NIMH Data Archive - Data

Genomics

Neuroimaging

Phenotype¹

New Trial
Clinical Trial

¹ Numbers reported are subjects by age

New Project
Grant/Project Number

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

Collection - Use Existing Experiment

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

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

Select	Experiment Id	Experiment Name	Experiment Type	Created On

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

Collection - Add Experiment

Add Supporting Documentation

Funding Source:
URL:

To add an existing Data Structure, enter its title in the search bar. If you need to request changes, select the indicator "No, it requires changes to meet research needs" after selecting the Structure, and upload the file with the request changes specific to the selected Data Structure. Your file should follow the Request Changes Procedure. If the Data Structure does not exist, select "Request New Data Structure" and upload the appropriate zip file.

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

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

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

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Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations #2251

General
Experiments (0)
Shared Data
Publications (124)
Data Expected (32)
Associated Studies (12)

Collection Title	Collection Investigators	Collection Description
Collection Title:	Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations
Collection Investigators:	Mustafa Sahin
Collection Description:	Autism spectrum disorder and intellectual disability (ASD/ID) are severe neurodevelopmental conditions with early childhood onset. Advances in genetics have illustrated that ASD/ID represent a spectrum of rare disorders and that mutations in hundreds of genes may result in susceptibility to ASD/ID. This heterogeneity represents significant challenges but at the same time unique opportunities for research in the field of ASD/ID. Many of the genes implicated in ASD/ID appear to converge on a few common pathways, suggesting that there may be a common dysfunction at the cellular or systems level. Deeper understanding of the shared pathophysiology of these diseases may serve as gateways for understanding mechanisms of other causes of ASD/ID and for shared treatment possibilities. Here we focus of three well-established genetic syndromes that are associated with high penetrance for ASD/ID: TSC1/2, PTEN and SHANKS mutations. Specific aims for TSC are: 1) characterize the developmental phenotype of ASD and ID in a large cohort of pediatric patients with TSC; 2) identify biomarkers using advanced MR imaging; 3) establish infrastructure for the collection and storage of human bio-specimens, including genetic material, from TSC patients and their family members with ASD. Specific aims for PTEN are: 1) determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups; 2) identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD; 3) create and maintain a biorepository and linked phenotypic database for PTEN ASD. Specific aims for SHANKS are: 1) characterize PMS using standardized medical, behavioral, and cognitive measures and to track the natural history of the syndrome using repeated longitudinal assessments; 2) identify biomarkers using advanced MR imaging; S) identify genetic factors which contribute to diverse phenotypes in patients with PMS. As detailed in the Resources sections, this Consortium involves experienced physician-researchers from premier academic institutions with strong institutional support, impressive mentors for training of future physician-researchers, and long-standing connections to patient advocacy organizations with extensive recruitment networks.
Data Repository:	NIMH Data Archive
Permission Group:
Collection Creation Date:	01/06/2015
Collection Phase:	Funding Completed
Collection Sub-Phase:	Data Expected
Blinded Clinical Trial:	No
Total Funded Amount:	$6,290,601.00
Subjects Shared:	353

{"values":[]}

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Funding Sources:

Funding Source Name	Funding Source URL
NIH - Extramural	None

Supporting Documentation:

Grant Information:

Project Number	Project Title	Start Date	End Date	Planned Enrollment	Actual Enrollment	Organization	Funds Obligated
U54NS092090-01	Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations	09/30/2014	07/31/2020	350	383	BOSTON CHILDRENS HOSPITAL	$6,290,601.00

Clinical Trials:

helpcenter.collection.general-tab

Collection - General Tab

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

Collection Title
Investigators
Collection Description
Collection Phase
Funding Source
Clinical Trials

Collection Phase: The current status of a research project submitting data to an NDA Collection, based on the timing of the award and/or the data that have been submitted.

Pre-Enrollment: The default entry made when the NDA Collection is created.
Enrolling: Data have been submitted to the NDA Collection or the NDA Data Expected initial submission date has been reached for at least one data structure category in the NDA Collection.
Data Analysis: Subject level data collection for the research project is completed and has been submitted to the NDA Collection. The NDA Collection owner or the NDA Help Desk may set this phase when they’ve confirmed data submission is complete and submitted subject counts match at least 90% of the target enrollment numbers in the NDA Data Expected. Data submission reminders will be turned off for the NDA Collection.
Funding Completed: The NIH grant award (or awards) associated with the NDA Collection has reached its end date. NDA Collections in Funding Completed phase are assigned a subphase to indicate the status of data submission.
- The Data Expected Subphase indicates that NDA expects more data will be submitted
- The Closeout Subphase indicates the data submission is complete.
- The Sharing Not Met Subphase indicates that data submission was not completed as expected.

Blinded Clinical Trial Status:

This status is set by a Collection Owner and indicates the research project is a double blinded clinical trial. When selected, the public view of Data Expected will show the Data Expected items and the Submission Dates, but the targeted enrollment and subjects submitted counts will not be displayed.
Targeted enrollment and subjects submitted counts are visible only to NDA Administrators and to the NDA Collection or as the NDA Collection Owner.
When an NDA Collection that is flagged Blinded Clinical Trial reaches the maximum data sharing date for that Data Repository (see https://nda.nih.gov/nda/sharing-regimen.html), the embargo on Data Expected information is released.

Funding Source

The organization(s) responsible for providing the funding is listed here.

Supporting Documentation

Users with Submission privileges, as well as Collection Owners, Program Officers, and those with Administrator privileges, may upload and attach supporting documentation. By default, supporting documentation is shared to the general public, however, the option is also available to limit this information to qualified researchers only.

Grant Information

Identifiable details are displayed about the Project of which the Collection was derived from. You may click in the Project Number to view a full report of the Project captured by the NIH.

Clinical Trials

Any data that is collected to support or further the research of clinical studies will be available here. Collection Owners and those with Administrator privileges may add new clinical trials.

Frequently Asked Questions

How does the NIMH Data Archive (NDA) determine which Permission Group data are submitted into?

During Collection creation, NDA staff determine the appropriate Permission Group based on the type of data to be submitted, the type of access that will be available to data access users, and the information provided by the Program Officer during grant award.
How do I know when a NDA Collection has been created?

When a Collection is created by NDA staff, an email notification will automatically be sent to the PI(s) of the grant(s) associated with the Collection to notify them.
Is a single grant number ever associated with more than one Collection?

The NDA system does not allow for a single grant to be associated with more than one Collection; therefore, a single grant will not be listed in the Grant Information section of a Collection for more than one Collection.
Why is there sometimes more than one grant included in a Collection?

In general, each Collection is associated with only one grant; however, multiple grants may be associated if the grant has multiple competing segments for the same grant number or if multiple different grants are all working on the same project and it makes sense to hold the data in one Collection (e.g., Cooperative Agreements).

Glossary

Administrator Privilege

A privilege provided to a user associated with an NDA Collection or NDA Study whereby that user can perform a full range of actions including providing privileges to other users.
Collection Owner

Generally, the Collection Owner is the contact PI listed on a grant. Only one NDA user is listed as the Collection owner. Most automated emails are primarily sent to the Collection Owner.
Collection Phase
The Collection Phase provides information on data submission as opposed to grant/project completion so while the Collection phase and grant/project phase may be closely related they are often different. Collection users with Administrative Privileges are encouraged to edit the Collection Phase. The Program Officer as listed in eRA (for NIH funded grants) may also edit this field. Changes must be saved by clicking the Save button at the bottom of the page. This field is sortable alphabetically in ascending or descending order. Collection Phase options include:
- Pre-Enrollment: A grant/project has started, but has not yet enrolled subjects.
- Enrolling: A grant/project has begun enrolling subjects. Data submission is likely ongoing at this point.
- Data Analysis: A grant/project has completed enrolling subjects and has completed all data submissions.
- Funding Completed: A grant/project has reached the project end date.
Collection Title

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

Provides the grant number(s) for the grant(s) associated with the Collection. The field is a hyperlink so clicking on the Grant number will direct the user to the grant information in the NIH Research Portfolio Online Reporting Tools (RePORT) page.
Supporting Documentation

Various documents and materials to enable efficient use of the data by investigators unfamiliar with the project and may include the research protocol, questionnaires, and study manuals.
NIH Research Initiative

NDA Collections may be organized by scientific similarity into NIH Research Initiatives, to facilitate query tool user experience. NIH Research Initiatives map to one or multiple Funding Opportunity Announcements.
Permission Group

Access to shared record-level data in NDA is provisioned at the level of a Permission Group. NDA Permission Groups consist of one or multiple NDA Collections that contain data with the same subject consents.
Planned Enrollment

Number of human subject participants to be enrolled in an NIH-funded clinical research study. The data is provided in competing applications and annual progress reports.
Actual Enrollment

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

A virtual container and organization structure for data and associated documentation from one grant or one large project/consortium. It contains tools for tracking data submission and allows investigators to define a wide array of other elements that provide context for the data, including all general information regarding the data and source project, experimental parameters used to collect any event-based data contained in the Collection, methods, and other supporting documentation. They also allow investigators to link underlying data to an NDA Study, defining populations and subpopulations specific to research aims.
Data Use Limitations

Data Use Limitations (DULs) describe the appropriate secondary use of a dataset and are based on the original informed consent of a research participant. NDA only accepts consent-based data use limitations defined by the NIH Office of Science Policy.
Total Subjects Shared

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

Contact NDA Help Desk

ID	Name	Created Date	Status	Type
No records found.

helpcenter.collection.experiments-tab

Collection - Experiments

The number of Experiments included is displayed in parentheses next to the tab name. You may download all experiments associated with the Collection via the Download button. You may view individual experiments by clicking the Experiment Name and add them to the Filter Cart via the Add to Cart button.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may create or edit an Experiment.

