sex differences in ASD was conducted to elucidate variations across the lifespan and inform biomarker discovery of ASD in females. We identified articles through two database searches. Fifty studies met criteria and underwent integrative review. We found that regions expressing replicable sex-by-diagnosis differences across studies overlapped with regions showing sex differences in neurotypical (NT) cohorts, in particular regions showing NT male>female volumes. Furthermore, studies investigating age-related brain differences across a broad age-span suggest distinct neurodevelopmental patterns in females with ASD. Qualitative comparison across youth and adult studies also supported this hypothesis. However, many studies collapsed across age, which may mask differences. Furthermore, accumulating evidence supports the female protective effect in ASD, although only one study examined brain circuits implicated in “protection.” When synthesized with the broader literature, brain-based sex differences in ASD may come from various sources, including genetic and endocrine processes involved in brain “masculinization” and “feminization” across early development, puberty, and other lifespan windows of hormonal transition. Furthermore, sex-related biology may interact with peripheral processes, in particular the stress axis and brain arousal system, to produce distinct neurodevelopmental patterns in males and females with ASD. Future research on neuroimaging-based sex differences in ASD would benefit from a lifespan approach in well-controlled and multivariate studies. Possible relationships between behavior, sex hormones, and brain development in ASD remain largely unexamined.40/759Secondary AnalysisShared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using LONI WorkflowsLONI utilized de-identified data from NDAR's cloud and a LONI Pipeline (pipeline.loni.usc.edu) processing workflow to perform a secondary structural MRI examination. The workflow used in this study pulls data from and provided by NDAR to an instance on the LONI compute cluster, aligns data to a standard orientation using FSLreorient2stsd, and undergoes further image processing to eventually identify, extract, and analyze cortical and sub-cortical structures in different MRI brain volumes. Two methods were used for this image processing: the first uses Freesurfer Recon_All to extract brain cortical parcellation and surfaces, align the data to an atlas, and identify, and analyze regions of interest; the second uses FSL to extract the brain (BET), align the data to an atlas, and extract ROIs including sub-cortical regions using FSL FIRST. The second method also uses Freesurfer (mri_segstats) to perform statistical analysis of these ROIs. Lastly, the LONI Pipeline workflow updates and returns the data processed and extracted by Freesurfer and FSL as a miNDAR back to NDAR's cloud storage instance. These results can be used to assess quality control or be used to perform post-hoc comparisons of cortical and sub-cortical brain architecture between subject types. See also, Torgerson et al. (2015) Brain Imaging and Behavior, for additional details on using LONI Pipeline to access and process NDAR data.2/740Secondary 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. 222/612Secondary AnalysisPrivate
Predictors of self-injurious behaviour exhibited by individuals with autism spectrum disorderPresence of an autism spectrum disorder is a risk factor for development of self-injurious behaviour (SIB) exhibited by individuals with developmental disorders. The most salient SIB risk factors historically studied within developmental disorders are level of intellectual disability, communication deficits and presence of specific genetic disorders. Recent SIB research has expanded the search for risk factors to include less commonly studied variables for people with developmental disorders: negative affect, hyperactivity and impulsivity.324/589Secondary AnalysisShared
Test ProductionTest Production13/569Secondary AnalysisPrivate
