NIMH Data Archive - Data

Genomics

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¹ Numbers reported are subjects by age

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

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

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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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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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1/9 to 9/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders #3228

General
Experiments (2)
Shared Data
Publications (84)
Data Expected (2)
Associated Studies (0)

Collection Title	Collection Investigators	Collection Description
Collection Title:	1/9 to 9/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders
Collection Investigators:	Raquel Gur, Carrie Bearden, Anne Swillen, Jonathan Sebat, Donna Marie McDonald-McGinn, Jacob Vorstman, Thererese Van Amelsvoort, Marianne Van den Bree , Sebastien Jacquemont
Collection Description:	The International Consortium on Brain and Behavior Copy Number Variants IBBC-CNVs is a collaborative effort of 9 institutions with complementary experience and expertise in phenomics and genomics. The 22q11.2 and 16p11.2 loci are associated with significant risk for neuropsychiatric disorders across the lifespan. The clinical presentations are heterogeneous, manifesting in a range of developmental neuropsychiatric disorders, including Attention Deficit Hyperactivity, Anxiety, Autism Spectrum, and Psychosis Spectrum Disorders. Taking a genetics first approach of ascertaining patients based on known, homogeneous genetic etiologies will allow us to overcome barriers posed by the genetic and phenotypic complexity of idiopathic developmental neuropsychiatric disorders. We postulate that CNVs exert a large main effect on psychopathology, but the nature and degree of psychopathology observed in CNV carriers is multifactorial, with contributions from additional rare and common genetic variants, as well as environmental factors. Therefore, dissecting the effects of major CNV hits as well as additional rare and common variants on dimensional measures of psychopathology can elucidate the combined contribution of genetic mechanisms to psychiatric conditions and build models of risk prediction. Notably, the presentation and course of psychopathology in the CNVs resemble these features in idiopathic disorders. Therefore, beyond the specific genetic syndromes investigated, such across-CNV effort will identify convergent risk mechanisms for developmental neuropsychiatric disorders that are of relevance to the broader population. We propose to dissect dimensional measures of psychosis, social-emotional processing and neurocognition, and their genetic and environmental modifiers, to elucidate the architecture of risk for neuropsychiatric disorders in CNV carriers. Prospective evaluation with dimensional measures relevant to neuropsychiatric disorders will be applied to a cohort of 2000 individuals with 22q11.2 and 16p11.2 deletions and duplications 500 per group and their relatives as feasible. In addition, categorical psychiatric diagnoses will be assessed in CNV carriers. Recruitment for prospective phenotyping will leverage existing large cohorts that carry these reciprocal CNVs, many of whom have already been ascertained and characterized with a range of phenotypic measures. New whole genome sequencing WGS will be performed in CNV carriers that have not yet been sequenced. We will also utilize existing genetic data from the largest available case-control samples diagnosed with SZ, ASD, and ADHD in the PGC to generate polygenic risk scores. Finally, we will examine family and environmental factors that contribute to the heterogeneity of presentation and developmental course in CNV carriers. This project will establish common phenomic and genomic resources. Our ability to conceive such a large-scale study capitalizes on our existing successful collaborations, complementary expertise, and institutional commitments to achieve these goals.
Data Repository:	NIMH Data Archive
Permission Group:
Collection Creation Date:	07/09/2019
Collection Phase:	Enrolling
Blinded Clinical Trial:	No
Total Funded Amount:	$6,922,500.00
Subjects Shared:	817

{"values":[]}

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Funding Sources:

Funding Source Name	Funding Source URL
NIH - Extramural	None

Supporting Documentation:

File Name	File Type	Description	Audience
RP_53179_GUR_ndasubmissionrequest-12[8].pdf	Other	DSA	Qualified Researchers

Grant Information:

Project Number	Project Title	Start Date	End Date	Planned Enrollment	Actual Enrollment	Organization	Funds Obligated
U01MH119736-01	3/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders	06/15/2019	03/31/2025	500	283	UNIVERSITY OF CALIFORNIA LOS ANGELES	$449,161.00
U01MH119741-01	5/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders	06/20/2019	03/31/2024	Not Reported	Not Reported	HOSPITAL FOR SICK CHLDRN (TORONTO)	$1,208,937.00
U01MH119738-01	1/9: Dissecting the effects of genomic variants on nenriched for neuropsychiatric disorderseurobehavioral dimensions in CNVs	06/20/2019	03/31/2024	2000	590	UNIVERSITY OF PENNSYLVANIA	$996,097.00
U01MH119759-01	Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders	06/20/2019	03/31/2025	Not Reported	Not Reported	KATHOLIEKE UNIVERSITEIT LEUVEN	$512,780.00
U01MH119737-01	2/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.	06/20/2019	03/31/2024	600	16	CHILDRENS HOSP OF PHILADELPHIA	$887,590.00
U01MH119746-01	4/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders	06/20/2019	03/31/2024	Not Reported	Not Reported	UNIVERSITY OF CALIFORNIA, SAN DIEGO	$511,187.00
U01MH119740-01	8/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders	07/15/2019	03/31/2025	Not Reported	Not Reported	MAASTRICHT UNIVERSITY	$445,637.00
U01MH119758-01	7/9 Rare Genetic Disorders as a Window into the Genetic Architecture of Mental Disorders	08/02/2019	03/31/2025	Not Reported	Not Reported	CARDIFF UNIVERSITY	$1,394,287.00
U01MH119739-01	6/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.	04/01/2020	03/31/2025	Not Reported	Not Reported	SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR	$516,824.00

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
1995	GSA	04/27/2022	Approved	Omics
2116	WGS	09/27/2022	Approved	Omics

helpcenter.collection.experiments-tab

Collection - Experiments

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

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

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

Frequently Asked Questions

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

Glossary

Experiment Status

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

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

Contact NDA Help Desk

Shared Data:

Title	Type	Number of Subjects
Genomics Sample	Genomics	342
Research Subject	Clinical Assessments	619