Please note: The creation of an NDA Experiment does not necessarily mean that data collected, according to the defined Experiment, has been submitted or shared.

Frequently Asked Questions

Can an Experiment be associated with more than one Collection?
Yes -see the “Copy” button in the bottom left when viewing an experiment. There are two actions that can be performed via this button:
1. Copy the experiment with intent for modifications.
2. Associate the experiment to the collection. No modifications can be made to the experiment.

Glossary

Experiment Status

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

The ID number automatically generated by NDA which must be included in the appropriate file when uploading data to link the Experiment Definition to the subject record.

Contact NDA Help Desk

Shared Data:

Title	Type	Number of Subjects
ADI-R Regression Supplemental Questionnaire	Clinical Assessments	86
Aberrant Behavior Checklist (ABC) - Community	Clinical Assessments	288
Autism Clinical Certainty Score	Clinical Assessments	291
Autism Diagnostic Interview, Revised (ADI-R)	Clinical Assessments	268
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1	Clinical Assessments	133
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2	Clinical Assessments	63
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3	Clinical Assessments	104
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4	Clinical Assessments	33
BRIEF-Preschool	Clinical Assessments	49
BRIEF-Self	Clinical Assessments	220
Beery VMI	Clinical Assessments	214
Child Behavior Checklist (CBCL) 1-5	Clinical Assessments	128
Child Behavior Checklist (CBCL) 6-18	Clinical Assessments	254
Childrens Hospital Medical History	Clinical Assessments	275
Classification of Seizures	Clinical Assessments	289
Conners Continuous Performance Test	Clinical Assessments	113
DAS-II: Differential Ability Scales 2nd Ed. School Age	Clinical Assessments	6
DAS-II:Differential Ability Scales 2nd Ed. Early Years	Clinical Assessments	12
Developmental Coordination Disorder Questionnaire (DCDQ)	Clinical Assessments	318
Diet Log	Clinical Assessments	289
Early Infancy History	Clinical Assessments	272
Expressive Vocabulary Test	Clinical Assessments	239
Family History	Clinical Assessments	270
Family Studies Demographics	Clinical Assessments	342
Image	Imaging	76
Medical History	Clinical Assessments	329
Mullen Scales of Early Learning	Clinical Assessments	146
Peabody Picture Vocabulary Test, Fourth Edition-Form A	Clinical Assessments	260
Physical and Neurological Exam	Clinical Assessments	323
Prenatal and Early Postnatal History	Clinical Assessments	272
Repetitive Behavior Scale - Revised (RBS-R)	Clinical Assessments	320
Research Subject	Clinical Assessments	286
School Attendance	Clinical Assessments	289
Sensory Profile Short	Clinical Assessments	318
Social Responsiveness Scale (SRS) - Preschool Version	Clinical Assessments	314
Speech and Language Assessment	Clinical Assessments	289
Stanford-Binet Intelligence Scales, Fifth Edition (SB5)	Clinical Assessments	257
Treatment Intervention	Clinical Assessments	289
Vineland-II - Survey Form (2005)	Clinical Assessments	312
Wechsler Adult Intelligence Scale Fourth Edition [part 1]	Clinical Assessments	4
Wechsler Intelligence Scale for Children - IV [part 2]	Clinical Assessments	34
Wechsler Preschool and Primary Scale of Intelligence IV Edition	Clinical Assessments	10
Youth Self Report	Clinical Assessments	13

helpcenter.collection.shared-data-tab

Collection - Shared Data

This tab provides a quick overview of the Data Structure title, Data Type, and Number of Subjects that are currently Shared for the Collection. The information presented in this tab is automatically generated by NDA and cannot be edited. If no information is visible on this tab, this would indicate the Collection does not have shared data or the data is private.

The shared data is available to other researchers who have permission to access data in the Collection's designated Permission Group(s). Use the Download button to get all shared data from the Collection to the Filter Cart.

Frequently Asked Questions

How will I know if another researcher uses data that I shared through the NIMH Data Archive (NDA)?

To see what data your project have submitted are being used by a study, simply go the Associated Studies tab of your collection. Alternatively, you may review an NDA Study Attribution Report available on the General tab.
Can I get a supplement to share data from a completed research project?

Often it becomes more difficult to organize and format data electronically after the project has been completed and the information needed to create a GUID may not be available; however, you may still contact a program staff member at the appropriate funding institution for more information.
Can I get a supplement to share data from a research project that is still ongoing?

Unlike completed projects where researchers may not have the information needed to create a GUID and/or where the effort needed to organize and format data becomes prohibitive, ongoing projects have more of an opportunity to overcome these challenges. Please contact a program staff member at the appropriate funding institution for more information.

Glossary

Data Structure

A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
Data Type

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

The term 'Shared' generally means available to others; however, there are some slightly different meanings based on what is Shared. A Shared NDA Study is viewable and searchable publicly regardless of the user's role or whether the user has an NDA account. A Shared NDA Study does not necessarily mean that data used in the NDA Study have been shared as this is independently determined. Data are shared according the schedule defined in a Collection's Data Expected Tab and/or in accordance with data sharing expectations in the NDA Data Sharing Terms and Conditions. Additionally, Supporting Documentation uploaded to a Collection may be shared independent of whether data are shared.

Contact NDA Help Desk

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

Publications

Publications relevant to NDA data are listed below. Most displayed publications have been associated with the grant within Pubmed. Use the "+ New Publication" button to add new publications. Publications relevant/not relevant to data expected are categorized. Relevant publications are then linked to the underlying data by selecting the Create Study link. Study provides the ability to define cohorts, assign subjects, define outcome measures and lists the study type, data analysis and results. Analyzed data and results are expected in this way.

