NIMH Data Archive - Data

Genomics

Neuroimaging

Phenotype¹

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Clinical Trial

¹ Numbers reported are subjects by age

New Project
Grant/Project Number

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

Collection - Use Existing Experiment

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

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

Select	Experiment Id	Experiment Name	Experiment Type	Created On

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

Collection - Add Experiment

Add Supporting Documentation

Funding Source:
URL:

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

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

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

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Autism Genetics, Phase II: Increasing Representation of Human Diversity #2035

General
Experiments (8)
Shared Data
Publications (81)
Data Expected (17)
Associated Studies (4)

Collection Title	Collection Investigators	Collection Description
Collection Title:	Autism Genetics, Phase II: Increasing Representation of Human Diversity
Collection Investigators:	Daniel Geschwind
Collection Description:	Autism Spectrum Disorder (ASD) is a common, often devastating neuropsychiatric condition with largely unknown pathophysiology. Although ASD has a multifactorial etiology, it encompasses a large genetic component. The investigators in this proposal aim to continue and enhance our collaborative effort that has produced significant advances in our understanding of ASD over the last four years and generated highly successful, open data and biomaterials resources for the research community, the NIMH Genetics Initiative and the Autism Genetic Resource Exchange (AGRE). Our Network has met or exceeded our original aims. We have built patient resources for research, identified rare and common ASD susceptibility alleles, defined models of ASD genetic susceptibility, provided evidence for convergent pathophysiology, and led development of animal and cell culture models. Here we propose to take a major new direction, filling a significant gap in ASD research, by recruiting underserved subjects of self-reported African ancestry (African-American; AA), an important population that has not previously been well-represented in ASD genetics research. Our Network involves six research sites and the AGRE DCC, collaborating in a systematic, comprehensive investigation of ASD genetics in order to identify rare mutations, chromosomal abnormalities, and common variation contributing to ASD susceptibility in the AA population. Specifically, we will enrich existing resources by recruiting at least 600 AA probands and additional family members. Our recruitment plan includes an embedded health disparities project that will evaluate access to care for AAs with ASD and clarify factors influencing participation of AA individuals in genetic research. We will employ novel methods to define the ancestral origin of specific chromosomal segments and ascertain the background on which susceptibility alleles occur. We will perform follow up GWA on ASD-related endophenotypes or co-variates, such as language delay, sex and head circumference. In parallel, we will conduct whole exome sequencing (WES) and analysis of copy number variation (CNV) using 2.5M SNP arrays yielding high resolution molecular karyotypes and providing a resource on genome-wide CNV and coding sequence variation (SNV) in ASD. Gene expression profiling and network analysis will be used to prioritize variants. Genetic risk factors identified in the mostly European samples will be tested for association in the AA sample to determine whether these cohorts share the same genetic risk factors, using a sample size providing power to replicate previous associations and to identify rare, recurrent CNV and SNV. The observation of new forms or different population frequencies of ASD-related variation in this sample as well as the sharing of most CNV and SNV with other cohorts are both outcomes that will have great significance for future studies and clinical care. As has been our practice, our Network will make all phenotypic and genotype data accessible via the internet on a rolling basis, further enhancing the value of this resource to the community. In addition to the behavioral and genomic data in our NDA collection, whole-genome sequence generated for our cohort in collaboration with the Center for Common Disease Genomics (CCDG) can be found via dbGaP study accession number phs002042.v1.p1 and will be distributed through AnVIL (https://anvilproject.org/data).
Data Repository:	NIMH Data Archive
Permission Group:
Collection Creation Date:	05/31/2013
NIH Research Initiatives:	Autism Centers of Excellence (ACE), NIMH Repository & Genomics Resource (NRGR)
Collection Phase:	Funding Completed
Collection Sub-Phase:	Close Out
Blinded Clinical Trial:	No
Total Funded Amount:	$3,168,451.00
Subjects Shared:	5,113

{"values":[]}

{"values":[["Autism Spectrum Affected",70],["Autism Spectrum Severely Affected",121],["Autism Spectrum Mildly Affected",8],["Parental Control",236],["Sibling Control",73],["Typical Control",1]]}

Loading Chart...

Funding Sources:

Funding Source Name	Funding Source URL
NIH - Extramural	None

Supporting Documentation:

Grant Information:

Project Number	Project Title	Start Date	End Date	Planned Enrollment	Actual Enrollment	Organization	Funds Obligated
R01MH100027-06	Autism Genetics, Phase II: Increasing Representation of Human Diversity	03/25/2013	02/28/2018	3360	1870	UNIVERSITY OF CALIFORNIA LOS ANGELES	$3,168,451.00

Clinical Trials:

helpcenter.collection.general-tab

Collection - General Tab

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

Collection Title
Investigators
Collection Description
Collection Phase
Funding Source
Clinical Trials

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

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

Blinded Clinical Trial Status:

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

Funding Source

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

Supporting Documentation

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

Grant Information

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

Clinical Trials

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

Frequently Asked Questions

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

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

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

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

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

Glossary

Administrator Privilege

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

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

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

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

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

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

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

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

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

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

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

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

Contact NDA Help Desk

ID	Name	Created Date	Status	Type
321	Omni2.5-8	06/10/2015	Approved	Omics
326	2013-489 targeted linkage peaks	06/12/2015	Approved	Omics
474	Single All AGRE, MBV33-10 (CHOP)	06/07/2016	Approved	Omics
475	MB1-10 (CHOP)	06/07/2016	Approved	Omics
517	Exomes 2014-407_UCLA; 2014-207_UCSF; 2016-9123	11/05/2016	Approved	Omics
1712	Whole-genome sequence (CCDG)	03/15/2021	Approved	Omics
1830	Illumina Global Screening Array	08/02/2021	Approved	Omics
1980	Whole-exome sequence: Kapa HyperPrep, SeqCAP EZ Human Exome v3	03/24/2022	Approved	Omics

helpcenter.collection.experiments-tab

Collection - Experiments

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

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

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

Frequently Asked Questions

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

Glossary

Experiment Status

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

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

Contact NDA Help Desk

Shared Data:

Title	Type	Number of Subjects
ACE Family Medical History	Clinical Assessments	452
ACE Subject Physical Exam	Clinical Assessments	445
Diagnostic Odyssey Instrument	Clinical Assessments	479
Genomics Genetic Test	Genomics	185
Genomics Sample	Genomics	4483
Genomics Subject	Genomics	4483
Mullen Scales of Early Learning	Clinical Assessments	20
Peabody Picture Vocabulary Test, Fourth Edition-Form A	Clinical Assessments	89
Ravens Coloured Progressive Matrices (CPM)	Clinical Assessments	275
Ravens Standard Progressive Matrices	Clinical Assessments	499
Research Subject	Clinical Assessments	1571
SRS-2. Adult, Preschool and School Age	Clinical Assessments	974
Social Communication Questionnaire (SCQ) - Current Form	Clinical Assessments	51
Social Communication Questionnaire (SCQ) - Lifetime	Clinical Assessments	478
Vineland-II - Survey Form (2005)	Clinical Assessments	445

helpcenter.collection.shared-data-tab

Collection - Shared Data

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

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

Frequently Asked Questions

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

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

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

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

Glossary

Data Structure

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

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

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

Contact NDA Help Desk

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

Publications

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

PubMed ID	Study	Title	Journal	Authors	Date	Status
38699304	Create Study	Contribution of autosomal rare and de novo variants to sex differences in autism.	medRxiv : the preprint server for health sciences	Koko, Mahmoud; Kyle Satterstrom, F; Autism Sequencing Consortium; APEX consortium; Warrier, Varun; Martin, Hilary	April 16, 2024	Not Determined
37506195	Create Study	The contributions of rare inherited and polygenic risk to ASD in multiplex families.	Proceedings of the National Academy of Sciences of the United States of America	Cirnigliaro, Matilde; Chang, Timothy S; Arteaga, Stephanie A; Pérez-Cano, Laura; Ruzzo, Elizabeth K; Gordon, Aaron; Bicks, Lucy K; Jung, Jae-Yoon; Lowe, Jennifer K; Wall, Dennis P; Geschwind, Daniel H	August 1, 2023	Not Determined
37196781	Create Study	Prospects for Leveling the Playing Field for Black Children With Autism.	Journal of the American Academy of Child and Adolescent Psychiatry	Constantino, John N; Abbacchi, Anna M; May, Brandon K; Klaiman, Cheryl; Zhang, Yi; Lowe, Jennifer K; Marrus, Natasha; Klin, Ami; Geschwind, Daniel H	September 1, 2023	Not Determined
37101120	Create Study	Priors, population sizes, and power in genome-wide hypothesis tests.	BMC bioinformatics	Cai, Jitong; Zhan, Jianan; Arking, Dan E; Bader, Joel S	April 26, 2023	Not Determined
36829214	Create Study	Sex differences in friendships and loneliness in autistic and non-autistic children across development.	Molecular autism	Libster, Natalie; Knox, Azia; Engin, Selin; Geschwind, Daniel; Parish-Morris, Julia; Kasari, Connie	February 24, 2023	Not Determined
36566252	Create Study	Personal victimization experiences of autistic and non-autistic children.	Molecular autism	Libster, Natalie; Knox, Azia; Engin, Selin; Geschwind, Daniel; Parish-Morris, Julia; Kasari, Connie	December 24, 2022	Not Determined
36517753	Create Study	Social attention during object engagement: toward a cross-species measure of preferential social orienting.	Journal of neurodevelopmental disorders	Weichselbaum, Claire; Hendrix, Nicole; Albright, Jordan; Dougherty, Joseph D; Botteron, Kelly N; Constantino, John N; Marrus, Natasha	December 14, 2022	Not Determined
36311265	Create Study	Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.	HGG advances	Pillalamarri, Vamsee; Shi, Wen; Say, Conrad; Yang, Stephanie; Lane, John; Guallar, Eliseo; Pankratz, Nathan; Arking, Dan E	January 12, 2023	Not Determined
36280734	Create Study	Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.	Nature genetics	Weiner, Daniel J; Ling, Emi; Erdin, Serkan; Tai, Derek J C; Yadav, Rachita; Grove, Jakob; Fu, Jack M; Nadig, Ajay; Carey, Caitlin E; Baya, Nikolas; Bybjerg-Grauholm, Jonas; iPSYCH Consortium; ASD Working Group of the Psychiatric Genomics Consortium; ADHD Working Group of the Psychiatric Genomics Consortium; Berretta, Sabina; Macosko, Evan Z; Sebat, Jonathan; O'Connor, Luke J; Hougaard, David M; Børglum, Anders D; Talkowski, Michael E; McCarroll, Steven A; Robinson, Elise B	November 1, 2022	Not Determined
36183905	Create Study	Challenges and opportunities for precision medicine in neurodevelopmental disorders.	Advanced drug delivery reviews	Chen, George T; Geschwind, Daniel H	December 1, 2022	Not Determined
35982160	Create Study	Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.	Nature genetics	Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E	September 1, 2022	Not Determined