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
38657658	Create Study	Association of behavioural and social-communicative profiles in children with 16p11.2 copy number variants: a multi-site study.	Journal of intellectual disability research : JIDR	Verbesselt, J; Walsh, L K; Mitchel, M W; Taylor, C M; Finucane, B M; Breckpot, J; Zink, I; Swillen, A	April 24, 2024	Not Determined
38605171	Create Study	Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study.	Molecular psychiatry	Supekar, Kaustubh; de Los Angeles, Carlo; Ryali, Srikanth; Kushan, Leila; Schleifer, Charlie; Repetto, Gabriela; Crossley, Nicolas A; Simon, Tony; Bearden, Carrie E; Menon, Vinod	April 12, 2024	Not Determined
38555309	Create Study	Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment.	Translational psychiatry	Bourque, Vincent-Raphael; Poulain, Cécile; Proulx, Catherine; Moreau, Clara A; Joober, Ridha; Forgeot d'Arc, Baudouin; Huguet, Guillaume; Jacquemont, Sébastien	March 30, 2024	Not Determined
38475925	Create Study	Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.	BMC psychology	Butter, Charlotte E; Goldie, Caitlin L; Hall, Jessica H; Leadbitter, Kathy; Burkitt, Emma M M; van den Bree, Marianne B M; Green, Jonathan M	March 12, 2024	Not Determined
38234766	Create Study	Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications.	Research square	Gur, Ruben; Bearden, Carrie; Jacquemont, Sébastien; Jizi, Khadije; Amelsvoort van, Therese; van den Bree, Marianne; Vorstman, Jacob; Sebat, Jonathan; Ruparel, Kosha; Gallagher, Robert; Swillen, Ann; McClellan, Emily; White, Lauren; Crowley, Terrence; Giunta, Victoria; Kushan, Leila; O'Hora, Kathleen; Verbesselt, Jente; Vandensande, Ans; Vingerhoets, Claudia; van Haelst, Mieke; Hall, Jessica; Harwood, Janet; Chawner, Samuel; Patel, Nishi; Palad, Katrina; Hong, Oanh; Guevara, James; Martin, Charles-Olivier; Bélanger, Anne-Marie; Scherer, Stephen; Bassett, Anne; McDonald-McGinn, Donna; Gur, Raquel	December 29, 2023	Not Determined
38229473	Create Study	Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.	Journal of intellectual disability research : JIDR	White, L K; Hillman, N; Ruparel, K; Moore, T M; Gallagher, R S; McClellan, E J; Roalf, D R; Scott, J C; Calkins, M E; McGinn, D E; Giunta, V; Tran, O; Crowley, T B; Zackai, E H; Emanuel, B S; McDonald-McGinn, D M; Gur, R E; Gur, R C	April 1, 2024	Not Determined
38224541	Create Study	Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.	Human brain mapping	Ge, Ruiyang; Ching, Christopher R K; Bassett, Anne S; Kushan, Leila; Antshel, Kevin M; van Amelsvoort, Therese; Bakker, Geor; Butcher, Nancy J; Campbell, Linda E; Chow, Eva W C; Craig, Michael; Crossley, Nicolas A; Cunningham, Adam; Daly, Eileen; Doherty, Joanne L; Durdle, Courtney A; Emanuel, Beverly S; Fiksinski, Ania; Forsyth, Jennifer K; Fremont, Wanda; Goodrich-Hunsaker, Naomi J; Gudbrandsen, Maria; Gur, Raquel E; Jalbrzikowski, Maria; Kates, Wendy R; Lin, Amy; Linden, David E J; McCabe, Kathryn L; McDonald-McGinn, Donna; Moss, Hayley; Murphy, Declan G; Murphy, Kieran C; Owen, Michael J; Villalon-Reina, Julio E; Repetto, Gabriela M; Roalf, David R; Ruparel, Kosha; Schmitt, J Eric; Schuite-Koops, Sanne; Angkustsiri, Kathleen; Sun, Daqiang; Vajdi, Ariana; van den Bree, Marianne; Vorstman, Jacob; Thompson, Paul M; Vila-Rodriguez, Fidel; Bearden, Carrie E	January 1, 2024	Not Determined
38106165	Create Study	Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs).	medRxiv : the preprint server for health sciences	Hall, Jessica H; Chawner, Samuel J R A; IMAGINE-ID consortium; Wolstencroft, Jeanne; Skuse, David; Holmans, Peter; Owen, Michael J; van den Bree, Marianne B M	December 5, 2023	Not Determined
37997544	Create Study	Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.	Autism research : official journal of the International Society for Autism Research	O'Hora, Kathleen P; Kushan-Wells, Leila; Schleifer, Charles H; Cruz, Shayne; Hoftman, Gil D; Jalbrzikowski, Maria; Gur, Raquel E; Gur, Ruben C; Bearden, Carrie E	December 1, 2023	Not Determined
37872602	Create Study	Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.	Orphanet journal of rare diseases	Shin, Woosub; Kutmon, Martina; Mina, Eleni; van Amelsvoort, Therese; Evelo, Chris T; Ehrhart, Friederike	October 24, 2023	Not Determined
37721640	Create Study	Sleep in 22q11.2 Deletion Syndrome: Current Findings, Challenges, and Future Directions.	Current psychiatry reports	O'Hora, Kathleen P; Schleifer, Charles H; Bearden, Carrie E	October 1, 2023	Not Determined
37709253	Create Study	Longitudinal Development of Thalamocortical Functional Connectivity in 22q11.2 Deletion Syndrome.	Biological psychiatry. Cognitive neuroscience and neuroimaging	Schleifer, Charles H; O'Hora, Kathleen P; Jalbrzikowski, Maria; Bondy, Elizabeth; Kushan-Wells, Leila; Lin, Amy; Uddin, Lucina Q; Bearden, Carrie E	February 1, 2024	Not Determined
37661008	Create Study	Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.	Biological psychiatry	Boen, Rune; Kaufmann, Tobias; van der Meer, Dennis; Frei, Oleksandr; Agartz, Ingrid; Ames, David; Andersson, Micael; Armstrong, Nicola J; Artiges, Eric; Atkins, Joshua R; Bauer, Jochen; Benedetti, Francesco; Boomsma, Dorret I; Brodaty, Henry; Brosch, Katharina; Buckner, Randy L; Cairns, Murray J; Calhoun, Vince; Caspers, Svenja; Cichon, Sven; Corvin, Aiden P; Crespo-Facorro, Benedicto; Dannlowski, Udo; David, Friederike S; de Geus, Eco J C; de Zubicaray, Greig I; Desrivières, Sylvane; Doherty, Joanne L; Donohoe, Gary; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fisher, Simon E; Forstner, Andreas J; Fortaner-Uyà, Lidia; Frouin, Vincent; Fukunaga, Masaki; Ge, Tian; Glahn, David C; Goltermann, Janik; Grabe, Hans J; Green, Melissa J; Groenewold, Nynke A; Grotegerd, Dominik; Grøntvedt, Gøril Rolfseng; Hahn, Tim; Hashimoto, Ryota; Hehir-Kwa, Jayne Y; Henskens, Frans A; Holmes, Avram J; Håberg, Asta K; Haavik, Jan; Jacquemont, Sebastien; Jansen, Andreas; Jockwitz, Christiane; Jönsson, Erik G; Kikuchi, Masataka; Kircher, Tilo; Kumar, Kuldeep; Le Hellard, Stephanie; Leu, Costin; Linden, David E; Liu, Jingyu; Loughnan, Robert; Mather, Karen A; McMahon, Katie L; McRae, Allan F; Medland, Sarah E; Meinert, Susanne; Moreau, Clara A; Morris, Derek W; Mowry, Bryan J; Mühleisen, Thomas W; Nenadić, Igor; Nöthen, Markus M; Nyberg, Lars; Ophoff, Roel A; Owen, Michael J; Pantelis, Christos; Paolini, Marco; Paus, Tomas; Pausova, Zdenka; Persson, Karin; Quidé, Yann; Marques, Tiago Reis; Sachdev, Perminder S; Sando, Sigrid B; Schall, Ulrich; Scott, Rodney J; Selbæk, Geir; Shumskaya, Elena; Silva, Ana I; Sisodiya, Sanjay M; Stein, Frederike; Stein, Dan J; Straube, Benjamin; Streit, Fabian; Strike, Lachlan T; Teumer, Alexander; Teutenberg, Lea; Thalamuthu, Anbupalam; Tooney, Paul A; Tordesillas-Gutierrez, Diana; Trollor, Julian N; van 't Ent, Dennis; van den Bree, Marianne B M; van Haren, Neeltje E M; Vázquez-Bourgon, Javier; Völzke, Henry; Wen, Wei; Wittfeld, Katharina; Ching, Christopher R K; Westlye, Lars T; Thompson, Paul M; Bearden, Carrie E; Selmer, Kaja K; Alnæs, Dag; Andreassen, Ole A; Sønderby, Ida E; ENIGMA-CNV Working Group	January 15, 2024	Not Determined