Variants in adjacent oxytocin/vasopressin gene region and associations with ASD diagnosis and autism related endophenotypes Background: There has been increasing interest in oxytocin (peptide: OT, gene: OXT) as a treatment pathway for neurodevelopmental disorders such as Autism Spectrum Disorder (ASD). Neurodevelopmental disorders affect functional, social, and intellectual abilities. With advances in molecular biology, research has connected multiple gene regions to the clinical presentation of ASD. Studies have also shown that the neuropeptide hormones OT and arginine vasopressin (AVP) influence mammalian social and territorial behaviors and may have treatment potential for neurodevelopmental disorders. Published data examining molecular and phenotypic variation in ASD, such as cognitive abilities, are limited. Since most studies have focused on the receptors in the OT-AVP system, we investigated genetic variation within peptide genes for association with phenotypic ASD features that help identify subgroups within the spectrum. Methods: In this study, TDT analysis was carried out utilizing FBAT in 207 probands (156 trios) and a European Ancestry (EA) subsample (108 trios). The evolutionarily related and adjacent genes of OXT and AVP were studied for associations between the tagged single nucleotide polymorphisms and ASD diagnosis, social abilities, restrictive and repetitive behaviors, and IQ for cognitive abilities. Additionally, relationships with whole blood serotonin (WB5HT) were explored because of the developmental relationships connecting plasma levels of OT and WB5HT within ASD. Results: Results indicate significant association between OXT rs6084258 (p=0.001) and ASD. Associations with several intermediate phenotypes were also noted: OXT rs6133010 was associated with IQ (full scale IQ, p=0.008; nonverbal IQ, p=0.009, verbal IQ, p=0.006); and OXT rs6084258 and OXT rs877172 were associated with WB5HT levels (EA, p=0.029 and p=0.050, respectively). Additionally, we measured plasma OT (pOT) levels in a subsample (N=54). Results show the same two polymorphisms, OXT rs877172 and OXT rs6084258, have significant association with pOT (EA, p=0.002 and p=0.011, respectively). Conclusions: These findings suggest that SNPs near OXT and AVP are associated with diagnosis of ASD, social behaviors, restricted and repetitive behaviors, IQ, pOT, and WB5HT. Future studies need to replicate these findings and examine gene-interactions in other neurodevelopmental disorders. Mechanisms of action may influence early social and cognitive development that may or may not be limited to ASD diagnosis. 528/565Primary AnalysisShared
ASD and genetic associations with receptors for oxytocin and vasopressin – AVPR1A, AVPR1B, and OXTRBackground: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as, ASD-related phenotypes. Researchers have also found the manipulation of these systems affect social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken. In this study, we examined associations between variants in the receptor genes of vasopressin (AVPR1A, AVPR1B), oxytocin (OXTR) and ASD diagnosis along with related subphenotypes. Methods: Probands were assessed using Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and clinical DSM-IV-TR criteria. Single nucleotide polymorphisms (SNPs) in AVPR1B and OXTR, and microsatellites in AVPR1A were genotyped in ~200 families with a proband with ASD. Family-based association testing (FBAT) was utilized to determine associations between variants and ASD. Haplotypes composed of OXTR SNPs (i.e. rs53576-rs2254298-rs2268493) were also analyzed due to previously published associations. Results: Using the additive inheritance model in FBAT we found associations between AVPR1B SNPs (rs28632197, p=0.005, rs35369693, p=0.025) and diagnosis. As in other studies, OXTR rs2268493 (p=0.050) was associated with diagnosis. rs2268493 was also associated with ASD subphenotypes of social withdrawal (p=0.013) and insistence on sameness (p=0.039). Further analyses demonstrated that the haplotype, rs2254298-rs2268493 was found to be significantly associated with diagnosis (A-T; p=0.026). FBAT was also used to analyze AVPR1A microsatellites (RS1 and RS3). Both length variants were found to be associated with restrictive, repetitive behaviors, but not overall diagnosis. Correction for multiple comparisons was performed for SNPs tested in each gene region, only AVPR1B SNPs remained significantly associated with ASD diagnosis. Conclusions: Autism is a heterogeneous disorder with many genes and pathways that contribute to its development. SNPs and microsatellites in the receptor genes of OT and AVP are associated with ASD diagnosis and measures of social behavior as well as restricted repetitive behaviors. We reported a novel association with ASD and AVPR1B SNPs. Understanding of genotype-phenotype relationships may be helpful in the development of pharmacological interventions for the OT/AVP system. 490/490Primary AnalysisShared