35591888	Create Study	A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data.	NAR genomics and bioinformatics	Battle, Stephanie L; Puiu, Daniela; TOPMed mtDNA Working Group; Verlouw, Joost; Broer, Linda; Boerwinkle, Eric; Taylor, Kent D; Rotter, Jerome I; Rich, Stephan S; Grove, Megan L; Pankratz, Nathan; Fetterman, Jessica L; Liu, Chunyu; Arking, Dan E	June 1, 2022	Not Determined
34932941	Create Study	Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse.	Neuron	Choe, Katrina Y; Bethlehem, Richard A I; Safrin, Martin; Dong, Hongmei; Salman, Elena; Li, Ying; Grinevich, Valery; Golshani, Peyman; DeNardo, Laura A; Peñagarikano, Olga; Harris, Neil G; Geschwind, Daniel H	March 2, 2022	Not Determined
34859289	Create Study	Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.	Human genetics	Longchamps, R J; Yang, S Y; Castellani, C A; Shi, W; Lane, J; Grove, M L; Bartz, T M; Sarnowski, C; Liu, C; Burrows, K; Guyatt, A L; Gaunt, T R; Kacprowski, T; Yang, J; De Jager, P L; Yu, L; Bergman, A; Xia, R; Fornage, M; Feitosa, M F; Wojczynski, M K; Kraja, A T; Province, M A; Amin, N; Rivadeneira, F; Tiemeier, H; Uitterlinden, A G; Broer, L; Van Meurs, J B J; Van Duijn, C M; Raffield, L M; Lange, L; Rich, S S; Lemaitre, R N; Goodarzi, M O; Sitlani, C M; Mak, A C Y; Bennett, D A; Rodriguez, S; Murabito, J M; Lunetta, K L; Sotoodehnia, N; Atzmon, G; Ye, K; Barzilai, N; Brody, J A; Psaty, B M; Taylor, K D; Rotter, J I; Boerwinkle, E; Pankratz, N; Arking, D E	January 1, 2022	Not Determined
34663447	Create Study	Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.	Genome medicine	Yousefi, Soheil; Deng, Ruizhi; Lanko, Kristina; Salsench, Eva Medico; Nikoncuk, Anita; van der Linde, Herma C; Perenthaler, Elena; van Ham, Tjakko J; Mulugeta, Eskeatnaf; Barakat, Tahsin Stefan	October 19, 2021	Not Determined
34553489	Create Study	Rethinking autism spectrum disorder assessment for children during COVID-19 and beyond.	Autism research : official journal of the International Society for Autism Research	Zwaigenbaum, Lonnie; Bishop, Somer; Stone, Wendy L; Ibanez, Lisa; Halladay, Alycia; Goldman, Sylvie; Kelly, Amy; Klaiman, Cheryl; Lai, Meng-Chuan; Miller, Meghan; Saulnier, Celine; Siper, Paige; Sohl, Kristin; Warren, Zachary; Wetherby, Amy	November 1, 2021	Not Determined
34313757	Create Study	Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment.	Human molecular genetics	Eyring, Katherine W; Geschwind, Daniel H	October 1, 2021	Not Determined
34172755	Create Study	Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders.	Nature communications	Hu, Benxia; Won, Hyejung; Mah, Won; Park, Royce B; Kassim, Bibi; Spiess, Keeley; Kozlenkov, Alexey; Crowley, Cheynna A; Pochareddy, Sirisha; PsychENCODE Consortium; Li, Yun; Dracheva, Stella; Sestan, Nenad; Akbarian, Schahram; Geschwind, Daniel H	June 25, 2021	Not Determined
33272361	Create Study	Polygenicity in Psychiatry-Like It or Not, We Have to Understand It.	Biological psychiatry	Gandal, Michael J; Geschwind, Daniel H	January 1, 2021	Not Determined
33009972	Create Study	Visual Traces of Language Acquisition in Toddlers with Autism Spectrum Disorder During the Second Year of Life.	Journal of autism and developmental disorders	Habayeb, Serene; Tsang, Tawny; Saulnier, Celine; Klaiman, Cheryl; Jones, Warren; Klin, Ami; Edwards, Laura A	July 1, 2021	Not Determined
32839243	Create Study	Timing of the Diagnosis of Autism in African American Children.	Pediatrics	Constantino, John N; Abbacchi, Anna M; Saulnier, Celine; Klaiman, Cheryl; Mandell, David S; Zhang, Yi; Hawks, Zoe; Bates, Julianna; Klin, Ami; Shattuck, Paul; Molholm, Sophie; Fitzgerald, Robert; Roux, Anne; Lowe, Jennifer K; Geschwind, Daniel H	September 2020	Not Determined
32634676	Create Study	Functional genomics links genetic origins to pathophysiology in neurodegenerative and neuropsychiatric disease.	Current opinion in genetics & development	Wamsley, Brie; Geschwind, Daniel H	December 1, 2020	Not Determined
32027831	Create Study	High-Risk, High-Reward Genetics in ASD.	Neuron	Castellani, Christina A; Arking, Dan E	February 5, 2020	Not Determined
31835028	Create Study	Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.	Cell	Cross-Disorder Group of the Psychiatric Genomics Consortium. Electronic address: plee0@mgh.harvard.edu; Cross-Disorder Group of the Psychiatric Genomics Consortium	December 12, 2019	Not Determined
31626773	Create Study	Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.	Cell	Walker, Rebecca L; Ramaswami, Gokul; Hartl, Christopher; Mancuso, Nicholas; Gandal, Michael J; de la Torre-Ubieta, Luis; Pasaniuc, Bogdan; Stein, Jason L; Geschwind, Daniel H	October 17, 2019	Not Determined
31548702	Create Study	A framework for the investigation of rare genetic disorders in neuropsychiatry.	Nature medicine	Sanders, 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 E	October 1, 2019	Not Determined
31303374	Create Study	A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation.	Neuron	Polioudakis, Damon; de la Torre-Ubieta, Luis; Langerman, Justin; Elkins, Andrew G; Shi, Xu; Stein, Jason L; Vuong, Celine K; Nichterwitz, Susanne; Gevorgian, Melinda; Opland, Carli K; Lu, Daning; Connell, William; Ruzzo, Elizabeth K; Lowe, Jennifer K; Hadzic, Tarik; Hinz, Flora I; Sabri, Shan; Lowry, William E; Gerstein, Mark B; Plath, Kathrin; Geschwind, Daniel H	September 2019	Not Determined