PubMed ID	Study	Title	Journal	Authors	Date	Status
39319594	Create Study	Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.	Annals of neurology	Srivastava, Siddharth; Cole, Jordan J; Cohen, Julie S; Chopra, Maya; Smith, Hadley Stevens; Deardorff, Matthew A; Pedapati, Ernest; Corner, Brian; Anixt, Julia S; Jeste, Shafali; Sahin, Mustafa; Gurnett, Christina A; Campbell, Colleen A; Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing	November 1, 2024	Not Determined
39142021	Create Study	Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.	Pediatric neurology	Farach, Laura S; Richard, Melissa A; Wulsin, Aynara C; Bebin, Elizabeth M; Krueger, Darcy A; Sahin, Mustafa; Porter, Brenda E; McPherson, Tarrant O; Peters, Jurriaan M; O'Kelley, Sarah; Taub, Katherine S; Rajaraman, Rajsekar; Randle, Stephanie C; McClintock, William M; Koenig, Mary Kay; Frost, Michael D; Werner, Klaus; Nolan, Danielle A; Wong, Michael; Cutter, Gary; Northrup, Hope; Au, Kit Sing; PREVeNT Study Group	October 1, 2024	Not Determined
38783199	Create Study	Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit.	Journal of neurodevelopmental disorders	Brown, Jacquelyn A; Faley, Shannon L; Judge, Monika; Ward, Patricia; Ihrie, Rebecca A; Carson, Robert; Armstrong, Laura; Sahin, Mustafa; Wikswo, John P; Ess, Kevin C; Neely, M Diana	May 23, 2024	Not Determined
38730350	Create Study	Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.	Journal of neurodevelopmental disorders	Levy, Tess; Gluckman, Jacob; Siper, Paige M; Halpern, Danielle; Zweifach, Jessica; Filip-Dhima, Rajna; Holder Jr, J Lloyd; Trelles, M Pilar; Johnson, Kristina; Bernstein, Jonathan A; Berry-Kravis, Elizabeth; Powell, Craig M; Soorya, Latha Valluripalli; Thurm, Audrey; Buxbaum, Joseph D; Sahin, Mustafa; Kolevzon, Alexander; Srivastava, Siddharth; Developmental Synaptopathies Consortium	May 10, 2024	Not Determined
38501559	Create Study	Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.	Annals of clinical and translational neurology	Dhawan, Andrew; Baitamouni, Sarah; Liu, Darren; Busch, Robyn; Klaas, Patricia; Frazier, Thomas W; Srivastava, Siddharth; Parikh, Sumit; Hsich, Gary E; Friedman, Neil R; Ritter, David M; Hardan, Antonio Y; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis	May 1, 2024	Not Determined
38366765	Create Study	Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.	American journal of medical genetics. Part A	Richard, Melissa A; Lupo, Philip J; Ehli, Erik A; Sahin, Mustafa; Krueger, Darcy A; Wu, Joyce Y; Bebin, Elizabeth M; Au, Kit Sing; Northrup, Hope; Farach, Laura S; TACERN Study Group	June 1, 2024	Not Determined
38354030	Create Study	Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey.	JMIR public health and surveillance	Macaluso, Maurizio; Rothenberg, Marc E; Ferkol, Thomas; Kuhnell, Pierce; Kaminski, Henry J; Kimberlin, David W; Benatar, Michael; Chehade, Mirna; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4	February 14, 2024	Not Determined
38168450	Create Study	Rescue of Impaired Blood-Brain Barrier in Tuberous Sclerosis Complex Patient Derived Neurovascular Unit.	bioRxiv : the preprint server for biology	Brown, Jacquelyn A; Faley, Shannon L; Judge, Monika; Ward, Patricia; Ihrie, Rebecca A; Carson, Robert; Armstrong, Laura; Sahin, Mustafa; Wikswo, John P; Ess, Kevin C; Neely, M Diana	December 16, 2023	Not Determined
38168271	Create Study	Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.	Research square	Eng, Charis; Kim, Adriel; Yehia, Lamis	December 14, 2023	Not Determined
38110041	Create Study	ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.	Neurobiology of disease	Afshar-Saber, Wardiya; Teaney, Nicole A; Winden, Kellen D; Jumo, Hellen; Shi, Xutong; McGinty, Gabrielle; Hubbs, Jed; Chen, Cidi; Tokatly Latzer, Itay; Gasparoli, Federico; Ebrahimi-Fakhari, Darius; Buttermore, Elizabeth D; Roullet, Jean-Baptiste; Pearl, Phillip L; Sahin, Mustafa	January 1, 2024	Not Determined
37598571	Create Study	Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).	Pediatric neurology	Heunis, Tosca-Marie; Chambers, Nola; Vanclooster, Stephanie; Bissell, Stacey; Byars, Anna W; Capal, Jamie K; Cukier, Sebastián; Davis, Peter E; de Vries, Magdalena C; De Waele, Liesbeth; Flinn, Jennifer; Gardner-Lubbe, Sugnet; Gipson, Tanjala; Kingswood, J Christopher; Krueger, Darcy A; Kumm, Aubrey J; Sahin, Mustafa; Schoeters, Eva; Smith, Catherine; Srivastava, Shoba; Takei, Megumi; van Eeghen, Agnies M; Waltereit, Robert; Jansen, Anna C; de Vries, Petrus J	October 1, 2023	Not Determined
37392087	Create Study	Updated consensus guidelines on the management of Phelan-McDermid syndrome.	American journal of medical genetics. Part A	Srivastava, Siddharth; Sahin, Mustafa; Buxbaum, Joseph D; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey; Bernstein, Jonathan A; Asante-Otoo, Afua; Bennett Jr, William E; Betancur, Catalina; Brickhouse, Tegwyn H; Passos Bueno, Maria Rita; Chopra, Maya; Christensen, Celanie K; Cully, Jennifer L; Dies, Kira; Friedman, Kate; Gummere, Brittany; Holder Jr, J Lloyd; Jimenez-Gomez, Andres; Kerins, Carolyn A; Khan, Omar; Kohlenberg, Teresa; Lacro, Ronald V; Levi, Lori A; Levy, Tess; Linnehan, Diane; Eva, Loth; Moshiree, Baharak; Neumeyer, Ann; Paul, Scott M; Phelan, Katy; Persico, Antonio; Rapaport, Robert; Rogers, Curtis; Saland, Jeffrey; Sethuram, Swathi; Shapiro, Janine; Tarr, Phillip I; White, Kerry M; Wickstrom, Jordan; Williams, Kent M; Winrow, Dana; Wishart, Brian; Kolevzon, Alexander	August 1, 2023	Not Determined
37197559	Create Study	Emerging roles and opportunities for rare disease patient advocacy groups.	Therapeutic advances in rare disease	Patterson, Amy M; O'Boyle, Megan; VanNoy, Grace E; Dies, Kira A	January 1, 2023	Not Determined
37119787	Create Study	Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.	Pediatric neurology	Levine, Alexis; Davis, Peter; Zhang, Bo; Peters, Jurriaan; Filip-Dhima, Rajna; Warfield, Simon K; Prohl, Anna; Capal, Jamie; Krueger, Darcy; Bebin, E Martina; Northrup, Hope; Wu, Joyce Y; Sahin, Mustafa; TACERN Study Group	July 1, 2023	Not Determined
37093598	Create Study	Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants.	JAMA network open	Yehia, Lamis; Plitt, Gilman; Tushar, Ann M; Joo, Julia; Burke, Carol A; Campbell, Steven C; Heiden, Katherine; Jin, Judy; Macaron, Carole; Michener, Chad M; Pederson, Holly J; Radhakrishnan, Kadakkal; Shin, Joyce; Tamburro, Joan; Patil, Sujata; Eng, Charis	April 3, 2023	Not Determined
36917158	Create Study	Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study.	Journal of medical Internet research	Applequist, Janelle; Burroughs, Cristina; Merkel, Peter A; Rothenberg, Marc; Trapnell, Bruce; Desnick, Robert; Sahin, Mustafa; Krischer, Jeffrey	March 14, 2023	Not Determined
36717037	Create Study	Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes.	Gastroenterology	Yehia, Lamis; Heald, Brandie; Eng, Charis	April 1, 2023	Not Determined
36641436	Create Study	Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.	Journal of neurodevelopmental disorders	Busch, Robyn M; Frazier Ii, Thomas W; Sonneborn, Claire; Hogue, Olivia; Klaas, Patricia; Srivastava, Siddharth; Hardan, Antonio Y; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis	January 14, 2023	Not Determined
36394118	Create Study	Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.	Annals of neurology	Cohen, Alexander L; Kroeck, Mallory R; Wall, Juliana; McManus, Peter; Ovchinnikova, Arina; Sahin, Mustafa; Krueger, Darcy A; Bebin, E Martina; Northrup, Hope; Wu, Joyce Y; Warfield, Simon K; Peters, Jurriaan M; Fox, Michael D; Tuberous Sclerosis Complex Autism Center of Excellence Network Study Group	March 1, 2023	Not Determined
36336205	Create Study	In Context: A Developmental Model of Reward Processing, With Implications for Autism and Sensitive Periods.	Journal of the American Academy of Child and Adolescent Psychiatry	Clements, Caitlin C; Ascunce, Karina; Nelson, Charles A	November 1, 2023	Not Determined
36276299	Create Study	Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.	HGG advances	Breen, Michael S; Fan, Xuanjia; Levy, Tess; Pollak, Rebecca M; Collins, Brett; Osman, Aya; Tocheva, Anna S; Sahin, Mustafa; Berry-Kravis, Elizabeth; Soorya, Latha; Thurm, Audrey; Powell, Craig M; Bernstein, Jonathan A; Kolevzon, Alexander; Buxbaum, Joseph D; Developmental Synaptopathies Consortium	January 12, 2023	Not Determined
36156879	Create Study	GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.	Molecular therapy. Methods & clinical development	Chopra, Maya; Modi, Meera E; Dies, Kira A; Chamberlin, Nancy L; Buttermore, Elizabeth D; Brewster, Stephanie Jo; Prock, Lisa; Sahin, Mustafa	December 8, 2022	Not Determined
35594551	Create Study	A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.	Human molecular genetics	Srivastava, Siddharth; Jo, Booil; Zhang, Bo; Frazier, Thomas; Gallagher, Anne Snow; Peck, Fleming; Levin, April R; Mondal, Sangeeta; Li, Zetan; Filip-Dhima, Rajna; Geisel, Gregory; Dies, Kira A; Diplock, Amelia; Eng, Charis; Hanna, Rabi; Sahin, Mustafa; Hardan, Antonio; Developmental Synaptopathies Consortium	October 10, 2022	Not Determined
35467831	Create Study	Subcutaneous Administration of a Nitric Oxide-Releasing Nanomatrix Gel Ameliorates Obesity and Insulin Resistance in High-Fat Diet-Induced Obese Mice.	ACS applied materials & interfaces	Ren, Guang; Hwang, Patrick Tae Joon; Millican, Reid; Shin, Juhee; Brott, Brigitta C; van Groen, Thomas; Powell, Craig M; Bhatnagar, Sushant; Young, Martin E; Jun, Ho-Wook; Kim, Jeong-A	May 4, 2022	Not Determined
