NIMH Data Archive - Data

Genomics

Neuroimaging

Phenotype¹

New Trial
Clinical Trial

¹ Numbers reported are subjects by age

New Project
Grant/Project Number

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

Collection - Use Existing Experiment

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

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

Select	Experiment Id	Experiment Name	Experiment Type	Created On

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

Collection - Add Experiment

Add Supporting Documentation

Funding Source:
URL:

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

Use/Modify Existing Data Structure

Request New Data Structure

Targeted Enrollment:

Initial Submission Date:

Initial Share Date:

Data Structure Search:

Data Structures:

Submit

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Not Eligible

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

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

Collection Updated

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.

[CMS] Error

[CMS]

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

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

Data Expected Item	Original Sharing Date	New Sharing Date

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

Explanation must be between 20 and 200 characters in length.

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UIC ACE: Translational Studies of Insistence on Sameness in Autism #1

General
Experiments (4)
Shared Data
Publications (102)
Data Expected (30)
Associated Studies (22)

Collection Title	Collection Investigators	Collection Description
Collection Title:	UIC ACE: Translational Studies of Insistence on Sameness in Autism
Collection Investigators:	Ed Cook
Collection Description:	The UIC ACE was focused on the genetics, neurobiology, cognitive and affective processes, and pharmacology of insistence on sameness (IS) in autism spectrum disorders (ASD). A large sample of children with self-reported autism spectrum disorder will be screened by the Assessment Core for further screening by administration of the ADI-R to the parents. Probands meeting ADI-R criteria for autistic disorder will be recruited for further study if they are also classified by the ADI-R IS items as high (N=150) or low IS (N=100). In addition, high IS subjects will need to score 15 or more on the sum of two IS factors on the RBS-R to avoid floor effects for the pharmacogenetic trial. These 250 subjects will all be included in project I, Genetics of Serotonin in Autism: Neurochemical and Clinical Endophenotypes, along with 225 previously studied subjects and their parents for a total of 475 trios. This project will study 25 serotonin- related genes for association with autism and with IS more specifically. Resequencing of strong candidate genes will be conducted with all of the subjects in the pharmacogenetic project (III) and with the low IS subjects in project II. In addition, the 250 subjects will have serotonin measures collected for analysis with genetic and phenotype measures. In Project II: Translational Studies of Cognitive, Affective and Neurochemical Processes Underlying Insistence on Sameness in Autism, fMRI studies of IS will be conducted on 50 high IS subjects also in Project III, 50 low IS subjects (also in Project I) and 50 control subjects. In addition, rat studies in which parallel behavioral and neurochemical approaches will be used. Project III: The Pharmacogenetics of Treatment for Insistence on Sameness in Autism has been designed to replicate and extend a preliminary study of escitalopram treatment of IS related irritability in ASD. Project IV: Autism-Associated Serotonin Transporter (SERT) Mutations will provide characterization of mutations previously found to be associated with high IS behaviors in subjects with autism.
Data Repository:	NIMH Data Archive
Permission Group:
Collection Creation Date:	04/01/2008
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:	$9,528,855.00
Subjects Shared:	3,796

{"values":[["SNP and CNV: microarray",180]]}

{"values":[["fMRI",55],["MRI",2]]}

{"values":[["Not Defined",136],["Neurological Control",5],["Fragile X",8],["Autism Spectrum Mildly Affected",24],["Autism Spectrum Severely Affected",581],["Parental Control",400],["Autism Spectrum Affected",223],["Typical Control",95]]}

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

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
51	Illumina SNP/CNV array	09/04/2011	Approved	Omics
52	Illumina SNP/CNV array - Omni 1	09/04/2011	Approved	Omics
292	5-HTTLPR	04/06/2015	Approved	Omics
409	UIC ACE CIDR	12/08/2015	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
AURORA Flash Survey Latent Construct Anxiety	Clinical Assessments	2543
Aberrant Behavior Checklist (ABC) - Community	Clinical Assessments	218
Autism Diagnostic Interview, Revised (ADI-R)	Clinical Assessments	230
Autism Diagnostic Observation Schedule (ADOS) - Module 1 (2007)	Clinical Assessments	52
Autism Diagnostic Observation Schedule (ADOS) - Module 2 (2007)	Clinical Assessments	31
Autism Diagnostic Observation Schedule (ADOS) - Module 4	Clinical Assessments	66
Autism Diagnostic Observation Schedule (ADOS)- Module 1	Clinical Assessments	44
Autism Diagnostic Observation Schedule (ADOS)- Module 2	Clinical Assessments	31
Autism Diagnostic Observation Schedule (ADOS)- Module 3	Clinical Assessments	112
Autism Diagnostic Observation Schedule (ADOS)- Module 3 (2007)	Clinical Assessments	59
Autism Diagnostic Observation Schedule (ADOS)- Module 4	Clinical Assessments	1
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1	Clinical Assessments	52
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 2	Clinical Assessments	31
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3	Clinical Assessments	157
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 4	Clinical Assessments	64
Broad Autism Phenotype Questionnaire (BAPQ)	Clinical Assessments	318
CELF Preschool-2	Clinical Assessments	13
CELF-4 Clinical Eval of Lang Fundamentals, 4th ed	Clinical Assessments	76
CHARGE Family Characteristics Questionnaire	Clinical Assessments	159
CHARGE Medical History	Clinical Assessments	189
CHARGE Physical Exam	Clinical Assessments	252
Childhood Routines Inventory (CRI)	Clinical Assessments	144
Children's Scale of Hostility and Aggression: Reactive/Proactive	Clinical Assessments	48
Clinical Global Impression (CGI)	Clinical Assessments	41
DAS-II: Differential Ability Scales 2nd Ed. School Age	Clinical Assessments	165
DAS-II:Differential Ability Scales 2nd Ed. Early Years	Clinical Assessments	70
Demographics	Clinical Assessments	263
Expressive One-Word Picture Vocabulary Test (2000)	Clinical Assessments	154
Genomics Sample	Genomics	1009
Genomics Subject	Genomics	1010
Image	Imaging	58
Karyotype	Clinical Assessments	243
Modified CHARGE Family Medical History (2007)	Clinical Assessments	154
Modified CHARGE Family Medical History (rev July 2007)	Clinical Assessments	1
Mullen Scales of Early Learning	Clinical Assessments	30
Neurochemicals Test Form	Clinical Assessments	594
Obsessive-Compulsive Inventory - Revised (OCI-R)	Clinical Assessments	48
Peabody Picture Vocabulary Test, Fourth Edition-Form A	Clinical Assessments	153
Peabody Picture Vocabulary Test, Fourth Edition-Form B	Clinical Assessments	36
Preschool Language Scale, Fourth Edition (PLS-4)	Clinical Assessments	18
Ravens Coloured Progressive Matrices (CPM)	Clinical Assessments	10
Repetitive Behavior Scale - Revised (RBS-R)	Clinical Assessments	221
Research Subject	Clinical Assessments	257
SRS-2. Adult, Preschool and School Age	Clinical Assessments	238
Social Communication Questionnaire (SCQ) - Current Form	Clinical Assessments	29
Social Communication Questionnaire (SCQ) - Lifetime	Clinical Assessments	271
Social Responsiveness Scale (SRS)	Clinical Assessments	183
Social Responsiveness Scale (SRS) - Adult Version	Clinical Assessments	3
Social Responsiveness Scale (SRS) - Adult/Self Version	Clinical Assessments	50
Tanner Sexual Maturity Scale	Clinical Assessments	146
Vineland-II - Survey Form (2005)	Clinical Assessments	220
WASI-2	Clinical Assessments	32
Wechsler Abbreviated Scale of Intelligence (WASI)	Clinical Assessments	105
Wechsler Adult Intelligence Scale Fourth Edition [part 1]	Clinical Assessments	2