31202490	Create Study	Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.	Biological psychiatry	Woo, Young Jae; Kanellopoulos, Alexandros K; Hemati, Parisa; Kirschen, Jill; Nebel, Rebecca A; Wang, Tao; Bagni, Claudia; Abrahams, Brett S	August 2019	Not Determined
31160561	Create Study	Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility.	Nature communications	Won, Hyejung; Huang, Jerry; Opland, Carli K; Hartl, Chris L; Geschwind, Daniel H	June 3, 2019	Not Determined
31150625	Create Study	Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice.	Cell	Sharon, Gil; Cruz, Nikki Jamie; Kang, Dae-Wook; Gandal, Michael J; Wang, Bo; Kim, Young-Mo; Zink, Erika M; Casey, Cameron P; Taylor, Bryn C; Lane, Christianne J; Bramer, Lisa M; Isern, Nancy G; Hoyt, David W; Noecker, Cecilia; Sweredoski, Michael J; Moradian, Annie; Borenstein, Elhanan; Jansson, Janet K; Knight, Rob; Metz, Thomas O; Lois, Carlos; Geschwind, Daniel H; Krajmalnik-Brown, Rosa; Mazmanian, Sarkis K	May 2019	Not Determined
31056284	Create Study	Selenium Drives a Transcriptional Adaptive Program to Block Ferroptosis and Treat Stroke.	Cell	Alim I, Caulfield JT, Chen Y, Swarup V, Geschwind DH, Ivanova E, Seravalli J, Ai Y, Sansing LH, Ste Marie EJ, Hondal RJ, Mukherjee S, Cave JW, Sagdullaev BT, Karuppagounder SS, Ratan RR	May 2019	Not Determined
30901538	Create Study	Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders.	Cell	Sullivan, Patrick F; Geschwind, Daniel H	March 2019	Not Determined
30545856	Create Study	Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.	Science (New York, N.Y.)	Gandal, Michael J; Zhang, Pan; Hadjimichael, Evi; Walker, Rebecca L; Chen, Chao; Liu, Shuang; Won, Hyejung; van Bakel, Harm; Varghese, Merina; Wang, Yongjun; Shieh, Annie W; Haney, Jillian; Parhami, Sepideh; Belmont, Judson; Kim, Minsoo; Moran Losada, Patricia; Khan, Zenab; Mleczko, Justyna; Xia, Yan; Dai, Rujia; Wang, Daifeng; Yang, Yucheng T; Xu, Min; Fish, Kenneth; Hof, Patrick R; Warrell, Jonathan; Fitzgerald, Dominic; White, Kevin; Jaffe, Andrew E; PsychENCODE Consortium; Peters, Mette A; Gerstein, Mark; Liu, Chunyu; Iakoucheva, Lilia M; Pinto, Dalila; Geschwind, Daniel H	December 2018	Not Relevant
30111840	Create Study	Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.	Nature	Parras, Alberto; Anta, Héctor; Santos-Galindo, María; Swarup, Vivek; Elorza, Ainara; Nieto-González, José L; Picó, Sara; Hernández, Ivó H; Díaz-Hernández, Juan I; Belloc, Eulàlia; Rodolosse, Annie; Parikshak, Neelroop N; Peñagarikano, Olga; Fernández-Chacón, Rafael; Irimia, Manuel; Navarro, Pilar; Geschwind, Daniel H; Méndez, Raúl; Lucas, José J	August 2018	Not Relevant
30008175	Create Study	Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.	Molecular genetics & genomic medicine	Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA	September 2018	Not Relevant
29930110	Create Study	Analysis of shared heritability in common disorders of the brain.	Science (New York, N.Y.)	Brainstorm Consortium; Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K; Walters, Raymond K; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A; Ripke, Stephan; Wei, Zhi; Yu, Dongmei; Lee, Phil H; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; Letenneur, Luc; Hannequin, Didier; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Duron, Emmanuelle; Vardarajan, Badri N; Reitz, Christiane; Goate, Alison M; Huentelman, Matthew J; Kamboh, M Ilyas; Larson, Eric B; Rogaeva, Ekaterina; St George-Hyslop, Peter; Hakonarson, Hakon; Kukull, Walter A; Farrer, Lindsay A; Barnes, Lisa L; Beach, Thomas G; Demirci, F Yesim; Head, Elizabeth; Hulette, Christine M; Jicha, Gregory A; Kauwe, John S K; Kaye, Jeffrey A; Leverenz, James B; Levey, Allan I; Lieberman, Andrew P; Pankratz, Vernon S; Poon, Wayne W; Quinn, Joseph F; Saykin, Andrew J; Schneider, Lon S; Smith, Amanda G; Sonnen, Joshua A; Stern, Robert A; Van Deerlin, Vivianna M; Van Eldik, Linda J; Harold, Denise; Russo, Giancarlo; Rubinsztein, David C; Bayer, Anthony; Tsolaki, Magda; Proitsi, Petra; Fox, Nick C; Hampel, Harald; Owen, Michael J; Mead, Simon; Passmore, Peter; Morgan, Kevin; Nöthen, Markus M; Rossor, Martin; Lupton, Michelle K; Hoffmann, Per; Kornhuber, Johannes; Lawlor, Brian; McQuillin, Andrew; Al-Chalabi, Ammar; Bis, Joshua C; Ruiz, Agustin; Boada, Mercè; Seshadri, Sudha; Beiser, Alexa; Rice, Kenneth; van der Lee, Sven J; De Jager, Philip L; Geschwind, Daniel H; Riemenschneider, Matthias; Riedel-Heller, Steffi; Rotter, Jerome I; Ransmayr, Gerhard; Hyman, Bradley T; Cruchaga, Carlos; Alegret, Montserrat; Winsvold, Bendik; Palta, Priit; Farh, Kai-How; Cuenca-Leon, Ester; Furlotte, Nicholas; Kurth, Tobias; Ligthart, Lannie; Terwindt, Gisela M; Freilinger, Tobias; Ran, Caroline; Gordon, Scott D; Borck, Guntram; Adams, Hieab H H; Lehtimäki, Terho; Wedenoja, Juho; Buring, Julie E; Schürks, Markus; Hrafnsdottir, Maria; Hottenga, Jouke-Jan; Penninx, Brenda; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Martin, Nicholas G; Montgomery, Grant W; Kurki, Mitja I; Hämäläinen, Eija; Huang, Hailiang; Huang, Jie; Sandor, Cynthia; Webber, Caleb; Muller-Myhsok, Bertram; Schreiber, Stefan; Salomaa, Veikko; Loehrer, Elizabeth; Göbel, Hartmut; Macaya, Alfons; Pozo-Rosich, Patricia; Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Metspalu, Andres; Kubisch, Christian; Ferrari, Michel