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

Request Submission Exemption

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

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A Comprehensive Approach to Identification of Autism Susceptibility Genes with the AGRE Center for Genomic and Phenomic Studies in Autism #7

General
Experiments (0)
Shared Data
Publications (191)
Associated Studies (2)

Collection Title	Collection Investigators	Collection Description
Collection Title:	A Comprehensive Approach to Identification of Autism Susceptibility Genes with the AGRE Center for Genomic and Phenomic Studies in Autism
Collection Investigators:	Clara Lajonchere and Dan Geschwind
Collection Description:	AGRE is a DNA repository and family registry, housing a database of genotypic and phenotypic information that is available to autism researchers worldwide.
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:	$20,880,898.00
Subjects Shared:	671

{"values":[]}

{"values":[["Typical Control",6],["Autism Spectrum Affected",17],["Autism Spectrum Severely Affected",417]]}

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
U24MH081810-01	Center for Genomic and Phenomic Studies in Autism	09/28/2007	05/31/2012	6000	2992	UNIVERSITY OF SOUTHERN CALIFORNIA	$6,295,992.00
R01MH081754-01	A Comprehensive Approach to Identification of Autism Susceptibility Genes	04/01/2008	03/24/2013	1200	1073	UNIVERSITY OF CALIFORNIA LOS ANGELES	$14,584,906.00

Clinical Trials:

helpcenter.collection.general-tab

Collection - General Tab

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

Collection Title
Investigators
Collection Description
Collection Phase
Funding Source
Clinical Trials

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

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

Blinded Clinical Trial Status:

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

Funding Source

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

Supporting Documentation

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

Grant Information

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

Clinical Trials

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

Frequently Asked Questions

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

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

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

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

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

Glossary

Administrator Privilege

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

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

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

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

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

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

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

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

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

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

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

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

Contact NDA Help Desk

ID	Name	Created Date	Status	Type
No records found.

helpcenter.collection.experiments-tab

Collection - Experiments

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

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

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

Frequently Asked Questions

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

Glossary

Experiment Status

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

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

Contact NDA Help Desk

Shared Data:

Title	Type	Number of Subjects
Autism Diagnostic Interview, Revised (ADI-R)	Clinical Assessments	489
Autism Diagnostic Observation Schedule (ADOS)- Module 1	Clinical Assessments	135
Autism Diagnostic Observation Schedule (ADOS)- Module 2	Clinical Assessments	76
Autism Diagnostic Observation Schedule (ADOS)- Module 3	Clinical Assessments	206
Autism Diagnostic Observation Schedule (ADOS)- Module 4	Clinical Assessments	42
Child Eyes Test (2006)	Clinical Assessments	45
Delis-Kaplan Executive Function System - Tower Test	Clinical Assessments	17
Karyotype	Clinical Assessments	224
Ravens Coloured Progressive Matrices (CPM)	Clinical Assessments	330
Repetitive Behavior Scales - Early Childhood Supplement	Clinical Assessments	244
Smarties Task (2005)	Clinical Assessments	36
Social Responsiveness Scale (SRS) - Preschool Version	Clinical Assessments	2
Stanford-Binet Intelligence Scales, Fifth Edition (SB5)	Clinical Assessments	299
Vineland-II - Parent and Caregiver Rating Form (2005)	Clinical Assessments	391

