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1 Numbers reported are subjects by age
New Trial
New Project

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

Please select an experiment type below

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

The table search feature is case insensitive and targets the experiment id, experiment name and experiment type columns. The experiment id is searched only when the search term entered is a number, and filtered using a startsWith comparison. When the search term is not numeric the experiment name is used to filter the results.
SelectExperiment IdExperiment NameExperiment Type
Created On
24HI-NGS_R1Omics02/16/2011
475MB1-10 (CHOP)Omics06/07/2016
490Illumina Infinium PsychArray BeadChip AssayOmics07/07/2016
501PharmacoBOLD Resting StatefMRI07/27/2016
506PVPREFOmics08/05/2016
509ABC-CT Resting v2EEG08/18/2016
13Comparison of FI expression in Autistic and Neurotypical Homo SapiensOmics12/28/2010
18AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics01/06/2011
22Stitching PCR SequencingOmics02/14/2011
26ASD_MethylationOmics03/01/2011
29Microarray family 03 (father, mother, sibling)Omics03/24/2011
37Standard paired-end sequencing of BCRsOmics04/19/2011
38Illumina Mate-Pair BCR sequencingOmics04/19/2011
39Custom Jumping LibrariesOmics04/19/2011
40Custom CapBPOmics04/19/2011
41ImmunofluorescenceOmics05/11/2011
43Autism brain sample genotyping, IlluminaOmics05/16/2011
47ARRA Autism Sequencing Collaboration at Baylor. SOLiD 4 SystemOmics08/01/2011
53AGRE Omni1-quadOmics10/11/2011
59AGP genotypingOmics04/03/2012
60Ultradeep 454 sequencing of synaptic genes from postmortem cerebella of individuals with ASD and neurotypical controlsOmics06/23/2012
63Microemulsion PCR and Targeted Resequencing for Variant Detection in ASDOmics07/20/2012
76Whole Genome Sequencing in Autism FamiliesOmics01/03/2013
519RestingfMRI11/08/2016
90Genotyped IAN SamplesOmics07/09/2013
91NJLAGS Axiom Genotyping ArrayOmics07/16/2013
93AGP genotyping (CNV)Omics09/06/2013
106Longitudinal Sleep Study. H20 200. Channel set 2EEG11/07/2013
107Longitudinal Sleep Study. H20 200. Channel set 3EEG11/07/2013
108Longitudinal Sleep Study. AURA 200EEG11/07/2013
105Longitudinal Sleep Study. H20 200. Channel set 1EEG11/07/2013
109Longitudinal Sleep Study. AURA 400EEG11/07/2013
116Gene Expression Analysis WG-6Omics01/07/2014
131Jeste Lab UCLA ACEii: Charlie Brown and Sesame Street - Project 1Eye Tracking02/27/2014
132Jeste Lab UCLA ACEii: Animacy - Project 1Eye Tracking02/27/2014
133Jeste Lab UCLA ACEii: Mom Stranger - Project 2Eye Tracking02/27/2014
134Jeste Lab UCLA ACEii: Face Emotion - Project 3Eye Tracking02/27/2014
145AGRE/FMR1_Illumina.JHUOmics04/14/2014
146AGRE/MECP2_Sanger.JHUOmics04/14/2014
147AGRE/MECP2_Junior.JHUOmics04/14/2014
151Candidate Gene Identification in familial AutismOmics06/09/2014
152NJLAGS Whole Genome SequencingOmics07/01/2014
154Math Autism Study - Vinod MenonfMRI07/15/2014
155RestingfMRI07/25/2014
156SpeechfMRI07/25/2014
159EmotionfMRI07/25/2014
160syllable contrastEEG07/29/2014
167School-age naturalistic stimuliEye Tracking09/19/2014
44AGRE/Broad Affymetrix 5.0 Genotype ExperimentOmics06/27/2011
45Exome Sequencing of 20 Sporadic Cases of Autism Spectrum DisorderOmics07/15/2011
Collection - Add Experiment
Add Supporting Documentation
Select File

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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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Neurodevelopment and Psychosis in the 22q11.2 Deletion Syndrome
Carrie Bearden 
Schizophrenia and other psychotic disorders are highly disabling conditions with poorly understood pathophysiology. One of the central challenges in elucidating mechanisms of psychosis is its remarkable genetic and phenotypic heterogeneity. Taking a genetics first approach (i.e., ascertaining patients based on a known, homogeneous genetic etiology) may allow us to overcome the barriers posed by this complexity. 22q11.2 deletion syndrome (Velocardiofacial/DiGeorge syndrome; 22q11DS) is a particularly compelling model, as it represents the greatest known genetic risk factor for psychosis identified to date. As the deletion can be detected very early in development, it offers an extraordinary opportunity for prospective investigation of early biomarkers of psychosis, long before disease-related processes begin to unfold. In the current funding cycle we have elucidated key points of convergence between disturbances in cognition, neural circuitry and gene expression relevant to psychosis in this genetic risk model and in idiopathic psychosis. In this competitive renewal application we plan to continue to prospectively follow a large cohort of youth with 22q11DS (n=90) through the highest risk period for illness onset, and demographically comparable typically developing controls (n=45), in order to establish whether common mechanisms contribute to psychotic symptomatology in 22q11DS and in idiopathic psychosis. Our primary goals (building on our findings from the original funding period) are to elucidate biological pathways and brain biomarkers which may represent convergent mechanisms for disease evolution. Given new discoveries in clinical high risk populations implicating inflammatory and neurohormonal processes in brain changes associated with the development of psychosis, we have added novel measures to assess these domains. In particular, our aims are to: 1) Investigate baseline and progressive abnormalities in structural and functional brain biomarkers, with the prediction that changes in temporal gray matter and thalamo-cortical functional connectivity will predict worsening cognition, social function and increased psychotic symptoms over time; 2) Determine the role of inflammatory mechanisms and stress sensitivity in the evolution of psychotic symptoms, using assays of both peripheral and neural inflammation [i.e., a novel free water diffusion imaging paradigm which is strongly correlated with positron emission tomography (PET) indices of activated microglia] and cortisol at each timepoint; 3) Determine biological pathways associated with psychosis-relevant phenotypes, by investigating upstream regulatory processes of circulating inflammatory markers; and 4) Given the recent discovery that 22q11.2 duplications may be protective against schizophrenia, we will prospectively follow 30 patients with gain of function mutations in the identical locus in order to investigate gene dosage effects on neurobehavioral phenotypes. This work will advance understanding of the genetic and developmental mechanisms by which 22q11.2 haploin sufficiency disrupts brain structure and function and ultimately contributes to disease pathogenesis.
NIMH Data Archive
07/19/2016
Funding Completed
Close Out
No
$1,941,879.00
124
Loading Chart...
NIH - Extramural None



R01MH085953-06 Neurodevelopment and Psychosis in the 22q11.2 Deletion Syndrome 09/06/2016 05/31/2021 165 175 UNIVERSITY OF CALIFORNIA LOS ANGELES $1,575,475.00
R21MH116473-01 Neurobiological basis of dysconnectivity in a genetic risk model of psychosis 09/25/2018 07/31/2022 70 70 UNIVERSITY OF CALIFORNIA LOS ANGELES $366,404.00

helpcenter.collection.general-tab

NDA Help Center

Collection - General Tab

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

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

Collection 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.
IDNameCreated DateStatusType
No records found.
helpcenter.collection.experiments-tab

NDA Help Center

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.
Adult ADHD Self-Report Scale Screener Clinical Assessments 37
BRIEF-Parent Clinical Assessments 70
Barratt Impulsivity Scale Clinical Assessments 20
Brief Psychiatric Rating Scale Clinical Assessments 79
Child Behavior Checklist (CBCL) 6-18 Clinical Assessments 20
Daily Stress Inventory Clinical Assessments 20
Global Functioning Scales Clinical Assessments 1
Prodromal Questionnaire Clinical Assessments 2
Repetitive Behavior Scale - Revised (RBS-R) Clinical Assessments 20
Repetitive Behavior Scales - Early Childhood Supplement Clinical Assessments 65
Risk Beliefs Questionnaire Clinical Assessments 20
Screen for Child Anxiety Related Disorders (SCARED), Parent/Child Clinical Assessments 71
Sensory Profile Adult Clinical Assessments 20
Sensory Profile Short Clinical Assessments 71
Social Communication Questionnaire (SCQ) - Current Form Clinical Assessments 20
Social Responsiveness Scale (SRS) Clinical Assessments 94
Social Responsiveness Scale (SRS) - Adult/Self Version Clinical Assessments 65
Structured Interview for Prodromal Syndromes/Scale of Prodromal Symptoms Clinical Assessments 95
Tanner Sexual Maturity Scale Clinical Assessments 20
Youth Self Report Clinical Assessments 38
helpcenter.collection.shared-data-tab

NDA Help Center

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.