D; Belin, Andrea C; van den Maagdenberg, Arn M J M; Zwart, John-Anker; Boomsma, Dorret; Eriksson, Nicholas; Olesen, Jes; Chasman, Daniel I; Nyholt, Dale R; Avbersek, Andreja; Baum, Larry; Berkovic, Samuel; Bradfield, Jonathan; Buono, Russell J; Catarino, Claudia B; Cossette, Patrick; De Jonghe, Peter; Depondt, Chantal; Dlugos, Dennis; Ferraro, Thomas N; French, Jacqueline; Hjalgrim, Helle; Jamnadas-Khoda, Jennifer; Kälviäinen, Reetta; Kunz, Wolfram S; Lerche, Holger; Leu, Costin; Lindhout, Dick; Lo, Warren; Lowenstein, Daniel; McCormack, Mark; Møller, Rikke S; Molloy, Anne; Ng, Ping-Wing; Oliver, Karen; Privitera, Michael; Radtke, Rodney; Ruppert, Ann-Kathrin; Sander, Thomas; Schachter, Steven; Schankin, Christoph; Scheffer, Ingrid; Schoch, Susanne; Sisodiya, Sanjay M; Smith, Philip; Sperling, Michael; Striano, Pasquale; Surges, Rainer; Thomas, G Neil; Visscher, Frank; Whelan, Christopher D; Zara, Federico; Heinzen, Erin L; Marson, Anthony; Becker, Felicitas; Stroink, Hans; Zimprich, Fritz; Gasser, Thomas; Gibbs, Raphael; Heutink, Peter; Martinez, Maria; Morris, Huw R; Sharma, Ma (see original citation for additional authors)	June 22, 2018	Not Determined
29439242	Create Study	Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.	Science (New York, N.Y.)	Gandal, Michael J; Haney, Jillian R; Parikshak, Neelroop N; Leppa, Virpi; Ramaswami, Gokul; Hartl, Chris; Schork, Andrew J; Appadurai, Vivek; Buil, Alfonso; Werge, Thomas M; Liu, Chunyu; White, Kevin P; CommonMind Consortium; PsychENCODE Consortium; iPSYCH-BROAD Working Group; Horvath, Steve; Geschwind, Daniel H	February 2018	Not Relevant
29307494	Create Study	The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis.	Cell	de la Torre-Ubieta, Luis; Stein, Jason L; Won, Hyejung; Opland, Carli K; Liang, Dan; Lu, Daning; Geschwind, Daniel H	January 2018	Not Relevant
29066808	Create Study	Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder.	Nature communications	Andrews, Shan V; Ellis, Shannon E; Bakulski, Kelly M; Sheppard, Brooke; Croen, Lisa A; Hertz-Picciotto, Irva; Newschaffer, Craig J; Feinberg, Andrew P; Arking, Dan E; Ladd-Acosta, Christine; Fallin, M Daniele	October 24, 2017	Not Determined
29057378	Create Study	Systems biology in the central nervous system: a brief perspective on essential recent advancements.	Current opinion in systems biology	Dougherty, Joseph D; Yang, Chengran; Lake, Allison M	June 2017	Not Relevant
29020636	Create Study	Self-Organized Cerebral Organoids with Human-Specific Features Predict Effective Drugs to Combat Zika Virus Infection.	Cell reports	Watanabe M, Buth JE, Vishlaghi N, De La Torre-Ubieta L, Taxidis J, Khakh BS, Coppola G, Pearson CA, Yamauchi K, Gong D, Dai X, Damoiseaux R, Aliyari R, Liebscher S, Schenke-Layland K, Caneda C, Huang EJ, Zhang Y, Cheng G, Geschwind DH, Golshani P, Sun R, Novitch BG	October 2017	Not Relevant
28540026	Create Study	Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.	Molecular autism	Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium	January 1, 2017	Not Determined
28533516	Create Study	ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains.	Molecular psychiatry	Cantor, R M; Navarro, L; Won, H; Walker, R L; Lowe, J K; Geschwind, D H	April 2018	Relevant
28504703	Create Study	Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.	Nature genetics	Weiner, Daniel J; Wigdor, Emilie M; Ripke, Stephan; Walters, Raymond K; Kosmicki, Jack A; Grove, Jakob; Samocha, Kaitlin E; Goldstein, Jacqueline I; Okbay, Aysu; Bybjerg-Grauholm, Jonas; Werge, Thomas; Hougaard, David M; Taylor, Jacob; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group; Skuse, David; Devlin, Bernie; Anney, Richard; Sanders, Stephan J; Bishop, Somer; Mortensen, Preben Bo; Børglum, Anders D; Smith, George Davey; Daly, Mark J; Robinson, Elise B	July 1, 2017	Not Determined
28316770	Create Study	Exaggerated CpH methylation in the autism-affected brain.	Molecular autism	Ellis, Shannon E; Gupta, Simone; Moes, Anna; West, Andrew B; Arking, Dan E	January 2017	Not Relevant
27919067	Create Study	Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.	Nature	Parikshak, Neelroop N; Swarup, Vivek; Belgard, T Grant; Irimia, Manuel; Ramaswami, Gokul; Gandal, Michael J; Hartl, Christopher; Leppa, Virpi; Ubieta, Luis de la Torre; Huang, Jerry; Lowe, Jennifer K; Blencowe, Benjamin J; Horvath, Steve; Geschwind, Daniel H	December 2016	Not Relevant
27814521	Create Study	The Central Nervous System and the Gut Microbiome.	Cell	Sharon, Gil; Sampson, Timothy R; Geschwind, Daniel H; Mazmanian, Sarkis K	November 2016	Not Relevant
27760116	Create Study	Chromosome conformation elucidates regulatory relationships in developing human brain.	Nature	Won H, De La Torre-Ubieta L, Stein JL, Parikshak NN, Huang J, Opland CK, Gandal MJ, Sutton GJ, Hormozdiari F, Lu D, Lee C, Eskin E, Voineagu I, Ernst J, Geschwind DH	October 2016	Not Relevant
27677376	Create Study	Dexmedetomidine protects against glucocorticoid induced progenitor cell apoptosis in neonatal mouse cerebellum.	The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians	O'Connor, Shawn David; Cabrera, Omar Hoseá; Dougherty, Joseph D; Singh, Sukrit; Swiney, Brant Stephen; Salinas-Contreras, Patricia; Farber, Nuri Bradford; Noguchi, Kevin Kiyoshi	September 2017	Not Relevant