35241692	Create Study	Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.	NPJ genomic medicine	Yehia, Lamis; Ni, Ying; Sadler, Tammy; Frazier, Thomas W; Eng, Charis	March 3, 2022	Not Determined
35143913	Create Study	Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study.	Journal of the American Academy of Dermatology	Morgan, Frederick C; Yehia, Lamis; McDonald, Christine; Martinez-Agosto, Julian A; Hardan, Antonio Y; Tamburro, Joan; Sahin, Mustafa; Bayart, Cheryl; Eng, Charis; Developmental Synaptopathies Consortium	July 1, 2023	Not Determined
34863106	Create Study	Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.	Journal of neurodevelopmental disorders	Guillory, Sylvia B; Baskett, Victoria Z; Grosman, Hannah E; McLaughlin, Christopher S; Isenstein, Emily L; Wilkinson, Emma; Weissman, Jordana; Britvan, Bari; Trelles, M Pilar; Halpern, Danielle B; Buxbaum, Joseph D; Siper, Paige M; Wang, A Ting; Kolevzon, Alexander; Foss-Feig, Jennifer H	December 4, 2021	Not Determined
34740315	Create Study	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.	Journal of neurodevelopmental disorders	Srivastava, Siddharth; Condy, Emma; Carmody, Erin; Filip-Dhima, Rajna; Kapur, Kush; Bernstein, Jonathan A; Berry-Kravis, Elizabeth; Powell, Craig M; Soorya, Latha; Thurm, Audrey; Buxbaum, Joseph D; Sahin, Mustafa; Kolevzon, A Lexander; Developmental Synaptopathies Consortium	November 5, 2021	Not Determined
34689816	Create Study	Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND).	Orphanet journal of rare diseases	de Vries, Petrus J; Leclezio, Loren; Gardner-Lubbe, Sugnet; Krueger, Darcy; Sahin, Mustafa; Sparagana, Steven; De Waele, Liesbeth; Jansen, Anna	October 24, 2021	Not Determined
34668231	Create Study	Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study.	Annals of neurology	Capal, Jamie K; Williams, Marian E; Pearson, Deborah A; Kissinger, Robin; Horn, Paul S; Murray, Donna; Currans, Kristn; Kent, Bridget; Bebin, Martina; Northrup, Hope; Wu, Joyce Y; Sahin, Mustafa; Krueger, Darcy A; TACERN Study Group	December 1, 2021	Not Determined
34559195	Create Study	Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.	Human molecular genetics	Levy, Tess; Foss-Feig, Jennifer H; Betancur, Catalina; Siper, Paige M; Trelles-Thorne, Maria Del Pilar; Halpern, Danielle; Frank, Yitzchak; Lozano, Reymundo; Layton, Christina; Britvan, Bari; Bernstein, Jonathan A; Buxbaum, Joseph D; Berry-Kravis, Elizabeth; Powell, Craig M; Srivastava, Siddharth; Sahin, Mustafa; Soorya, Latha; Thurm, Audrey; Kolevzon, Alexander; Developmental Synaptopathies Consortium	February 21, 2022	Not Determined
34489750	Create Study	Psychiatric Characteristics Across Individuals With PTEN Mutations.	Frontiers in psychiatry	Steele, Morgan; Uljarević, Mirko; Rached, Gaëlle; Frazier, Thomas W; Phillips, Jennifer M; Libove, Robin A; Busch, Robyn M; Klaas, Patricia; Martinez-Agosto, Julian A; Srivastava, Siddharth; Eng, Charis; Sahin, Mustafa; Hardan, Antonio Y	January 1, 2021	Not Determined
34423884	Create Study	Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.	American journal of medical genetics. Part A	Uljarević, Mirko; Frazier, Thomas W; Rached, Gaëlle; Busch, Robyn M; Klaas, Patricia; Srivastava, Siddharth; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Hardan, Antonio Y; Developmental Synaptopathies Consortium	November 1, 2021	Not Determined
34343869	Create Study	Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex.	Pediatric neurology	Ihnen, S Katie Z; Capal, Jamie K; Horn, Paul S; Griffith, Molly; Sahin, Mustafa; Bebin, E Martina; Wu, Joyce Y; Northrup, Hope; Krueger, Darcy A; TACERN study group	October 1, 2021	Not Determined
34342000	Create Study	Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.	Annals of the New York Academy of Sciences	Cable, Jennifer; Purcell, Ryan H; Robinson, Elise; Vorstman, Jacob A S; Chung, Wendy K; Constantino, John N; Sanders, Stephan J; Sahin, Mustafa; Dolmetsch, Ricardo E; Shah, Bina Maniar; Thurm, Audrey; Martin, Christa L; Bearden, Carrie E; Mulle, Jennifer G	December 1, 2021	Not Determined
34303785	Create Study	Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome.	Journal of the American Academy of Child and Adolescent Psychiatry	Siper, Paige M; Rowe, Mikaela A; Guillory, Sylvia B; Rouhandeh, Audrey A; George-Jones, Julia L; Tavassoli, Teresa; Lurie, Stacey; Zweifach, Jessica; Weissman, Jordana; Foss-Feig, Jennifer; Halpern, Danielle; Trelles, M Pilar; Mulhern, Maureen S; Brittenham, Chloe; Gordon, James; Zemon, Vance; Buxbaum, Joseph D; Kolevzon, Alexander	April 1, 2022	Not Determined
34250407	Create Study	Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome.	JCO precision oncology	Jia, Margaret; Sangwan, Naseer; Tzeng, Alice; Eng, Charis	January 1, 2021	Not Determined
33910615	Create Study	Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.	Molecular autism	Mariscal, Michael G; Berry-Kravis, Elizabeth; Buxbaum, Joseph D; Ethridge, Lauren E; Filip-Dhima, Rajna; Foss-Feig, Jennifer H; Kolevzon, Alexander; Modi, Meera E; Mosconi, Matthew W; Nelson, Charles A; Powell, Craig M; Siper, Paige M; Soorya, Latha; Thaliath, Andrew; Thurm, Audrey; Zhang, Bo; Sahin, Mustafa; Levin, April R; Developmental Synaptopathies Consortium	April 28, 2021	Not Determined
33861989	Create Study	Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders.	Stem cell reports	Anderson, Nickesha C; Chen, Pin-Fang; Meganathan, Kesavan; Afshar Saber, Wardiya; Petersen, Andrew J; Bhattacharyya, Anita; Kroll, Kristen L; Sahin, Mustafa; Cross-IDDRC Human Stem Cell Working Group	June 8, 2021	Not Determined
33644493	Create Study	A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations.	Contemporary clinical trials communications	Hardan, Antonio Y; Jo, Booil; Frazier, Thomas W; Klaas, Patricia; Busch, Robyn M; Dies, Kira A; Filip-Dhima, Rajna; Snow, Anne V; Eng, Charis; Hanna, Rabi; Zhang, Bo; Sahin, Mustafa	March 1, 2021	Not Determined
33595755	Create Study	Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.	Journal of autism and developmental disorders	Uljarević, Mirko; Frazier, Thomas W; Rached, Gaëlle; Busch, Robyn M; Klaas, Patricia; Srivastava, Siddharth; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Hardan, Antonio Y; Developmental Synaptopathies Consortium	January 1, 2022	Not Determined
33509259	Create Study	Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.	Molecular autism	Frazier, Thomas W; Jaini, Ritika; Busch, Robyn M; Wolf, Matthew; Sadler, Tammy; Klaas, Patricia; Hardan, Antonio Y; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Developmental Synaptopathies Consortium	January 28, 2021	Not Determined
33410532	Create Study	Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.	Annals of neurology	Cohen, Alexander L; Mulder, Brechtje P F; Prohl, Anna K; Soussand, Louis; Davis, Peter; Kroeck, Mallory R; McManus, Peter; Gholipour, Ali; Scherrer, Benoit; Bebin, E Martina; Wu, Joyce Y; Northrup, Hope; Krueger, Darcy A; Sahin, Mustafa; Warfield, Simon K; Fox, Michael D; Peters, Jurriaan M; Tuberous Sclerosis Complex Autism Center of Excellence Network Study Group	April 1, 2021	Not Determined
33262695	Create Study	Editorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders.	Frontiers in integrative neuroscience	Sahin, Mustafa; Sweeney, John A; Jones, Stephanie R	January 1, 2020	Not Determined
33011641	Create Study	Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.	Pediatric neurology	Farach, Laura S; Richard, Melissa A; Lupo, Philip J; Sahin, Mustafa; Krueger, Darcy A; Wu, Joyce Y; Bebin, Elizabeth M; Au, Kit Sing; Northrup, Hope; TACERN Study Group	December 1, 2020	Not Determined
32959437	Create Study	Polymicrogyria is Associated With Pathogenic Variants in PTEN.	Annals of neurology	Shao, Diane D; Achkar, Christelle M; Lai, Abbe; Srivastava, Siddharth; Doan, Ryan N; Rodan, Lance H; Chen, Allen Y; Brain Development Study Group; Poduri, Annapurna; Yang, Edward; Walsh, Christopher A	December 1, 2020	Not Determined
32927206	Create Study	Scalp EEG interictal high frequency oscillations as an objective biomarker of infantile spasms.	Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology	Nariai, Hiroki; Hussain, Shaun A; Bernardo, Danilo; Motoi, Hirotaka; Sonoda, Masaki; Kuroda, Naoto; Asano, Eishi; Nguyen, Jimmy C; Elashoff, David; Sankar, Raman; Bragin, Anatol; Staba, Richard J; Wu, Joyce Y	November 1, 2020	Not Determined
32879655	Create Study	LEARNING TO DETECT BRAIN LESIONS FROM NOISY ANNOTATIONS.	Proceedings. IEEE International Symposium on Biomedical Imaging	Karimi, Davood; Peters, Jurriaan M; Ouaalam, Abdelhakim; Prabhu, Sanjay P; Sahin, Mustafa; Krueger, Darcy A; Kolevzon, Alexander; Eng, Charis; Warfield, Simon K; Gholipour, Ali	April 1, 2020	Not Determined
32568377	Create Study	PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?	Human molecular genetics	Yehia, Lamis; Eng, Charis	October 20, 2020	Not Determined
32406614	Create Study	Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.	Autism research : official journal of the International Society for Autism Research	Gergoudis, Kellie; Weinberg, Alan; Templin, Jonathan; Farmer, Cristan; Durkin, Alison; Weissman, Jordana; Siper, Paige; Foss-Feig, Jennifer; Del Pilar Trelles, Maria; Bernstein, Jonathan A; Buxbaum, Joseph D; Berry-Kravis, Elizabeth; Powell, Craig M; Sahin, Mustafa; Soorya, Latha; Thurm, Audrey; Kolevzon, Alexander; Developmental Synaptopathies Consortium	August 2020	Not Determined
32169041	Create Study	A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment.	BMC medical research methodology	Applequist, Janelle; Burroughs, Cristina; Ramirez Jr, Artemio; Merkel, Peter A; Rothenberg, Marc E; Trapnell, Bruce; Desnick, Robert J; Sahin, Mustafa; Krischer, Jeffrey P	March 2020	Not Determined