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

Publications

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

PubMed IDStudyTitleJournalAuthorsDateStatus
38585897Create StudySynaptic-dependent developmental dysconnectivity in 22q11.2 deletion syndrome.bioRxiv : the preprint server for biologyAlvino, F G; Gini, S; Minetti, A; Pagani, M; Sastre-Yagüe, D; Barsotti, N; De Guzman, E; Schleifer, C; Stuefer, A; Kushan, L; Montani, C; Galbusera, A; Papaleo, F; Lombardo, M V; Pasqualetti, M; Bearden, C E; Gozzi, AApril 3, 2024Not Determined
38531844Create StudyUsing rare genetic mutations to revisit structural brain asymmetry.Nature communicationsKopal, 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, DaniloMarch 26, 2024Not Determined
38496470Create StudyFunctional MRI of imprinting memory: a new avenue for neurobiology of early learning.Research squareBehroozi, Mehdi; Lorenzi, Elena; Tabrik, Sepideh; Tegenthoff, Martin; Gozzi, Alessandro; Güntürkün, Onur; Vallortigara, GiorgioMarch 4, 2024Not Determined
38431758Create StudyEffects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations.Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologySchleifer, Charles H; O'Hora, Kathleen P; Fung, Hoki; Xu, Jennifer; Robinson, Taylor-Ann; Wu, Angela S; Kushan-Wells, Leila; Lin, Amy; Ching, Christopher R K; Bearden, Carrie EMay 1, 2024Not Determined
38382530Create StudyThalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.Cell stem cellShin, David; Kim, Chang N; Ross, Jayden; Hennick, Kelsey M; Wu, Sih-Rong; Paranjape, Neha; Leonard, Rachel; Wang, Jerrick C; Keefe, Matthew G; Pavlovic, Bryan J; Donohue, Kevin C; Moreau, Clara; Wigdor, Emilie M; Larson, H Hanh; Allen, Denise E; Cadwell, Cathryn R; Bhaduri, Aparna; Popova, Galina; Bearden, Carrie E; Pollen, Alex A; Jacquemont, Sebastien; Sanders, Stephan J; Haussler, David; Wiita, Arun P; Frost, Nicholas A; Sohal, Vikaas S; Nowakowski, Tomasz JMarch 7, 2024Not Determined
38326324Create StudyMacroscale coupling between structural and effective connectivity in the mouse brain.Scientific reportsBenozzo, Danilo; Baron, Giorgia; Coletta, Ludovico; Chiuso, Alessandro; Gozzi, Alessandro; Bertoldo, AlessandraFebruary 7, 2024Not Determined
38234766Create StudyNeurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications.Research squareGur, 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, RaquelDecember 29, 2023Not Determined
38224541Create StudySource-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.Human brain mappingGe, 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 EJanuary 1, 2024Not Determined
38081838Create StudyEvidence for increased parallel information transmission in human brain networks compared to macaques and male mice.Nature communicationsGriffa, Alessandra; Mach, Mathieu; Dedelley, Julien; Gutierrez-Barragan, Daniel; Gozzi, Alessandro; Allali, Gilles; Grandjean, Joanes; Van De Ville, Dimitri; Amico, EnricoDecember 11, 2023Not Determined
37997544Create StudyDistinct 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 ResearchO'Hora, Kathleen P; Kushan-Wells, Leila; Schleifer, Charles H; Cruz, Shayne; Hoftman, Gil D; Jalbrzikowski, Maria; Gur, Raquel E; Gur, Ruben C; Bearden, Carrie EDecember 1, 2023Not Determined
37961662Create StudyEffects of Gene Dosage and Development on Subcortical Nuclei Volumes in Individuals with 22q11.2 Copy Number Variations.bioRxiv : the preprint server for biologySchleifer, Charles H; O'Hora, Kathleen P; Fung, Hoki; Xu, Jennifer; Robinson, Taylor-Ann; Wu, Angela S; Kushan-Wells, Leila; Lin, Amy; Ching, Christopher R K; Bearden, Carrie ENovember 1, 2023Not Determined
37721640Create StudySleep in 22q11.2 Deletion Syndrome: Current Findings, Challenges, and Future Directions.Current psychiatry reportsO'Hora, Kathleen P; Schleifer, Charles H; Bearden, Carrie EOctober 1, 2023Not Determined
37718159Create StudyMicroglia complement signaling promotes neuronal elimination and normal brain functional connectivity.Cerebral cortex (New York, N.Y. : 1991)Deivasigamani, Senthilkumar; Miteva, Mariya T; Natale, Silvia; Gutierrez-Barragan, Daniel; Basilico, Bernadette; Di Angelantonio, Silvia; Weinhard, Laetitia; Molotkov, Dmitry; Deb, Sukrita; Pape, Constantin; Bolasco, Giulia; Galbusera, Alberto; Asari, Hiroki; Gozzi, Alessandro; Ragozzino, Davide; Gross, Cornelius TOctober 14, 2023Not Determined
37709253Create StudyLongitudinal Development of Thalamocortical Functional Connectivity in 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimagingSchleifer, Charles H; O'Hora, Kathleen P; Jalbrzikowski, Maria; Bondy, Elizabeth; Kushan-Wells, Leila; Lin, Amy; Uddin, Lucina Q; Bearden, Carrie EFebruary 1, 2024Not Determined
37661008Create StudyBeyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.Biological psychiatryBoen, 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 GroupJanuary 15, 2024Not Determined
37434504Create StudySubcortical Brain Alterations in Carriers of Genomic Copy Number Variants.The American journal of psychiatryKumar, 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, SébastienSeptember 1, 2023Not Determined
37292882Create StudyDistinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus.medRxiv : the preprint server for health sciencesO'Hora, Kathleen P; Kushan-Wells, Leila; Hoftman, Gil D; Jalbrzikowski, Maria; Gur, Raquel C; Gur, Ruben; Bearden, Carrie EMay 16, 2023Not Determined
37151981Create StudyNeurobehavioral risk factors influence prevalence and severity of hazardous substance use in youth at genetic and clinical high risk for psychosis.Frontiers in psychiatryAmir, Carolyn M; Kapler, Simon; Hoftman, Gil D; Kushan, Leila; Zinberg, Jamie; Cadenhead, Kristin S; Kennedy, Leda; Cornblatt, Barbara A; Keshavan, Matcheri; Mathalon, Daniel H; Perkins, Diana O; Stone, William; Tsuang, Ming T; Walker, Elaine F; Woods, Scott W; Cannon, Tyrone D; Addington, Jean; Bearden, Carrie EJanuary 1, 2023Not Determined
36973511Create StudyA consensus protocol for functional connectivity analysis in the rat brain.Nature neuroscienceGrandjean, Joanes; Desrosiers-Gregoire, Gabriel; Anckaerts, Cynthia; Angeles-Valdez, Diego; Ayad, Fadi; Barrière, David A; Blockx, Ines; Bortel, Aleksandra; Broadwater, Margaret; Cardoso, Beatriz M; Célestine, Marina; Chavez-Negrete, Jorge E; Choi, Sangcheon; Christiaen, Emma; Clavijo, Perrin; Colon-Perez, Luis; Cramer, Samuel; Daniele, Tolomeo; Dempsey, Elaine; Diao, Yujian; Doelemeyer, Arno; Dopfel, David; Dvořáková, Lenka; Falfán-Melgoza, Claudia; Fernandes, Francisca F; Fowler, Caitlin F; Fuentes-Ibañez, Antonio; Garin, Clément M; Gelderman, Eveline; Golden, Carla E M; Guo, Chao C G; Henckens, Marloes J A G; Hennessy, Lauren A; Herman, Peter; Hofwijks, Nita; Horien, Corey; Ionescu, Tudor M; Jones, Jolyon; Kaesser, Johannes; Kim, Eugene; Lambers, Henriette; Lazari, Alberto; Lee, Sung-Ho; Lillywhite, Amanda; Liu, Yikang; Liu, Yanyan Y; López-Castro, Alejandra; López-Gil, Xavier; Ma, Zilu; MacNicol, Eilidh; Madularu, Dan; Mandino, Francesca; Marciano, Sabina; McAuslan, Matthew J; McCunn, Patrick; McIntosh, Alison; Meng, Xianzong; Meyer-Baese, Lisa; Missault, Stephan; Moro, Federico; Naessens, Daphne M P; Nava-Gomez, Laura J; Nonaka, Hiroi; Ortiz, Juan J; Paasonen, Jaakko; Peeters, Lore M; Pereira, Mickaël; Perez, Pablo D; Pompilus, Marjory; Prior, Malcolm; Rakhmatullin, Rustam; Reimann, Henning M; Reinwald, Jonathan; Del Rio, Rodrigo Triana; Rivera-Olvera, Alejandro; Ruiz-Pérez, Daniel; Russo, Gabriele; Rutten, Tobias J; Ryoke, Rie; Sack, Markus; Salvan, Piergiorgio; Sanganahalli, Basavaraju G; Schroeter, Aileen; Seewoo, Bhedita J; Selingue, Erwan; Seuwen, Aline; Shi, Bowen; Sirmpilatze, Nikoloz; Smith, Joanna A B; Smith, Corrie; Sobczak, Filip; Stenroos, Petteri J; Straathof, Milou; Strobelt, Sandra; Sumiyoshi, Akira; Takahashi, Kengo; Torres-García, Maria E; Tudela, Raul; van den Berg, Monica; van der Marel, Kajo; van Hout, Aran T B; Vertullo, Roberta; Vidal, Benjamin; Vrooman, Roël M; Wang, Victora X; Wank, Isabel; Watson, David J G; Yin, Ting; Zhang, Yongzhi; Zurbruegg, Stefan; Achard, Sophie; Alcauter, Sarael; Auer, Dorothee P; Barbier, Emmanuel L; Baudewig, Jürgen; Beckmann, Christian F; Beckmann, Nicolau; Becq, Guillaume J P C; Blezer, Erwin L