37495890	Create Study	In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome.	Molecular psychiatry	Raven, Erika P; Veraart, Jelle; Kievit, Rogier A; Genc, Sila; Ward, Isobel L; Hall, Jessica; Cunningham, Adam; Doherty, Joanne; van den Bree, Marianne B M; Jones, Derek K	October 1, 2023	Not Determined
37463940	Create Study	Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.	NPJ genomic medicine	Zhao, Yingjie; Wang, Yujue; Shi, Lijie; McDonald-McGinn, Donna M; Crowley, T Blaine; McGinn, Daniel E; Tran, Oanh T; Miller, Daniella; Lin, Jhih-Rong; Zackai, Elaine; Johnston, H Richard; Chow, Eva W C; Vorstman, Jacob A S; Vingerhoets, Claudia; van Amelsvoort, Therese; Gothelf, Doron; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Eliez, Stephan; Schneider, Maude; van den Bree, Marianne B M; Owen, Michael J; Kates, Wendy R; Repetto, Gabriela M; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Angkustsiri, Kathleen; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; Murphy, Kieran C; Murphy, Declan; García-Miñaúr, Sixto; Fernández, Luis; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang, Zhengdong D; Goldmuntz, Elizabeth; Gur, Raquel E; Emanuel, Beverly S; Zheng, Deyou; Marshall, Christian R; Bassett, Anne S; Wang, Tao; Morrow, Bernice E	July 18, 2023	Not Determined
37434504	Create Study	Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants.	The American journal of psychiatry	Kumar, Kuldeep; Modenato, Claudia; Moreau, Clara; Ching, Christopher R K; Harvey, Annabelle; Martin-Brevet, Sandra; Huguet, Guillaume; Jean-Louis, Martineau; Douard, Elise; Martin, Charles-Olivier; Younis, Nadine; Tamer, Petra; Maillard, Anne M; Rodriguez-Herreros, Borja; Pain, Aurélie; 16p11.2 European Consortium, Simons Searchlight Consortium; Kushan, Leila; Isaev, Dmitry; Alpert, Kathryn; Ragothaman, Anjani; Turner, Jessica A; Wang, Lei; Ho, Tiffany C; Schmaal, Lianne; Silva, Ana I; van den Bree, Marianne B M; Linden, David E J; Owen, Michael J; Hall, Jeremy; Lippé, Sarah; Dumas, Guillaume; Draganski, Bogdan; Gutman, Boris A; Sønderby, Ida E; Andreassen, Ole A; Schultz, Laura M; Almasy, Laura; Glahn, David C; Bearden, Carrie E; Thompson, Paul M; Jacquemont, Sébastien	September 1, 2023	Not Determined
37353146	Create Study	The Ethics of Risk Prediction for Psychosis and Suicide Attempt in Youth Mental Health.	The Journal of pediatrics	Smith, William R; Appelbaum, Paul S; Lebowitz, Matthew S; Gülöksüz, Sinan; Calkins, Monica E; Kohler, Christian G; Gur, Raquel E; Barzilay, Ran	December 1, 2023	Not Determined
37221545	Create Study	Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.	Molecular autism	Donnelly, Nicholas; Cunningham, Adam; Salas, Sergio Marco; Bracher-Smith, Matthew; Chawner, Samuel; Stochl, Jan; Ford, Tamsin; Raymond, F Lucy; Escott-Price, Valentina; van den Bree, Marianne B M	May 23, 2023	Not Determined
37131672	Create Study	Using rare genetic mutations to revisit structural brain asymmetry.	bioRxiv : the preprint server for biology	Kopal, Jakub; Kumar, Kuldeep; Shafighi, Kimia; Saltoun, Karin; Modenato, Claudia; Moreau, Clara A; Huguet, Guillaume; Jean-Louis, Martineau; Martin, Charles-Olivier; Saci, Zohra; Younis, Nadine; Douard, Elise; Jizi, Khadije; Beauchamp-Chatel, Alexis; Kushan, Leila; Silva, Ana I; van den Bree, Marianne B M; Linden, David E J; Owen, Michael J; Hall, Jeremy; Lippé, Sarah; Draganski, Bogdan; Sønderby, Ida E; Andreassen, Ole A; Glahn, David C; Thompson, Paul M; Bearden, Carrie E; Zatorre, Robert; Jacquemont, Sébastien; Bzdok, Danilo	April 18, 2023	Not Determined
36987693	Create Study	Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome.	Psychological medicine	Gur, Raquel E; McDonald-McGinn, Donna M; Moore, Tyler M; Gallagher, R Sean; McClellan, Emily; White, Lauren; Ruparel, Kosha; Hillman, Noah; Crowley, T Blaine; McGinn, Daniel E; Zackai, Elaine; Emanuel, Beverly S; Calkins, Monica E; Roalf, David R; Gur, Ruben C	March 29, 2023	Not Determined
36980951	Create Study	Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.	Genes	Verbesselt, Jente; Solot, Cynthia B; Van Den Heuvel, Ellen; Crowley, T Blaine; Giunta, Victoria; Breckpot, Jeroen; McDonald-McGinn, Donna M; Zink, Inge; Swillen, Ann	March 9, 2023	Not Determined
36864136	Create Study	Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.	Nature human behaviour	Kopal, Jakub; Kumar, Kuldeep; Saltoun, Karin; Modenato, Claudia; Moreau, Clara A; Martin-Brevet, Sandra; Huguet, Guillaume; Jean-Louis, Martineau; Martin, Charles-Olivier; Saci, Zohra; Younis, Nadine; Tamer, Petra; Douard, Elise; Maillard, Anne M; Rodriguez-Herreros, Borja; Pain, Aurèlie; Richetin, Sonia; Kushan, Leila; Silva, Ana I; van den Bree, Marianne B M; Linden, David E J; Owen, Michael J; Hall, Jeremy; Lippé, Sarah; Draganski, Bogdan; Sønderby, Ida E; Andreassen, Ole A; Glahn, David C; Thompson, Paul M; Bearden, Carrie E; Jacquemont, Sébastien; Bzdok, Danilo	June 1, 2023	Not Determined
36764568	Create Study	Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.	Biological psychiatry	Mollon, Josephine; Schultz, Laura M; Huguet, Guillaume; Knowles, Emma E M; Mathias, Samuel R; Rodrigue, Amanda; Alexander-Bloch, Aaron; Saci, Zohra; Jean-Louis, Martineau; Kumar, Kuldeep; Douard, Elise; Almasy, Laura; Jacquemont, Sebastien; Glahn, David C	October 1, 2023	Not Determined
36737482	Create Study	The contribution of copy number variants to psychiatric symptoms and cognitive ability.	Molecular psychiatry	Mollon, Josephine; Almasy, Laura; Jacquemont, Sebastien; Glahn, David C	April 1, 2023	Not Determined
36672911	Create Study	Gathering the Stakeholder''s Perspective: Experiences and Opportunities in Rare Genetic Disease Research.	Genes	White, Lauren K; Crowley, T Blaine; Finucane, Brenda; McClellan, Emily J; Donoghue, Sarah; Garcia-Minaur, Sixto; Repetto, Gabriela M; Fischer, Matthias; Jacquemont, Sebastien; Gur, Raquel E; Maillard, Anne M; Donald, Kirsten A; Bassett, Anne S; Swillen, Ann; McDonald-McGinn, Donna M	January 7, 2023	Not Determined
36631438	Create Study	Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions.	Translational psychiatry	Chawner, Samuel J R A; Evans, Alexandra; IMAGINE-ID consortium; Williams, Nigel; Owen, Michael J; Hall, Jeremy; van den Bree, Marianne B M	January 11, 2023	Not Determined
36372570	Create Study	Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry.	Biological psychiatry	Moreau, Clara A; Harvey, Annabelle; Kumar, Kuldeep; Huguet, Guillaume; Urchs, Sebastian G W; Douard, Elise A; Schultz, Laura M; Sharmarke, Hanad; Jizi, Khadije; Martin, Charles-Olivier; Younis, Nadine; Tamer, Petra; Rolland, Thomas; Martineau, Jean-Louis; Orban, Pierre; Silva, Ana Isabel; Hall, Jeremy; van den Bree, Marianne B M; Owen, Michael J; Linden, David E J; Labbe, Aurelie; Lippé, Sarah; Bearden, Carrie E; Almasy, Laura; Glahn, David C; Thompson, Paul M; Bourgeron, Thomas; Bellec, Pierre; Jacquemont, Sebastien	January 1, 2023	Not Determined