32107139	Create Study	Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.	Pediatric neurology	Bassell, Julia; Srivastava, Siddharth; Prohl, Anna K; Scherrer, Benoit; Kapur, Kush; Filip-Dhima, Rajna; Berry-Kravis, Elizabeth; Soorya, Latha; Thurm, Audrey; Powell, Craig M; Bernstein, Jonathan A; Buxbaum, Joseph D; Kolevzon, Alexander; Warfield, Simon K; Sahin, Mustafa; Developmental Synaptopathies Consortium	May 2020	Not Determined
32075691	Create Study	Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex.	Molecular autism	Afshar Saber, Wardiya; Sahin, Mustafa	February 19, 2020	Not Determined
32050889	Create Study	Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.	Journal of neurodevelopmental disorders	Kohlenberg, Teresa M; Trelles, M Pilar; McLarney, Brittany; Betancur, Catalina; Thurm, Audrey; Kolevzon, Alexander	February 2020	Not Determined
32003824	Create Study	Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.	JAMA network open	Yehia L, Seyfi M, Niestroj LM, Padmanabhan R, Ni Y, Frazier TW, Lal D, Eng C	January 2020	Not Determined
31879555	Create Study	Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.	Molecular autism	Kolevzon, Alexander; Delaby, Elsa; Berry-Kravis, Elizabeth; Buxbaum, Joseph D; Betancur, Catalina	January 2019	Not Determined
31864941	Create Study	Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex.	Epilepsy & behavior : E&B	Schoenberger, Alexandra; Capal, Jamie K; Ondracek, Annie; Horn, Paul S; Murray, Donna; Byars, Anna Weber; Pearson, Deborah A; Williams, Marian E; Bebin, Martina; Northrup, Hope; Wu, Joyce Y; Sahin, Mustafa; Krueger, Darcy A	February 2020	Not Determined
31812987	Create Study	The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex.	Cerebral cortex (New York, N.Y. : 1991)	Scherrer, Benoit; Prohl, Anna K; Taquet, Maxime; Kapur, Kush; Peters, Jurriaan M; Tomas-Fernandez, Xavier; Davis, Peter E; M Bebin, Elizabeth; Krueger, Darcy A; Northrup, Hope; Y Wu, Joyce; Sahin, Mustafa; Warfield, Simon K	April 14, 2020	Not Determined
31594918	Create Study	Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN.	Translational psychiatry	Busch, Robyn M; Srivastava, Siddharth; Hogue, Olivia; Frazier, Thomas W; Klaas, Patricia; Hardan, Antonio; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis; Developmental Synaptopathies Consortium	October 2019	Relevant
31569042	Create Study	Prospective observational study: Fast ripple localization delineates the epileptogenic zone.	Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology	Nariai H, Hussain SA, Bernardo D, Fallah A, Murata KK, Nguyen JC, Rajaraman RR, Rao LM, Matsumoto JH, Lerner JT, Salamon N, Elashoff D, Sankar R, Wu JY	November 2019	Not Determined
31564436	Create Study	Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.	American journal of human genetics	Yehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C	October 2019	Not Determined
31353853	Create Study	White matter mean diffusivity correlates with myelination in tuberous sclerosis complex.	Annals of clinical and translational neurology	Peters JM, Struyven RR, Prohl AK, Vasung L, Stajduhar A, Taquet M, Bushman JJ, Lidov H, Singh JM, Scherrer B, Madsen JR, Prabhu SP, Sahin M, Afacan O, Warfield SK	July 2019	Not Determined
31304656	Create Study	Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex.	Journal of neuroimaging : official journal of the American Society of Neuroimaging	Ahtam, Banu; Dehaes, Mathieu; Sliva, Danielle D; Peters, Jurriaan M; Krueger, Darcy A; Bebin, Elizabeth Martina; Northrup, Hope; Wu, Joyce Y; Warfield, Simon K; Sahin, Mustafa; Grant, Patricia Ellen; TACERN Study Group	November 2019	Not Determined
31297797	Create Study	Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex.	Epilepsia	Davis, Peter E; Kapur, Kush; Filip-Dhima, Rajna; Trowbridge, Sara K; Little, Elaina; Wilson, Andrew; Leuchter, Andrew; Bebin, Elizabeth M; Krueger, Darcy; Northrup, Hope; Wu, Joyce Y; Sahin, Mustafa; Peters, Jurriaan M; Tuberous Sclerosis Autism Centers of Excellence Research Network	August 2019	Not Determined
31261349	Create Study	Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex.	Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society	Peters, Jurriaan M; Hyde, Damon E; Chu, Catherine J; Boom, Merel; Scherrer, Benoit; Madsen, Joseph R; Stone, Scellig S; Ouaalam, Hakim; Prabhu, Sanjay P; Sahin, Mustafa; Warfield, Simon K	January 2020	Not Determined
31006514	Create Study	Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.	American journal of human genetics	Smith, Iris Nira; Thacker, Stetson; Seyfi, Marilyn; Cheng, Feixiong; Eng, Charis	May 2019	Not Determined
31005478	Create Study	Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.	Pediatric neurology	Farach, Laura S; Pearson, Deborah A; Woodhouse, John P; Schraw, Jeremy M; Sahin, Mustafa; Krueger, Darcy A; Wu, Joyce Y; Bebin, Elizabeth M; Lupo, Philip J; Au, Kit Sing; Northrup, Hope; TACERN Study Group	July 2019	Not Determined
30921255	Create Study	Incontinence in Phelan-McDermid Syndrome.	Journal of pediatric gastroenterology and nutrition	Witmer, Claire; Mattingly, Aviva; DʼSouza, Precilla; Thurm, Audrey; Hadigan, Colleen	August 2019	Not Determined
30614812	Create Study	PTEN-opathies: from biological insights to evidence-based precision medicine.	The Journal of clinical investigation	Yehia, Lamis; Ngeow, Joanne; Eng, Charis	February 2019	Relevant
30564771	Create Study	Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG.	Epilepsia open	Nariai, Hiroki; Wu, Joyce Y; Bernardo, Danilo; Fallah, Aria; Sankar, Raman; Hussain, Shaun A	December 2018	Relevant
30443929	Create Study	Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition.	Magnetic resonance in medicine	Marami, Bahram; Scherrer, Benoit; Khan, Shadab; Afacan, Onur; Prabhu, Sanjay P; Sahin, Mustafa; Warfield, Simon K; Gholipour, Ali	May 2019	Relevant
30424962	Create Study	Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex.	Pediatric neurology	Peters, Jurriaan M; Prohl, Anna; Kapur, Kush; Nath, Audrey; Scherrer, Benoit; Clancy, Sean; Prabhu, Sanjay P; Sahin, Mustafa; Franz, David Neal; Warfield, Simon K; Krueger, Darcy A	January 2019	Relevant
30396833	Create Study	Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.	Pediatric neurology	Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M,	January 2019	Relevant
30392627	Create Study	Development and Validation of Objective and Quantitative Eye Tracking-Based Measures of Autism Risk and Symptom Levels.	Journal of the American Academy of Child and Adolescent Psychiatry	Frazier TW, Klingemier EW, Parikh S, Speer L, Strauss MS, Eng C, Hardan AY, Youngstrom EA	November 2018	Relevant
30296632	Create Study	High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex.	Epilepsy research	Hussain SA, Schmid E, Peters JM, Goyal M, Bebin EM, Northrup H, Sahin M, Krueger DA, Wu JY,	December 2018	Relevant
30149055	Create Study	A unified circuit for social behavior.	Neurobiology of learning and memory	Modi, Meera E; Sahin, Mustafa	November 2019	Relevant
30120133	Create Study	Removing high-frequency oscillations: A prospective multicenter study on seizure outcome.	Neurology	Jacobs, Julia; Wu, Joyce Y; Perucca, Piero; Zelmann, Rina; Mader, Malenka; Dubeau, Francois; Mathern, Gary W; Schulze-Bonhage, Andreas; Gotman, Jean	September 11, 2018	Not Determined
30117265	Create Study	A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).	American journal of medical genetics. Part C, Seminars in medical genetics	de Vries, Petrus J; Wilde, Lucy; de Vries, Magdalena C; Moavero, Romina; Pearson, Deborah A; Curatolo, Paolo	September 2018	Relevant
30101418	Create Study	The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders.	Clinical pharmacology and therapeutics	Modi, Meera E; Sahin, Mustafa	October 2018	Relevant
29939236	Create Study	Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex.	Cerebral cortex (New York, N.Y. : 1991)	Baumer, Fiona M; Peters, Jurriaan M; Clancy, Sean; Prohl, Anna K; Prabhu, Sanjay P; Scherrer, Benoit; Jansen, Floor E; Braun, Kees P J; Sahin, Mustafa; Stamm, Aymeric; Warfield, Simon K	October 2018	Not Determined
29854952	Create Study	Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder.	Science advances	Curtin, Paul; Austin, Christine; Curtin, Austen; Gennings, Chris; Arora, Manish; (for the Emergent Dynamical Systems Group); Tammimies, Kristiina; Willfors, Charlotte; Berggren, Steve; Siper, Paige; Rai, Dheeraj; Meyering, Kristin; Kolevzon, Alexander; Mollon, Josephine; David, Anthony S; Lewis, Glyn; Zammit, Stanley; Heilbrun, Lynne; Palmer, Raymond F; Wright, Robert O; Bölte, Sven; Reichenberg, Abraham	May 2018	Relevant
29719671	Create Study	Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.	Molecular autism	De Rubeis, Silvia; Siper, Paige M; Durkin, Allison; Weissman, Jordana; Muratet, François; Halpern, Danielle; Trelles, Maria Del Pilar; Frank, Yitzchak; Lozano, Reymundo; Wang, A Ting; Holder Jr, J Lloyd; Betancur, Catalina; Buxbaum, Joseph D; Kolevzon, Alexander	January 1, 2018	Not Determined
29687739	Create Study	Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex.	Journal of child neurology	Van Der Poest Clement EA, Sahin M, Peters JM	July 2018	Relevant
29673547	Create Study	Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex.	Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology	Bernardo D, Nariai H, Hussain SA, Sankar R, Salamon N, Krueger DA, Sahin M, Northrup H, Bebin EM, Wu JY,	July 2018	Not Determined