A; Bolbos, Radu; Boretius, Susann; Bouvard, Sandrine; Budinger, Eike; Buxbaum, Joseph D; Cash, Diana; Chapman, Victoria; Chuang, Kai-Hsiang; Ciobanu, Luisa; Coolen, Bram F; Dalley, Jeffrey W; Dhenain, Marc; Dijkhuizen, Rick M; Esteban, Oscar; Faber, Cornelius; Febo, Marcelo; Feindel, Kirk W; Forloni, Gianluigi; Fouquet, Jérémie; Garza-Villarreal, Eduardo A; Gass, Natalia; Glennon, Jeffrey C; Gozzi, Alessandro; Gröhn, Olli; Harkin, Andrew; Heerschap, Arend; Helluy, Xavier; Herfert, Kristina; Heuser, Arnd; Homberg, Judith R; Houwing, Danielle J; Hyder, Fahmeed; Ielacqua, Giovanna Diletta; Jelescu, Ileana O; Johansen-Berg, Heidi; Kaneko, Gen; Kawashima, Ryuta; Keilholz, Shella D; Keliris, Georgios A; Kelly, Clare; Kerskens, Christian; Khokhar, Jibran Y; Kind, Peter C; Langlois, Jean-Baptiste; Lerch, Jason P; López-Hidalgo, Monica A; Manahan-Vaughan, Denise; Marchand, Fabien; Mars, Rogier B; Marsella, Gerardo; Micotti, Edoardo; Muñoz-Moreno, Emma; Near, Jamie; Niendorf, Thoralf; Otte, Willem M; Pais-Roldán, Patricia; Pan, Wen-Ju; Prado-Alcalá, Roberto A; Quirarte, Gina L; Rodger, Jennifer; Rosenow, Tim; Sampaio-Baptista, Cassandra; Sartorius, Alexander; Sawiak, Stephen J; Scheenen, Tom W J; Shemesh, Noam; Shih, Yen-Yu Ian; Shmuel, Amir; Soria, Guadalupe; Stoop, Ron; Thompson, Garth J; Till, Sally M; Todd, Nick; Van Der Linden, Annemie; van der Toorn, Annette; van Tilborg, Geralda A F; Vanhov (see original citation for additional authors)April 1, 2023Not Determined
36865328Create StudySubcortical brain alterations in carriers of genomic copy number variants.medRxiv : the preprint server for health sciencesKumar, 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; Richetin, Sonia; 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; Almasy, Laura; Glahn, David C; Bearden, Carrie E; Thompson, Paul M; Jacquemont, SébastienFebruary 22, 2023Not Determined
36865122Create StudyMacroscale coupling between structural and effective connectivity in the mouse brain.bioRxiv : the preprint server for biologyBenozzo, Danilo; Baron, Giorgia; Coletta, Ludovico; Chiuso, Alessandro; Gozzi, Alessandro; Bertoldo, AlessandraFebruary 27, 2023Not Determined
36864136Create StudyRare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.Nature human behaviourKopal, 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, DaniloJune 1, 2023Not Determined
36737483Create StudyCDKL5 sculpts functional callosal connectivity to promote cognitive flexibility.Molecular psychiatryAwad, Patricia Nora; Zerbi, Valerio; Johnson-Venkatesh, Erin M; Damiani, Francesca; Pagani, Marco; Markicevic, Marija; Nickles, Sarah; Gozzi, Alessandro; Umemori, Hisashi; Fagiolini, MichelaFebruary 3, 2023Not Determined
36372570Create StudyGenetic Heterogeneity Shapes Brain Connectivity in Psychiatry.Biological psychiatryMoreau, 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, SebastienJanuary 1, 2023Not Determined
36192458Create StudyA genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome.Molecular psychiatryFiksinski, Ania M; Hoftman, Gil D; Vorstman, Jacob A S; Bearden, Carrie EJanuary 1, 2023Not Determined
36059063Create StudyBrain functional connectivity mirrors genetic pleiotropy in psychiatric conditions.Brain : a journal of neurologyMoreau, 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, SebastienApril 19, 2023Not Determined
35948562Create StudyLocal molecular and global connectomic contributions to cross-disorder cortical abnormalities.Nature communicationsHansen, 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, BratislavAugust 10, 2022Not Determined
35915065Create StudyD-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.Translational psychiatryLombardo, Barbara; Pagani, Marco; De Rosa, Arianna; Nunziato, Marcella; Migliarini, Sara; Garofalo, Martina; Terrile, Marta; D'Argenio, Valeria; Galbusera, Alberto; Nuzzo, Tommaso; Ranieri, Annaluisa; Vitale, Andrea; Leggiero, Eleonora; Di Maio, Anna; Barsotti, Noemi; Borello, Ugo; Napolitano, Francesco; Mandarino, Alessandra; Carotenuto, Marco; Heresco-Levy, Uriel; Pasqualetti, Massimo; Malatesta, Paolo; Gozzi, Alessandro; Errico, Francesco; Salvatore, Francesco; Pastore, Lucio; Usiello, AlessandroAugust 1, 2022Not Determined
35896619Create StudyLongitudinal trajectories of cortical development in 22q11.2 copy number variants and typically developing controls.Molecular psychiatryJalbrzikowski, Maria; Lin, Amy; Vajdi, Ariana; Grigoryan, Vardui; Kushan, Leila; Ching, Christopher R K; Schleifer, Charles; Hayes, Rebecca A; Chu, Stephanie A; Sugar, Catherine A; Forsyth, Jennifer K; Bearden, Carrie EOctober 1, 2022Not Determined
35820809Create StudyCopy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance.Journal of neurodevelopmental disordersO'Hora, Kathleen P; Lin, Amy; Kushan-Wells, Leila; Bearden, Carrie EJuly 10, 2022Not Determined
35483565Create StudySomatosensory cortex hyperconnectivity and impaired whisker-dependent responses in Cntnap2-/- mice.Neurobiology of diseaseBalasco, Luigi; Pagani, Marco; Pangrazzi, Luca; Chelini, Gabriele; Viscido, Francesca; Chama, Alessandra Georgette Ciancone; Galbusera, Alberto; Provenzano, Giovanni; Gozzi, Alessandro; Bozzi, YuriJuly 1, 2022Not Determined
35236119Create StudyGenes 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 psychiatryJacquemont, 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 NetworkMarch 1, 2022Not Determined
35217677Create StudyIncreased fMRI connectivity upon chemogenetic inhibition of the mouse prefrontal cortex.Nature communicationsRocchi, Federico; Canella, Carola; Noei, Shahryar; Gutierrez-Barragan, Daniel; Coletta, Ludovico; Galbusera, Alberto; Stuefer, Alexia; Vassanelli, Stefano; Pasqualetti, Massimo; Iurilli, Giuliano; Panzeri, Stefano; Gozzi, AlessandroFebruary 25, 2022Not Determined
35119167Create StudyCross 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 neurosciencesCheon, 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 MMay 1, 2022Not Determined
34998465Create StudyUnique spatiotemporal fMRI dynamics in the awake mouse brain.Current biology : CBGutierrez-Barragan, Daniel; Singh, Neha Atulkumar; Alvino, Filomena Grazia; Coletta, Ludovico; Rocchi, Federico; De Guzman, Elizabeth; Galbusera, Alberto; Uboldi, Mauro; Panzeri, Stefano; Gozzi, AlessandroFebruary 7, 2022Not Determined
34841284Create StudyTranscriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression.Brain, behavior, & immunity - healthLin, 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 EDecember 1, 2021Not Determined
34791077Create StudyAbnormal Whisker-Dependent Behaviors and Altered Cortico-Hippocampal Connectivity in Shank3b-/- Mice.Cerebral cortex (New York, N.Y. : 1991)Balasco, Luigi; Pagani, Marco; Pangrazzi, Luca; Chelini, Gabriele; Ciancone Chama, Alessandra Georgette; Shlosman, Evgenia; Mattioni, Lorenzo; Galbusera, Alberto; Iurilli, Giuliano; Provenzano, Giovanni; Gozzi, Alessandro; Bozzi, YuriJuly 12, 2022Not Determined
34759270Create StudyOpposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers.Translational psychiatrySeitz-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, OferNovember 10, 2021Not Determined
34620586Create StudyHeterotopia in Individuals with 22q11.2 Deletion Syndrome.AJNR. American journal of neuroradiologyNeuhaus, 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, ANovember 1, 2021Not Determined
34588607Create StudyThe prediction-error hypothesis of schizophrenia: new data point to circuit-specific changes in dopamine activity.Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyMillard, Samuel J; Bearden, Carrie E; Karlsgodt, Katherine H; Sharpe, Melissa JFebruary 1, 2022Not Determined
34381171Create StudyBrain mapping across 16 autism mouse models reveals a spectrum of functional connectivity subtypes.Molecular psychiatryZerbi, V; Pagani, M; Markicevic, M; Matteoli, M; Pozzi, D; Fagiolini, M; Bozzi, Y; Galbusera, A; Scattoni, M L; Provenzano, G; Banerjee, A; Helmchen, F; Basson, M A; Ellegood, J; Lerch, J P; Rudin, M; Gozzi, A; Wenderoth, NDecember 1, 2021Not Determined
34342000Create StudyHarnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.Annals of the New York Academy of SciencesCable, Jennifer; Purcell, Ryan H; Robinson, Elise; Vorstman, Jacob A S; Chung, Wendy K; Constantino, John N; Sanders, Stephan J; Sahin, Mustafa; Dolmetsch, Ricardo E; Shah, Bina Maniar; Thurm, Audrey; Martin, Christa L; Bearden, Carrie E; Mulle, Jennifer GDecember 1, 2021Not Determined