36368308	Create Study	Genomic architecture of autism from comprehensive whole-genome sequence annotation.	Cell	Trost, Brett; Thiruvahindrapuram, Bhooma; Chan, Ada J S; Engchuan, Worrawat; Higginbotham, Edward J; Howe, Jennifer L; Loureiro, Livia O; Reuter, Miriam S; Roshandel, Delnaz; Whitney, Joe; Zarrei, Mehdi; Bookman, Matthew; Somerville, Cherith; Shaath, Rulan; Abdi, Mona; Aliyev, Elbay; Patel, Rohan V; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Hamdan, Omar; Kaur, Gaganjot; Wang, Zhuozhi; MacDonald, Jeffrey R; Wei, John; Sung, Wilson W L; Lamoureux, Sylvia; Hoang, Ny; Selvanayagam, Thanuja; Deflaux, Nicole; Geng, Melissa; Ghaffari, Siavash; Bates, John; Young, Edwin J; Ding, Qiliang; Shum, Carole; D'Abate, Lia; Bradley, Clarrisa A; Rutherford, Annabel; Aguda, Vernie; Apresto, Beverly; Chen, Nan; Desai, Sachin; Du, Xiaoyan; Fong, Matthew L Y; Pullenayegum, Sanjeev; Samler, Kozue; Wang, Ting; Ho, Karen; Paton, Tara; Pereira, Sergio L; Herbrick, Jo-Anne; Wintle, Richard F; Fuerth, Jonathan; Noppornpitak, Juti; Ward, Heather; Magee, Patrick; Al Baz, Ayman; Kajendirarajah, Usanthan; Kapadia, Sharvari; Vlasblom, Jim; Valluri, Monica; Green, Joseph; Seifer, Vicki; Quirbach, Morgan; Rennie, Olivia; Kelley, Elizabeth; Masjedi, Nina; Lord, Catherine; Szego, Michael J; Zawati, Ma'n H; Lang, Michael; Strug, Lisa J; Marshall, Christian R; Costain, Gregory; Calli, Kristina; Iaboni, Alana; Yusuf, Afiqah; Ambrozewicz, Patricia; Gallagher, Louise; Amaral, David G; Brian, Jessica; Elsabbagh, Mayada; Georgiades, Stelios; Messinger, Daniel S; Ozonoff, Sally; Sebat, Jonathan; Sjaarda, Calvin; Smith, Isabel M; Szatmari, Peter; Zwaigenbaum, Lonnie; Kushki, Azadeh; Frazier, Thomas W; Vorstman, Jacob A S; Fakhro, Khalid A; Fernandez, Bridget A; Lewis, M E Suzanne; Weksberg, Rosanna; Fiume, Marc; Yuen, Ryan K C; Anagnostou, Evdokia; Sondheimer, Neal; Glazer, David; Hartley, Dean M; Scherer, Stephen W	November 10, 2022	Not Determined
36360240	Create Study	Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review.	Genes	Snihirova, Yelyzaveta; Linden, David E J; van Amelsvoort, Therese; van der Meer, Dennis	November 2, 2022	Not Determined
36303073	Create Study	Rare and common autism risk variants converge across 16p.	Nature genetics	Won, Hyejung; Huguet, Guillaume; Jacquemont, Sébastien	October 27, 2022	Not Determined
36292686	Create Study	Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings.	Genes	Verbesselt, Jente; Van Den Heuvel, Ellen; Breckpot, Jeroen; Zink, Inge; Swillen, Ann	October 6, 2022	Not Determined
36292685	Create Study	Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.	Genes	McGinn, Daniel E; Crowley, T Blaine; Heung, Tracy; Tran, Oanh; Moss, Edward; Zackai, Elaine H; Emanuel, Beverly S; Chow, Eva W C; Morrow, Bernice E; Swillen, Ann; Bassett, Anne S; McDonald-McGinn, Donna M	October 5, 2022	Not Determined
36192458	Create Study	A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome.	Molecular psychiatry	Fiksinski, Ania M; Hoftman, Gil D; Vorstman, Jacob A S; Bearden, Carrie E	January 1, 2023	Not Determined
36140839	Create Study	The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome: A Cross-Sectional, Multimodal 1H-MRS and 18F-Fallypride PET Study.	Genes	van Hooijdonk, Carmen F M; Tse, Desmond H Y; Roosenschoon, Julia; Ceccarini, Jenny; Booij, Jan; van Amelsvoort, Therese A M J; Vingerhoets, Claudia	September 19, 2022	Not Determined
36131047	Create Study	Rare copy number variation in posttraumatic stress disorder.	Molecular psychiatry	Maihofer, Adam X; Engchuan, Worrawat; Huguet, Guillaume; Klein, Marieke; MacDonald, Jeffrey R; Shanta, Omar; Thiruvahindrapuram, Bhooma; Jean-Louis, Martineau; Saci, Zohra; Jacquemont, Sebastien; Scherer, Stephen W; Ketema, Elizabeth; Aiello, Allison E; Amstadter, Ananda B; Avdibegović, Esmina; Babic, Dragan; Baker, Dewleen G; Bisson, Jonathan I; Boks, Marco P; Bolger, Elizabeth A; Bryant, Richard A; Bustamante, Angela C; Caldas-de-Almeida, Jose Miguel; Cardoso, Graça; Deckert, Jurgen; Delahanty, Douglas L; Domschke, Katharina; Dunlop, Boadie W; Dzubur-Kulenovic, Alma; Evans, Alexandra; Feeny, Norah C; Franz, Carol E; Gautam, Aarti; Geuze, Elbert; Goci, Aferdita; Hammamieh, Rasha; Jakovljevic, Miro; Jett, Marti; Jones, Ian; Kaufman, Milissa L; Kessler, Ronald C; King, Anthony P; Kremen, William S; Lawford, Bruce R; Lebois, Lauren A M; Lewis, Catrin; Liberzon, Israel; Linnstaedt, Sarah D; Lugonja, Bozo; Luykx, Jurjen J; Lyons, Michael J; Mavissakalian, Matig R; McLaughlin, Katie A; McLean, Samuel A; Mehta, Divya; Mellor, Rebecca; Morris, Charles Phillip; Muhie, Seid; Orcutt, Holly K; Peverill, Matthew; Ratanatharathorn, Andrew; Risbrough, Victoria B; Rizzo, Albert; Roberts, Andrea L; Rothbaum, Alex O; Rothbaum, Barbara O; Roy-Byrne, Peter; Ruggiero, Kenneth J; Rutten, Bart P F; Schijven, Dick; Seng, Julia S; Sheerin, Christina M; Sorenson, Michael A; Teicher, Martin H; Uddin, Monica; Ursano, Robert J; Vinkers, Christiaan H; Voisey, Joanne; Weber, Heike; Winternitz, Sherry; Xavier, Miguel; Yang, Ruoting; McD Young, Ross; Zoellner, Lori A; Psychiatric Genomics Consortium PTSD Working Group; Psychiatric Genomics Consortium CNV Working Group; Salem, Rany M; Shaffer, Richard A; Wu, Tianying; Ressler, Kerry J; Stein, Murray B; Koenen, Karestan C; Sebat, Jonathan; Nievergelt, Caroline M	December 1, 2022	Not Determined
36075864	Create Study	Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.	Clinical genetics	Campbell, Ian M; Crowley, T Blaine; Jobaliya, Chintan; Bailey, Alice; McGinn, Daniel E; Gaiser, Kimberly; Bassett, Anne; Gur, Raquel E; Morrow, Bernice; Emanuel, Beverly S; Franco, Aime T; French, Deborah; Zackai, Elaine H; McDonald-McGinn, Donna M; Lambert, Michele P	January 1, 2023	Not Determined
36059063	Create Study	Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions.	Brain : a journal of neurology	Moreau, Clara A; Kumar, Kuldeep; Harvey, Annabelle; Huguet, Guillaume; Urchs, Sebastian G W; Schultz, Laura M; Sharmarke, Hanad; Jizi, Khadije; Martin, Charles-Olivier; Younis, Nadine; Tamer, Petra; Martineau, Jean-Louis; Orban, Pierre; Silva, Ana Isabel; Hall, Jeremy; van den Bree, Marianne B M; Owen, Michael J; Linden, David E J; Lippé, Sarah; Bearden, Carrie E; Almasy, Laura; Glahn, David C; Thompson, Paul M; Bourgeron, Thomas; Bellec, Pierre; Jacquemont, Sebastien	April 19, 2023	Not Determined
36000218	Create Study	Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.	The American journal of psychiatry	Brownstein, Catherine A; Douard, Elise; Mollon, Josephine; Smith, Richard; Hojlo, Margaret A; Das, Ananth; Goldman, Maria; Garvey, Emily; Cabral, Kristin; Li, Jianqiao; Bowen, Joshua; Rao, Abhijit S; Genetti, Casie; Carroll, Devon; Knowles, Emma E M; Deaso, Emma; Agrawal, Pankaj B; Beggs, Alan H; D'Angelo, Eugene; Almasy, Laura; Alexander-Bloch, Aaron; Saci, Zohra; Moreau, Clara A; Huguet, Guillaume; Deo, Anthony J; Jacquemont, Sébastien; Glahn, David C; Gonzalez-Heydrich, Joseph	November 1, 2022	Not Determined
35948562	Create Study	Local molecular and global connectomic contributions to cross-disorder cortical abnormalities.	Nature communications	Hansen, Justine Y; Shafiei, Golia; Vogel, Jacob W; Smart, Kelly; Bearden, Carrie E; Hoogman, Martine; Franke, Barbara; van Rooij, Daan; Buitelaar, Jan; McDonald, Carrie R; Sisodiya, Sanjay M; Schmaal, Lianne; Veltman, Dick J; van den Heuvel, Odile A; Stein, Dan J; van Erp, Theo G M; Ching, Christopher R K; Andreassen, Ole A; Hajek, Tomas; Opel, Nils; Modinos, Gemma; Aleman, André; van der Werf, Ysbrand; Jahanshad, Neda; Thomopoulos, Sophia I; Thompson, Paul M; Carson, Richard E; Dagher, Alain; Misic, Bratislav	August 10, 2022	Not Determined