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
37879860	Create Study	Localizing unmapped sequences with families to validate the Telomere-to-Telomere assembly and identify new hotspots for genetic diversity.	Genome research	Chrisman, Brianna; He, Chloe; Jung, Jae-Yoon; Stockham, Nate; Paskov, Kelley; Washington, Peter; Petereit, Juli; Wall, Dennis P	October 1, 2023	Not Determined
37506195	Create Study	The contributions of rare inherited and polygenic risk to ASD in multiplex families.	Proceedings of the National Academy of Sciences of the United States of America	Cirnigliaro, Matilde; Chang, Timothy S; Arteaga, Stephanie A; Pérez-Cano, Laura; Ruzzo, Elizabeth K; Gordon, Aaron; Bicks, Lucy K; Jung, Jae-Yoon; Lowe, Jennifer K; Wall, Dennis P; Geschwind, Daniel H	August 1, 2023	Not Determined
36566197	Create Study	Transmission dynamics of human herpesvirus 6A, 6B and 7 from whole genome sequences of families.	Virology journal	Chrisman, Brianna S; He, Chloe; Jung, Jae-Yoon; Stockham, Nate; Paskov, Kelley; Wall, Dennis P	December 24, 2022	Not Determined
35701436	Create Study	The human "contaminome": bacterial, viral, and computational contamination in whole genome sequences from 1000 families.	Scientific reports	Chrisman, Brianna; He, Chloe; Jung, Jae-Yoon; Stockham, Nate; Paskov, Kelley; Washington, Peter; Wall, Dennis P	June 14, 2022	Not Determined
34504056	Create Study	Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.	Translational psychiatry	Tierney, Elaine; Remaley, Alan T; Thurm, Audrey; Jager, Leah R; Wassif, Christopher A; Kratz, Lisa E; Bailey-Wilson, Joan E; Bukelis, Irena; Sarphare, Geeta; Jung, Eun Sol; Brand, Boudewien; Noah, Kelly K; Porter, Forbes D	September 9, 2021	Not Determined
34312540	Create Study	Recent ultra-rare inherited variants implicate new autism candidate risk genes.	Nature genetics	Wilfert, Amy B; Turner, Tychele N; Murali, Shwetha C; Hsieh, PingHsun; Sulovari, Arvis; Wang, Tianyun; Coe, Bradley P; Guo, Hui; Hoekzema, Kendra; Bakken, Trygve E; Winterkorn, Lara H; Evani, Uday S; Byrska-Bishop, Marta; Earl, Rachel K; Bernier, Raphael A; SPARK Consortium; Zody, Michael C; Eichler, Evan E	August 1, 2021	Not Determined
34292447	Create Study	Using Clustering to Examine Inter-individual Variability in Topography of Auditory Event-Related Potentials in Autism and Typical Development.	Brain topography	Dwyer, Patrick; Wang, Xiaodong; De Meo-Monteil, Rosanna; Hsieh, Fushing; Saron, Clifford D; Rivera, Susan M	September 1, 2021	Not Determined
33781752	Create Study	Effects of age on loudness-dependent auditory ERPs in young autistic and typically-developing children.	Neuropsychologia	Dwyer, Patrick; De Meo-Monteil, Rosanna; Saron, Clifford D; Rivera, Susan M	June 18, 2021	Not Determined
32944065	Create Study	Identification of Longitudinal Sensory Subtypes in Typical Development and Autism Spectrum Development Using Growth Mixture Modelling.	Research in autism spectrum disorders	Dwyer, Patrick; Saron, Clifford D; Rivera, Susan M	October 1, 2020	Not Determined
32820185	Create Study	Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.	Scientific reports	Schmitz-Abe, Klaus; Sanchez-Schmitz, Guzman; Doan, Ryan N; Hill, R Sean; Chahrour, Maria H; Mehta, Bhaven K; Servattalab, Sarah; Ataman, Bulent; Lam, Anh-Thu N; Morrow, Eric M; Greenberg, Michael E; Yu, Timothy W; Walsh, Christopher A; Markianos, Kyriacos	August 2020	Not Determined
32539866	Create Study	Defining clusters of young autistic and typically developing children based on loudness-dependent auditory electrophysiological responses.	Molecular autism	Dwyer, Patrick; Wang, Xiaodong; De Meo-Monteil, Rosanna; Hsieh, Fushing; Saron, Clifford D; Rivera, Susan M	June 2020	Not Determined
31398340	Create Study	Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.	Cell	Ruzzo, Elizabeth K; Pérez-Cano, Laura; Jung, Jae-Yoon; Wang, Lee-Kai; Kashef-Haghighi, Dorna; Hartl, Chris; Singh, Chanpreet; Xu, Jin; Hoekstra, Jackson N; Leventhal, Olivia; Leppä, Virpi M; Gandal, Michael J; Paskov, Kelley; Stockham, Nate; Polioudakis, Damon; Lowe, Jennifer K; Prober, David A; Geschwind, Daniel H; Wall, Dennis P	August 2019	Not Determined