34285187Create StudyEffects of eight neuropsychiatric copy number variants on human brain structure.Translational psychiatryModenato, 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, SébastienJuly 20, 2021Not Determined
34261699Create StudyMitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus.The Journal of neuroscience : the official journal of the Society for NeuroscienceGokhale, Avanti; Lee, Chelsea E; Zlatic, Stephanie A; Freeman, Amanda A H; Shearing, Nicole; Hartwig, Cortnie; Ogunbona, Oluwaseun; Bassell, Julia L; Wynne, Meghan E; Werner, Erica; Xu, Chongchong; Wen, Zhexing; Duong, Duc; Seyfried, Nicholas T; Bearden, Carrie E; Oláh, Viktor János; Rowan, Matthew J M; Glausier, Jill R; Lewis, David A; Faundez, VictorAugust 4, 2021Not Determined
34126928Create StudyInter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome.Journal of neurodevelopmental disordersMoore, 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, DoronJune 14, 2021Not Determined
33863277Create StudySocial cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders.Journal of neurodevelopmental disordersJalal, Rhideeta; Nair, Aarti; Lin, Amy; Eckfeld, Ariel; Kushan, Leila; Zinberg, Jamie; Karlsgodt, Katherine H; Cannon, Tyrone D; Bearden, Carrie EApril 17, 2021Not Determined
33850128Create StudyDifferences in subcortico-cortical interactions identified from connectome and microcircuit models in autism.Nature communicationsPark, Bo-Yong; Hong, Seok-Jun; Valk, Sofie L; Paquola, Casey; Benkarim, Oualid; Bethlehem, Richard A I; Di Martino, Adriana; Milham, Michael P; Gozzi, Alessandro; Yeo, B T Thomas; Smallwood, Jonathan; Bernhardt, Boris CApril 13, 2021Not Determined
33812299Create StudyStructural and functional brain alterations revealed by neuroimaging in CNV carriers.Current opinion in genetics & developmentMoreau, Clara A; Ching, Christopher Rk; Kumar, Kuldeep; Jacquemont, Sebastien; Bearden, Carrie EJune 1, 2021Not Determined
33782512Create StudyA normative chart for cognitive development in a genetically selected population.Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyFiksinski, 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 JJune 1, 2022Not Determined
33638978Create StudyPrioritizing 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 EJune 10, 2021Not Determined
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33384013Create StudyA Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.The American journal of psychiatryChawner, 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 MJanuary 1, 2021Not Determined
33355124Create StudyNetwork structure of the mouse brain connectome with voxel resolution.Science advancesColetta, Ludovico; Pagani, Marco; Whitesell, Jennifer D; Harris, Julie A; Bernhardt, Boris; Gozzi, AlessandroDecember 1, 2020Not Determined
33290731Create StudyRegional, Layer, and Cell-Type-Specific Connectivity of the Mouse Default Mode Network.NeuronWhitesell, Jennifer D; Liska, Adam; Coletta, Ludovico; Hirokawa, Karla E; Bohn, Phillip; Williford, Ali; Groblewski, Peter A; Graddis, Nile; Kuan, Leonard; Knox, Joseph E; Ho, Anh; Wakeman, Wayne; Nicovich, Philip R; Nguyen, Thuc Nghi; van Velthoven, Cindy T J; Garren, Emma; Fong, Olivia; Naeemi, Maitham; Henry, Alex M; Dee, Nick; Smith, Kimberly A; Levi, Boaz; Feng, David; Ng, Lydia; Tasic, Bosiljka; Zeng, Hongkui; Mihalas, Stefan; Gozzi, Alessandro; Harris, Julie AFebruary 3, 2021Not Determined
33169016Create StudyUsing common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.Nature medicineDavies, 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 SDecember 1, 2020Not Determined
33139857Create StudyBrain morphometry in 22q11.2 deletion syndrome: an exploration of differences in cortical thickness, surface area, and their contribution to cortical volume.Scientific reportsGudbrandsen, M; Daly, E; Murphy, C M; Blackmore, C E; Rogdaki, M; Mann, C; Bletsch, A; Kushan, L; Bearden, C E; Murphy, D G M; Craig, M C; Ecker, ChristineNovember 2, 2020Not Determined
33077750Create StudyMutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.Nature communicationsMoreau, Clara A; Urchs, Sebastian G W; Kuldeep, Kumar; Orban, Pierre; Schramm, Catherine; Dumas, Guillaume; Labbe, Aurélie; Huguet, Guillaume; Douard, Elise; Quirion, Pierre-Olivier; Lin, Amy; Kushan, Leila; Grot, Stephanie; Luck, David; Mendrek, Adrianna; Potvin, Stephane; Stip, Emmanuel; Bourgeron, Thomas; Evans, Alan C; Bearden, Carrie E; Bellec, Pierre; Jacquemont, SebastienOctober 19, 2020Not Determined
32989314Create StudyNeuronal defects in a human cellular model of 22q11.2 deletion syndrome.Nature medicineKhan, Themasap A; Revah, Omer; Gordon, Aaron; Yoon, Se-Jin; Krawisz, Anna K; Goold, Carleton; Sun, Yishan; Kim, Chul Hoon; Tian, Yuan; Li, Min-Yin; Schaepe, Julia M; Ikeda, Kazuya; Amin, Neal D; Sakai, Noriaki; Yazawa, Masayuki; Kushan, Leila; Nishino, Seiji; Porteus, Matthew H; Rapoport, Judith L; Bernstein, Jonathan A; O'Hara, Ruth; Bearden, Carrie E; Hallmayer, Joachim F; Huguenard, John R; Geschwind, Daniel H; Dolmetsch, Ricardo E; Paşca, Sergiu PDecember 1, 2020Not Determined
32513259Create StudyNeuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion.Molecular autismGudbrandsen, Maria; Bletsch, Anke; Mann, Caroline; Daly, Eileen; Murphy, Clodagh M; Stoencheva, Vladimira; Blackmore, Charlotte E; Rogdaki, Maria; Kushan, Leila; Bearden, Carrie E; Murphy, Declan G M; Craig, Michael C; Ecker, ChristineJune 2020Not Determined
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32301246Create StudyENIGMA-DTI: Translating reproducible white matter deficits into personalized vulnerability metrics in cross-diagnostic psychiatric research.Human brain mappingKochunov, 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, NedaJanuary 2022Not Determined
32198361Create StudyENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.Translational psychiatryThompson, Paul M; Jahanshad, Neda; Ching, Christopher R K; Salminen, Lauren E; Thomopoulos, Sophia I; Bright, Joanna; Baune, Bernhard T; Bertolín, Sara; Bralten, Janita; Bruin, Willem B; Bülow, Robin; Chen, Jian; Chye, Yann; Dannlowski, Udo; de Kovel, Carolien G F; Donohoe, Gary; Eyler, Lisa T; Faraone, Stephen V; Favre, Pauline; Filippi, Courtney A; Frodl, Thomas; Garijo, Daniel; Gil, Yolanda; Grabe, Hans J; Grasby, Katrina L; Hajek, Tomas; Han, Laura K M; Hatton, Sean N; Hilbert, Kevin; Ho, Tiffany C; Holleran, Laurena; Homuth, Georg; Hosten, Norbert; Houenou, Josselin; Ivanov, Iliyan; Jia, Tianye; Kelly, Sinead; Klein, Marieke; Kwon, Jun Soo; Laansma, Max A; Leerssen, Jeanne; Lueken, Ulrike; Nunes, Abraham; Neill, Joseph O'; Opel, Nils; Piras, Fabrizio; Piras, Federica; Postema, Merel C; Pozzi, Elena; Shatokhina, Natalia; Soriano-Mas, Carles; Spalletta, Gianfranco; Sun, Daqiang; Teumer, Alexander; Tilot, Amanda K; Tozzi, Leonardo; van der Merwe, Celia; Van Someren, Eus J W; van Wingen, Guido A; Völzke, Henry; Walton, Esther; Wang, Lei; Winkler, Anderson M; Wittfeld, Katharina; Wright, Margaret J; Yun, Je-Yeon; Zhang, Guohao; Zhang-James, Yanli; Adhikari, Bhim M; Agartz, Ingrid; Aghajani, Moji; Aleman, André; Althoff, Robert R; Altmann, Andre; Andreassen, Ole A; Baron, David A; Bartnik-Olson, Brenda L; Marie Bas-Hoogendam, Janna; Baskin-Sommers, Arielle R; Bearden, Carrie E; Berner, Laura A; Boedhoe, Premika S W; Brouwer, Rachel M; Buitelaar, Jan K; Caeyenberghs, Karen; Cecil, Charlotte A M; Cohen, Ronald A; Cole, James H; Conrod, Patricia J; De Brito, Stephane A; de Zwarte, Sonja M C; Dennis, Emily L; Desrivieres, Sylvane; Dima, Danai; Ehrlich, Stefan; Esopenko, Carrie; Fairchild, Graeme; Fisher, Simon E; Fouche, Jean-Paul; Francks, Clyde; Frangou, Sophia; Franke, Barbara; Garavan, Hugh P; Glahn, David C; Groenewold, Nynke A; Gurholt, Tiril P; Gutman, Boris A; Hahn, Tim; Harding, Ian H; Hernaus, Dennis; Hibar, Derrek P; Hillary, Frank G; Hoogman, Martine; Hulshoff Pol, Hilleke E; Jalbrzikowski, Maria; Karkashadze, George A; Klapwijk, Eduard T; Knickmeyer, Rebecca C; Kochunov, Peter; Koerte, Inga K; Kong, Xiang-Zhen; Liew, Sook-Lei; Lin, Alexander P; Logue, Mark W; Luders, Eileen; Macciardi, Fabio; Mackey, Scott; Mayer, Andrew R; McDonald, Carrie R; McMahon, Agnes B; Medland, Sarah E; Modinos, Gemma; Morey, Rajendra A; Mueller, Sven C; Mukherjee, Pratik; Namazova-Baranova, Leyla; Nir, Talia M; Olsen, Alexander; Paschou, Peristera; Pine, Daniel S; Pizzagalli, Fabrizio; Rentería, Miguel E; Rohrer, Jonathan D; Sämann, Philipp G; Schmaal, Lianne; Schumann, Gunter; Shiroishi, Mark S; Sisodiya, Sanjay M; Smit, Dirk J A; Sønderby, Ida E; Stein, Dan J; Stein, Jason L; Tahmasian, Masoud; Tate, David F; Turner, Jessica A; van den Heuvel, Odile A; van der Wee, Nic J A; van der Werf, Ysbrand D; van Erp, Theo G M; van Haren, Neeltje E M; van Rooij, Daan; van Velzen, Laura S; Veer, Ilya M; Veltman, Dick J; Villalon-Reina, Julio E; Walter, Henrik; Whelan, Christopher D; Wilde, Elisabeth A; Zarei, Mojtaba; Zelman, Vladimir; ENIGMA ConsortiumMarch 2020Not Determined