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
34716740	Create Study	Visuomotor brain network activation and functional connectivity among individuals with autism spectrum disorder.	Human brain mapping	Lepping, Rebecca J; McKinney, Walker S; Magnon, Grant C; Keedy, Sarah K; Wang, Zheng; Coombes, Stephen A; Vaillancourt, David E; Sweeney, John A; Mosconi, Matthew W	February 1, 2022	Not Determined
31729143	Study (784)	Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.	American journal of medical genetics. Part A	Bojanek, Erin K; Mosconi, Matthew W; Guter, Stephen; Betancur, Catalina; Macmillan, Carol; Cook, Edwin H	January 2020	Relevant
30927179	Study (543)	Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder.	Journal of autism and developmental disorders	Aaron, Elizabeth; Montgomery, Alicia; Ren, Xinguo; Guter, Stephen; Anderson, George; Carneiro, Ana M D; Jacob, Suma; Mosconi, Matthew; Pandey, Ghanshyam N; Cook, Edwin; Veenstra-VanderWeele, Jeremy	June 2019	Relevant
30392628	Study (544)	Maternal Serotonin Levels Are Associated With Cognitive Ability and Core Symptoms in Autism Spectrum Disorder.	Journal of the American Academy of Child and Adolescent Psychiatry	Montgomery AK, Shuffrey LC, Guter SJ, Anderson GM, Jacob S, Mosconi MW, Sweeney JA, Turner JB, Sutcliffe JS, Cook EH, Veenstra-VanderWeele J	November 2018	Relevant
29374536	Create Study	Cognitive Flexibility Deficits Following 6-OHDA Lesions of the Rat Dorsomedial Striatum.	Neuroscience	Grospe GM, Baker PM, Ragozzino ME	March 2018	Not Relevant
29193861	Create Study	The adenosine A2A receptor agonist, CGS 21680, attenuates a probabilistic reversal learning deficit and elevated grooming behavior in BTBR mice.	Autism research : official journal of the International Society for Autism Research	Amodeo, Dionisio A; Cuevas, Laura; Dunn, Jeffrey T; Sweeney, John A; Ragozzino, Michael E	February 1, 2018	Not Determined
29052841	Create Study	Cognitive mechanisms of inhibitory control deficits in autism spectrum disorder.	Journal of child psychology and psychiatry, and allied disciplines	Schmitt LM, White SP, Cook EH, Sweeney JA, Mosconi MW	October 2017	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	2017	Relevant
28407363	Create Study	De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.	American journal of medical genetics. Part A	Sagar, Angela; Pinto, Dalila; Najjar, Fedra; Guter, Stephen J; Macmillan, Carol; Cook, Edwin H	June 1, 2017	Relevant
28401654	Create Study	Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder?	Autism research : official journal of the International Society for Autism Research	Shuffrey LC, Guter SJ, Delaney S, Jacob S, Anderson GM, Sutcliffe JS, Cook EH, Veenstra-VanderWeele J	April 12, 2017	Relevant
28344757	Study (416)	Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.	Molecular autism	Chen R, Davis LK, Guter S, Wei Q, Jacob S, Potter MH, Cox NJ, Cook EH, Sutcliffe JS, Li B	2017	Relevant
28018266	Create Study	Inhibitory Control Processes and the Strategies That Support Them during Hand and Eye Movements.	Frontiers in psychology	Schmitt, Lauren M; Ankeny, Lisa D; Sweeney, John A; Mosconi, Matthew W	January 1, 2016	Not Determined
27940149	Create Study	Close genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs.	Genomics	Zhu Z, Lu X, Yuan D, Huang S	January 2017	Not Determined
27920663	Study (427)	ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.	Frontiers in neuroscience	Francis, Sunday M; Kim, Soo-Jeong; Kistner-Griffin, Emily; Guter, Stephen; Cook, Edwin H; Jacob, Suma	January 2016	Relevant
27727243	Create Study	Alterations in the functional neural circuitry supporting flexible choice behavior in autism spectrum disorders.	Translational psychiatry	D'Cruz AM, Mosconi MW, Ragozzino ME, Cook EH, Sweeney JA	October 2016	Not Determined
27717169	Create Study	5HT2A receptor blockade in dorsomedial striatum reduces repetitive behaviors in BTBR mice.	Genes, brain, and behavior	Amodeo, D A; Rivera, E; Cook Jr, E H; Sweeney, J A; Ragozzino, M E	March 2017	Not Determined
27328765	Create Study	The impact of genotype calling errors on family-based studies.	Scientific reports	Yan Q, Chen R, Sutcliffe JS, Cook EH, Weeks DE, Li B, Chen W	June 2016	Not Determined
27267245	Create Study	Cognitive flexibility impairment and reduced frontal cortex BDNF expression in the ouabain model of mania.	Neuroscience	Amodeo, Dionisio A; Grospe, Gena; Zang, Hui; Dwivedi, Yogesh; Ragozzino, Michael E	March 2017	Relevant
27242401	Study (404)	Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.	Frontiers in neuroscience	Francis SM, Kistner-Griffin E, Yan Z, Guter S, Cook EH, Jacob S	2016	Relevant
27155985	Create Study	Motor Memory Deficits Contribute to Motor Impairments in Autism Spectrum Disorder.	Journal of autism and developmental disorders	Neely, Kristina A; Mohanty, Suman; Schmitt, Lauren M; Wang, Zheng; Sweeney, John A; Mosconi, Matthew W	July 1, 2019	Not Determined
26976089	Create Study	Pedunculopontine tegmental nucleus lesions impair probabilistic reversal learning by reducing sensitivity to positive reward feedback.	Neurobiology of learning and memory	Syed, Anam; Baker, Phillip M; Ragozzino, Michael E	May 2016	Not Relevant
26744772	Create Study	Confirmation of the Factor Structure and Measurement Invariance of the Children's Scale of Hostility and Aggression: Reactive/Proactive in Clinic-Referred Children With and Without Autism Spectrum Disorder.	Journal of child and adolescent psychopharmacology	Farmer CA, Kaat AJ, Mazurek MO, Lainhart JE, DeWitt MB, Cook EH, Butter EM, Aman MG	February 2016	Not Determined
26608837	Create Study	The sensitivity and specificity of the social communication questionnaire for autism spectrum with respect to age.	Autism research : official journal of the International Society for Autism Research	Barnard-Brak L, Brewer A, Chesnut S, Richman D, Schaeffer AM	November 26, 2015	Not Determined
26463344	Create Study	Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications.	Acta neuropathologica communications	Wegiel, Jerzy; Flory, Michael; Schanen, N Carolyn; Cook, Edwin H; Nowicki, Krzysztof; Kuchna, Izabela; Imaki, Humi; Ma, Shuang Yong; Wegiel, Jarek; London, Eric; Casanova, Manuel F; Wisniewski, Thomas; Brown, W Ted	2015	Not Determined
26335740	Create Study	Sensorimotor dysfunctions as primary features of autism spectrum disorders.	Science China. Life sciences	Mosconi, Matthew W; Sweeney, John A	October 2015	Not Determined
26313485	Create Study	Escitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in autism spectrum disorder.	Pharmacogenetics and genomics	Bishop, Jeffrey R; Najjar, Fedra; Rubin, Leah H; Guter, Stephen J; Owley, Thomas; Mosconi, Matthew W; Jacob, Suma; Cook, Edwin H	November 2015	Relevant
26262902	Create Study	Pharmacogenetic Study of Serotonin Transporter and 5HT2A Genotypes in Autism.	Journal of child and adolescent psychopharmacology	Najjar, Fedra; Owley, Thomas; Mosconi, Matthew W; Jacob, Suma; Hur, Kwan; Guter, Stephen J; Sweeney, John A; Gibbons, Robert D; Cook, Edwin H; Bishop, Jeffrey R	August 2015	Not Determined
26239494	Create Study	Relative Timing Between Kappa Opioid Receptor Activation and Cocaine Determines the Impact on Reward and Dopamine Release.	Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology	Chartoff, Elena H; Ebner, Shayla R; Sparrow, Angela; Potter, David; Baker, Phillip M; Ragozzino, Michael E; Roitman, Mitchell F	March 2016	Not Determined
26151311	Create Study	An ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data.	Journal of biomedical informatics	Mugzach O, Peleg M, Bagley SC, Guter SJ, Cook EH, Altman RB	August 2015	Not Determined
25653359	Create Study	Feedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder.	The Journal of neuroscience : the official journal of the Society for Neuroscience	Mosconi, Matthew W; Mohanty, Suman; Greene, Rachel K; Cook, Edwin H; Vaillancourt, David E; Sweeney, John A	February 4, 2015	Not Relevant
25568282	Create Study	A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.	Bioinformatics (Oxford, England)	Chen R, Wei Q, Zhan X, Zhong X, Sutcliffe JS, Cox NJ, Cook EH, Li C, Chen W, Li B	May 1, 2015	Not Relevant
25409314	Create Study	Protein interaction networks reveal novel autism risk genes within GWAS statistical noise.	PloS one	Correia, Catarina; Oliveira, Guiomar; Vicente, Astrid M	2014	Not Determined