27569545	Study (393)	Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.	American journal of human genetics	Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese; Andrieux, Joris; Le Caignec, Cedric; Martin-Coignard, Dominique; DyBuncio, Christina; Sanders, Stephan J; Lowe, Jennifer K; Cantor, Rita M; Geschwind, Daniel H	September 2016	Relevant
27351196	Create Study	A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus.	PloS one	Woo, Young Jae; Wang, Tao; Guadalupe, Tulio; Nebel, Rebecca A; Vino, Arianna; Del Bene, Victor A; Molholm, Sophie; Ross, Lars A; Zwiers, Marcel P; Fisher, Simon E; Foxe, John J; Abrahams, Brett S	January 1, 2016	Not Determined
27219343	Create Study	Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia.	Translational psychiatry	Ellis, S E; Panitch, R; West, A B; Arking, D E	May 2016	Not Relevant
26998600	Create Study	Schizophrenia genetics complements its mechanistic understanding.	Nature neuroscience	Ruzzo, Elizabeth K; Geschwind, Daniel H	April 2016	Not Relevant
26892004	Create Study	Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.	Nature communications	Werling DM, Parikshak NN, Geschwind DH	2016	Not Relevant
26824476	Create Study	Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks.	PloS one	Nebel, Rebecca A; Zhao, Dejian; Pedrosa, Erika; Kirschen, Jill; Lachman, Herbert M; Zheng, Deyou; Abrahams, Brett S	2016	Not Relevant
26627310	Create Study	JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.	Neuron	Berg, Jamee M; Lee, Changhoon; Chen, Leslie; Galvan, Laurie; Cepeda, Carlos; Chen, Jane Y; Peñagarikano, Olga; Stein, Jason L; Li, Alvin; Oguro-Ando, Asami; Miller, Jeremy A; Vashisht, Ajay A; Starks, Mary E; Kite, Elyse P; Tam, Eric; Gdalyahu, Amos; Al-Sharif, Noor B; Burkett, Zachary D; White, Stephanie A; Fears, Scott C; Levine, Michael S; Wohlschlegel, James A; Geschwind, Daniel H	December 16, 2015	Not Relevant
26590343	Create Study	Correspondence between Resting-State Activity and Brain Gene Expression.	Neuron	Wang GZ, Belgard TG, Mao D, Chen L, Berto S, Preuss TM, Lu H, Geschwind DH, Konopka G	November 18, 2015	Not Relevant
26500678	Create Study	Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders.	Frontiers in genetics	Kopp, Nathan; Climer, Sharlee; Dougherty, Joseph D	2015	Not Relevant
26404826	Create Study	Genetics and genomics of psychiatric disease.	Science (New York, N.Y.)	Geschwind DH, Flint J	September 25, 2015	Not Relevant
26149713	Create Study	Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders.	Nature reviews. Genetics	Parikshak, Neelroop N; Gandal, Michael J; Geschwind, Daniel H	August 2015	Not Relevant
26076356	Create Study	Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.	PloS one	Nebel, Rebecca A; Kirschen, Jill; Cai, Jinlu; Woo, Young Jae; Cherian, Koshi; Abrahams, Brett S	2015	Not Relevant
25973164	Create Study	Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins.	Molecular autism	Werling DM, Geschwind DH	2015	Relevant
25891009	Create Study	Gene hunting in autism spectrum disorder: on the path to precision medicine.	The Lancet. Neurology	Geschwind, Daniel H; State, Matthew W	November 2015	Not Relevant
25789151	Create Study	Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders.	Molecular autism	Ouwenga, Rebecca L; Dougherty, Joseph	January 2015	Not Relevant
25727539	Create Study	Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8.	The American journal of psychiatry	Lowe JK, Werling DM, Constantino JN, Cantor RM, Geschwind DH	March 1, 2015	Relevant
25682262	Create Study	The RNA-binding protein Celf6 is highly expressed in diencephalic nuclei and neuromodulatory cell populations of the mouse brain.	Brain structure & function	Maloney, Susan E; Khangura, Eakta; Dougherty, Joseph D	February 15, 2015	Not Relevant
25599223	Create Study	Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.	Nature neuroscience	Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium	February 1, 2015	Not Determined
25494366	Create Study	Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.	Nature communications	Gupta S, Ellis SE, Ashar FN, Moes A, Bader JS, Zhan J, West AB, Arking DE	2014	Not Relevant
25360157	Create Study	Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.	Genome medicine	Tian, Yuan; Voineagu, Irina; Paşca, Sergiu P; Won, Hyejung; Chandran, Vijayendran; Horvath, Steve; Dolmetsch, Ricardo E; Geschwind, Daniel H	January 2014	Not Relevant
24618187	Create Study	Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.	International journal of epidemiology	Kim YS, State MW	April 2014	Not Relevant
24574247	Create Study	Investigation of maternal genotype effects in autism by genome-wide association.	Autism research : official journal of the International Society for Autism Research	Yuan, Han; Dougherty, Joseph D	April 2014	Not Relevant
24533643	Create Study	Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.	Molecular autism	Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH	2014	Relevant