32143830Create StudyReciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder.Biological psychiatryLin, Amy; Vajdi, Ariana; Kushan-Wells, Leila; Helleman, Gerhard; Hansen, Laura Pacheco; Jonas, Rachel K; Jalbrzikowski, Maria; Kingsbury, Lyle; Raznahan, Armin; Bearden, Carrie EAugust 2020Not Determined
32046535Create StudyMapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.The American journal of psychiatryChing, Christopher R K; Gutman, Boris A; Sun, Daqiang; Villalon Reina, Julio; Ragothaman, Anjanibhargavi; Isaev, Dmitry; Zavaliangos-Petropulu, Artemis; Lin, Amy; Jonas, Rachel K; Kushan, Leila; Pacheco-Hansen, Laura; Vajdi, Ariana; Forsyth, Jennifer K; Jalbrzikowski, Maria; Bakker, Geor; van Amelsvoort, Therese; Antshel, Kevin M; Fremont, Wanda; Kates, Wendy R; Campbell, Linda E; McCabe, Kathryn L; Craig, Michael C; Daly, Eileen; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan G; Murphy, Kieran C; Fiksinski, Ania; Koops, Sanne; Vorstman, Jacob; Crowley, T Blaine; Emanuel, Beverly S; Gur, Raquel E; McDonald-McGinn, Donna M; Roalf, David R; Ruparel, Kosha; Schmitt, J Eric; Zackai, Elaine H; Durdle, Courtney A; Goodrich-Hunsaker, Naomi J; Simon, Tony J; Bassett, Anne S; Butcher, Nancy J; Chow, Eva W C; Vila-Rodriguez, Fidel; Cunningham, Adam; Doherty, Joanne; Linden, David E; Moss, Hayley; Owen, Michael J; van den Bree, Marianne; Crossley, Nicolas A; Repetto, Gabriela M; Thompson, Paul M; Bearden, Carrie EJuly 2020Not Determined
32015465Create StudyGenetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.Molecular psychiatryCleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; Holleman, Aaron M; Johnston, H Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M; Gur, Raquel E; Morrow, Bernice E; Swillen, Ann; Vorstman, Jacob A S; Bearden, Carrie E; Chow, Eva W C; van den Bree, Marianne; Emanuel, Beverly S; Vermeesch, Joris R; Warren, Stephen T; Owen, Michael J; Chopra, Pankaj; Cutler, David J; Duncan, Richard; Kotlar, Alex V; Mulle, Jennifer G; Voss, Anna J; Zwick, Michael E; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih-Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold I; Tran, Oanh; Holmans, Peter; Pardinas, Antonio; Walters, James T R; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J; Costain, Gregory A; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A M J; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T Blaine; McGinn, Daniel E; Moss, Edward M; Sharkus, Robert J; Unolt, Marta; Zackai, Elaine H; Calkins, Monica E; Gallagher, Robert S; Gur, Ruben C; Tang, Sunny X; Fritsch, Rosemarie; Ornstein, Claudia; Repetto, Gabriela M; Breetvelt, Elemi; Duijff, Sasja N; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C; Prasad, Sarah E; Daly, Eileen M; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan G; Buzzanca, Antonio; Fabio, Fabio Di; Digilio, Maria C; Pontillo, Maria; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F; Ousley, Opal Y; Carmel, Miri; Gothelf, Doron; Mekori-Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Weizman, Abraham; Kushan, Leila; Jalbrzikowski, Maria; Armando, Marco; Eliez, Stéphan; Sandini, Corrado; Schneider, Maude; Béna, Frédérique Sloan; Antshel, Kevin M; Fremont, Wanda; Kates, Wendy R; Belzeaux, Raoul; Busa, Tiffany; Philip, Nicole; Campbell, Linda E; McCabe, Kathryn L; Hooper, Stephen R; Schoch, Kelly; Shashi, Vandana; Simon, Tony J; Tassone, Flora; Arango, Celso; Fraguas, David; García-Miñaúr, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suñer, Damià H; Raventos-Simic, Jasna; International 22q11.2DS Brain and Behavior Consortium; Epstein, Michael P; Williams, Nigel M; Bassett, Anne SAugust 2021Not Determined
31917352Create StudyAcute and Repeated Intranasal Oxytocin Differentially Modulate Brain-wide Functional Connectivity.NeurosciencePagani, Marco; De Felice, Alessia; Montani, Caterina; Galbusera, Alberto; Papaleo, Francesco; Gozzi, AlessandroOctober 1, 2020Not Determined
31870554Create StudyComplete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.American journal of human geneticsZhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; McDonald-McGinn, Donna M; McGinn, Daniel; Crowley, T Blaine; Repetto, Gabriela M; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Kates, Wendy R; Digilio, M Cristina; Unolt, Marta; Marino, Bruno; Pontillo, Maria; Armando, Marco; Di Fabio, Fabio; Vicari, Stefano; van den Bree, Marianne; Moss, Hayley; Owen, Michael J; Murphy, Kieran C; Murphy, Clodagh M; Murphy, Declan; Schoch, Kelly; Shashi, Vandana; Tassone, Flora; Simon, Tony J; Shprintzen, Robert J; Campbell, Linda; Philip, Nicole; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; International 22q11.2 Brain and Behavior Consortium; Bearden, Carrie E; Vingerhoets, Claudia; van Amelsvoort, Therese; Eliez, Stephan; Schneider, Maude; Vorstman, Jacob A S; Gothelf, Doron; Zackai, Elaine; Agopian, A J; Gur, Raquel E; Bassett, Anne S; Emanuel, Beverly S; Goldmuntz, Elizabeth; Mitchell, Laura E; Wang, Tao; Morrow, Bernice EJanuary 2020Not Determined
31856383Create StudyFast and accurate initialization of the free-water imaging model parameters from multi-shell diffusion MRI.NMR in biomedicineBergmann, Ørjan; Henriques, Rafael; Westin, Carl-Fredrik; Pasternak, OferMarch 2020Not Determined
31548702Create StudyA framework for the investigation of rare genetic disorders in neuropsychiatry.Nature medicineSanders, Stephan J; Sahin, Mustafa; Hostyk, Joseph; Thurm, Audrey; Jacquemont, Sebastien; Avillach, Paul; Douard, Elise; Martin, Christa L; Modi, Meera E; Moreno-De-Luca, Andres; Raznahan, Armin; Anticevic, Alan; Dolmetsch, Ricardo; Feng, Guoping; Geschwind, Daniel H; Glahn, David C; Goldstein, David B; Ledbetter, David H; Mulle, Jennifer G; Pasca, Sergiu P; Samaco, Rodney; Sebat, Jonathan; Pariser, Anne; Lehner, Thomas; Gur, Raquel E; Bearden, Carrie EOctober 2019Not Determined
31500805Create StudySynaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant-Mediated Risk for Neuropsychiatric Disorders.Biological psychiatryForsyth, Jennifer K; Nachun, Daniel; Gandal, Michael J; Geschwind, Daniel H; Anderson, Ariana E; Coppola, Giovanni; Bearden, Carrie EJanuary 2020Not Determined
31358905Create StudyAltered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.Molecular psychiatryVillalón-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 ENovember 2020Not Determined
31303490Create StudyInfraslow State Fluctuations Govern Spontaneous fMRI Network Dynamics.Current biology : CBGutierrez-Barragan, Daniel; Basson, M Albert; Panzeri, Stefano; Gozzi, AlessandroJuly 22, 2019Not Determined
30978492Create StudyMK-curve - Characterizing the relation between mean kurtosis and alterations in the diffusion MRI signal.NeuroImageZhang, Fan; Ning, Lipeng; O'Donnell, Lauren J; Pasternak, OferAugust 2019Not Determined
30833507Create StudySystems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.The Journal of neuroscience : the official journal of the Society for NeuroscienceGokhale, Avanti; Hartwig, Cortnie; Freeman, Amanda A H; Bassell, Julia L; Zlatic, Stephanie A; Sapp Savas, Christie; Vadlamudi, Trishna; Abudulai, Farida; Pham, Tyler T; Crocker, Amanda; Werner, Erica; Wen, Zhexing; Repetto, Gabriela M; Gogos, Joseph A; Claypool, Steven M; Forsyth, Jennifer K; Bearden, Carrie E; Glausier, Jill; Lewis, David A; Seyfried, Nicholas T; Kwong, Jennifer Q; Faundez, VictorMay 2019Not Determined