29663862	Create Study	Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.	Journal of biomolecular structure & dynamics	Smith IN, Thacker S, Jaini R, Eng C	April 2019	Relevant
29572283	Create Study	Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex.	Neurology	Srivastava, Siddharth; Prohl, Anna K; Scherrer, Benoit; Kapur, Kush; Krueger, Darcy A; Warfield, Simon K; Sahin, Mustafa; TACERN Study Group	April 24, 2018	Not Determined
29402632	Create Study	Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome.	Epilepsy & behavior : E&B	Khan OI, Zhou X, Leon J, Kessler R, Gaughan T, D'Souza P, Gropman A, Cohen N, Rennert O, Buckley A, Inati S, Thurm A	March 2018	Relevant
29265961	Create Study	Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.	The Clinical neuropsychologist	Soorya, Latha; Leon, Jill; Trelles, M Pilar; Thurm, Audrey	August 2018	Relevant
29265708	Create Study	The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.	American journal of medical genetics. Part A	Farach, Laura S; Little, Mary E; Duker, Angela L; Logan, Clare V; Jackson, Andrew; Hecht, Jaqueline T; Bober, Michael	February 2018	Relevant
29233840	Create Study	Microbiome in PTEN hamartoma tumor syndrome.	Endocrine-related cancer	Byrd V, Getz TM, Padmanabhan R, Arora H, Eng C	December 2017	Relevant
29101226	Create Study	Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.	Pediatrics	Davis, Peter E; Filip-Dhima, Rajna; Sideridis, Georgios; Peters, Jurriaan M; Au, Kit Sing; Northrup, Hope; Bebin, E Martina; Wu, Joyce Y; Krueger, Darcy; Sahin, Mustafa; Tuberous Sclerosis Complex Autism Center of Excellence Research Network	December 2017	Relevant
28844798	Create Study	Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex.	Pediatric neurology	Capal, Jamie K; Horn, Paul S; Murray, Donna S; Byars, Anna Weber; Bing, Nicole M; Kent, Bridget; Bucher, Lindsey A; Williams, Marian E; O'Kelley, Sarah; Pearson, Deborah A; Sahin, Mustafa; Krueger, Darcy A; TACERN Study Group	October 2017	Relevant
28714064	Create Study	Assessing the validity of the approximation of diffusion-weighted-MRI signals from crossing fascicles by sums of signals from single fascicles.	Magnetic resonance in medicine	Rensonnet G, Scherrer B, Warfield SK, Macq B, Taquet M	April 2018	Relevant
28649286	Create Study	Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.	Journal of neurodevelopmental disorders	Srivastava S, Sahin M	January 2017	Relevant
28647006	Create Study	A Meta-Analysis of Gaze Differences to Social and Nonsocial Information Between Individuals With and Without Autism.	Journal of the American Academy of Child and Adolescent Psychiatry	Frazier, Thomas W; Strauss, Mark; Klingemier, Eric W; Zetzer, Emily E; Hardan, Antonio Y; Eng, Charis; Youngstrom, Eric A	July 2017	Relevant
28644979	Create Study	Intraoperative fast ripples independently predict postsurgical epilepsy outcome: Comparison with other electrocorticographic phenomena.	Epilepsy research	Hussain SA, Mathern GW, Hung P, Weng J, Sankar R, Wu JY	September 2017	Relevant
28643795	Create Study	The genomic landscape of tuberous sclerosis complex.	Nature communications	Martin KR, Zhou W, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, Deroos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, Northrup H, Krueger DA, Mackeigan JP	June 2017	Relevant
28457992	Create Study	Influence of seizures on early development in tuberous sclerosis complex.	Epilepsy & behavior : E&B	Capal, Jamie K; Bernardino-Cuesta, Beatriz; Horn, Paul S; Murray, Donna; Byars, Anna Weber; Bing, Nicole M; Kent, Bridget; Pearson, Deborah A; Sahin, Mustafa; Krueger, Darcy A; TACERN Study Group	May 2017	Relevant
28296264	Create Study	A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD.	Autism research : official journal of the International Society for Autism Research	Siper, Paige M; Kolevzon, Alexander; Wang, A Ting; Buxbaum, Joseph D; Tavassoli, Teresa	June 1, 2017	Not Determined
28255759	Create Study	Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder.	Journal of autism and developmental disorders	Rankine, Jacquelin; Li, Erin; Lurie, Stacey; Rieger, Hillary; Fourie, Emily; Siper, Paige M; Wang, A Ting; Buxbaum, Joseph D; Kolevzon, Alexander	June 2017	Relevant
27860216	Create Study	Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.	American journal of medical genetics. Part C, Seminars in medical genetics	Keppler-Noreuil, Kim M; Parker, Victoria E R; Darling, Thomas N; Martinez-Agosto, Julian A	December 2016	Relevant
27834639	Create Study	Motion-Robust Diffusion-Weighted Brain MRI Reconstruction Through Slice-Level Registration-Based Motion Tracking.	IEEE transactions on medical imaging	Marami B, Scherrer B, Afacan O, Erem B, Warfield SK, Gholipour A	October 2016	Relevant
27815402	Create Study	Long-term treatment of epilepsy with everolimus in tuberous sclerosis.	Neurology	Krueger, Darcy A; Wilfong, Angus A; Mays, Maxwell; Talley, Christina M; Agricola, Karen; Tudor, Cindy; Capal, Jamie; Holland-Bouley, Katherine; Franz, David Neal	December 6, 2016	Not Determined
27267556	Create Study	Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.	Pediatric neurology	Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA,	July 2016	Relevant
27199644	Create Study	Editorial: Essential Pathways and Circuits of Autism Pathogenesis.	Frontiers in neuroscience	Dölen, Gül; Sahin, Mustafa	January 2016	Relevant
27015721	Create Study	Development of an Objective Autism Risk Index Using Remote Eye Tracking.	Journal of the American Academy of Child and Adolescent Psychiatry	Frazier, Thomas W; Klingemier, Eric W; Beukemann, Mary; Speer, Leslie; Markowitz, Leslie; Parikh, Sumit; Wexberg, Steven; Giuliano, Kimberly; Schulte, Elaine; Delahunty, Carol; Ahuja, Veena; Eng, Charis; Manos, Michael J; Hardan, Antonio Y; Youngstrom, Eric A; Strauss, Mark S	April 2016	Relevant
26780584	Create Study	The therapeutic potential of insulin-like growth factor-1 in central nervous system disorders.	Neuroscience and biobehavioral reviews	Costales J, Kolevzon A	April 2016	Relevant
26715604	Create Study	Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.	Brain : a journal of neurology	Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M	February 2016	Relevant
26658953	Create Study	Development and psychometric evaluation of a psychosocial quality-of-life questionnaire for individuals with autism and related developmental disorders.	Autism : the international journal of research and practice	Markowitz, Leslie A; Reyes, Charina; Embacher, Rebecca A; Speer, Leslie L; Roizen, Nancy; Frazier, Thomas W	October 2016	Relevant
26579216	Create Study	Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits.	Molecular autism	He X, Thacker S, Romigh T, Yu Q, Frazier TW, Eng C	January 2015	Relevant
26540169	Create Study	Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.	PLoS genetics	Tyburczy, Magdalena E; Dies, Kira A; Glass, Jennifer; Camposano, Susana; Chekaluk, Yvonne; Thorner, Aaron R; Lin, Ling; Krueger, Darcy; Franz, David N; Thiele, Elizabeth A; Sahin, Mustafa; Kwiatkowski, David J	November 1, 2015	Not Determined
26529580	Create Study	Improved fidelity of brain microstructure mapping from single-shell diffusion MRI.	Medical image analysis	Taquet M, Scherrer B, Boumal N, Peters JM, Macq B, Warfield SK	December 2015	Relevant
26512313	Create Study	Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families.	Molecular autism	Frazier, Thomas W; Youngstrom, Eric A; Hardan, Antonio Y; Georgiades, Stelios; Constantino, John N; Eng, Charis	January 1, 2015	Not Determined
26472761	Create Study	Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders.	Science (New York, N.Y.)	Sahin, Mustafa; Sur, Mriganka	November 2015	Relevant
26362832	Create Study	Characterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND).	Magnetic resonance in medicine	Scherrer B, Schwartzman A, Taquet M, Sahin M, Prabhu SP, Warfield SK	September 2016	Relevant
26303409	Create Study	Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex.	Journal of child neurology	Sundberg M, Sahin M	December 2015	Relevant
26076992	Create Study	Therapeutic Advances in Autism and Other Neurodevelopmental Disorders.	Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics	Neul, Jeffrey L; Sahin, Mustafa	July 2015	Relevant
25986747	Create Study	Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism.	Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics	Davis, Peter E; Peters, Jurriaan M; Krueger, Darcy A; Sahin, Mustafa	July 2015	Relevant
25916396	Create Study	Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.	Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics	Tilot, Amanda K; Frazier 2nd, Thomas W; Eng, Charis	July 2015	Relevant
25817702	Create Study	Longitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex.	Pediatric neurology	Baumer FM, Song JW, Mitchell PD, Pienaar R, Sahin M, Grant PE, Takahashi E	June 2015	Relevant
25750257	Create Study	Altered Structural Brain Networks in Tuberous Sclerosis Complex.	Cerebral cortex (New York, N.Y. : 1991)	Im K, Ahtam B, Haehn D, Peters JM, Warfield SK, Sahin M, Ellen Grant P	May 2016	Relevant
25695134	Create Study	Autism and the synapse: emerging mechanisms and mechanism-based therapies.	Current opinion in neurology	Ebrahimi-Fakhari D, Sahin M	April 2015	Relevant
25385396	Create Study	Hypsarrhythmia assessment exhibits poor interrater reliability: a threat to clinical trial validity.	Epilepsia	Hussain SA, Kwong G, Millichap JJ, Mytinger JR, Ryan N, Matsumoto JH, Wu JY, Lerner JT, Sankar R	January 2015	Relevant
25374355	Create Study	The neurology of mTOR.	Neuron	Lipton JO, Sahin M	October 2014	Relevant