35767289	Create Study	Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review.	JAMA psychiatry	Raznahan, Armin; Won, Hyejung; Glahn, David C; Jacquemont, Sébastien	August 1, 2022	Not Determined
35654974	Create Study	A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.	Nature genetics	Antaki, Danny; Guevara, James; Maihofer, Adam X; Klein, Marieke; Gujral, Madhusudan; Grove, Jakob; Carey, Caitlin E; Hong, Oanh; Arranz, Maria J; Hervas, Amaia; Corsello, Christina; Vaux, Keith K; Muotri, Alysson R; Iakoucheva, Lilia M; Courchesne, Eric; Pierce, Karen; Gleeson, Joseph G; Robinson, Elise B; Nievergelt, Caroline M; Sebat, Jonathan	September 1, 2022	Not Determined
35641891	Create Study	Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.	Journal of pediatric gastroenterology and nutrition	Kotcher, Rebecca E; Chait, Daniel B; Heckert, Jason M; Crowley, T Blaine; Forde, Kimberly A; Ahuja, Nitin K; Mascarenhas, Maria R; Emanuel, Beverly S; Zackai, Elaine H; McDonald-McGinn, Donna M; Reynolds, James C	August 1, 2022	Not Determined
35544191	Create Study	Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort.	JAMA psychiatry	Alexander-Bloch, Aaron; Huguet, Guillaume; Schultz, Laura M; Huffnagle, Nicholas; Jacquemont, Sebastien; Seidlitz, Jakob; Saci, Zohra; Moore, Tyler M; Bethlehem, Richard A I; Mollon, Josephine; Knowles, Emma K; Raznahan, Armin; Merikangas, Alison; Chaiyachati, Barbara H; Raman, Harshini; Schmitt, J Eric; Barzilay, Ran; Calkins, Monica E; Shinohara, Russel T; Satterthwaite, Theodore D; Gur, Ruben C; Glahn, David C; Almasy, Laura; Gur, Raquel E; Hakonarson, Hakon; Glessner, Joseph	July 1, 2022	Not Determined
35344402	Create Study	Family studies in the age of big data.	Proceedings of the National Academy of Sciences of the United States of America	Almasy, Laura	April 12, 2022	Not Determined
35236119	Create Study	Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.	The American journal of psychiatry	Jacquemont, Sébastien; Huguet, Guillaume; Klein, Marieke; Chawner, Samuel J R A; Donald, Kirsten A; van den Bree, Marianne B M; Sebat, Jonathan; Ledbetter, David H; Constantino, John N; Earl, Rachel K; McDonald-McGinn, Donna M; van Amelsvoort, Therese; Swillen, Ann; O'Donnell-Luria, Anne H; Glahn, David C; Almasy, Laura; Eichler, Evan E; Scherer, Stephen W; Robinson, Elise; Bassett, Anne S; Martin, Christa Lese; Finucane, Brenda; Vorstman, Jacob A S; Bearden, Carrie E; Gur, Raquel E; Genes to Mental Health Network	March 1, 2022	Not Determined
35199043	Create Study	Stability of polygenic scores across discovery genome-wide association studies.	HGG advances	Schultz, Laura M; Merikangas, Alison K; Ruparel, Kosha; Jacquemont, Sébastien; Glahn, David C; Gur, Raquel E; Barzilay, Ran; Almasy, Laura	April 14, 2022	Not Determined
35191118	Create Study	The COVID-19 pandemic''s impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.	Journal of intellectual disability research : JIDR	White, L K; Crowley, T B; Finucane, B; Garcia-Minaur, S; Repetto, G M; van den Bree, M; Fischer, M; Jacquemont, S; Barzilay, R; Maillard, A M; Donald, K A; Gur, R E; Bassett, A S; Swillen, A; McDonald-McGinn, D M	April 1, 2022	Not Determined
35119167	Create Study	Cross disorder comparisons of brain structure in schizophrenia, bipolar disorder, major depressive disorder, and 22q11.2 deletion syndrome: A review of ENIGMA findings.	Psychiatry and clinical neurosciences	Cheon, Eun-Jin; Bearden, Carrie E; Sun, Daqiang; Ching, Christopher R K; Andreassen, Ole A; Schmaal, Lianne; Veltman, Dick J; Thomopoulos, Sophia I; Kochunov, Peter; Jahanshad, Neda; Thompson, Paul M; Turner, Jessica A; van Erp, Theo G M	May 1, 2022	Not Determined
34851367	Create Study	Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders.	JAMA psychiatry	Wainberg, Michael; Merico, Daniele; Huguet, Guillaume; Zarrei, Mehdi; Jacquemont, Sebastien; Scherer, Stephen W; Tripathy, Shreejoy J	January 1, 2022	Not Determined
34841284	Create Study	Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression.	Brain, behavior, & immunity - health	Lin, Amy; Forsyth, Jennifer K; Hoftman, Gil D; Kushan-Wells, Leila; Jalbrzikowski, Maria; Dokuru, Deepika; Coppola, Giovanni; Fiksinski, Ania; Zinkstok, Janneke; Vorstman, Jacob; Nachun, Daniel; Bearden, Carrie E	December 1, 2021	Not Determined
34759270	Create Study	Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers.	Translational psychiatry	Seitz-Holland, Johanna; Lyons, Monica; Kushan, Leila; Lin, Amy; Villalon-Reina, Julio E; Cho, Kang Ik Kevin; Zhang, Fan; Billah, Tashrif; Bouix, Sylvain; Kubicki, Marek; Bearden, Carrie E; Pasternak, Ofer	November 10, 2021	Not Determined
34686764	Create Study	Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing.	Molecular psychiatry	Cornblath, Eli J; Mahadevan, Arun; He, Xiaosong; Ruparel, Kosha; Lydon-Staley, David M; Moore, Tyler M; Gur, Ruben C; Zackai, Elaine H; Emanuel, Beverly; McDonald-McGinn, Donna M; Wolf, Daniel H; Satterthwaite, Theodore D; Roalf, David R; Gur, Raquel E; Bassett, Dani S	February 1, 2022	Not Determined
34620586	Create Study	Heterotopia in Individuals with 22q11.2 Deletion Syndrome.	AJNR. American journal of neuroradiology	Neuhaus, E; Hattingen, E; Breuer, S; Steidl, E; Polomac, N; Rosenow, F; Rüber, T; Herrmann, E; Ecker, C; Kushan, L; Lin, A; Vajdi, A; Bearden, C E; Jurcoane, A	November 1, 2021	Not Determined
34509290	Create Study	Lessons Learned From Neuroimaging Studies of Copy Number Variants: A Systematic Review.	Biological psychiatry	Modenato, Claudia; Martin-Brevet, Sandra; Moreau, Clara A; Rodriguez-Herreros, Borja; Kumar, Kuldeep; Draganski, Bogdan; Sønderby, Ida E; Jacquemont, Sébastien	November 1, 2021	Not Determined
34491614	Create Study	Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.	American journal of medical genetics. Part A	Verbesselt, Jente; Zink, Inge; Breckpot, Jeroen; Swillen, Ann	January 1, 2022	Not Determined
34433918	Create Study	Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.	Molecular psychiatry	Urresti, Jorge; Zhang, Pan; Moran-Losada, Patricia; Yu, Nam-Kyung; Negraes, Priscilla D; Trujillo, Cleber A; Antaki, Danny; Amar, Megha; Chau, Kevin; Pramod, Akula Bala; Diedrich, Jolene; Tejwani, Leon; Romero, Sarah; Sebat, Jonathan; Yates Iii, John R; Muotri, Alysson R; Iakoucheva, Lilia M	December 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
34285187	Create Study	Effects of eight neuropsychiatric copy number variants on human brain structure.	Translational psychiatry	Modenato, Claudia; Kumar, Kuldeep; Moreau, Clara; Martin-Brevet, Sandra; Huguet, Guillaume; Schramm, Catherine; Jean-Louis, Martineau; Martin, Charles-Olivier; Younis, Nadine; Tamer, Petra; Douard, Elise; Thébault-Dagher, Fanny; Côté, Valérie; Charlebois, Audrey-Rose; Deguire, Florence; Maillard, Anne M; Rodriguez-Herreros, Borja; Pain, Aurèlie; Richetin, Sonia; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia, Lester; Kushan, Leila; Silva, Ana I; van den Bree, Marianne B M; Linden, David E J; Owen, Michael J; Hall, Jeremy; Lippé, Sarah; Chakravarty, Mallar; Bzdok, Danilo; Bearden, Carrie E; Draganski, Bogdan; Jacquemont, Sébastien	July 20, 2021	Not Determined