30631427Create StudyThe many roads to psychosis: recent advances in understanding risk and mechanisms.F1000ResearchBearden, Carrie E; Forsyth, Jennifer KJanuary 2018Not Determined
30593497Create StudyAberrant Somatosensory Processing and Connectivity in Mice Lacking Engrailed-2.The Journal of neuroscience : the official journal of the Society for NeuroscienceChelini, Gabriele; Zerbi, Valerio; Cimino, Luca; Grigoli, Andrea; Markicevic, Marija; Libera, Francesco; Robbiati, Sergio; Gadler, Mattia; Bronzoni, Silvia; Miorelli, Silvia; Galbusera, Alberto; Gozzi, Alessandro; Casarosa, Simona; Provenzano, Giovanni; Bozzi, YuriFebruary 20, 2019Not Determined
30522971Create StudyAbnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome.NeuroImage. ClinicalKikinis, Zora; Makris, Nikos; Sydnor, Valerie J; Bouix, Sylvain; Pasternak, Ofer; Coman, Ioana L; Antshel, Kevin M; Fremont, Wanda; Kubicki, Marek R; Shenton, Martha E; Kates, Wendy R; Rathi, YogeshJanuary 2019Not Determined
30478034Create StudyDissociable Disruptions in Thalamic and Hippocampal Resting-State Functional Connectivity in Youth with 22q11.2 Deletions.The Journal of neuroscience : the official journal of the Society for NeuroscienceSchleifer, Charles; Lin, Amy; Kushan, Leila; Ji, Jie Lisa; Yang, Genevieve; Bearden, Carrie E; Anticevic, AlanFebruary 2019Not Determined
30289625Create StudyVariance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.American journal of medical genetics. Part AZhao, Yingjie; Guo, Tingwei; Fiksinski, Ania; Breetvelt, Elemi; McDonald-McGinn, Donna M; Crowley, Terrence B; Diacou, Alexander; Schneider, Maude; Eliez, Stephan; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris; Chow, Eva W C; Gothelf, Doron; Duijff, Sasja; Evers, Rens; van Amelsvoort, Thérèse A; van den Bree, Marianne; Owen, Michael; Niarchou, Maria; Bearden, Carrie E; Ornstein, Claudia; Pontillo, Maria; Buzzanca, Antonino; Vicari, Stefano; Armando, Marco; Murphy, Kieran C; Murphy, Clodagh; Garcia-Minaur, Sixto; Philip, Nicole; Campbell, Linda; Morey-Cañellas, Jaume; Raventos, Jasna; Rosell, Jordi; Heine-Suner, Damian; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine; Emanuel, Beverly S; Wang, Tao; Kates, Wendy R; Bassett, Anne S; Vorstman, Jacob A S; Morrow, Bernice E; International 22q11.2 Brain and Behavior ConsortiumOctober 1, 2018Relevant
30272146Create StudyThe Neuroanatomy of Autism Spectrum Disorder Symptomatology in 22q11.2 Deletion Syndrome.Cerebral cortex (New York, N.Y. : 1991)Gudbrandsen, M; Daly, E; Murphy, C M; Wichers, R H; Stoencheva, V; Perry, E; Andrews, D; Blackmore, C E; Rogdaki, M; Kushan, L; Bearden, C E; Murphy, D G M; Craig, M C; Ecker, CJuly 2019Not Determined
30093352Create StudyAttention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome.Schizophrenia researchNiarchou, Maria; Chawner, Samuel J R A; Fiksinski, Ania; Vorstman, Jacob A S; Maeder, Johanna; Schneider, Maude; Eliez, Stephan; Armando, Marco; Pontillo, Maria; Vicari, Stefano; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Bearden, Carrie E; Shashi, Vandana; Hooper, Stephen R; Owen, Michael J; Gur, Raquel E; Wray, Naomi R; van den Bree, Marianne B M; Thapar, Anita; International 22q11.2 Deletion Syndrome Brain and Behavior ConsortiumFebruary 1, 2019Not Determined
29956456Create StudyThe relation of atypical antipsychotic use and stress with weight in individuals at clinical high risk for psychosis.Stress and health : journal of the International Society for the Investigation of StressHampton, Joya N; Trotman, Hanan D; Addington, Jean; Bearden, Carrie E; Cadenhead, Kristin S; Cannon, Tyrone D; Cornblatt, Barbara A; Mathalon, Daniel H; McGlashan, Thomas H; Tsuang, Ming T; Perkins, Diana O; Seidman, Larry J; Woods, Scott W; Walker, Elaine FDecember 2018Not Relevant
29895892Create StudyLarge-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.Molecular psychiatrySun, Daqiang; Ching, Christopher R K; Lin, Amy; Forsyth, Jennifer K; Kushan, Leila; Vajdi, Ariana; Jalbrzikowski, Maria; Hansen, Laura; Villalon-Reina, Julio E; Qu, Xiaoping; 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; Vorstman, Jacob; Fiksinski, Ania; Koops, Sanne; Ruparel, Kosha; Roalf, David R; Gur, Raquel E; Schmitt, J Eric; Simon, Tony J; Goodrich-Hunsaker, Naomi J; Durdle, Courtney A; Bassett, Anne S; Chow, Eva W C; Butcher, Nancy J; Vila-Rodriguez, Fidel; Doherty, Joanne; Cunningham, Adam; van den Bree, Marianne B M; Linden, David E J; Moss, Hayley; Owen, Michael J; Murphy, Kieran C; McDonald-McGinn, Donna M; Emanuel, Beverly; van Erp, Theo G M; Turner, Jessica A; Thompson, Paul M; Bearden, Carrie EAugust 2020Relevant
29729390Create StudyAdvances in microstructural diffusion neuroimaging for psychiatric disorders.NeuroImagePasternak O, Kelly S, Sydnor VJ, Shenton MENovember 2018Not Determined
29653094Create StudyBiotypes: The Tip of the Research Domain Criteria Iceberg.Biological psychiatry. Cognitive neuroscience and neuroimagingJalbrzikowski, Maria; Bearden, Carrie ENovember 1, 2016Not Determined
29376674Create StudyCognitive genomics: Searching for the genetic roots of neuropsychological functioning.NeuropsychologyBearden, Carrie E; Glahn, David CNovember 2017Relevant
29361080Create StudyDeletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular geneticsGuo, Tingwei; Diacou, Alexander; Nomaru, Hiroko; McDonald-McGinn, Donna M; Hestand, Matthew; Demaerel, Wolfram; Zhang, Liangtian; Zhao, Yingjie; Ujueta, Francisco; Shan, Jidong; Montagna, Cristina; Zheng, Deyou; Crowley, Terrence B; Kushan-Wells, Leila; Bearden, Carrie E; Kates, Wendy R; Gothelf, Doron; Schneider, Maude; Eliez, Stephan; Breckpot, Jeroen; Swillen, Ann; Vorstman, Jacob; Zackai, Elaine; Benavides Gonzalez, Felipe; Repetto, Gabriela M; Emanuel, Beverly S; Bassett, Anne S; Vermeesch, Joris R; Marshall, Christian R; Morrow, Bernice E; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior ConsortiaApril 2018Relevant
29025761Create StudyGenome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.Circulation. Cardiovascular geneticsGuo, Tingwei; Repetto, Gabriela M; McDonald McGinn, Donna M; Chung, Jonathan H; Nomaru, Hiroko; Campbell, Christopher L; Blonska, Anna; Bassett, Anne S; Chow, Eva W C; Mlynarski, Elisabeth E; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena; Schneider, Maude; Eliez, Stephan; Antonarakis, Stylianos E; Coleman, Karlene; Tomita-Mitchell, Aoy; Mitchell, Michael E; Digilio, M Cristina; Dallapiccola, Bruno; Marino, Bruno; Philip, Nicole; Busa, Tiffany; Kushan-Wells, Leila; Bearden, Carrie E; Piotrowicz, Małgorzata; Hawuła, Wanda; Roberts, Amy E; Tassone, Flora; Simon, Tony J; van Duin, Esther D A; van Amelsvoort, Thérèse A; Kates, Wendy R; Zackai, Elaine; Johnston, H Richard; Cutler, David J; Agopian, A J; Goldmuntz, Elizabeth; Mitchell, Laura E; Wang, Tao; Emanuel, Beverly S; Morrow, Bernice E; International 22q11.2 Consortium/Brain and Behavior Consortium*October 1, 2017Not Determined
28761081Create StudyA neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.Molecular psychiatryGur, R E; Bassett, A S; McDonald-McGinn, D M; Bearden, C E; Chow, E; Emanuel, B S; Owen, M; Swillen, A; Van den Bree, M; Vermeesch, J; Vorstman, J A S; Warren, S; Lehner, T; Morrow, BDecember 2017Relevant
28750581Create StudyRare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.The American journal of psychiatryBassett, Anne S; Lowther, Chelsea; Merico, Daniele; Costain, Gregory; Chow, Eva W C; van Amelsvoort, Therese; McDonald-McGinn, Donna; Gur, Raquel E; Swillen, Ann; Van den Bree, Marianne; Murphy, Kieran; Gothelf, Doron; Bearden, Carrie E; Eliez, Stephan; Kates, Wendy; Philip, Nicole; Sashi, Vandana; Campbell, Linda; Vorstman, Jacob; Cubells, Joseph; Repetto, Gabriela M; Simon, Tony; Boot, Erik; Heung, Tracy; Evers, Rens; Vingerhoets, Claudia; van Duin, Esther; Zackai, Elaine; Vergaelen, Elfi; Devriendt, Koen; Vermeesch, Joris R; Owen, Michael; Murphy, Clodagh; Michaelovosky, Elena; Kushan, Leila; Schneider, Maude; Fremont, Wanda; Busa, Tiffany; Hooper, Stephen; McCabe, Kathryn; Duijff, Sasja; Isaev, Karin; Pellecchia, Giovanna; Wei, John; Gazzellone, Matthew J; Scherer, Stephen W; Emanuel, Beverly S; Guo, Tingwei; Morrow, Bernice E; Marshall, Christian R; International 22q11.2DS Brain and Behavior ConsortiumNovember 2017Relevant