Face-processing performance is an independent predictor of social affect as measured by the Autism Diagnostic Observation Schedule across large-scale datasetsFace-processing deficits, while not required for the diagnosis of Autism Spectrum Disorder (ASD), have been associated with impaired social skills—a core feature of ASD; however, the strength and prevalence of this relationship remains unclear. Across 445 participants from the NIMH Data Archive, we examined the relationship between Benton Face Recognition Test (BFRT) performance and Autism Diagnostic Observation Schedule-Social Affect (ADOS-SA) scores. Lower BFRT scores (worse face-processing performance) were associated with higher ADOS-SA scores (higher ASD severity)–a relationship that held after controlling for other factors associated with face processing, i.e., age, sex, and IQ. These findings underscore the utility of face discrimination, not just recognition of facial emotion, as a key covariate for the severity of symptoms that characterize ASD.1/445Secondary AnalysisShared
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. 43/423Secondary AnalysisPrivate
Maternal whole blood serotonin levels are associated with cognitive ability and core symptoms in children with autism spectrum disorderBackground: Biomarker and neuroimaging findings implicate the serotonin (5-HT) system in autism spectrum disorder (ASD). Recent findings in mice indicate that the maternal 5-HT system influences embryonic neurodevelopment. Methods. Whole blood serotonin (WB5-HT) levels were obtained from 181 children diagnosed with Autism Spectrum Disorder, 93 of their fathers and 106 of their mothers. Standardized assessements were used to evaluate cognitive, behavioral, and language phenotypes. Results. After correcting for proband age, multiple regression demonstrated a significant relationship between maternal WB5-HT and nonverbal IQ (F(2,101) = 4.891, P = .009), overall adaptive function on the Vineland Adaptive Behavior Scales-II, (F(2,99) = 4.220, P = .018), and overall standardized language score on the Peabody Picture Vocabulary Test-4, (F(2,71) = 3.323, P = .042). Proband WB5-HT was not associated with phenotype on any outcome measure. Latent class analysis identified a three-class structure in the assessment data, describing children with low, intermediate, and high severity across measures of behavior, cognition, and adaptive function. Mean maternal WB5-HT differed across classes but proband WB5-HT did not, with the lowest maternal WB5-HT levels seen in the highest severity group, Welch's F(2, 32.457) = 16.948, p <.001. Conclusion. These findings suggest that the maternal serotonin system may affect neurodevelopment in humans, as it does in mice. Further studies in animal models may be able to reveal the mechanisms underlying these findings. Future human studies will require prospective, longitudinal assessment and neuroimaging to understand the impact of the maternal 5-HT system on human neurodevelopment generally and ASD risk specifically. 371/371Secondary AnalysisPrivate
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.Background: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers is an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown. Methods: In this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parents-proband trios with most (107) probands having 5-HT measurements. Results: Combined with published ASD DNVs, we identified USP15 as having recurrent de novo gene with loss of function mutations, and provided evidence supporting two other known genes with recurrent DNVs (FOXP1 and KDM5B). Genes harboring functional DNVs significantly overlap with functional/disease gene sets known to be involved in ASD etiology, including FMRP targets and synaptic formation and transcriptional regulation genes. We dichotomized the probands into High-5HT and Normal-5HT groups based on normalized serotonin levels and identified novel genes related to the TGF- pathway in the High-5HT group using Network-based Gene Enrichment Analysis (NGSEA). Through analysis of rare recessively acting variants (RAVs), we found that rare compound heterozygotes (CHs) in the High-5HT group were enriched for loci in an ASD-associated gene set. Finally, we carried out rare variant group-wise transmission disequilibrium tests and observed significant association of rare variants in genes encoding the serotonin pathway with ASD. Conclusions: Our study identified novel genes harboring DNVs implicated in ASD. Leveraging 5-HT as an endophenotype, we identified genes pointing to the TGF- pathway as potentially contributing to hyperserotonemia in ASD. Our study demonstrates the value of 5-HT as an effective endophenotype for gene discovery in ASD, evincing the need for greater collection of proband 5-HT data for future ASD genetics studies. 340/348Primary AnalysisShared