31303374	Create Study	A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation.	Neuron	Polioudakis, Damon; de la Torre-Ubieta, Luis; Langerman, Justin; Elkins, Andrew G; Shi, Xu; Stein, Jason L; Vuong, Celine K; Nichterwitz, Susanne; Gevorgian, Melinda; Opland, Carli K; Lu, Daning; Connell, William; Ruzzo, Elizabeth K; Lowe, Jennifer K; Hadzic, Tarik; Hinz, Flora I; Sabri, Shan; Lowry, William E; Gerstein, Mark B; Plath, Kathrin; Geschwind, Daniel H	September 2019	Not Determined
31279534	Create Study	Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.	Biological psychiatry	Bodkin, J Alexander; Coleman, Michael J; Godfrey, Laura J; Carvalho, Claudia M B; Morgan, Charity J; Suckow, Raymond F; Anderson, Thea; Öngür, Dost; Kaufman, Marc J; Lewandowski, Kathryn E; Siegel, Arthur J; Waldstreicher, Elliot; Grochowski, Christopher M; Javitt, Daniel C; Rujescu, Dan; Hebbring, Scott; Weinshilboum, Richard; Rodriguez, Stephanie Burgos; Kirchhoff, Colette; Visscher, Timothy; Vuckovic, Alexander; Fialkowski, Allison; McCarthy, Shane; Malhotra, Dheeraj; Sebat, Jonathan; Goff, Donald C; Hudson, James I; Lupski, James R; Coyle, Joseph T; Rudolph, Uwe; Levy, Deborah L	October 2019	Not Determined
31275178	Create Study	Opposite Expression Patterns of Spry3 and p75NTR in Cerebellar Vermis Suggest a Male-Specific Mechanism of Autism Pathogenesis.	Frontiers in psychiatry	Ning, Zhenfei; Williams, John M; Kumari, Romika; Baranov, Pavel V; Moore, Tom	January 1, 2019	Not Determined
31157516	Create Study	Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly.	Autism research : official journal of the International Society for Autism Research	De Meo-Monteil R, Nordahl CW, Amaral DG, Rogers SJ, Harootonian SK, Martin J, Rivera SM, Saron CD	August 2019	Not Determined
30921354	Create Study	Phenotypic subgrouping and multi-omics analyses reveal reduced diazepam-binding inhibitor (DBI) protein levels in autism spectrum disorder with severe language impairment.	PloS one	Pichitpunpong, Chatravee; Thongkorn, Surangrat; Kanlayaprasit, Songphon; Yuwattana, Wasana; Plaingam, Waluga; Sangsuthum, Siriporn; Aizat, Wan Mohd; Baharum, Syarul Nataqain; Tencomnao, Tewin; Hu, Valerie Wailin; Sarachana, Tewarit	January 2019	Not Determined
30901538	Create Study	Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders.	Cell	Sullivan, Patrick F; Geschwind, Daniel H	March 2019	Not Determined
30270033	Create Study	Extra-axial cerebrospinal fluid in high-risk and normal-risk children with autism aged 2-4 years: a case-control study.	The lancet. Psychiatry	Shen, Mark D; Nordahl, Christine W; Li, Deana D; Lee, Aaron; Angkustsiri, Kathleen; Emerson, Robert W; Rogers, Sally J; Ozonoff, Sally; Amaral, David G	November 2018	Not Determined
30036398	Create Study	Investigation of epigenetic regulatory networks associated with autism spectrum disorder (ASD) by integrated global LINE-1 methylation and gene expression profiling analyses.	PloS one	Tangsuwansri C, Saeliw T, Thongkorn S, Chonchaiya W, Suphapeetiporn K, Mutirangura A, Tencomnao T, Hu VW, Sarachana T	January 2018	Not Determined
29931155	Create Study	Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources.	Briefings in bioinformatics	Sulakhe D, D'Souza M, Wang S, Balasubramanian S, Athri P, Xie B, Canzar S, Agam G, Gilliam TC, Maltsev N	September 2019	Not Determined
29850803	Create Study	A Longitudinal Study of Local Gyrification Index in Young Boys With Autism Spectrum Disorder.	Cerebral cortex (New York, N.Y. : 1991)	Libero, Lauren E; Schaer, Marie; Li, Deana D; Amaral, David G; Nordahl, Christine Wu	June 2019	Not Determined