25400899	Create Study	Saccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem.	Molecular autism	Schmitt LM, Cook EH, Sweeney JA, Mosconi MW	January 2014	Not Determined
25363760	Create Study	Synaptic, transcriptional and chromatin genes disrupted in autism.	Nature	De Rubeis, Silvia; He, Xin; Goldberg, Arthur P; Poultney, Christopher S; Samocha, Kaitlin; Cicek, A Erucment; Kou, Yan; Liu, Li; Fromer, Menachem; Walker, Susan; Singh, Tarinder; Klei, Lambertus; Kosmicki, Jack; Shih-Chen, Fu; Aleksic, Branko; Biscaldi, Monica; Bolton, Patrick F; Brownfeld, Jessica M; Cai, Jinlu; Campbell, Nicholas G; Carracedo, Angel; Chahrour, Maria H; Chiocchetti, Andreas G; Coon, Hilary; Crawford, Emily L; Curran, Sarah R; Dawson, Geraldine; Duketis, Eftichia; Fernandez, Bridget A; Gallagher, Louise; Geller, Evan; Guter, Stephen J; Hill, R Sean; Ionita-Laza, Juliana; Jimenz Gonzalez, Patricia; Kilpinen, Helena; Klauck, Sabine M; Kolevzon, Alexander; Lee, Irene; Lei, Irene; Lei, Jing; Lehtimäki, Terho; Lin, Chiao-Feng; Ma'ayan, Avi; Marshall, Christian R; McInnes, Alison L; Neale, Benjamin; Owen, Michael J; Ozaki, Noriio; Parellada, Mara; Parr, Jeremy R; Purcell, Shaun; Puura, Kaija; Rajagopalan, Deepthi; Rehnström, Karola; Reichenberg, Abraham; Sabo, Aniko; Sachse, Michael; Sanders, Stephan J; Schafer, Chad; Schulte-Rüther, Martin; Skuse, David; Stevens, Christine; Szatmari, Peter; Tammimies, Kristiina; Valladares, Otto; Voran, Annette; Li-San, Wang; Weiss, Lauren A; Willsey, A Jeremy; Yu, Timothy W; Yuen, Ryan K C; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook, Edwin H; Freitag, Christine M; Gill, Michael; Hultman, Christina M; Lehner, Thomas; Palotie, Aaarno; Schellenberg, Gerard D; Sklar, Pamela; State, Matthew W; Sutcliffe, James S; Walsh, Christiopher A; Scherer, Stephen W; Zwick, Michael E; Barett, Jeffrey C; Cutler, David J; Roeder, Kathryn; Devlin, Bernie; Daly, Mark J; Buxbaum, Joseph D	November 13, 2014	Not Relevant
25307299	Create Study	Structural architecture of SNP effects on complex traits.	American journal of human genetics	Gamazon, Eric R; Cox, Nancy J; Davis, Lea K	November 6, 2014	Not Relevant
25270638	Create Study	Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.	Bioinformatics (Oxford, England)	Trubetskoy, Vassily; Rodriguez, Alex; Dave, Uptal; Campbell, Nicholas; Crawford, Emily L; Cook, Edwin H; Sutcliffe, James S; Foster, Ian; Madduri, Ravi; Cox, Nancy J; Davis, Lea K	January 15, 2015	Not Relevant
25234483	Create Study	Cognitive set shifting deficits and their relationship to repetitive behaviors in autism spectrum disorder.	Journal of autism and developmental disorders	Miller, Haylie L; Ragozzino, Michael E; Cook, Edwin H; Sweeney, John A; Mosconi, Matthew W	March 2015	Not Relevant
25165445	Create Study	Oxotremorine treatment reduces repetitive behaviors in BTBR T+ tf/J mice.	Frontiers in synaptic neuroscience	Amodeo, Dionisio A; Yi, Julia; Sweeney, John A; Ragozzino, Michael E	January 1, 2014	Not Determined
25131546	Create Study	Epigenetic mechanisms in autism spectrum disorder.	International review of neurobiology	Zhubi A, Cook EH, Guidotti A, Grayson DR	2014	Not Relevant
25086666	Create Study	A framework for the interpretation of de novo mutation in human disease.	Nature genetics	Samocha, Kaitlin E; Robinson, Elise B; Sanders, Stephan J; Stevens, Christine; Sabo, Aniko; McGrath, Lauren M; Kosmicki, Jack A; Rehnström, Karola; Mallick, Swapan; Kirby, Andrew; Wall, Dennis P; MacArthur, Daniel G; Gabriel, Stacey B; DePristo, Mark; Purcell, Shaun M; Palotie, Aarno; Boerwinkle, Eric; Buxbaum, Joseph D; Cook Jr, Edwin H; Gibbs, Richard A; Schellenberg, Gerard D; Sutcliffe, James S; Devlin, Bernie; Roeder, Kathryn; Neale, Benjamin M; Daly, Mark J	September 2014	Not Relevant
25038753	Create Study	Most genetic risk for autism resides with common variation.	Nature genetics	Gaugler, Trent; Klei, Lambertus; Sanders, Stephan J; Bodea, Corneliu A; Goldberg, Arthur P; Lee, Ann B; Mahajan, Milind; Manaa, Dina; Pawitan, Yudi; Reichert, Jennifer; Ripke, Stephan; Sandin, Sven; Sklar, Pamela; Svantesson, Oscar; Reichenberg, Abraham; Hultman, Christina M; Devlin, Bernie; Roeder, Kathryn; Buxbaum, Joseph D	August 2014	Not Determined
25028395	Create Study	Contralateral disconnection of the rat prelimbic cortex and dorsomedial striatum impairs cue-guided behavioral switching.	Learning & memory (Cold Spring Harbor, N.Y.)	Baker PM, Ragozzino ME	August 2014	Not Relevant
24894823	Create Study	Risperidone and the 5-HT2A Receptor Antagonist M100907 Improve Probabilistic Reversal Learning in BTBR T¿+¿tf/J Mice.	Autism research : official journal of the International Society for Autism Research	Amodeo DA, Jones JH, Sweeney JA, Ragozzino ME	October 2014	Not Relevant
24768552	Create Study	Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.	American journal of human genetics	Pinto, Dalila; Delaby, Elsa; Merico, Daniele; Barbosa, Mafalda; Merikangas, Alison; Klei, Lambertus; Thiruvahindrapuram, Bhooma; Xu, Xiao; Ziman, Robert; Wang, Zhuozhi; Vorstman, Jacob A S; Thompson, Ann; Regan, Regina; Pilorge, Marion; Pellecchia, Giovanna; Pagnamenta, Alistair T; Oliveira, Bárbara; Marshall, Christian R; Magalhaes, Tiago R; Lowe, Jennifer K; Howe, Jennifer L; Griswold, Anthony J; Gilbert, John; Duketis, Eftichia; Dombroski, Beth A; De Jonge, Maretha V; Cuccaro, Michael; Crawford, Emily L; Correia, Catarina T; Conroy, Judith; Conceição, Inês C; Chiocchetti, Andreas G; Casey, Jillian P; Cai, Guiqing; Cabrol, Christelle; Bolshakova, Nadia; Bacchelli, Elena; Anney, Richard; Gallinger, Steven; Cotterchio, Michelle; Casey, Graham; Zwaigenbaum, Lonnie; Wittemeyer, Kerstin; Wing, Kirsty; Wallace, Simon; van Engeland, Herman; Tryfon, Ana; Thomson, Susanne; Soorya, Latha; Rogé, Bernadette; Roberts, Wendy; Poustka, Fritz; Mouga, Susana; Minshew, Nancy; McInnes, L Alison; McGrew, Susan G; Lord, Catherine; Leboyer, Marion; Le Couteur, Ann S; Kolevzon, Alexander; Jiménez González, Patricia; Jacob, Suma; Holt, Richard; Guter, Stephen; Green, Jonathan; Green, Andrew; Gillberg, Christopher; Fernandez, Bridget A; Duque, Frederico; Delorme, Richard; Dawson, Geraldine; Chaste, Pauline; Café, Cátia; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F; Bölte, Sven; Bernier, Raphael; Baird, Gillian; Bailey, Anthony J; Anagnostou, Evdokia; Almeida, Joana; Wijsman, Ellen M; Vieland, Veronica J; Vicente, Astrid M; Schellenberg, Gerard D; Pericak-Vance, Margaret; Paterson, Andrew D; Parr, Jeremy R; Oliveira, Guiomar; Nurnberger, John I; Monaco, Anthony P; Maestrini, Elena; Klauck, Sabine M; Hakonarson, Hakon; Haines, Jonathan L; Geschwind, Daniel H; Freitag, Christine M; Folstein, Susan E; Ennis, Sean; Coon, Hilary; Battaglia, Agatino; Szatmari, Peter; Sutcliffe, James S; Hallmayer, Joachim; Gill, Michael; Cook, Edwin H; Buxbaum, Joseph D; Devlin, Bernie; Gallagher, Louise; Betancur, Catalina; Scherer, Stephen W	May 1, 2014	Not Determined
24634087	Create Study	A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.	Autism research : official journal of the International Society for Autism Research	Ceroni F, Sagar A, Simpson NH, Gawthrope AJ, Newbury DF, Pinto D, Francis SM, Tessman DC, Cook EH, Monaco AP, Maestrini E, Pagnamenta AT, Jacob S	April 2014	Not Relevant
24497627	Create Study	Aggression in children with autism spectrum disorders and a clinic-referred comparison group.	Autism : the international journal of research and practice	Farmer, Cristan; Butter, Eric; Mazurek, Micah O; Cowan, Charles; Lainhart, Janet; Cook, Edwin H; DeWitt, Mary Beth; Aman, Michael	April 2015	Not Determined
24475125	Create Study	Expression of microRNAs and other small RNAs in prefrontal cortex in schizophrenia, bipolar disorder and depressed subjects.	PloS one	Smalheiser, Neil R; Lugli, Giovanni; Zhang, Hui; Rizavi, Hooriyah; Cook, Edwin H; Dwivedi, Yogesh	2014	Not Relevant
24448211	Create Study	Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.	Translational psychiatry	Zhubi A, Chen Y, Dong E, Cook EH, Guidotti A, Grayson DR	2014	Not Relevant
24365486	Create Study	Visual motion processing and visual sensorimotor control in autism.	Journal of the International Neuropsychological Society : JINS	Takarae, Yukari; Luna, Beatriz; Minshew, Nancy J; Sweeney, John A	January 2014	Not Determined
24246555	Create Study	The prelimbic cortex and subthalamic nucleus contribute to cue-guided behavioral switching.	Neurobiology of learning and memory	Baker PM, Ragozzino ME	January 2014	Not Relevant