helpcenter.collection.publications-tab

Collection - Publications

The number of Publications is displayed in parentheses next to the tab name. Clicking on any of the Publication Titles will open the Publication in a new internet browsing tab.

Collection Owners, Program Officers, and users with Submission or Administrative Privileges for the Collection may mark a publication as either Relevant or Not Relevant in the Status column.

Frequently Asked Questions

How can I determine if a publication is relevant?

Publications are considered relevant to a collection when the data shared is directly related to the project or collection.
Where does the NDA get the publications?

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

Glossary

Create Study

A link to the Create an NDA Study page that can be clicked to start creating an NDA Study with information such as the title, journal and authors automatically populated.
Not Determined Publication

Indicates that the publication has not yet been reviewed and/or marked as Relevant or Not Relevant so it has not been determined whether an NDA Study is expected.
Not Relevant Publication

A publication that is not based on data related to the aims of the grant/project associated with the Collection or not based on any data such as a review article and, therefore, an NDA Study is not expected to be created.
PubMed

PubMed provides citation information for biomedical and life sciences publications and is managed by the U.S. National Institutes of Health's National Library of Medicine.
PubMed ID

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

A publication that is based on data related to the aims of the grant/project associated with the Collection and, therefore, an NDA Study is expected to be created.

Contact NDA Help Desk

Data Expected List: Mandatory Data Structures

These data structures are mandatory for your NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

For NIMH HIV-related research that involves human research participants: Select the dictionary or dictionaries most appropriate for your research. If your research does not require all three data dictionaries, just ignore the ones you do not need. There is no need to delete extra data dictionaries from your NDA Collection. You can adjust the Targeted Enrollment column in the Data Expected tab to “0” for those unnecessary data dictionaries. At least one of the three data dictionaries must have a non-zero value.

Data Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Research Subject and Pedigree	330	07/15/2015	514	11/15/2015	286	Approved

To create your project's Data Expected list, use the "+New Data Expected" to add or request existing structures and to request new Data Structures that are not in the NDA Data Dictionary.

If the Structure you need already exists, locate it and specify your dates and enrollment when adding it to your Data Expected list. If you require changes to the Structure you need, select the indicator stating "No, it requires changes to meet research needs," and upload a file containing your requested changes.

If the structure you need is not yet defined in the Data Dictionary, you can select "Upload Definition" and attach the necessary materials to request its creation.

When selecting the expected dates for your data, make sure to follow the standard Data Sharing Regimen and choose dates within the date ranges that correspond to your project start and end dates.

Please visit the Completing Your Data Expected Tutorial for more information.

Data Expected List: Data Structures per Research Aims

These data structures are specific to your research aims and should list all data structures in which data will be collected and submitted for this NDA Collection. Please update the Targeted Enrollment number to accurately represent the number of subjects you expect to submit for the entire study.

Data Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Mullen Scales of Early Learning	330	01/15/2021	491	05/15/2021	146	Approved
ABC Community	330	01/15/2016	510	05/15/2016	288	Approved
ADOS	330	01/15/2021	362	05/15/2021	297	Approved
ADI-R	330	01/15/2021	368	05/15/2021	279	Approved
Expressive Vocabulary Test II (EVT II)	330	01/15/2016	375	05/15/2016	239	Approved
Medical History	330	01/15/2016	554	05/15/2016	329	Approved
Social Responsiveness Scale (SRS)	330	01/15/2016	437	05/15/2016	314	Approved
Demographics	330	01/15/2016	570	05/15/2016	342	Approved
Child Behavior Checklist (CBCL)	330	01/15/2016	382	05/15/2016	303	Approved
Conners	240	01/15/2016	113	05/15/2016	113	Approved
Beery-Buktenica Developmental Test of Visual-Motor Integration	330	01/15/2016	285	05/15/2016	214	Approved
Wechsler Intelligence Scale for Children	11	05/09/2016	34	05/09/2016	34	Approved
Diet/Food Diary/Log	48	05/09/2016	289	05/09/2016	289	Approved
DAS-II: Differential Ability Scales	90	01/15/2021	35	05/15/2021	14	Approved
Peabody Picture Vocabulary Test, Fourth Edition	330	01/15/2016	531	05/15/2016	260	Approved
Wechsler Adult Intelligence Scale	330	01/15/2016	4	05/15/2016	4	Approved
Repetitive Behavior Scale - Revised (RBS-R)	330	01/15/2016	553	05/15/2016	320	Approved
Wechsler Preschool Primary Scale Intelligence (WPPSI)	2	05/09/2016	10	05/09/2016	10	Approved
Stanford Binet	330	01/15/2021	534	05/15/2021	257	Approved
Physical Exam	330	01/15/2016	323	05/15/2016	323	Approved
Sensory Profile	330	01/15/2016	492	05/15/2016	318	Approved
Behavior Rating Inventory of Executive Function (BRIEF)	240	01/15/2016	290	05/15/2016	220	Approved
Classification of Seizures	48	05/09/2016	514	05/09/2016	289	Approved
School Attendance	47	05/09/2016	289	05/09/2016	289	Approved
Youth Self Report	330	01/15/2016	96	05/15/2016	13	Approved
Developmental Coordination Disorder Questionnaire (DCDQ)	330	01/15/2016	465	05/15/2016	318	Approved
Vineland (Parent and Caregiver)	330	01/15/2016	351	05/15/2016	312	Approved
Imaging (Structural, fMRI, DTI, PET, microscopy)	100	01/15/2016	76	05/15/2016	76	Approved
Treatment Intervention	48	05/09/2016	289	05/09/2016	289	Approved
Speech and Language Assessment	48	05/09/2016	515	05/09/2016	289	Approved
Autism Clinical Certainty Score	330	01/15/2021	514	05/15/2021	291	Approved

Structure not yet defined

No Status history for this Data Expected has been recorded yet

helpcenter.collection.data-expected-tab

Collection - Data Expected

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

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

Researchers who are starting their project need to update their Data Expected list to include all the Data Structures they are collecting under their grant and set their initial submission and sharing schedule according to the NDA Data Sharing Regimen.

To add existing Data Structures from the Data Dictionary, to request new Data Structure that are not in the Dictionary, or to request changes to existing Data Structures, click "+New Data Expected".

For step-by-step instructions on how to add existing Data Structures, request changes to an existing Structure, or request a new Data Structure, please visit the Completing Your Data Expected Tutorial.

If you are a contributing researcher creating this list for the first time, or making changes to the list as your project progress, please note the following:

Although items you add to the list and changes you make are displayed, they are not committed to the system until you Save the entire page using the "Save" button at the bottom of your screen. Please Save after every change to ensure none of your work is lost.
If you attempt to add a new structure, the title you provide must be unique - if another structure exists with the same name your change will fail.
Adding a new structure to this list is the only way to request the creation of a new Data Dictionary definition.

Frequently Asked Questions

What is an NDA Data Structure?

An NDA Data Structure is comprised of multiple Data Elements to make up an electronic definition of an assessment, measure, questionnaire, etc will have a corresponding Data Structure.
What is the NDA Data Dictionary?

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

Glossary

Analyzed Data

Data specific to the primary aims of the research being conducted (e.g. outcome measures, other dependent variables, observations, laboratory results, analyzed images, volumetric data, etc.) including processed images.
Data Item

Items listed on the Data Expected list in the Collection which may be an individual and discrete Data Structure, Data Structure Category, or Data Structure Group.
Data Structure

A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
Data Structure Category

An NDA term describing the affiliation of a Data Structure to a Category, which may be disease/disorder or diagnosis related (Depression, ADHD, Psychosis), specific to data type (MRI, eye tracking, omics), or type of data (physical exam, IQ).
Data Structure Group

A Data Item listed on the Data Expected tab of a Collection that indicates a group of Data Structures (e.g., ADOS or SCID) for which data may be submitted instead of a specific Data Structure identified by version, module, edition, etc. For example, the ADOS Data Structure Category includes every ADOS Data Structure such as ADOS Module 1, ADOS Module 2, ADOS Module 1 - 2nd Edition, etc. The SCID Data Structure Group includes every SCID Data Structure such as SCID Mania, SCID V Mania, SCID PTSD, SCID-V Diagnosis, and more.
Evaluated Data

A new Data Structure category, Evaluated Data is analyzed data resulting from the use of computational pipelines in the Cloud and can be uploaded directly back to a miNDAR database. Evaluated Data is expected to be listed as a Data Item in the Collection's Data Expected Tab.
Imaging Data

Imaging+ is an NDA term which encompasses all imaging related data including, but not limited to, images (DTI, MRI, PET, Structural, Spectroscopy, etc.) as well as neurosignal data (EEG, fMRI, MEG, EGG, eye tracking, etc.) and Evaluated Data.
Initial Share Date

Initial Submission and Initial Share dates should be populated according to the NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data will be shared with authorized users upon publication (via an NDA Study) or 1-2 years after the grant end date specified on the first Notice of Award, as defined in the applicable Data Sharing Terms and Conditions.
Initial Submission Date

Initial Submission and Initial Share dates should be populated according to these NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data for all subjects is not expected on the Initial Submission Date and modifications may be made as necessary based on the project's conduct.
Research Subject and Pedigree

An NDA created Data Structure used to convey basic information about the subject such as demographics, pedigree (links family GUIDs), diagnosis/phenotype, and sample location that are critical to allow for easier querying of shared data.
Submission Cycle