29553459	Create Study	Air Toxics in Relation to Autism Diagnosis, Phenotype, and Severity in a U.S. Family-Based Study.	Environmental health perspectives	Kalkbrenner AE, Windham GC, Zheng C, Mcconnell R, Lee NL, Schauer JJ, Thayer B, Pandey J, Volk HE	March 2018	Not Determined
28630177	Create Study	Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.	Genome research	Evrony, Gilad D; Cordero, Dwight R; Shen, Jun; Partlow, Jennifer N; Yu, Timothy W; Rodin, Rachel E; Hill, R Sean; Coulter, Michael E; Lam, Anh-Thu N; Jayaraman, Divya; Gerrelli, Dianne; Diaz, Diana G; Santos, Chloe; Morrison, Victoria; Galli, Antonella; Tschulena, Ulrich; Wiemann, Stefan; Martel, M Jocelyne; Spooner, Betty; Ryu, Steven C; Elhosary, Princess C; Richardson, Jillian M; Tierney, Danielle; Robinson, Christopher A; Chibbar, Rajni; Diudea, Dana; Folkerth, Rebecca; Wiebe, Sheldon; Barkovich, A James; Mochida, Ganeshwaran H; Irvine, James; Lemire, Edmond G; Blakley, Patricia; Walsh, Christopher A	August 2017	Not Determined
28628100	Create Study	Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.	Nature neuroscience	Geisheker, Madeleine R; Heymann, Gabriel; Wang, Tianyun; Coe, Bradley P; Turner, Tychele N; Stessman, Holly A F; Hoekzema, Kendra; Kvarnung, Malin; Shaw, Marie; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Thompson, Elizabeth M; Haan, Eric; Guo, Hui; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Vandeweyer, Geert; Alberti, Antonino; Avola, Emanuela; Vinci, Mirella; Giusto, Stefania; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Michaelson, Jacob J; Sedlacek, Zdenek; Santen, Gijs W E; Peeters, Hilde; Hakonarson, Hakon; Courchesne, Eric; Romano, Corrado; Kooy, R Frank; Bernier, Raphael A; Nordenskjöld, Magnus; Gecz, Jozef; Xia, Kun; Zweifel, Larry S; Eichler, Evan E	August 2017	Relevant
28301102	Create Study	Neural correlates of language variability in preschool-aged boys with autism spectrum disorder.	Autism research : official journal of the International Society for Autism Research	Naigles, Letitia R; Johnson, Ryan; Mastergeorge, Ann; Ozonoff, Sally; Rogers, Sally J; Amaral, David G; Nordahl, Christine Wu	June 2017	Not Determined
28191889	Create Study	Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.	Nature genetics	Stessman, Holly A F; Xiong, Bo; Coe, Bradley P; Wang, Tianyun; Hoekzema, Kendra; Fenckova, Michaela; Kvarnung, Malin; Gerdts, Jennifer; Trinh, Sandy; Cosemans, Nele; Vives, Laura; Lin, Janice; Turner, Tychele N; Santen, Gijs; Ruivenkamp, Claudia; Kriek, Marjolein; van Haeringen, Arie; Aten, Emmelien; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Haan, Eric; Shaw, Marie; Gecz, Jozef; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Schwartz, Charles; Kooy, R Frank; Vandeweyer, Geert; Helsmoortel, Celine; Romano, Corrado; Alberti, Antonino; Vinci, Mirella; Avola, Emanuela; Giusto, Stefania; Courchesne, Eric; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Amaral, David G; Scheffer, Ingrid E; Delatycki, Martin B; Lockhart, Paul J; Hormozdiari, Fereydoun; Harich, Benjamin; Castells-Nobau, Anna; Xia, Kun; Peeters, Hilde; Nordenskjöld, Magnus; Schenck, Annette; Bernier, Raphael A; Eichler, Evan E	April 2017	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
27894273	Create Study	Prevalence of non-febrile seizures in children with idiopathic autism spectrum disorder and their unaffected siblings: a retrospective cohort study.	BMC neurology	Mccue LM, Flick LH, Twyman KA, Xian H, Conturo TE	November 2016	Not Determined
27667684	Create Study	Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.	Cell	Doan, Ryan N; Bae, Byoung-Il; Cubelos, Beatriz; Chang, Cindy; Hossain, Amer A; Al-Saad, Samira; Mukaddes, Nahit M; Oner, Ozgur; Al-Saffar, Muna; Balkhy, Soher; Gascon, Generoso G; Homozygosity Mapping Consortium for Autism; Nieto, Marta; Walsh, Christopher A	October 2016	Not Determined
27569545	Study (393)	Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.	American journal of human genetics	Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese; Andrieux, Joris; Le Caignec, Cedric; Martin-Coignard, Dominique; DyBuncio, Christina; Sanders, Stephan J; Lowe, Jennifer K; Cantor, Rita M; Geschwind, Daniel H	September 2016	Relevant