23979605	Create Study	De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.	Molecular psychiatry	Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, , Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli ADaly MJGibbs RABoerwinkle EBuxbaum JDCook EHDevlin BLim ETNeale BMRoeder KSabo ASchellenberg GDStevens CSutcliffe JS	December 2013	Not Determined
23956104	Create Study	Parental broader autism subphenotypes in ASD affected families: relationship to gender, child's symptoms, SSRI treatment, and platelet serotonin.	Autism research : official journal of the International Society for Autism Research	Levin-Decanini T, Maltman N, Francis SM, Guter S, Anderson GM, Cook EH, Jacob S	December 2013	Relevant
23704935	Create Study	Dynamic regulation of extracellular signal-regulated kinase (ERK) by protein phosphatase 2A regulatory subunit B56γ1 in nuclei induces cell migration.	PloS one	Kawahara E, Maenaka S, Shimada E, Nishimura Y, Sakurai H	2013	Not Relevant
23704934	Create Study	Saccade adaptation abnormalities implicate dysfunction of cerebellar-dependent learning mechanisms in Autism Spectrum Disorders (ASD).	PloS one	Mosconi, Matthew W; Luna, Beatriz; Kay-Stacey, Margaret; Nowinski, Caralynn V; Rubin, Leah H; Scudder, Charles; Minshew, Nancy; Sweeney, John A	2013	Not Relevant
23593035	Create Study	Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.	PLoS genetics	Liu, Li; Sabo, Aniko; Neale, Benjamin M; Nagaswamy, Uma; Stevens, Christine; Lim, Elaine; Bodea, Corneliu A; Muzny, Donna; Reid, Jeffrey G; Banks, Eric; Coon, Hillary; Depristo, Mark; Dinh, Huyen; Fennel, Tim; Flannick, Jason; Gabriel, Stacey; Garimella, Kiran; Gross, Shannon; Hawes, Alicia; Lewis, Lora; Makarov, Vladimir; Maguire, Jared; Newsham, Irene; Poplin, Ryan; Ripke, Stephan; Shakir, Khalid; Samocha, Kaitlin E; Wu, Yuanqing; Boerwinkle, Eric; Buxbaum, Joseph D; Cook Jr, Edwin H; Devlin, Bernie; Schellenberg, Gerard D; Sutcliffe, James S; Daly, Mark J; Gibbs, Richard A; Roeder, Kathryn	April 2013	Not Relevant
23527643	Create Study	Reduced behavioral flexibility in autism spectrum disorders.	Neuropsychology	D'Cruz AM, Ragozzino ME, Mosconi MW, Shrestha S, Cook EH, Sweeney JA	March 2013	Not Determined
23443968	Create Study	Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.	American journal of medical genetics. Part A	Sagar A, Bishop JR, Tessman DC, Guter S, Martin CL, Cook EH	April 2013	Not Relevant
23352160	Create Study	Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.	Neuron	Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, et al.	January 23, 2013	Not Determined
23303926	Create Study	Amphetamine paradoxically augments exocytotic dopamine release and phasic dopamine signals.	The Journal of neuroscience : the official journal of the Society for Neuroscience	Daberkow, D P; Brown, H D; Bunner, K D; Kraniotis, S A; Doellman, M A; Ragozzino, M E; Garris, P A; Roitman, M F	January 9, 2013	Not Relevant
22843504	Create Study	Individual common variants exert weak effects on the risk for autism spectrum disorders.	Human molecular genetics	Anney, Richard; Klei, Lambertus; Pinto, Dalila; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Casey, Jillian; Conroy, Judith; Correia, Catarina; Corsello, Christina; Crawford, Emily L; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Green, Andrew; Green, Jonathan; Guter, Stephen J; Heron, Elizabeth A; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Jacob, Suma; Kenny, Graham P; Kim, Cecilia; Kolevzon, Alexander; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Law-Smith, Miriam; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Liu, Xiao-Qing; Lombard, Frances; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Magalhaes, Tiago R; Mantoulan, Carine; McDougle, Christopher J; Melhem, Nadine M; Merikangas, Alison; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Noakes, Carolyn; Nygren, Gudrun; Papanikolaou, Katerina; Pagnamenta, Alistair T; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Posey, David J; Poustka, Fritz; Ragoussis, Jiannis; Regan, Regina; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Schlitt, Sabine; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Sykes, Nuala; Tancredi, Raffaella; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Vorstman, J A S; Wallace, Simon; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Bailey, Anthony J; Battaglia, Agatino; Cantor, Rita M; Coon, Hilary; Cuccaro, Michael L; Dawson, Geraldine; Ennis, Sean; Freitag, Christine M; Geschwind, Daniel H; Haines, Jonathan L; Klauck, Sabine M; McMahon, William M; Maestrini, Elena; Miller, Judith; Monaco, Anthony P; Nelson, Stanley F; Nurnberger Jr, John I; Oliveira, Guiomar; Parr, Jeremy R; Pericak-Vance, Margaret A; Piven, Joseph; Schellenberg, Gerard D; Scherer, Stephen W; Vicente, Astrid M; Wassink, Thomas H; Wijsman, Ellen M; Betancur, Catalina; Buxbaum, Joseph D; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Hallmayer, Joachim; Paterson, Andrew D; Sutcliffe, James S; Szatmari, Peter; Vieland, Veronica J; Hakonarson, Hakon; Devlin, Bernie	November 1, 2012	Not Determined
22721594	Create Study	Examining autism spectrum disorders by biomarkers: example from the oxytocin and serotonin systems.	Journal of the American Academy of Child and Adolescent Psychiatry	Hammock, Elizabeth; Veenstra-VanderWeele, Jeremy; Yan, Zhongyu; Kerr, Travis M; Morris, Marianna; Anderson, George M; Carter, C Sue; Cook, Edwin H; Jacob, Suma	July 2012	Not Determined
22678932	Create Study	Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.	American journal of medical genetics. Part A	Davis, L K; Maltman, N; Mosconi, M W; Macmillan, C; Schmitt, L; Moore, K; Francis, S M; Jacob, S; Sweeney, J A; Cook, E H	July 2012	Not Determined
22591576	Create Study	Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci.	Molecular autism	Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ	2012	Not Relevant
22511880	Create Study	Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.	PLoS genetics	Chahrour, Maria H; Yu, Timothy W; Lim, Elaine T; Ataman, Bulent; Coulter, Michael E; Hill, R Sean; Stevens, Christine R; Schubert, Christian R; ARRA Autism Sequencing Collaboration; Greenberg, Michael E; Gabriel, Stacey B; Walsh, Christopher A	2012	Not Determined
22495311	Create Study	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	Neale, Benjamin M; Kou, Yan; Liu, Li; Ma'ayan, Avi; Samocha, Kaitlin E; Sabo, Aniko; Lin, Chiao-Feng; Stevens, Christine; Wang, Li-San; Makarov, Vladimir; Polak, Paz; Yoon, Seungtai; Maguire, Jared; Crawford, Emily L; Campbell, Nicholas G; Geller, Evan T; Valladares, Otto; Schafer, Chad; Liu, Han; Zhao, Tuo; Cai, Guiqing; Lihm, Jayon; Dannenfelser, Ruth; Jabado, Omar; Peralta, Zuleyma; Nagaswamy, Uma; Muzny, Donna; Reid, Jeffrey G; Newsham, Irene; Wu, Yuanqing; Lewis, Lora; Han, Yi; Voight, Benjamin F; Lim, Elaine; Rossin, Elizabeth; Kirby, Andrew; Flannick, Jason; Fromer, Menachem; Shakir, Khalid; Fennell, Tim; Garimella, Kiran; Banks, Eric; Poplin, Ryan; Gabriel, Stacey; DePristo, Mark; Wimbish, Jack R; Boone, Braden E; Levy, Shawn E; Betancur, Catalina; Sunyaev, Shamil; Boerwinkle, Eric; Buxbaum, Joseph D; Cook Jr, Edwin H; Devlin, Bernie; Gibbs, Richard A; Roeder, Kathryn; Schellenberg, Gerard D; Sutcliffe, James S; Daly, Mark J	April 4, 2012	Not Relevant
22487857	Create Study	Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.	Journal of neuropathology and experimental neurology	Wegiel, Jerzy; Schanen, N Carolyn; Cook, Edwin H; Sigman, Marian; Brown, W Ted; Kuchna, Izabela; Nowicki, Krzysztof; Wegiel, Jarek; Imaki, Humi; Ma, Shuang Yong; Marchi, Elaine; Wierzba-Bobrowicz, Teresa; Chauhan, Abha; Chauhan, Ved; Cohen, Ira L; London, Eric; Flory, Michael; Lach, Boleslaw; Wisniewski, Thomas	May 2012	Not Relevant
22370873	Create Study	Consensus paper: pathological role of the cerebellum in autism.	Cerebellum (London, England)	Fatemi, S Hossein; Aldinger, Kimberly A; Ashwood, Paul; Bauman, Margaret L; Blaha, Charles D; Blatt, Gene J; Chauhan, Abha; Chauhan, Ved; Dager, Stephen R; Dickson, Price E; Estes, Annette M; Goldowitz, Dan; Heck, Detlef H; Kemper, Thomas L; King, Bryan H; Martin, Loren A; Millen, Kathleen J; Mittleman, Guy; Mosconi, Matthew W; Persico, Antonio M; Sweeney, John A; Webb, Sara J; Welsh, John P	September 2012	Not Relevant