The Sensitivity and Specificity of the Social Communication Questionnaire for Autism Spectrum Disorder with Respect to AgeScientific Abstract The Social Communication Questionnaire (SCQ) assesses communication skills and social functioning in screening for symptoms of autism-spectrum disorder (ASD). The SCQ is recommended for individuals between 4 to 40 years with a cutoff score of 15 for referral. Mixed findings have been reported regarding the recommended cutoff score’s ability to accurately classify an individual as at-risk for ASD (sensitivity) versus an individual as not at-risk for ASD (specificity). Based on a sample from the National Database for Autism Research (n=344; age: 1.58 to 25.92 years old), the present study examined the SCQ’s sensitivity versus specificity across a range of ages. We recommend that the cutoff scores for the SCQ be re-evaluated with age as a consideration. Lay Abstract The age neutrality of the Social Communication Questionnaire (SCQ) was examined as a common screener for ASD. Mixed findings have been reported regarding the recommended cutoff score’s ability to accurately classify an individual as at-risk for ASD (sensitivity) versus accurately classifying an individual as not at-risk for ASD (specificity). With a sample from the National Database for Autism Research, the present study examined the SCQ’s sensitivity versus specificity. Analyses indicated that the actual sensitivity and specificity scores were lower than initially reported by the creators of the SCQ.3/339Secondary AnalysisShared
TST712 New Study Creation ProceduresASDFHJKKLL:L:LQQEE324/324Primary AnalysisPrivate
Test New Study Creation TestThis is the test to create new study by following the procedures in the TST-512 attached doc324/324Primary AnalysisPrivate
Identifying Sex-Specific Cognitive and Diagnostic Profiles for Children on the Autism Spectrum90/252Secondary AnalysisPrivate
Critical test items to differentiate individuals with SPCD from those with ASD and typical controlsSocial (pragmatic) communication disorder (SPCD) is a new category in the DSM-5. This study used IRT modelling to analyze archive data of item responses to the Social Communication Question-Lifetime (SCQ) from the National Database of Autism Research (NDAR), to select critical test items that could efficiently differentiate SPCD from ASD and TD. Methods: The SCQ records were downloaded from the NDAR. The item difficulty values and participants ability in the social communication and repetitive behavior and restricted interests were estimated through Winsteps. The items with difficulty values mostly matching the participants ability at the cut-off zones among three groups were selected. Result: The eight test items were identified for screening SPCD with 75% sensitivity. The specificity for differentiating SPCD from TD and ASD is 86.27% and 68.9% respectively. Conclusion: This study provides a short list of critical items that could be used to screen SPCD from TD and ASD. 16/151Secondary AnalysisPrivate
Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum DisorderElevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD.128/128Secondary AnalysisPrivate
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case studyNuclear receptor group 2 family 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. This study describes the clinical and neurocognitive features of an individual with a de novo nonsense variant in NR2F1 (NM_005654.5:c.82C>T, p.Gln28*), identified by whole exome sequencing. The patient was diagnosed with autism spectrum disorder (ASD) and unlike most previously reported cases, he had no developmental delay, superior verbal abilities (verbal IQ = 141), and high educational attainment despite reduced nonverbal abilities (nonverbal IQ = 63). He had optic nerve hypoplasia without visual impairment as well as mild dysmorphic features. Compared to both age-matched individuals with ASD and healthy controls, the patient showed reductions in manual motor speed, accuracy of saccadic eye movements, and rates of successful behavioral response inhibition. Although the majority of previously reported cases of BBSOAS have been associated with more global intellectual dysfunction, we report on a patient with selective disruption of nonverbal abilities and superior verbal abilities.12/12Primary AnalysisShared
* Data not on individual level
Edit