34213087	Create Study	Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome.	Brain and behavior	Gur, Ruben C; Moore, Tyler M; Weinberger, Ronnie; Mekori-Domachevsky, Ehud; Gross, Raz; Emanuel, Beverly S; Zackai, Elaine H; Moss, Edward; Gallagher, Robert Sean; McGinn, Daniel E; Crowley, Terrence Blaine; McDonald-McGinn, Donna; Gothelf, Doron; Gur, Raquel E	August 1, 2021	Not Determined
34126928	Create Study	Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome.	Journal of neurodevelopmental disorders	Moore, Tyler M; Salzer, Deby; Bearden, Carrie E; Calkins, Monica E; Kates, Wendy R; Kushan, Leila; Gallagher, Robert Sean; Frumer, Dafna Sofrin; Weinberger, Ronnie; McDonald-McGinn, Donna M; Gur, Raquel E; Gothelf, Doron	June 14, 2021	Not Determined
34115224	Create Study	Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient''s perspective.	European child & adolescent psychiatry	Van de Woestyne, Kris; Vandensande, Ans; Vansteelandt, Kristof; Maes, Bea; Vergaelen, Elfi; Swillen, Ann	December 1, 2022	Not Determined
33894539	Create Study	A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome.	Journal of psychiatric research	Gur, Raquel E; White, Lauren K; Shani, Shachar; Barzilay, Ran; Moore, Tyler M; Emanuel, Beverly S; Zackai, Elaine H; McDonald-McGinn, Donna M; Matalon, Noam; Weinberger, Ronnie; Gur, Ruben C; Gothelf, Doron	June 1, 2021	Not Determined
33876226	Create Study	Disruption of the blood-brain barrier in 22q11.2 deletion syndrome.	Brain : a journal of neurology	Crockett, Alexis M; Ryan, Sean K; Vásquez, Adriana Hernandez; Canning, Caroline; Kanyuch, Nickole; Kebir, Hania; Ceja, Guadalupe; Gesualdi, James; Zackai, Elaine; McDonald-McGinn, Donna; Viaene, Angela; Kapoor, Richa; Benallegue, Naïl; Gur, Raquel; Anderson, Stewart A; Alvarez, Jorge I	June 22, 2021	Not Determined
33812299	Create Study	Structural and functional brain alterations revealed by neuroimaging in CNV carriers.	Current opinion in genetics & development	Moreau, Clara A; Ching, Christopher Rk; Kumar, Kuldeep; Jacquemont, Sebastien; Bearden, Carrie E	June 1, 2021	Not Determined
33782512	Create Study	A normative chart for cognitive development in a genetically selected population.	Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology	Fiksinski, Ania M; Bearden, Carrie E; Bassett, Anne S; Kahn, René S; Zinkstok, Janneke R; Hooper, Stephen R; Tempelaar, Wanda; McDonald-McGinn, Donna; Swillen, Ann; Emanuel, Beverly; Morrow, Bernice; Gur, Raquel; Chow, Eva; van den Bree, Marianne; Vermeesch, Joris; Warren, Stephen; Owen, Michael; van Amelsvoort, Therese; Eliez, Stephan; Gothelf, Doron; Arango, Celso; Kates, Wendy; Simon, Tony; Murphy, Kieran; Repetto, Gabriela; Suner, Damian Heine; Vicari, Stefano; Cubells, Joseph; Armando, Marco; Philip, Nicole; Campbell, Linda; Garcia-Minaur, Sixto; Schneider, Maude; Shashi, Vandana; 22q11DS International Consortium on Brain and Behavior; Vorstman, Jacob; Breetvelt, Elemi J	June 1, 2022	Not Determined
33727673	Create Study	Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling.	Molecular psychiatry	Amar, Megha; Pramod, Akula Bala; Yu, Nam-Kyung; Herrera, Victor Munive; Qiu, Lily R; Moran-Losada, Patricia; Zhang, Pan; Trujillo, Cleber A; Ellegood, Jacob; Urresti, Jorge; Chau, Kevin; Diedrich, Jolene; Chen, Jiaye; Gutierrez, Jessica; Sebat, Jonathan; Ramanathan, Dhakshin; Lerch, Jason P; Yates 3rd, John R; Muotri, Alysson R; Iakoucheva, Lilia M	July 1, 2021	Not Determined
33638978	Create Study	Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics.	Cerebral cortex (New York, N.Y. : 1991)	Forsyth, Jennifer K; Mennigen, Eva; Lin, Amy; Sun, Daqiang; Vajdi, Ariana; Kushan-Wells, Leila; Ching, Christopher R K; Villalon-Reina, Julio E; Thompson, Paul M; 22q11.2 ENIGMA Consortium; Bearden, Carrie E	June 10, 2021	Not Determined
33615640	Create Study	Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.	Human brain mapping	Sønderby, Ida E; Ching, Christopher R K; Thomopoulos, Sophia I; van der Meer, Dennis; Sun, Daqiang; Villalon-Reina, Julio E; Agartz, Ingrid; Amunts, Katrin; Arango, Celso; Armstrong, Nicola J; Ayesa-Arriola, Rosa; Bakker, Geor; Bassett, Anne S; Boomsma, Dorret I; Bülow, Robin; Butcher, Nancy J; Calhoun, Vince D; Caspers, Svenja; Chow, Eva W C; Cichon, Sven; Ciufolini, Simone; Craig, Michael C; Crespo-Facorro, Benedicto; Cunningham, Adam C; Dale, Anders M; Dazzan, Paola; de Zubicaray, Greig I; Djurovic, Srdjan; Doherty, Joanne L; Donohoe, Gary; Draganski, Bogdan; Durdle, Courtney A; Ehrlich, Stefan; Emanuel, Beverly S; Espeseth, Thomas; Fisher, Simon E; Ge, Tian; Glahn, David C; Grabe, Hans J; Gur, Raquel E; Gutman, Boris A; Haavik, Jan; Håberg, Asta K; Hansen, Laura A; Hashimoto, Ryota; Hibar, Derrek P; Holmes, Avram J; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Jalbrzikowski, Maria; Knowles, Emma E M; Kushan, Leila; Linden, David E J; Liu, Jingyu; Lundervold, Astri J; Martin-Brevet, Sandra; Martínez, Kenia; Mather, Karen A; Mathias, Samuel R; McDonald-McGinn, Donna M; McRae, Allan F; Medland, Sarah E; Moberget, Torgeir; Modenato, Claudia; Monereo Sánchez, Jennifer; Moreau, Clara A; Mühleisen, Thomas W; Paus, Tomas; Pausova, Zdenka; Prieto, Carlos; Ragothaman, Anjanibhargavi; Reinbold, Céline S; Reis Marques, Tiago; Repetto, Gabriela M; Reymond, Alexandre; Roalf, David R; Rodriguez-Herreros, Borja; Rucker, James J; Sachdev, Perminder S; Schmitt, James E; Schofield, Peter R; Silva, Ana I; Stefansson, Hreinn; Stein, Dan J; Tamnes, Christian K; Tordesillas-Gutiérrez, Diana; Ulfarsson, Magnus O; Vajdi, Ariana; van 't Ent, Dennis; van den Bree, Marianne B M; Vassos, Evangelos; Vázquez-Bourgon, Javier; Vila-Rodriguez, Fidel; Walters, G Bragi; Wen, Wei; Westlye, Lars T; Wittfeld, Katharina; Zackai, Elaine H; Stefánsson, Kári; Jacquemont, Sebastien; Thompson, Paul M; Bearden, Carrie E; Andreassen, Ole A; ENIGMA-CNV Working Group; ENIGMA 22q11.2 Deletion Syndrome Working Group	January 1, 2022	Not Determined
33571729	Create Study	Pathways to understanding psychosis through rare - 22q11.2DS - and common variants.	Current opinion in genetics & development	Gur, Raquel E; Roalf, David R; Alexander-Bloch, Aaron; McDonald-McGinn, Donna M; Gur, Ruben C	June 1, 2021	Not Determined
33414497	Create Study	Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.	Molecular psychiatry	Huguet, Guillaume; Schramm, Catherine; Douard, Elise; Tamer, Petra; Main, Antoine; Monin, Pauline; England, Jade; Jizi, Khadije; Renne, Thomas; Poirier, Myriam; Nowak, Sabrina; Martin, Charles-Olivier; Younis, Nadine; Knoth, Inga Sophia; Jean-Louis, Martineau; Saci, Zohra; Auger, Maude; Tihy, Frédérique; Mathonnet, Géraldine; Maftei, Catalina; Léveillé, France; Porteous, David; Davies, Gail; Redmond, Paul; Harris, Sarah E; Hill, W David; Lemyre, Emmanuelle; Schumann, Gunter; Bourgeron, Thomas; Pausova, Zdenka; Paus, Tomas; Karama, Sherif; Lippe, Sarah; Deary, Ian J; Almasy, Laura; Labbe, Aurélie; Glahn, David; Greenwood, Celia M T; Jacquemont, Sébastien	June 1, 2021	Not Determined