22219222	Create Study	The selective serotonin reuptake inhibitor, escitalopram, enhances inhibition of prepotent responding and spatial reversal learning.	Journal of psychopharmacology (Oxford, England)	Brown HD, Amodeo DA, Sweeney JA, Ragozzino ME	November 2012	Not Relevant
22135384	Create Study	The selective M1 muscarinic cholinergic agonist CDD-0102A enhances working memory and cognitive flexibility.	The Journal of pharmacology and experimental therapeutics	Ragozzino ME, Artis S, Singh A, Twose TM, Beck JE, Messer WS	March 2012	Not Relevant
22122410	Create Study	Primary food reward and reward-predictive stimuli evoke different patterns of phasic dopamine signaling throughout the striatum.	The European journal of neuroscience	Brown HD, McCutcheon JE, Cone JJ, Ragozzino ME, Roitman MF	December 2011	Not Relevant
22056750	Create Study	Differences in BTBR T+ tf/J and C57BL/6J mice on probabilistic reversal learning and stereotyped behaviors.	Behavioural brain research	Amodeo DA, Jones JH, Sweeney JA, Ragozzino ME	February 1, 2012	Not Relevant
21996756	Create Study	A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.	Human genetics	Casey, Jillian P; Magalhaes, Tiago; Conroy, Judith M; Regan, Regina; Shah, Naisha; Anney, Richard; Shields, Denis C; Abrahams, Brett S; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Cali, Phil; Correia, Catarina; Corsello, Christina; Coutanche, Marc; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Foley, Suzanne; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Holt, Richard; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Lamb, Janine A; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lord, Catherine; Lund, Sabata C; Maestrini, Elena; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Merikangas, Alison; Miller, Judith; Minopoli, Fiorella; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Nygren, Gudrun; Oliveira, Guiomar; Pagnamenta, Alistair T; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Pickles, Andrew; Pinto, Dalila; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Ragoussis, Jiannis; Roge, Bernadette; Rutter, Michael L; Sequeira, Ana F; Soorya, Latha; Sousa, Inês; Sykes, Nuala; Stoppioni, Vera; Tancredi, Raffaella; Tauber, Maïté; Thompson, Ann P; Thomson, Susanne; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Vorstman, Jacob A S; Wallace, Simon; Wang, Kai; Wassink, Thomas H; White, Kathy; Wing, Kirsty; Wittemeyer, Kerstin; Yaspan, Brian L; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Geschwind, Daniel H; Haines, Jonathan L; Hallmayer, Joachim; Monaco, Anthony P; Nurnberger Jr, John I; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vieland, Veronica J; Wijsman, Ellen M; Green, Andrew; Gill, Michael; Gallagher, Louise; Vicente, Astrid; Ennis, Sean	April 2012	Not Determined
21989804	Create Study	The effects of PRX-07034, a novel 5-HT6 antagonist, on cognitive flexibility and working memory in rats.	Psychopharmacology	Mohler, Eric G; Baker, Phillip M; Gannon, Kimberly S; Jones, Simon S; Shacham, Sharon; Sweeney, John A; Ragozzino, Michael E	April 2012	Not Relevant
21925291	Create Study	Mitochondrial small RNAs that are up-regulated in hippocampus during olfactory discrimination training in mice.	Mitochondrion	Smalheiser NR, Lugli G, Thimmapuram J, Cook EH, Larson J	November 2011	Not Relevant
21881965	Create Study	Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.	Journal of neurodevelopmental disorders	Flores CG, Valcante G, Guter S, Zaytoun A, Wray E, Bell L, Jacob S, Lewis MH, Driscoll DJ, Cook EH, Kim SJ	December 2011	Not Relevant
21760656	Create Study	Estimation and Classification of BOLD Responses Over Multiple Trials.	Communications in statistics: theory and methods	Kapur, Kush; Roy, Anindya; Bhaumik, Dulal K; Gibbons, Robert D; Lazar, Nicole A; Sweeney, John A; Aryal, Subhash; Patterson, Dave	2009	Not Relevant
21753921	Create Study	Hypothesis testing, power and sample size determination for between group comparisons in fMRI experiments.	Statistical methodology	Bhaumik, Dulal K; Roy, Anindya; Lazar, Nicole A; Kapur, Kush; Aryal, Subhash; Sweeney, John A; Patterson, Dave; Gibbons, Robert D	March 2009	Not Relevant
21703496	Create Study	Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders.	Journal of the American Academy of Child and Adolescent Psychiatry	Liu, Xiao-Qing; Georgiades, Stelios; Duku, Eric; Thompson, Ann; Devlin, Bernie; Cook, Edwin H; Wijsman, Ellen M; Paterson, Andrew D; Szatmari, Peter	July 2011	Not Relevant
21609426	Create Study	A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders.	Molecular autism	Kim SJ, Silva RM, Flores CG, Jacob S, Guter S, Valcante G, Zaytoun AM, Cook EH, Badner JA	2011	Not Determined
21522181	Create Study	Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.	European journal of human genetics : EJHG	Anney, Richard J L; Kenny, Elaine M; O'Dushlaine, Colm; Yaspan, Brian L; Parkhomenka, Elena; Buxbaum, Joseph D; Sutcliffe, James; Gill, Michael; Gallagher, Louise; Autism Genome Project; Buxbaum, Joseph D; Sutcliffe, James; Gill, Michael; Gallagher, Louise	October 2011	Not Determined
21484201	Create Study	Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.	Journal of neurodevelopmental disorders	Vieland, Veronica J; Hallmayer, Joachim; Huang, Yungui; Pagnamenta, Alistair T; Pinto, Dalila; Khan, Hameed; Monaco, Anthony P; Paterson, Andrew D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Autism Genome Project (AGP)	June 2011	Not Determined
21302342	Create Study	Parent-of-origin effects of the serotonin transporter gene associated with autism.	American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics	Kistner-Griffin, Emily; Brune, Camille W; Davis, Lea K; Sutcliffe, James S; Cox, Nancy J; Cook Jr, Edwin H	March 2011	Not Relevant
21281720	Create Study	Human reversal learning under conditions of certain versus uncertain outcomes.	NeuroImage	D'Cruz AM, Ragozzino ME, Mosconi MW, Pavuluri MN, Sweeney JA	May 1, 2011	Not Relevant
21232556	Create Study	Differential effects of 5-HT(2A) and 5-HT(2C) receptor blockade on strategy-switching.	Behavioural brain research	Baker PM, Thompson JL, Sweeney JA, Ragozzino ME	May 16, 2011	Not Relevant
21085054	Create Study	Family-based association testing of glutamate transporter genes in autism.	Psychiatric genetics	Jacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJ	August 2011	Not Relevant
21045079	Create Study	Endogenous siRNAs and noncoding RNA-derived small RNAs are expressed in adult mouse hippocampus and are up-regulated in olfactory discrimination training.	RNA (New York, N.Y.)	Smalheiser NR, Lugli G, Thimmapuram J, Cook EH, Larson J	January 2011	Not Relevant
20980596	Create Study	The parafascicular thalamic nucleus concomitantly influences behavioral flexibility and dorsomedial striatal acetylcholine output in rats.	The Journal of neuroscience : the official journal of the Society for Neuroscience	Brown, Holden D; Baker, Phillip M; Ragozzino, Michael E	October 27, 2010	Not Relevant
20844286	Create Study	Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.	Science translational medicine	Noor, Abdul; Whibley, Annabel; Marshall, Christian R; Gianakopoulos, Peter J; Piton, Amelie; Carson, Andrew R; Orlic-Milacic, Marija; Lionel, Anath C; Sato, Daisuke; Pinto, Dalila; Drmic, Irene; Noakes, Carolyn; Senman, Lili; Zhang, Xiaoyun; Mo, Rong; Gauthier, Julie; Crosbie, Jennifer; Pagnamenta, Alistair T; Munson, Jeffrey; Estes, Annette M; Fiebig, Andreas; Franke, Andre; Schreiber, Stefan; Stewart, Alexandre F R; Roberts, Robert; McPherson, Ruth; Guter, Stephen J; Cook Jr, Edwin H; Dawson, Geraldine; Schellenberg, Gerard D; Battaglia, Agatino; Maestrini, Elena; Autism Genome Project Consortium; Jeng, Linda; Hutchison, Terry; Rajcan-Separovic, Evica; Chudley, Albert E; Lewis, Suzanne M E; Liu, Xudong; Holden, Jeanette J; Fernandez, Bridget; Zwaigenbaum, Lonnie; Bryson, Susan E; Roberts, Wendy; Szatmari, Peter; Gallagher, Louise; Stratton, Michael R; Gecz, Jozef; Brady, Angela F; Schwartz, Charles E; Schachar, Russell J; Monaco, Anthony P; Rouleau, Guy A; Hui, Chi-Chung; Lucy Raymond, F; Scherer, Stephen W; Vincent, John B	September 15, 2010	Not Relevant
20679591	Create Study	Neurobehavioral abnormalities in first-degree relatives of individuals with autism.	Archives of general psychiatry	Mosconi, Matthew W; Kay, Margaret; D'Cruz, Anna-Maria; Guter, Stephen; Kapur, Kush; Macmillan, Carol; Stanford, Lisa D; Sweeney, John A	August 2010	Not Relevant