24453331	Create Study	Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.	The Journal of neuroscience : the official journal of the Society for Neuroscience	Xu X, Wells AB, O'Brien DR, Nehorai A, Dougherty JD	January 22, 2014	Not Relevant
24341889	Create Study	RNA-Seq optimization with eQTL gold standards.	BMC genomics	Ellis, Shannon E; Gupta, Simone; Ashar, Foram N; Bader, Joel S; West, Andrew B; Arking, Dan E	December 2013	Not Relevant
24267887	Create Study	Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.	Cell	Parikshak NN, Luo R, Zhang A, Won H, Lowe JK, Chandran V, Horvath S, Geschwind DH	November 21, 2013	Not Relevant
24183016	Create Study	Cortical evolution: judge the brain by its cover.	Neuron	Geschwind, Daniel H; Rakic, Pasko	October 30, 2013	Not Relevant
24090431	Create Study	SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).	Molecular autism	Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A	October 2013	Not Relevant
23975140	Create Study	DeNovoGear: de novo indel and point mutation discovery and phasing.	Nature methods	Ramu A, Noordam MJ, Schwartz RS, Wuster A, Hurles ME, Cartwright RA, Conrad DF	October 2013	Not Relevant
23933821	Create Study	Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.	Nature genetics	Cross-Disorder Group of the Psychiatric Genomics Consortium; Lee, S Hong; Ripke, Stephan; Neale, Benjamin M; Faraone, Stephen V; Purcell, Shaun M; Perlis, Roy H; Mowry, Bryan J; Thapar, Anita; Goddard, Michael E; Witte, John S; Absher, Devin; Agartz, Ingrid; Akil, Huda; Amin, Farooq; Andreassen, Ole A; Anjorin, Adebayo; Anney, Richard; Anttila, Verneri; Arking, Dan E; Asherson, Philip; Azevedo, Maria H; Backlund, Lena; Badner, Judith A; Bailey, Anthony J; Banaschewski, Tobias; Barchas, Jack D; Barnes, Michael R; Barrett, Thomas B; Bass, Nicholas; Battaglia, Agatino; Bauer, Michael; Bayés, Mònica; Bellivier, Frank; Bergen, Sarah E; Berrettini, Wade; Betancur, Catalina; Bettecken, Thomas; Biederman, Joseph; Binder, Elisabeth B; Black, Donald W; Blackwood, Douglas H R; Bloss, Cinnamon S; Boehnke, Michael; Boomsma, Dorret I; Breen, Gerome; Breuer, René; Bruggeman, Richard; Cormican, Paul; Buccola, Nancy G; Buitelaar, Jan K; Bunney, William E; Buxbaum, Joseph D; Byerley, William F; Byrne, Enda M; Caesar, Sian; Cahn, Wiepke; Cantor, Rita M; Casas, Miguel; Chakravarti, Aravinda; Chambert, Kimberly; Choudhury, Khalid; Cichon, Sven; Cloninger, C Robert; Collier, David A; Cook, Edwin H; Coon, Hilary; Cormand, Bru; Corvin, Aiden; Coryell, William H; Craig, David W; Craig, Ian W; Crosbie, Jennifer; Cuccaro, Michael L; Curtis, David; Czamara, Darina; Datta, Susmita; Dawson, Geraldine; Day, Richard; De Geus, Eco J; Degenhardt, Franziska; Djurovic, Srdjan; Donohoe, Gary J; Doyle, Alysa E; Duan, Jubao; Dudbridge, Frank; Duketis, Eftichia; Ebstein, Richard P; Edenberg, Howard J; Elia, Josephine; Ennis, Sean; Etain, Bruno; Fanous, Ayman; Farmer, Anne E; Ferrier, I Nicol; Flickinger, Matthew; Fombonne, Eric; Foroud, Tatiana; Frank, Josef; Franke, Barbara; Fraser, Christine; Freedman, Robert; Freimer, Nelson B; Freitag, Christine M; Friedl, Marion; Frisén, Louise; Gallagher, Louise; Gejman, Pablo V; Georgieva, Lyudmila; Gershon, Elliot S; Geschwind, Daniel H; Giegling, Ina; Gill, Michael; Gordon, Scott D; Gordon-Smith, Katherine; Green, Elaine K; Greenwood, Tiffany A; Grice, Dorothy E; Gross, Magdalena; Grozeva, Detelina; Guan, Weihua; Gurling, Hugh; De Haan, Lieuwe; Haines, Jonathan L; Hakonarson, Hakon; Hallmayer, Joachim; Hamilton, Steven P; Hamshere, Marian L; Hansen, Thomas F; Hartmann, Annette M; Hautzinger, Martin; Heath, Andrew C; Henders, Anjali K; Herms, Stefan; Hickie, Ian B; Hipolito, Maria; Hoefels, Susanne; Holmans, Peter A; Holsboer, Florian; Hoogendijk, Witte J; Hottenga, Jouke-Jan; Hultman, Christina M; Hus, Vanessa; Ingason, Andrés; Ising, Marcus; Jamain, Stéphane; Jones, Edward G; Jones, Ian; Jones, Lisa; Tzeng, Jung-Ying; Kähler, Anna K; Kahn, René S; Kandaswamy, Radhika; Keller, Matthew C; Kennedy, James L; Kenny, Elaine; Kent, Lindsey; Kim, Yunjung; Kirov, George K; Klauck, Sabine M; Klei, Lambertus; Knowles, James A; Kohli, Martin A; Koller, Daniel L; Konte, Bettina; Korszun, Ania; Krabbendam, Lydia; Krasucki, Robert; Kuntsi, Jonna; Kwan, Phoenix; Landén, Mikael; Långström, Niklas; Lathrop, Mark; Lawrence, Jacob; Lawson, William B; Leboyer, Marion; Ledbetter, David H; Lee, Phil H; Lencz, Todd; Lesch, Klaus-Peter; Levinson, Douglas F; Lewis, Cathryn M; Li, Jun; Lichtenstein, Paul; Lieberman, Jeffrey A; Lin, Dan-Yu; Linszen, Don H; Liu, Chunyu; Lohoff, Falk W; Loo, Sandra K; Lord, Catherine; Lowe, Jennifer K; Lucae, Susanne; MacIntyre, Donald J; Madden, Pamela A F; Maestrini, Elena; Magnusson, Patrik K E; Mahon, Pamela B; Maier, Wolfgang; Malhotra, Anil K; Mane, Shrikant M; Martin, Christa L; Martin, Nicholas G; Mattheisen, Manuel; M (see original citation for additional authors)	September 2013	Not Relevant
23722009	Create Study	Mapping connectivity in the developing brain.	International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience	Dennis, Emily L; Thompson, Paul M	November 2013	Not Relevant
23453885	Create Study	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Lancet (London, England)	Cross-Disorder Group of the Psychiatric Genomics Consortium	April 20, 2013	Not Determined