33384013	Create Study	A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.	The American journal of psychiatry	Chawner, Samuel J R A; Doherty, Joanne L; Anney, Richard J L; Antshel, Kevin M; Bearden, Carrie E; Bernier, Raphael; Chung, Wendy K; Clements, Caitlin C; Curran, Sarah R; Cuturilo, Goran; Fiksinski, Ania M; Gallagher, Louise; Goin-Kochel, Robin P; Gur, Raquel E; Hanson, Ellen; Jacquemont, Sebastien; Kates, Wendy R; Kushan, Leila; Maillard, Anne M; McDonald-McGinn, Donna M; Mihaljevic, Marina; Miller, Judith S; Moss, Hayley; Pejovic-Milovancevic, Milica; Schultz, Robert T; Green-Snyder, LeeAnne; Vorstman, Jacob A; Wenger, Tara L; IMAGINE-ID Consortium; Hall, Jeremy; Owen, Michael J; van den Bree, Marianne B M	January 1, 2021	Not Determined
33187471	Create Study	Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method.	Journal of neurodevelopmental disorders	Schneider, Maude; Vaessen, Thomas; van Duin, Esther D A; Kasanova, Zuzana; Viechtbauer, Wolfgang; Reininghaus, Ulrich; Vingerhoets, Claudia; Booij, Jan; Swillen, Ann; Vorstman, Jacob A S; van Amelsvoort, Thérèse; Myin-Germeys, Inez	November 13, 2020	Not Determined
33169016	Create Study	Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.	Nature medicine	Davies, Robert W; Fiksinski, Ania M; Breetvelt, Elemi J; Williams, Nigel M; Hooper, Stephen R; Monfeuga, Thomas; Bassett, Anne S; Owen, Michael J; Gur, Raquel E; Morrow, Bernice E; McDonald-McGinn, Donna M; Swillen, Ann; Chow, Eva W C; van den Bree, Marianne; Emanuel, Beverly S; Vermeesch, Joris R; van Amelsvoort, Therese; Arango, Celso; Armando, Marco; Campbell, Linda E; Cubells, Joseph F; Eliez, Stephan; Garcia-Minaur, Sixto; Gothelf, Doron; Kates, Wendy R; Murphy, Kieran C; Murphy, Clodagh M; Murphy, Declan G; Philip, Nicole; Repetto, Gabriela M; Shashi, Vandana; Simon, Tony J; Suñer, Damiàn Heine; Vicari, Stefano; Scherer, Stephen W; International 22q11.2 Brain and Behavior Consortium; Bearden, Carrie E; Vorstman, Jacob A S	December 1, 2020	Not Determined
32911998	Create Study	Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.	The American journal of psychiatry	Douard, Elise; Zeribi, Abderrahim; Schramm, Catherine; Tamer, Petra; Loum, Mor Absa; Nowak, Sabrina; Saci, Zohra; Lord, Marie-Pier; Rodríguez-Herreros, Borja; Jean-Louis, Martineau; Moreau, Clara; Loth, Eva; Schumann, Gunter; Pausova, Zdenka; Elsabbagh, Mayada; Almasy, Laura; Glahn, David C; Bourgeron, Thomas; Labbe, Aurélie; Paus, Tomas; Mottron, Laurent; Greenwood, Celia M T; Huguet, Guillaume; Jacquemont, Sébastien	January 1, 2021	Not Determined
32715620	Create Study	Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.	American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics	Solot, Cynthia B; Moore, Tyler M; Crowley, Terrence Blaine; Gerdes, Marsha; Moss, Edward; McGinn, Daniel E; Emanuel, Beverly S; Zackai, Elaine H; Gallagher, Sean; Calkins, Monica E; Ruparel, Kosha; Gur, Ruben C; McDonald-McGinn, Donna M; Gur, Raquel E	September 1, 2020	Not Determined
32359473	Create Study	Insufficient Evidence for "Autism-Specific" Genes.	American journal of human genetics	Myers, Scott M; Challman, Thomas D; Bernier, Raphael; Bourgeron, Thomas; Chung, Wendy K; Constantino, John N; Eichler, Evan E; Jacquemont, Sebastien; Miller, David T; Mitchell, Kevin J; Zoghbi, Huda Y; Martin, Christa Lese; Ledbetter, David H	May 7, 2020	Not Determined
32348611	Create Study	Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders.	Genes, brain, and behavior	Merikangas, Alison K; Almasy, Laura	July 1, 2020	Not Determined
32327654	Create Study	22q11.2 deletion - a tiny piece leading to a big picture.	Nature reviews. Disease primers	McDonald-McGinn, Donna M	April 23, 2020	Not Determined
32317787	Create Study	A framework for an evidence-based gene list relevant to autism spectrum disorder.	Nature reviews. Genetics	Schaaf, Christian P; Betancur, Catalina; Yuen, Ryan K C; Parr, Jeremy R; Skuse, David H; Gallagher, Louise; Bernier, Raphael A; Buchanan, Janet A; Buxbaum, Joseph D; Chen, Chun-An; Dies, Kira A; Elsabbagh, Mayada; Firth, Helen V; Frazier, Thomas; Hoang, Ny; Howe, Jennifer; Marshall, Christian R; Michaud, Jacques L; Rennie, Olivia; Szatmari, Peter; Chung, Wendy K; Bolton, Patrick F; Cook, Edwin H; Scherer, Stephen W; Vorstman, Jacob A S	June 1, 2020	Not Determined
32301246	Create Study	ENIGMA-DTI: Translating reproducible white matter deficits into personalized vulnerability metrics in cross-diagnostic psychiatric research.	Human brain mapping	Kochunov, Peter; Hong, L Elliot; Dennis, Emily L; Morey, Rajendra A; Tate, David F; Wilde, Elisabeth A; Logue, Mark; Kelly, Sinead; Donohoe, Gary; Favre, Pauline; Houenou, Josselin; Ching, Christopher R K; Holleran, Laurena; Andreassen, Ole A; van Velzen, Laura S; Schmaal, Lianne; Villalón-Reina, Julio E; Bearden, Carrie E; Piras, Fabrizio; Spalletta, Gianfranco; van den Heuvel, Odile A; Veltman, Dick J; Stein, Dan J; Ryan, Meghann C; Tan, Yunlong; van Erp, Theo G M; Turner, Jessica A; Haddad, Liz; Nir, Talia M; Glahn, David C; Thompson, Paul M; Jahanshad, Neda	January 1, 2022	Not Determined
31553903	Create Study	Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.	Cell reports	Qiu, Yuqi; Arbogast, Thomas; Lorenzo, Sandra Martin; Li, Hongying; Tang, Shih C; Richardson, Ellen; Hong, Oanh; Cho, Shawn; Shanta, Omar; Pang, Timothy; Corsello, Christina; Deutsch, Curtis K; Chevalier, Claire; Davis, Erica E; Iakoucheva, Lilia M; Herault, Yann; Katsanis, Nicholas; Messer, Karen; Sebat, Jonathan	September 24, 2019	Not Determined
31491383	Create Study	Getting to the Cores of Autism.	Cell	Iakoucheva, Lilia M; Muotri, Alysson R; Sebat, Jonathan	September 5, 2019	Not Determined
31474763	Create Study	Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.	Genetics in medicine : official journal of the American College of Medical Genetics	Unolt, Marta; Kammoun, Molka; Nowakowska, Beata; Graham, Gail E; Crowley, T Blaine; Hestand, Matthew S; Demaerel, Wolfram; Geremek, Maciej; Emanuel, Beverly S; Zackai, Elaine H; Vermeesch, Joris R; McDonald-McGinn, Donna	February 1, 2020	Not Determined
31358905	Create Study	Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.	Molecular psychiatry	Villalón-Reina, Julio E; Martínez, Kenia; Qu, Xiaoping; Ching, Christopher R K; Nir, Talia M; Kothapalli, Deydeep; Corbin, Conor; Sun, Daqiang; Lin, Amy; Forsyth, Jennifer K; Kushan, Leila; Vajdi, Ariana; Jalbrzikowski, Maria; Hansen, Laura; Jonas, Rachel K; van Amelsvoort, Therese; Bakker, Geor; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; Campbell, Linda E; McCabe, Kathryn L; Daly, Eileen; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan; Craig, Michael; Emanuel, Beverly; McDonald-McGinn, Donna M; Vorstman, Jacob A S; Fiksinski, Ania M; Koops, Sanne; Ruparel, Kosha; Roalf, David; Gur, Raquel E; Eric Schmitt, J; Simon, Tony J; Goodrich-Hunsaker, Naomi J; Durdle, Courtney A; Doherty, Joanne L; Cunningham, Adam C; van den Bree, Marianne; Linden, David E J; Owen, Michael; Moss, Hayley; Kelly, Sinead; Donohoe, Gary; Murphy, Kieran C; Arango, Celso; Jahanshad, Neda; Thompson, Paul M; Bearden, Carrie E	November 1, 2020	Not Determined