28536274Create StudyMapping 22q11.2 Gene Dosage Effects on Brain Morphometry.The Journal of neuroscience : the official journal of the Society for NeuroscienceLin A, Ching CRK, Vajdi A, Sun D, Jonas RK, Jalbrzikowski M, Kushan-Wells L, Pacheco Hansen L, Krikorian E, Gutman B, Dokoru D, Helleman G, Thompson PM, Bearden CEJune 2017Relevant
28426957Create StudyEmerging Global Initiatives in Neurogenetics: The Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) Consortium.NeuronBearden, Carrie E; Thompson, Paul MApril 2017Relevant
28383675Create StudyIntrinsic Connectivity Network-Based Classification and Detection of Psychotic Symptoms in Youth With 22q11.2 Deletions.Cerebral cortex (New York, N.Y. : 1991)Schreiner M, Forsyth JK, Karlsgodt KH, Anderson AE, Hirsh N, Kushan L, Uddin LQ, Mattiacio L, Coman IL, Kates WR, Bearden CEJune 2017Relevant
28367513Create StudyCategorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome.Biological psychiatry. Cognitive neuroscience and neuroimagingJalbrzikowski, Maria; Ahmed, Khwaja Hamzah; Patel, Arati; Jonas, Rachel; Kushan, Leila; Chow, Carolyn; Bearden, Carrie EJanuary 2017Relevant
28204757Create StudySubthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.Schizophrenia bulletinWeisman, Omri; Guri, Yael; Gur, Raquel E; McDonald-McGinn, Donna M; Calkins, Monica E; Tang, Sunny X; Emanuel, Beverly; Zackai, Elaine H; Eliez, Stephan; Schneider, Maude; Schaer, Marie; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; Shashi, Vandana; Hooper, Stephen R; Armando, Marco; Vicari, Stefano; Pontillo, Maria; Kushan, Leila; Jalbrzikowski, Maria; Bearden, Carrie E; Cubells, Joseph F; Ousley, Opal Y; Walker, Elaine F; Simon, Tony J; Stoddard, Joel; Niendam, Tara A; van den Bree, Marianne B M; Gothelf, Doron; International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeSeptember 2017Relevant
28190639Create StudyCharacterizing white matter changes in chronic schizophrenia: A free-water imaging multi-site study.Schizophrenia researchOestreich, Lena K L; Lyall, Amanda E; Pasternak, Ofer; Kikinis, Zora; Newell, Dominick T; Savadjiev, Peter; Bouix, Sylvain; Shenton, Martha E; Kubicki, Marek; Australian Schizophrenia Research Bank; Whitford, Thomas J; McCarthy-Jones, SimonNovember 2017Not Relevant
26509118Create StudyNeural mechanisms of response inhibition and impulsivity in 22q11.2 deletion carriers and idiopathic attention deficit hyperactivity disorder.NeuroImage. ClinicalMontojo, C A; Congdon, E; Hwang, L; Jalbrzikowski, M; Kushan, L; Vesagas, T K; Jonas, R K; Ventura, J; Bilder, R M; Bearden, C EJanuary 1, 2015Relevant
26201030Create StudyTranscriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder.PloS oneJalbrzikowski, Maria; Lazaro, Maria T; Gao, Fuying; Huang, Alden; Chow, Carolyn; Geschwind, Daniel H; Coppola, Giovanni; Bearden, Carrie EJanuary 1, 2015Relevant
25715178Create StudyCognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.JAMA psychiatryVorstman, Jacob A S; Breetvelt, Elemi J; Duijff, Sasja N; Eliez, Stephan; Schneider, Maude; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Shashi, Vandana; Hooper, Stephen R; Chow, Eva W C; Fung, Wai Lun Alan; Butcher, Nancy J; Young, Donald A; McDonald-McGinn, Donna M; Vogels, Annick; van Amelsvoort, Therese; Gothelf, Doron; Weinberger, Ronnie; Weizman, Abraham; Klaassen, Petra W J; Koops, Sanne; Kates, Wendy R; Antshel, Kevin M; Simon, Tony J; Ousley, Opal Y; Swillen, Ann; Gur, Raquel E; Bearden, Carrie E; Kahn, René S; Bassett, Anne S; International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeApril 2015Relevant
24577245Create StudyPsychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.The American journal of psychiatrySchneider, Maude; Debbané, Martin; Bassett, Anne S; Chow, Eva W C; Fung, Wai Lun Alan; van den Bree, Marianne; Owen, Michael; Murphy, Kieran C; Niarchou, Maria; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; McDonald-McGinn, Donna M; Gur, Raquel E; Zackai, Elaine H; Vorstman, Jacob; Duijff, Sasja N; Klaassen, Petra W J; Swillen, Ann; Gothelf, Doron; Green, Tamar; Weizman, Abraham; Van Amelsvoort, Therese; Evers, Laurens; Boot, Erik; Shashi, Vandana; Hooper, Stephen R; Bearden, Carrie E; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Murphy, Declan G; Ousley, Opal; Campbell, Linda E; Simon, Tony J; Eliez, Stephan; International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeJune 2014Relevant
24567911Create StudyDisrupted working memory circuitry and psychotic symptoms in 22q11.2 deletion syndrome.NeuroImage. ClinicalMontojo CA, Ibrahim A, Karlsgodt KH, Chow C, Hilton AE, Jonas RK, Vesagas TK, Bearden CEJanuary 1, 2014Relevant
24273724Create StudyStructural abnormalities in cortical volume, thickness, and surface area in 22q11.2 microdeletion syndrome: Relationship with psychotic symptoms.NeuroImage. ClinicalJalbrzikowski, Maria; Jonas, Rachel; Senturk, Damla; Patel, Arati; Chow, Carolyn; Green, Michael F; Bearden, Carrie EJanuary 1, 2013Relevant
24177988Create StudyNeural substrates of inhibitory control deficits in 22q11.2 deletion syndrome.Cerebral cortex (New York, N.Y. : 1991)Montojo, C A; Jalbrzikowski, M; Congdon, E; Domicoli, S; Chow, C; Dawson, C; Karlsgodt, K H; Bilder, R M; Bearden, C EApril 2015Relevant
23992925Create StudyThe 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.Biological psychiatryJonas, Rachel K; Montojo, Caroline A; Bearden, Carrie EMarch 2014Relevant
23912681Create StudyDefault mode network connectivity and reciprocal social behavior in 22q11.2 deletion syndrome.Social cognitive and affective neuroscienceSchreiner MJ, Karlsgodt KH, Uddin LQ, Chow C, Congdon E, Jalbrzikowski M, Bearden CESeptember 2014Relevant
23453669Create StudyEnhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.American journal of human geneticsDelio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M; Zackai, Elaine; Herman, Sean; Kaminetzky, Mark; Higgins, Anne Marie; Coleman, Karlene; Chow, Carolyn; Jalbrzikowski, Maria; Jarlbrzkowski, Maria; Bearden, Carrie E; Bailey, Alice; Vangkilde, Anders; Olsen, Line; Olesen, Charlotte; Skovby, Flemming; Werge, Thomas M; Templin, Ludivine; Busa, Tiffany; Philip, Nicole; Swillen, Ann; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Dahoun, Sophie; Eliez, Stephan; Schoch, Kelly; Hooper, Stephen R; Shashi, Vandana; Samanich, Joy; Marion, Robert; van Amelsvoort, Therese; Boot, Erik; Klaassen, Petra; Duijff, Sasja N; Vorstman, Jacob; Yuen, Tracy; Silversides, Candice; Chow, Eva; Bassett, Anne; Frisch, Amos; Weizman, Abraham; Gothelf, Doron; Niarchou, Maria; van den Bree, Marianne; Owen, Michael J; Suñer, Damian Heine; Andreo, Jordi Rosell; Armando, Marco; Vicari, Stefano; Digilio, Maria Cristina; Auton, Adam; Kates, Wendy R; Wang, Tao; Shprintzen, Robert J; Emanuel, Beverly S; Morrow, Bernice EMarch 2013Relevant
23122739Create StudySocial cognition in 22q11.2 microdeletion syndrome: relevance to psychosis?Schizophrenia researchJalbrzikowski, Maria; Carter, Chelsea; Senturk, Damla; Chow, Carolyn; Hopkins, Jessica M; Green, Michael F; Galván, Adriana; Cannon, Tyrone D; Bearden, Carrie EDecember 2012Relevant
23098994Create StudyConverging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome.NeuropharmacologySchreiner, Matthew J; Lazaro, Maria T; Jalbrzikowski, Maria; Bearden, Carrie EMay 2013Relevant
22962003Create StudyDeficits in mental state attributions in individuals with 22q11.2 deletion syndrome (velo-cardio-facial syndrome).Autism research : official journal of the International Society for Autism ResearchHo JS, Radoeva PD, Jalbrzikowski M, Chow C, Hopkins J, Tran WC, Mehta A, Enrique N, Gilbert C, Antshel KM, Fremont W, Kates WR, Bearden CEDecember 2012Relevant
21878355Create StudyGenetic influence on the working memory circuitry: behavior, structure, function and extensions to illness.Behavioural brain researchKarlsgodt KH, Bachman P, Winkler AM, Bearden CE, Glahn DCDecember 2011Relevant
21515140Create StudyClinical and genetic high-risk paradigms: converging paths to psychosis meet in the temporal lobes.Biological psychiatryJalbrzikowski M, Bearden CEMay 2011Relevant
helpcenter.collection.publications-tab