20663923	Create Study	A genome-wide scan for common alleles affecting risk for autism.	Human molecular genetics	Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Sykes, Nuala; Pagnamenta, Alistair T; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Melhem, Nadine M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Miller, Judith; Monaco, Anthony P; Nurnberger Jr, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim	October 15, 2010	Not Determined
20531469	Create Study	Functional impact of global rare copy number variation in autism spectrum disorders.	Nature	Pinto, Dalila; Pagnamenta, Alistair T; Klei, Lambertus; Anney, Richard; Merico, Daniele; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Almeida, Joana; Bacchelli, Elena; Bader, Gary D; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Bryson, Susan E; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chung, Brian H Y; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Cytrynbaum, Cheryl; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Andrew; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Pilorge, Marion; Piven, Joseph; Ponting, Chris P; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Sequeira, Ana F; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stein, Olaf; Sykes, Nuala; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Webber, Caleb; Weksberg, Rosanna; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Wu, Jing; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Devlin, Bernie; Ennis, Sean; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Hallmayer, Joachim; Miller, Judith; Monaco, Anthony P; Nurnberger Jr, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Scherer, Stephen W; Sutcliffe, James S; Betancur, Catalina	July 15, 2010	Not Determined
20089945	Create Study	Thalamic integrity underlies executive dysfunction in traumatic brain injury.	Neurology	Little DM, Kraus MF, Joseph J, Geary EK, Susmaras T, Zhou XJ, Pliskin N, Gorelick PB	February 16, 2010	Not Relevant
20020537	Create Study	A pharmacogenetic study of escitalopram in autism spectrum disorders.	Autism research : official journal of the International Society for Autism Research	Owley T, Brune CW, Salt J, Walton L, Guter S, Ayuyao N, Gibbons RD, Leventhal BL, Cook EH	February 2010	Not Determined
19935738	Create Study	Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.	Molecular psychiatry	Delahanty, R J; Kang, J Q; Brune, C W; Kistner, E O; Courchesne, E; Cox, N J; Cook Jr, E H; Macdonald, R L; Sutcliffe, J S	January 2011	Not Relevant
19404257	Create Study	Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.	Nature	Glessner, Joseph T; Wang, Kai; Cai, Guiqing; Korvatska, Olena; Kim, Cecilia E; Wood, Shawn; Zhang, Haitao; Estes, Annette; Brune, Camille W; Bradfield, Jonathan P; Imielinski, Marcin; Frackelton, Edward C; Reichert, Jennifer; Crawford, Emily L; Munson, Jeffrey; Sleiman, Patrick M A; Chiavacci, Rosetta; Annaiah, Kiran; Thomas, Kelly; Hou, Cuiping; Glaberson, Wendy; Flory, James; Otieno, Frederick; Garris, Maria; Soorya, Latha; Klei, Lambertus; Piven, Joseph; Meyer, Kacie J; Anagnostou, Evdokia; Sakurai, Takeshi; Game, Rachel M; Rudd, Danielle S; Zurawiecki, Danielle; McDougle, Christopher J; Davis, Lea K; Miller, Judith; Posey, David J; Michaels, Shana; Kolevzon, Alexander; Silverman, Jeremy M; Bernier, Raphael; Levy, Susan E; Schultz, Robert T; Dawson, Geraldine; Owley, Thomas; McMahon, William M; Wassink, Thomas H; Sweeney, John A; Nurnberger, John I; Coon, Hilary; Sutcliffe, James S; Minshew, Nancy J; Grant, Struan F A; Bucan, Maja; Cook, Edwin H; Buxbaum, Joseph D; Devlin, Bernie; Schellenberg, Gerard D; Hakonarson, Hakon	May 28, 2009	Not Determined
19404256	Create Study	Common genetic variants on 5p14.1 associate with autism spectrum disorders.	Nature	Wang, Kai; Zhang, Haitao; Ma, Deqiong; Bucan, Maja; Glessner, Joseph T; Abrahams, Brett S; Salyakina, Daria; Imielinski, Marcin; Bradfield, Jonathan P; Sleiman, Patrick M A; Kim, Cecilia E; Hou, Cuiping; Frackelton, Edward; Chiavacci, Rosetta; Takahashi, Nagahide; Sakurai, Takeshi; Rappaport, Eric; Lajonchere, Clara M; Munson, Jeffrey; Estes, Annette; Korvatska, Olena; Piven, Joseph; Sonnenblick, Lisa I; Alvarez Retuerto, Ana I; Herman, Edward I; Dong, Hongmei; Hutman, Ted; Sigman, Marian; Ozonoff, Sally; Klin, Ami; Owley, Thomas; Sweeney, John A; Brune, Camille W; Cantor, Rita M; Bernier, Raphael; Gilbert, John R; Cuccaro, Michael L; McMahon, William M; Miller, Judith; State, Matthew W; Wassink, Thomas H; Coon, Hilary; Levy, Susan E; Schultz, Robert T; Nurnberger, John I; Haines, Jonathan L; Sutcliffe, James S; Cook, Edwin H; Minshew, Nancy J; Buxbaum, Joseph D; Dawson, Geraldine; Grant, Struan F A; Geschwind, Daniel H; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Hakonarson, Hakon	May 28, 2009	Not Relevant
19232577	Create Study	Lateralized response timing deficits in autism.	Biological psychiatry	D'Cruz AM, Mosconi MW, Steele S, Rubin LH, Luna B, Minshew N, Sweeney JA	August 15, 2009	Not Relevant
19154646	Create Study	Impaired inhibitory control is associated with higher-order repetitive behaviors in autism spectrum disorders.	Psychological medicine	Mosconi, M W; Kay, M; D'Cruz, A-M; Seidenfeld, A; Guter, S; Stanford, L D; Sweeney, J A	September 2009	Not Relevant
18954478	Create Study	Patterns of visual sensory and sensorimotor abnormalities in autism vary in relation to history of early language delay.	Journal of the International Neuropsychological Society : JINS	Takarae, Yukari; Luna, Beatriz; Minshew, Nancy J; Sweeney, John A	November 2008	Not Relevant
18923514	Create Study	Copy-number variations associated with neuropsychiatric conditions.	Nature	Cook EH, Scherer SW	October 16, 2008	Not Relevant
18827719	Create Study	Integrating functional brain neuroimaging and developmental cognitive neuroscience in child psychiatry research.	Journal of the American Academy of Child and Adolescent Psychiatry	Pavuluri MN, Sweeney JA	November 2008	Not Relevant
18632090	Create Study	Genome-wide linkage analyses of quantitative and categorical autism subphenotypes.	Biological psychiatry	Liu, Xiao-Qing; Paterson, Andrew D; Szatmari, Peter; Autism Genome Project Consortium	October 2008	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	680	01/15/2009	1,072	05/15/2009	1,072	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	80	01/15/2013	30	04/15/2013	30	Approved
Ravens Coloured Progressive Matrices (CPM)	680	01/15/2009	10	05/15/2009	10	Approved
Genomics/omics	680	01/15/2009	1,009	05/15/2009	1,009	Approved
ABC Community	427	01/15/2011	218	05/15/2011	218	Approved
ADOS	144	08/31/2012	306	12/31/2012	306	Approved
Expressive One-Word Picture Vocabulary Test (2000)	80	01/15/2013	154	04/15/2013	154	Approved
ADI-R	680	01/15/2009	230	05/15/2009	230	Approved
Medical History	680	01/15/2009	201	05/15/2009	201	Approved
Obsessive-Compulsive Inventory - Revised (OCI-R)	80	01/15/2013	48	04/15/2013	48	Approved
Social Responsiveness Scale (SRS)	680	01/15/2009	239	05/15/2009	239	Approved
Wechsler Abbreviated Scale of Intelligence (WASI)	110	01/15/2013	137	04/15/2013	137	Approved
Genetic Test	80	01/15/2013	613	04/15/2013	613	Approved
Social Communication Questionnaire (SCQ)	680	01/15/2009	297	05/15/2009	297	Approved
Broad Autism Phenotype Questionnaire (BAPQ)	138	08/31/2012	318	12/31/2012	318	Approved
Demographics	350	01/15/2013	263	04/15/2013	263	Approved
Clinical Global Impression (CGI)	41	01/15/2013	41	04/15/2013	41	Approved
Tanner Sexual Maturity Scale	195	01/15/2013	146	04/15/2013	146	Approved
DAS-II: Differential Ability Scales	250	01/15/2013	231	04/15/2013	231	Approved
Peabody Picture Vocabulary Test, Fourth Edition	80	01/15/2013	188	04/15/2013	188	Approved
Wechsler Adult Intelligence Scale	2	01/15/2013	2	04/15/2013	2	Approved
Childhood Routines Inventory (CRI)	355	08/31/2012	144	12/31/2012	144	Approved
Repetitive Behavior Scale - Revised (RBS-R)	680	01/15/2009	221	05/15/2009	221	Approved
Preschool Language Scale (PLS)	80	01/15/2013	18	04/15/2013	18	Approved
Physical Exam	80	01/15/2013	252	04/15/2013	252	Approved
Clinical Evaluation of Language Fundamentals (CELF)	409	08/31/2012	89	12/31/2012	89	Approved
Childrens Scale of Hostility and Aggression: Reactive/Proactive	48	01/15/2013	48	04/15/2013	48	Approved
Vineland (Parent and Caregiver)	680	01/15/2009	220	05/15/2009	220	Approved
Imaging (Structural, fMRI, DTI, PET, microscopy)	680	01/15/2009	58	05/15/2009	58	Approved
AURORA Flash Survey Latent Construct Anxiety	1	01/15/2013	2,543	07/15/2013	2,543	Approved