helpcenter.collection.publications-tab

Collection - Publications

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

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

Frequently Asked Questions

How can I determine if a publication is relevant?

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

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

Glossary

Create Study

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

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

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

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

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

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

Contact NDA Help Desk

Data Expected List: Mandatory Data Structures

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

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

Data Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Research Subject and Pedigree	620	06/28/2022	1,739	06/28/2024	619	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
Genomics/omics	1	01/15/2020	1,425	05/15/2020	342	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.

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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
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Collection - Associated Studies

Clicking on the Study Title will open the study details in a new internet browser tab. The Abstract is available for viewing, providing the background explanation of the study, as provided by the Collection Owner.

Primary v. Secondary Analysis: The Data Usage column will have one of these two choices. An associated study that is listed as being used for Primary Analysis indicates at least some and potentially all of the data used was originally collected by the creator of the NDA Study. Secondary Analysis indicates the Study owner was not involved in the collection of data, and may be used as supporting data.

Private v. Shared State: Studies that remain private indicate the associated study is only available to users who are able to access the collection. A shared study is accessible to the general public.

Frequently Asked Questions

How do I associate a study to my collection?

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

Glossary

Associated Studies Tab

A tab in a Collection that lists the NDA Studies that have been created using data from that Collection including both Primary and Secondary Analysis NDA Studies.

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