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

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

Contact NDA Help Desk

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

Associated Studies

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

Study NameFilter by Study Name	AbstractFilter by Abstract	Collection/Study SubjectsFilter by Collection/Study Subjects	Data UsageFilter by Data Usage	StateFilter by State
Examining the validity of the use of ratio IQs in psychological assessments	IQ tests are amongst the most used psychological assessments, both in research and clinical settings. For participants who cannot complete IQ tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ, especially in large research databases to avoid missing data points. However, because it has never been scientifically validated, this practice is questionable. In the era of big data, it is important to examine the validity of this widely used practice. In this paper, we use the case of autism to examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which ages, FSIQ scores and subtests raw scores were available for autistic participants between 2 and 17 years old. The IQ tests included were the MSEL (N=12033), DAS-II early years (N=1270), DAS-II school age (N=2848), WISC-IV (N=471) and WISC-V (N=129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed two linear regressions to respectively assess the effect of FSIQ and of age on the DSC for each IQ test, followed by additional analyses comparing age subgroups as well as FSIQ subgroups on DSC. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. These results question the validity of this widely used alternative scoring method, especially for individuals at the extremes of the normal distribution, with whom RIQs are most often employed.	34/17423	Secondary Analysis	Shared
The importance of low IQ to early diagnosis of autism	Some individuals can flexibly adapt to life’s changing demands while others, in particular those with Autism Spectrum Disorder (ASD), find it challenging. The origin of early individual differences in cognitive abilities, the putative tools with which to navigate novel information in life, including in infants later diagnosed with ASD remains unexplored. Moreover, the role of intelligence quotient (IQ) vis-à-vis core features of autism remains debated. We systematically investigate the contribution of early IQ in future autism outcomes in an extremely large, population-based study of 8,000 newborns, infants, and toddlers from the US between 2 and 68 months with over 15,000 cross-sectional and longitudinal assessments, and for whom autism outcomes are ascertained or ruled out by about 2-4 years. This population is representative of subjects involved in the National Institutes of Health (NIH)-funded research, mainly on atypical development, in the US. Analyses using predetermined age bins showed that IQ scores are consistently lower in ASD relative to TD at all ages (p<0.001), and IQ significantly correlates with calibrated severity scores (total CSS, as well as non-verbal and verbal CSS) on the ADOS. Note, VIQ is no better than the full-scale IQ to predict ASD cases. These findings raise new, compelling questions about potential atypical brain circuitry affecting performance in both verbal and nonverbal abilities and that precede an ASD diagnosis. This study is the first to establish prospectively that low early IQ is a major feature of ASD in early childhood.	17/6323	Secondary Analysis	Shared
Examining Diagnostic Trends and Gender Differences in the ADOS-II	Approximately 3–4 boys for every girl meet the clinical criteria for autism in studies of community diagnostic patterns and studies of autism using samples of convenience. However, girls with autism have been hypothesized to be underdiagnosed, possibly because they may present with differing symptom profiles as compared to boys. This secondary data analysis used the National Database of Autism Research (NDAR) to examine how gender and symptom profiles are associated with one another in a gold standard assessment of autism symptoms, the Autism Diagnostic Observation Schedule II (ADOS-II; Lord, C., Luyster, R., Guthrie, W., & Pickles A. (2012a). Patterns of developmental trajectories in toddlers with autism spectrum disorder. Journal of Consulting and Clinical Psychology, 80(3):477–489. https://doi.org/10.1037/a0027214. Epub 2012 Apr 16. PMID: 22506796, PMCID: PMC3365612). ADOS-II scores from 6183 children ages 6–14 years from 78 different studies in the NDAR indicated that gender was a significant predictor of total algorithm, restrictive and repetitive behavioral, and social communicative difficulties composite severity scores. These findings suggest that gender differences in ADOS scores are common in many samples and may reflect on current diagnostic practices.	183/5615	Secondary Analysis	Shared
Gender Differences: Confirmatory Factor Analysis of the ADOS-II	Purpose Recent research has suggested that autism may present differently in girls compared to boys, encouraging the exploration of a sex-differential diagnostic criteria. Gender differences in diagnostic assessments have been shown on the ADOS-II, such that, on average, females score significantly lower than males on all scales and are less likely to show atypicality on most items related to social communicative difficulties. Yet, gender differences in the latent structure of instruments like the ADOS-II have not been examined systematically. Methods As such, this secondary data analysis examined 4,100 youth diagnosed with autism (Mage = 9.9, 813 female & 3287 male) examined item response trends by gender on the ADOS-II Module 3. Results Multi-Group Confirmatory Factor Analysis results show that the factor loadings of four ADOS-II items differ across the genders. One SCD item and one RRB item are strongly related to the latent factor in the female group, while two RRB items have larger factor loadings in the male group. Conclusion The assumption of an identical latent factor structure for the ADOS-II Module 3 for males and females might not be justifiable. Possible diagnostic implications are discussed.	183/5615	Secondary Analysis	Shared
Prognostic early snapshot stratification of autism based on adaptive functioning	A major goal of precision medicine is to predict prognosis based on individualized information at the earliest possible points in development. Using early snapshots of adaptive functioning and unsupervised data- driven discovery methods, we uncover highly stable early autism subtypes that yield information relevant to later prognosis. Data from the National Institute of Mental Health Data Archive (NDA) (n = 1,098) was used to uncover three early subtypes (<72 months) that generalize with 96% accuracy. Outcome data from NDA (n = 2,561; mean age, 13 years) also reproducibly clusters into three subtypes with 99% generalization accuracy. Early snapshot subtypes predict developmental trajectories in non-verbal cognitive, language and motor domains and are predictive of membership in different adaptive functioning outcome subtypes. Robust and prognosis- relevant subtyping of autism based on early snapshots of adaptive functioning may aid future research work via prediction of these subtypes with our reproducible stratification model.	121/3517	Secondary Analysis	Shared
Investigating autism etiology and heterogeneity by decision tree algorithm	Autism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism.	4/3382	Secondary Analysis	Shared
Word Learning and Word Features	Vocabulary composition and word-learning biases are closely interrelated in typical development. Learning new words involves attending to certain properties to facilitate word learning. Such word-learning biases are influenced by perceptually and conceptually salient word features, including high imageability, concreteness, and iconicity. This study examined the association of vocabulary knowledge and word features in young children with ASD (n = 280) and typically developing (TD) toddlers (n = 1,054). Secondary analyses were conducted using data from the National Database for Autism Research and the Wordbank database. Expressive vocabulary was measured using the MacArthur-Bates Communicative Development Inventory. Although the trajectories for concreteness, iconicity, and imageability are similar between children with ASD and TD toddlers, divergences were observed. Differences in imageability are seen early but resolve to a common trajectory; differences in iconicity are small but consistent; and differences in concreteness only emerge after both groups reach a simultaneous peak, before converging again. This study reports unique information about the nonlinear growth patterns associated with each word feature for and distinctions in these growth patterns between the groups.	1/280	Primary Analysis	Shared
Examining the Shape Bias in Young Autistic Children: A Vocabulary Composition Analysis	Shape is a salient object property and one of the first that children use to categorize objects under one label. Colunga and Sims (2017) suggest that noun vocabulary composition and word learning biases are closely interrelated in typical development. The current study examined the association between noun vocabulary knowledge and perceptual word features, specifically shape and material features. Participants included 249 autistic children and 1,245 non-autistic toddlers who were matched on expressive noun vocabulary size and gender. Nouns were categorized using the Samuelson and Smith (1999) noun feature database. A simple group comparison revealed no group differences in shape bias; both groups evidenced developing noun vocabularies that favored shape+solid and nonsolid+material nouns. However, the trajectory of evidence of shape bias as a function of vocabulary size differed between the groups, with autistic children demonstrating a reduced shape-bias initially. Future work should examine how children’s learning biases shift over development and whether the shape bias promotes lexical development to the same degree across groups.	2/249	Secondary Analysis	Shared
Modeling Vocabulary Growth in Autistic and Non-Autistic Children	We assessed the goodness of fit of three models of vocabulary growth, with varying sensitivity to the structure of the environment and the learner’s internal state, to estimated vocabulary growth trajectories in autistic and non-autistic children. We first computed word-level acquisition norms that indicate the vocabulary size at which individual words tend to be learned by each group. We then evaluated how well network growth models based on natural language co-occurrence structure and word associations account for variance in the autistic and non-autistic acquisition norms. In addition to replicating key observations from prior work and observing that the growth models explained similar amounts of variance in each group, we found that autistic vocabulary growth also exhibits growth consistent with “the lure of the associates” model. Thus, both groups leverage semantic structure in the learning environment for vocabulary development, but autistic vocabulary growth is also strongly influenced by existing vocabulary knowledge.	2/247	Secondary Analysis	Shared
Semantic modeling 2023	Although it is well documented that children with ASD are slower to develop their lexicons, we still have a limited understanding of the structure of early lexical knowledge in children with ASD. The current study uses network analysis and differential item functioning anlaysis to examine the structure of semantic knowledge, which may provide insight into the learning processes that influence early word learning.	2/208	Secondary Analysis	Shared
Semantic Network Modeling	Although it is well documented that children with ASD are slower to develop their lexicons, we still have a limited understanding of the structure of early lexical knowledge in children with ASD. The current study uses network analysis to examine the structure of semantic knowledge, which may provide insight into the learning processes that influence early word learning.	2/200	Secondary Analysis	Shared
Semantic Network Modeling in Young Autistic Children	Background: Most young autistic children have delayed vocabulary growth relative to their non-autistic peers. Additionally, previous studies have revealed that autistic children are less likely to encode associated features of novel objects, suggesting inefficient encoding or different processes for acquiring semantic information about words. Recent network analyses of vocabulary growth revealed important relationships between early vocabulary acquisition and the structure of the sematic environment. Methods: We studied the expressive vocabularies of 970 non-autistic toddlers (Mage = 20.82 months) and 194 autistic children (Mage = 54.58 months) in two studies. The groups were vocabulary-matched (words produced: MAutistic = 213.60, MNon-autistic = 213.72). In study 1, we estimated their trajectories of semantic development using network analyses. Network structure was based on child-oriented adult-generated word associations. We compared child semantic networks according to indegree, average shortest path length, and clustering coefficient (features that holistically contribute to well-connected network structure). Then, in study 2, we attempted to relate vocabulary-level effects to word-level learning biases. Results: Study 1 revealed that autistic and non-autistic children are sensitive to the structure of their semantic environment. Both groups demonstrated nonlinear vocabulary trajectories that differed from random acquisition networks. Despite similarities, group differences were observed for each network metric. Differences were most pronounced for clustering coefficient (how closely connected groups of words are), with earlier peaks for autistic children. Study 2 demonstrated that many words differ in their expected vocabulary size of acquisition. Conclusions: Group differences at the vocabulary- and word-levels indicate that, although autistic children are learning from their semantic environment, they may be processing their semantic environment differently. These deviations indicate that autistic children have distinctive learning biases that may align with core autism features.	2/194	Secondary Analysis	Shared

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