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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.

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Frequently Asked Questions

What is an NDA Data Structure?

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

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

Glossary

Analyzed Data

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

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

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

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

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

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

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

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

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

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

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

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

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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.	260/17423	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.	21/6323	Secondary Analysis	Shared
Examining Diagnostic Trends and Gender Differences in the ADOS-II	Approximately 3–4 boys for every girl meet the clinical criteria for autism in studies of community diagnostic patterns and studies of autism using samples of convenience. However, girls with autism have been hypothesized to be underdiagnosed, possibly because they may present with differing symptom profiles as compared to boys. This secondary data analysis used the National Database of Autism Research (NDAR) to examine how gender and symptom profiles are associated with one another in a gold standard assessment of autism symptoms, the Autism Diagnostic Observation Schedule II (ADOS-II; Lord, C., Luyster, R., Guthrie, W., & Pickles A. (2012a). Patterns of developmental trajectories in toddlers with autism spectrum disorder. Journal of Consulting and Clinical Psychology, 80(3):477–489. https://doi.org/10.1037/a0027214. Epub 2012 Apr 16. PMID: 22506796, PMCID: PMC3365612). ADOS-II scores from 6183 children ages 6–14 years from 78 different studies in the NDAR indicated that gender was a significant predictor of total algorithm, restrictive and repetitive behavioral, and social communicative difficulties composite severity scores. These findings suggest that gender differences in ADOS scores are common in many samples and may reflect on current diagnostic practices.	167/5615	Secondary Analysis	Shared
Gender Differences: Confirmatory Factor Analysis of the ADOS-II	Purpose Recent research has suggested that autism may present differently in girls compared to boys, encouraging the exploration of a sex-differential diagnostic criteria. Gender differences in diagnostic assessments have been shown on the ADOS-II, such that, on average, females score significantly lower than males on all scales and are less likely to show atypicality on most items related to social communicative difficulties. Yet, gender differences in the latent structure of instruments like the ADOS-II have not been examined systematically. Methods As such, this secondary data analysis examined 4,100 youth diagnosed with autism (Mage = 9.9, 813 female & 3287 male) examined item response trends by gender on the ADOS-II Module 3. Results Multi-Group Confirmatory Factor Analysis results show that the factor loadings of four ADOS-II items differ across the genders. One SCD item and one RRB item are strongly related to the latent factor in the female group, while two RRB items have larger factor loadings in the male group. Conclusion The assumption of an identical latent factor structure for the ADOS-II Module 3 for males and females might not be justifiable. Possible diagnostic implications are discussed.	167/5615	Secondary Analysis	Shared
Prognostic early snapshot stratification of autism based on adaptive functioning	A major goal of precision medicine is to predict prognosis based on individualized information at the earliest possible points in development. Using early snapshots of adaptive functioning and unsupervised data- driven discovery methods, we uncover highly stable early autism subtypes that yield information relevant to later prognosis. Data from the National Institute of Mental Health Data Archive (NDA) (n = 1,098) was used to uncover three early subtypes (<72 months) that generalize with 96% accuracy. Outcome data from NDA (n = 2,561; mean age, 13 years) also reproducibly clusters into three subtypes with 99% generalization accuracy. Early snapshot subtypes predict developmental trajectories in non-verbal cognitive, language and motor domains and are predictive of membership in different adaptive functioning outcome subtypes. Robust and prognosis- relevant subtyping of autism based on early snapshots of adaptive functioning may aid future research work via prediction of these subtypes with our reproducible stratification model.	178/3517	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.	303/3382	Secondary Analysis	Shared
Psychometric Analysis of the Social Communication Questionnaire Using an Item-Response Theory Framework: Implications for the Use of the Lifetime and Current Forms	The Social Communication Questionnaire (SCQ) was developed as a screener of Autism Spectrum Disorder (ASD). To date, the majority of the SCQ utility studies focused on its external validity (e.g., ROC curve analyses), but very few have addressed the internal validity issues. With samples consisting of 2,134 individuals available from the National Database for Autism Research (NDAR), the current study examined the factor structure, item-level characteristics, and measurement equivalence of the SCQ forms (i.e., Lifetime form and Current form) using both the classical true score theory and the item response theory (IRT). While our findings indicate sufficient psychometric properties of the SCQ Lifetime form, measurement issues emerged with respect to the SCQ Current form. These issues include lower internal consistencies, a weaker factor structure, lower item discriminations, significant pseudo-guessing effects, and subscale-level measurement bias. Thus, we caution researchers and clinicians about the use of the SCQ Current form. In particular, it seems inappropriate to use the Current form as an alternative to the Lifetime form among children younger than 5 years old or under other special situations (e.g., teacher-report data), although such practices were advised by the publisher of the SCQ. Instead, we recommend modifying the wording of the Lifetime form items rather than switching to the Current form where a 3-month timeframe is specified for responding to SCQ items. Future studies may consider investigating the association between the temporality of certain behaviors and the individual’s potential for being diagnosed with ASD, as well as the age neutrality of the SCQ.	295/2054	Secondary Analysis	Shared
Unravelling the Collective Diagnostic Power Behind the Features in the Autism Diagnostic Observation Schedule	Background: Autism is a group of heterogeneous disorders defined by deficits in social interaction and communication. Typically, diagnosis depends on the results of a behavioural examination called the Autism Diagnostic Observation Schedule (ADOS). Unfortunately, administration of the ADOS exam is time-consuming and requires a significant amount of expert intervention, leading to delays in diagnosis and access to early intervention programs. The diagnostic power of each feature in the ADOS exam is currently unknown. Our hypothesis is that certain features could be removed from the exam without a significant reduction in diagnostic accuracy, sensitivity or specificity. Objective: Determine the smallest subset of predictive features in ADOS module-1 (an exam variant for patients with minimal verbal skills). Methodology: ADOS module-1 datasets were acquired from the Autism Genetic Resource Exchange and the National Database for Autism Research. The datasets contained 2572 samples with the following labels: autism (1763), autism spectrum (513), and non-autism (296). The datasets were used as input to 4 different cost-sensitive classifiers in Weka (functional trees, LADTree, logistic model trees, and PART). For each classifier, a 10-fold cross validation was preformed and the number of predictive features, accuracy, sensitivity, and specificity was recorded. Results & Conclusion: Each classifier resulted in a reduction of the number of ADOS features required for autism diagnosis. The LADtree classifier was able to obtain the largest reduction, utilizing only 10 of 29 ADOS module-1 features (96.8% accuracy, 96.9% sensitivity, and 95.9% specificity). Overall, these results are a step towards a more efficient behavioural exam for autism diagnosis.	44/1832	Secondary Analysis	Shared
Imbalanced social-communicative and restricted repetitive behavior subtypes in autism spectrum disorder exhibit different neural circuitry	Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97–99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.	159/1708	Secondary Analysis	Shared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using C-PAC pipeline and ANTs	An automated pipeline was developed to reference Neuroimages hosted by the National Database for Autism Research (NDAR) and derive volumes for distinct brain structures using Advanced Normalization Tools (ANTs) and the Configurable-Pipeline for the Analysis of Connectomes (C-PAC) platform. This pipeline utilized the ANTs cortical thickness methodology discuessed in "Large-Scale Evaluation of ANTs and Freesurfer Cortical Tchickness Measurements" [http://www.ncbi.nlm.nih.gov/pubmed/24879923] to extract a cortical thickness volume from T1-weighted anatomical MRI data gathered from the NDAR database. This volume was then registered to an stereotaxic-space anatomical template (OASIS-30 Atropos Template) which was acquired from the Mindboggle Project webpage [http://mindboggle.info/data.html]. After registration, the mean cortical thickness was calculated at 31 ROIs on each hemisphere of the cortex and using the Desikan-Killiany-Tourville (DKT-31) cortical labelling protocol [http://mindboggle.info/faq/labels.html] over the OASIS-30 template. NOTE: This study is ongoing; additional data my be available in the future. As a result, each subject that was processed has a cortical thickness volume image and a text file with the mean thickness ROIs (in mm) stored in Amazon Web Services (AWS) Simple Storage Service (S3). Additionally, these results were tabulated in an AWS-hosted database (through NDAR) to enable simple, efficient querying and data access. All of the code used to perform this analysis is publicly available on Github [https://github.com/FCP-INDI/ndar-dev]. Additionally, as a computing platform, we developed an Amazon Machine Image (AMI) that comes fully equipped to run this pipeline on any dataset. Using AWS Elastic Cloud Computing (EC2), users can launch our publicly available AMI ("C-PAC with benchmark", AMI ID: "ami-fee34296", N. Virginia region) and run the ANTs cortical thickness pipeline. The AMI is fully compatible with Sun Grid Engine as well; this enables users to perform many pipeline runs in parallel over a cluster-computing framework.	2/1428	Secondary Analysis	Shared
Automated Autism Diagnosis using Phenotypic and Genotypic Attributes: Phase I	The ultimate goal of this project is to develop a predictive system that can automate the diagnosis process for autism using phenotypic and genotypic attributes for classification. At this time, only a first phase is being pursued: starting with scores from Autism Diagnostic Observation Schedule (ADOS) reports, use data-mining techniques to select the smallest set of the most informative evaluation points that can lead to similar behavioral diagnoses as using all report features. The effort began in March, 2016 after data access to NDAR was granted. This report describes the results from that date through the end of December 2016.	42/1045	Secondary Analysis	Shared
Revising the Social Communication Questionnaire scoring procedures for Autism Spectrum Disorder and potential Social Communication Disorder	In analyzing data from the National Database for Autism Research, we examine revising the Social Communication Questionnaire (SCQ), a commonly used screening instrument for Autism Spectrum Disorder. A combination of Item Response Theory and Mokken scaling techniques were utilized to achieve this and abbreviated scoring of the SCQ is suggested. The psychometric sensitivity of this abbreviated SCQ was examined via bootstrapped Receiver Operator Characteristic (ROC) curve analyses. Additionally, we examined the sensitivity of the abbreviated and total scaled SCQ as it relates to a potential diagnosis of Social (Pragmatic) Communication Disorder (SCD). As SCD is a new disorder introduced with the fifth edition of the Diagnostic and Statistical Manual (DSM-5), we identified individuals with potential diagnosis of SCD among individuals with ASD via mixture modeling techniques using the same NDAR data. These analyses revealed two classes or clusters of individuals when considering the two core areas of impairment among individuals with ASD: social communication and restricted, repetitive patterns of behavior.	270/889	Secondary Analysis	Shared
Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findings	Females with autism spectrum disorder (ASD) have been long overlooked in neuroscience research, but emerging evidence suggests they show distinct phenotypic trajectories and age-related brain differences. Sex-related biological factors (e.g., hormones, genes) may play a role in ASD etiology and have been shown to influence neurodevelopmental trajectories. Thus, a lifespan approach is warranted to understand brain-based sex differences in ASD. This systematic review on MRI-based sex differences in ASD was conducted to elucidate variations across the lifespan and inform biomarker discovery of ASD in females. We identified articles through two database searches. Fifty studies met criteria and underwent integrative review. We found that regions expressing replicable sex-by-diagnosis differences across studies overlapped with regions showing sex differences in neurotypical (NT) cohorts, in particular regions showing NT male>female volumes. Furthermore, studies investigating age-related brain differences across a broad age-span suggest distinct neurodevelopmental patterns in females with ASD. Qualitative comparison across youth and adult studies also supported this hypothesis. However, many studies collapsed across age, which may mask differences. Furthermore, accumulating evidence supports the female protective effect in ASD, although only one study examined brain circuits implicated in “protection.” When synthesized with the broader literature, brain-based sex differences in ASD may come from various sources, including genetic and endocrine processes involved in brain “masculinization” and “feminization” across early development, puberty, and other lifespan windows of hormonal transition. Furthermore, sex-related biology may interact with peripheral processes, in particular the stress axis and brain arousal system, to produce distinct neurodevelopmental patterns in males and females with ASD. Future research on neuroimaging-based sex differences in ASD would benefit from a lifespan approach in well-controlled and multivariate studies. Possible relationships between behavior, sex hormones, and brain development in ASD remain largely unexamined.	40/759	Secondary Analysis	Shared
Derivation of Brain Structure Volumes from MRI Neuroimages hosted by NDAR using LONI Workflows	LONI utilized de-identified data from NDAR's cloud and a LONI Pipeline (pipeline.loni.usc.edu) processing workflow to perform a secondary structural MRI examination. The workflow used in this study pulls data from and provided by NDAR to an instance on the LONI compute cluster, aligns data to a standard orientation using FSLreorient2stsd, and undergoes further image processing to eventually identify, extract, and analyze cortical and sub-cortical structures in different MRI brain volumes. Two methods were used for this image processing: the first uses Freesurfer Recon_All to extract brain cortical parcellation and surfaces, align the data to an atlas, and identify, and analyze regions of interest; the second uses FSL to extract the brain (BET), align the data to an atlas, and extract ROIs including sub-cortical regions using FSL FIRST. The second method also uses Freesurfer (mri_segstats) to perform statistical analysis of these ROIs. Lastly, the LONI Pipeline workflow updates and returns the data processed and extracted by Freesurfer and FSL as a miNDAR back to NDAR's cloud storage instance. These results can be used to assess quality control or be used to perform post-hoc comparisons of cortical and sub-cortical brain architecture between subject types. See also, Torgerson et al. (2015) Brain Imaging and Behavior, for additional details on using LONI Pipeline to access and process NDAR data.	2/740	Secondary Analysis	Shared
Predictors of self-injurious behaviour exhibited by individuals with autism spectrum disorder	Presence of an autism spectrum disorder is a risk factor for development of self-injurious behaviour (SIB) exhibited by individuals with developmental disorders. The most salient SIB risk factors historically studied within developmental disorders are level of intellectual disability, communication deficits and presence of specific genetic disorders. Recent SIB research has expanded the search for risk factors to include less commonly studied variables for people with developmental disorders: negative affect, hyperactivity and impulsivity.	324/589	Secondary Analysis	Shared
Variants in adjacent oxytocin/vasopressin gene region and associations with ASD diagnosis and autism related endophenotypes	Background: There has been increasing interest in oxytocin (peptide: OT, gene: OXT) as a treatment pathway for neurodevelopmental disorders such as Autism Spectrum Disorder (ASD). Neurodevelopmental disorders affect functional, social, and intellectual abilities. With advances in molecular biology, research has connected multiple gene regions to the clinical presentation of ASD. Studies have also shown that the neuropeptide hormones OT and arginine vasopressin (AVP) influence mammalian social and territorial behaviors and may have treatment potential for neurodevelopmental disorders. Published data examining molecular and phenotypic variation in ASD, such as cognitive abilities, are limited. Since most studies have focused on the receptors in the OT-AVP system, we investigated genetic variation within peptide genes for association with phenotypic ASD features that help identify subgroups within the spectrum. Methods: In this study, TDT analysis was carried out utilizing FBAT in 207 probands (156 trios) and a European Ancestry (EA) subsample (108 trios). The evolutionarily related and adjacent genes of OXT and AVP were studied for associations between the tagged single nucleotide polymorphisms and ASD diagnosis, social abilities, restrictive and repetitive behaviors, and IQ for cognitive abilities. Additionally, relationships with whole blood serotonin (WB5HT) were explored because of the developmental relationships connecting plasma levels of OT and WB5HT within ASD. Results: Results indicate significant association between OXT rs6084258 (p=0.001) and ASD. Associations with several intermediate phenotypes were also noted: OXT rs6133010 was associated with IQ (full scale IQ, p=0.008; nonverbal IQ, p=0.009, verbal IQ, p=0.006); and OXT rs6084258 and OXT rs877172 were associated with WB5HT levels (EA, p=0.029 and p=0.050, respectively). Additionally, we measured plasma OT (pOT) levels in a subsample (N=54). Results show the same two polymorphisms, OXT rs877172 and OXT rs6084258, have significant association with pOT (EA, p=0.002 and p=0.011, respectively). Conclusions: These findings suggest that SNPs near OXT and AVP are associated with diagnosis of ASD, social behaviors, restricted and repetitive behaviors, IQ, pOT, and WB5HT. Future studies need to replicate these findings and examine gene-interactions in other neurodevelopmental disorders. Mechanisms of action may influence early social and cognitive development that may or may not be limited to ASD diagnosis.	528/565	Primary Analysis	Shared
ASD and genetic associations with receptors for oxytocin and vasopressin – AVPR1A, AVPR1B, and OXTR	Background: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as, ASD-related phenotypes. Researchers have also found the manipulation of these systems affect social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken. In this study, we examined associations between variants in the receptor genes of vasopressin (AVPR1A, AVPR1B), oxytocin (OXTR) and ASD diagnosis along with related subphenotypes. Methods: Probands were assessed using Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and clinical DSM-IV-TR criteria. Single nucleotide polymorphisms (SNPs) in AVPR1B and OXTR, and microsatellites in AVPR1A were genotyped in ~200 families with a proband with ASD. Family-based association testing (FBAT) was utilized to determine associations between variants and ASD. Haplotypes composed of OXTR SNPs (i.e. rs53576-rs2254298-rs2268493) were also analyzed due to previously published associations. Results: Using the additive inheritance model in FBAT we found associations between AVPR1B SNPs (rs28632197, p=0.005, rs35369693, p=0.025) and diagnosis. As in other studies, OXTR rs2268493 (p=0.050) was associated with diagnosis. rs2268493 was also associated with ASD subphenotypes of social withdrawal (p=0.013) and insistence on sameness (p=0.039). Further analyses demonstrated that the haplotype, rs2254298-rs2268493 was found to be significantly associated with diagnosis (A-T; p=0.026). FBAT was also used to analyze AVPR1A microsatellites (RS1 and RS3). Both length variants were found to be associated with restrictive, repetitive behaviors, but not overall diagnosis. Correction for multiple comparisons was performed for SNPs tested in each gene region, only AVPR1B SNPs remained significantly associated with ASD diagnosis. Conclusions: Autism is a heterogeneous disorder with many genes and pathways that contribute to its development. SNPs and microsatellites in the receptor genes of OT and AVP are associated with ASD diagnosis and measures of social behavior as well as restricted repetitive behaviors. We reported a novel association with ASD and AVPR1B SNPs. Understanding of genotype-phenotype relationships may be helpful in the development of pharmacological interventions for the OT/AVP system.	490/490	Primary Analysis	Shared
Face-processing performance is an independent predictor of social affect as measured by the Autism Diagnostic Observation Schedule across large-scale datasets	Face-processing deficits, while not required for the diagnosis of Autism Spectrum Disorder (ASD), have been associated with impaired social skills—a core feature of ASD; however, the strength and prevalence of this relationship remains unclear. Across 445 participants from the NIMH Data Archive, we examined the relationship between Benton Face Recognition Test (BFRT) performance and Autism Diagnostic Observation Schedule-Social Affect (ADOS-SA) scores. Lower BFRT scores (worse face-processing performance) were associated with higher ADOS-SA scores (higher ASD severity)–a relationship that held after controlling for other factors associated with face processing, i.e., age, sex, and IQ. These findings underscore the utility of face discrimination, not just recognition of facial emotion, as a key covariate for the severity of symptoms that characterize ASD.	1/445	Secondary Analysis	Shared
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.	Background: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers is an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown. Methods: In this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parents-proband trios with most (107) probands having 5-HT measurements. Results: Combined with published ASD DNVs, we identified USP15 as having recurrent de novo gene with loss of function mutations, and provided evidence supporting two other known genes with recurrent DNVs (FOXP1 and KDM5B). Genes harboring functional DNVs significantly overlap with functional/disease gene sets known to be involved in ASD etiology, including FMRP targets and synaptic formation and transcriptional regulation genes. We dichotomized the probands into High-5HT and Normal-5HT groups based on normalized serotonin levels and identified novel genes related to the TGF- pathway in the High-5HT group using Network-based Gene Enrichment Analysis (NGSEA). Through analysis of rare recessively acting variants (RAVs), we found that rare compound heterozygotes (CHs) in the High-5HT group were enriched for loci in an ASD-associated gene set. Finally, we carried out rare variant group-wise transmission disequilibrium tests and observed significant association of rare variants in genes encoding the serotonin pathway with ASD. Conclusions: Our study identified novel genes harboring DNVs implicated in ASD. Leveraging 5-HT as an endophenotype, we identified genes pointing to the TGF- pathway as potentially contributing to hyperserotonemia in ASD. Our study demonstrates the value of 5-HT as an effective endophenotype for gene discovery in ASD, evincing the need for greater collection of proband 5-HT data for future ASD genetics studies.	340/348	Primary Analysis	Shared
The Sensitivity and Specificity of the Social Communication Questionnaire for Autism Spectrum Disorder with Respect to Age	Scientific Abstract The Social Communication Questionnaire (SCQ) assesses communication skills and social functioning in screening for symptoms of autism-spectrum disorder (ASD). The SCQ is recommended for individuals between 4 to 40 years with a cutoff score of 15 for referral. Mixed findings have been reported regarding the recommended cutoff score’s ability to accurately classify an individual as at-risk for ASD (sensitivity) versus an individual as not at-risk for ASD (specificity). Based on a sample from the National Database for Autism Research (n=344; age: 1.58 to 25.92 years old), the present study examined the SCQ’s sensitivity versus specificity across a range of ages. We recommend that the cutoff scores for the SCQ be re-evaluated with age as a consideration. Lay Abstract The age neutrality of the Social Communication Questionnaire (SCQ) was examined as a common screener for ASD. Mixed findings have been reported regarding the recommended cutoff score’s ability to accurately classify an individual as at-risk for ASD (sensitivity) versus accurately classifying an individual as not at-risk for ASD (specificity). With a sample from the National Database for Autism Research, the present study examined the SCQ’s sensitivity versus specificity. Analyses indicated that the actual sensitivity and specificity scores were lower than initially reported by the creators of the SCQ.	3/339	Secondary Analysis	Shared
Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder	Elevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD.	128/128	Secondary Analysis	Shared
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study	Nuclear receptor group 2 family 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. This study describes the clinical and neurocognitive features of an individual with a de novo nonsense variant in NR2F1 (NM_005654.5:c.82C>T, p.Gln28*), identified by whole exome sequencing. The patient was diagnosed with autism spectrum disorder (ASD) and unlike most previously reported cases, he had no developmental delay, superior verbal abilities (verbal IQ = 141), and high educational attainment despite reduced nonverbal abilities (nonverbal IQ = 63). He had optic nerve hypoplasia without visual impairment as well as mild dysmorphic features. Compared to both age-matched individuals with ASD and healthy controls, the patient showed reductions in manual motor speed, accuracy of saccadic eye movements, and rates of successful behavioral response inhibition. Although the majority of previously reported cases of BBSOAS have been associated with more global intellectual dysfunction, we report on a patient with selective disruption of nonverbal abilities and superior verbal abilities.	12/12	Primary Analysis	Shared

* Data not on individual level

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