helpcenter.collection.publications-tab

Collection - Publications

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

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

Frequently Asked Questions

How can I determine if a publication is relevant?

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

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

Glossary

Create Study

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

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

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

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

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

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

Contact NDA Help Desk

Data Expected List: Mandatory Data Structures

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

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

Data Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Research Subject and Pedigree	1,520	01/15/2014	5,092	05/15/2014	5,092	Approved

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

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

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

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

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

Data Expected List: Data Structures per Research Aims

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

Data Expected	Targeted Enrollment	Initial Submission	Subjects Submitted	Initial Share	Subjects Shared	Status
Mullen Scales of Early Learning	20	01/15/2014	20	05/15/2014	20	Approved
Ravens Coloured Progressive Matrices (CPM)	200	01/15/2014	275	05/15/2014	275	Approved
Genomics/omics	1,200	02/28/2017	4,483	02/28/2019	4,483	Approved
ADOS	600	01/15/2014	467	05/15/2014	0	Approved
ADI-R	600	01/15/2014	396	05/15/2014	0	Approved
Medical History	600	01/15/2014	463	05/15/2014	452	Approved
Social Responsiveness Scale (SRS)	600	01/15/2014	974	05/15/2014	974	Approved
Genetic Test	185	01/15/2014	185	05/15/2014	185	Approved
Social Communication Questionnaire (SCQ)	600	01/15/2014	526	05/15/2014	526	Approved
Demographics	1,520	01/15/2014	440	05/15/2014	0	Approved
DAS-II: Differential Ability Scales	500	01/15/2014	339	05/15/2014	0	Approved
Peabody Picture Vocabulary Test, Fourth Edition	200	01/15/2014	89	05/15/2014	89	Approved
Physical Exam	600	01/15/2014	445	05/15/2014	445	Approved
EHCI Diagnostic Odyssey Instrument	600	01/15/2014	479	05/15/2017	479	Approved
Vineland (Parent and Caregiver)	600	01/15/2014	445	05/15/2014	445	Approved
Ravens Standard Progressive Matrices (SPM)	200	01/15/2014	499	05/15/2014	499	Approved

Structure not yet defined

No Status history for this Data Expected has been recorded yet

helpcenter.collection.data-expected-tab

Collection - Data Expected

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

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

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

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

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

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

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

Frequently Asked Questions

What is an NDA Data Structure?

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

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

Glossary

Analyzed Data

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

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

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

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

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

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

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

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

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

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

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

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

Contact NDA Help Desk

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

Associated Studies

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

Study NameFilter by Study Name	AbstractFilter by Abstract	Collection/Study SubjectsFilter by Collection/Study Subjects	Data UsageFilter by Data Usage	StateFilter by State
Examining the validity of the use of ratio IQs in psychological assessments	IQ tests are amongst the most used psychological assessments, both in research and clinical settings. For participants who cannot complete IQ tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ, especially in large research databases to avoid missing data points. However, because it has never been scientifically validated, this practice is questionable. In the era of big data, it is important to examine the validity of this widely used practice. In this paper, we use the case of autism to examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which ages, FSIQ scores and subtests raw scores were available for autistic participants between 2 and 17 years old. The IQ tests included were the MSEL (N=12033), DAS-II early years (N=1270), DAS-II school age (N=2848), WISC-IV (N=471) and WISC-V (N=129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed two linear regressions to respectively assess the effect of FSIQ and of age on the DSC for each IQ test, followed by additional analyses comparing age subgroups as well as FSIQ subgroups on DSC. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. These results question the validity of this widely used alternative scoring method, especially for individuals at the extremes of the normal distribution, with whom RIQs are most often employed.	20/17423	Secondary Analysis	Shared
The importance of low IQ to early diagnosis of autism	Some individuals can flexibly adapt to life’s changing demands while others, in particular those with Autism Spectrum Disorder (ASD), find it challenging. The origin of early individual differences in cognitive abilities, the putative tools with which to navigate novel information in life, including in infants later diagnosed with ASD remains unexplored. Moreover, the role of intelligence quotient (IQ) vis-à-vis core features of autism remains debated. We systematically investigate the contribution of early IQ in future autism outcomes in an extremely large, population-based study of 8,000 newborns, infants, and toddlers from the US between 2 and 68 months with over 15,000 cross-sectional and longitudinal assessments, and for whom autism outcomes are ascertained or ruled out by about 2-4 years. This population is representative of subjects involved in the National Institutes of Health (NIH)-funded research, mainly on atypical development, in the US. Analyses using predetermined age bins showed that IQ scores are consistently lower in ASD relative to TD at all ages (p<0.001), and IQ significantly correlates with calibrated severity scores (total CSS, as well as non-verbal and verbal CSS) on the ADOS. Note, VIQ is no better than the full-scale IQ to predict ASD cases. These findings raise new, compelling questions about potential atypical brain circuitry affecting performance in both verbal and nonverbal abilities and that precede an ASD diagnosis. This study is the first to establish prospectively that low early IQ is a major feature of ASD in early childhood.	2/6323	Secondary Analysis	Shared
Prognostic early snapshot stratification of autism based on adaptive functioning	A major goal of precision medicine is to predict prognosis based on individualized information at the earliest possible points in development. Using early snapshots of adaptive functioning and unsupervised data- driven discovery methods, we uncover highly stable early autism subtypes that yield information relevant to later prognosis. Data from the National Institute of Mental Health Data Archive (NDA) (n = 1,098) was used to uncover three early subtypes (<72 months) that generalize with 96% accuracy. Outcome data from NDA (n = 2,561; mean age, 13 years) also reproducibly clusters into three subtypes with 99% generalization accuracy. Early snapshot subtypes predict developmental trajectories in non-verbal cognitive, language and motor domains and are predictive of membership in different adaptive functioning outcome subtypes. Robust and prognosis- relevant subtyping of autism based on early snapshots of adaptive functioning may aid future research work via prediction of these subtypes with our reproducible stratification model.	214/3517	Secondary Analysis	Shared
Investigating autism etiology and heterogeneity by decision tree algorithm	Autism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in cognition, communication and social skills. ASD, however, is a highly heterogeneous disorder. This heterogeneity has made identifying the etiology of ASD a particularly difficult challenge, as patients exhibit a wide spectrum of symptoms without any unifying genetic or environmental factors to account for the disorder. For better understanding of ASD, it is paramount to identify potential genetic and environmental risk factors that are comorbid with it. Identifying such factors is of great importance to determine potential causes for the disorder, and understand its heterogeneity. Existing large-scale datasets offer an opportunity for computer scientists to undertake this task by utilizing machine learning to reliably and efficiently obtain insight about potential ASD risk factors, which would in turn assist in guiding research in the field. In this study, decision tree algorithms were utilized to analyze related factors in datasets obtained from the National Database for Autism Research (NDAR) consisting of nearly 3000 individuals. We were able to identify 15 medical conditions that were highly associated with ASD diagnoses in patients; furthermore, we extended our analysis to the family medical history of patients and we report six potentially hereditary medical conditions associated with ASD. Associations reported had a 90% accuracy. Meanwhile, gender comparisons highlighted conditions that were unique to each gender and others that overlapped. Those findings were validated by the academic literature, thus opening the way for new directions for the use of decision tree algorithms to further understand the etiology of autism.	5/3382	Secondary Analysis	Shared

* Data not on individual level

helpcenter.collection.associated-studies-tab

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.

Contact NDA Help Desk

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Glossary