NDA Help Center

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.
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 ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Research Subject and Pedigree info icon
16504/08/2019
0
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 ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
ADOS info icon
16504/08/2019
0
Approved
ADI-R info icon
16504/08/2019
0
Approved
Social Responsiveness Scale (SRS) info icon
16506/01/2019
94
Approved
Social Communication Questionnaire (SCQ) info icon
16504/08/2019
20
Approved
Child Behavior Checklist (CBCL) info icon
16504/08/2019
20
Approved
Tanner Sexual Maturity Scale info icon
16504/08/2019
20
Approved
Screen for Childhood Anxiety Related Emotional Disorders (SCARED) info icon
16504/08/2019
71
Approved
Structured Clinical Interview for DSM (SCID) info icon
16504/08/2019
0
Approved
Daily Stress Inventory info icon
16510/01/2019
20
Approved
Prodromal Questionnaire info icon
16504/08/2019
2
Approved
Repetitive Behavior Scale - Revised (RBS-R) info icon
16504/08/2019
71
Approved
Sensory Profile info icon
16504/08/2019
71
Approved
Behavior Rating Inventory of Executive Function (BRIEF) info icon
16504/08/2019
70
Approved
Brief Psychiatric Rating Scale info icon
16504/08/2019
79
Approved
Structured Interview for Prodromal Syndromes/Scale of Prodromal Symptoms info icon
16504/08/2019
95
Approved
Youth Self Report info icon
16504/08/2019
38
Approved
Barratt Impulsivity Scale info icon
16504/08/2019
20
Approved
Blood Sample Collection info icon
16504/08/2019
0
Approved
Adult ADHD Self-Report Scale info icon
16504/08/2019
37
Approved
Global Functioning Scales info icon
16504/08/2019
1
Approved
Risk Beliefs Questionnaire info icon
16510/01/2019
20
Approved
Structure not yet defined
No Status history for this Data Expected has been recorded yet
helpcenter.collection.data-expected-tab

NDA Help Center

Collection - Data Expected

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

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

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.

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

Associated Studies

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

Study NameAbstractCollection/Study SubjectsData UsageState
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NDA Help Center

Collection - Associated Studies

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

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

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

Frequently Asked Questions

  • 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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