27566123	Create Study	Functional Connectivity of the Amygdala Is Disrupted in Preschool-Aged Children With Autism Spectrum Disorder.	Journal of the American Academy of Child and Adolescent Psychiatry	Shen, Mark D; Li, Deana D; Keown, Christopher L; Lee, Aaron; Johnson, Ryan T; Angkustsiri, Kathleen; Rogers, Sally J; Müller, Ralph-Axel; Amaral, David G; Nordahl, Christine Wu	September 2016	Not Determined
27273931	Create Study	Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder.	Autism research : official journal of the International Society for Autism Research	Libero LE, Nordahl CW, Li DD, Ferrer E, Rogers SJ, Amaral DG	November 2016	Not Determined
27219343	Create Study	Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia.	Translational psychiatry	Ellis, S E; Panitch, R; West, A B; Arking, D E	May 2016	Not Relevant
26829649	Create Study	Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.	Nature neuroscience	Tai, Derek J C; Ragavendran, Ashok; Manavalan, Poornima; Stortchevoi, Alexei; Seabra, Catarina M; Erdin, Serkan; Collins, Ryan L; Blumenthal, Ian; Chen, Xiaoli; Shen, Yiping; Sahin, Mustafa; Zhang, Chengsheng; Lee, Charles; Gusella, James F; Talkowski, Michael E	March 2016	Not Determined
26770665	Create Study	Increased expression of the PI3K catalytic subunit p110δ underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family.	Molecular autism	Poopal, Ashwini C; Schroeder, Lindsay M; Horn, Paul S; Bassell, Gary J; Gross, Christina	2016	Relevant
26627310	Create Study	JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.	Neuron	Berg, Jamee M; Lee, Changhoon; Chen, Leslie; Galvan, Laurie; Cepeda, Carlos; Chen, Jane Y; Peñagarikano, Olga; Stein, Jason L; Li, Alvin; Oguro-Ando, Asami; Miller, Jeremy A; Vashisht, Ajay A; Starks, Mary E; Kite, Elyse P; Tam, Eric; Gdalyahu, Amos; Al-Sharif, Noor B; Burkett, Zachary D; White, Stephanie A; Fears, Scott C; Levine, Michael S; Wohlschlegel, James A; Geschwind, Daniel H	December 16, 2015	Not Relevant
26590263	Create Study	Lynx: a knowledge base and an analytical workbench for integrative medicine.	Nucleic acids research	Sulakhe, Dinanath; Xie, Bingqing; Taylor, Andrew; D'Souza, Mark; Balasubramanian, Sandhya; Hashemifar, Somaye; White, Steven; Dave, Utpal J; Agam, Gady; Xu, Jinbo; Wang, Sheng; Gilliam, T Conrad; Maltsev, Natalia	January 4, 2016	Not Relevant
26508828	Create Study	Decreased Phosphorylated Protein Kinase B (Akt) in Individuals with Autism Associated with High Epidermal Growth Factor Receptor (EGFR) and Low Gamma-Aminobutyric Acid (GABA).	Biomarker insights	Russo, Anthony J	January 2015	Not Determined
26493496	Create Study	Immune Endophenotypes in Children With Autism Spectrum Disorder.	Biological psychiatry	Careaga, Milo; Rogers, Sally; Hansen, Robin L; Amaral, David G; Van de Water, Judy; Ashwood, Paul	March 2017	Not Determined
26391891	Create Study	The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.	Journal of child neurology	Kusenda, Mary; Vacic, Vladimir; Malhotra, Dheeraj; Rodgers, Linda; Pavon, Kevin; Meth, Jennifer; Kumar, Ravinesh A; Christian, Susan L; Peeters, Hilde; Cho, Shawn S; Addington, Anjene; Rapoport, Judith L; Sebat, Jonathan	December 2015	Not Determined
26279309	Create Study	Assessing hippocampal development and language in early childhood: Evidence from a new application of the Automatic Segmentation Adapter Tool.	Human brain mapping	Lee, Joshua K; Nordahl, Christine W; Amaral, David G; Lee, Aaron; Solomon, Marjorie; Ghetti, Simona	November 2015	Relevant
26185613	Create Study	Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.	Molecular autism	Griswold, Anthony J; Dueker, Nicole D; Van Booven, Derek; Rantus, Joseph A; Jaworski, James M; Slifer, Susan H; Schmidt, Michael A; Hulme, William; Konidari, Ioanna; Whitehead, Patrice L; Cuccaro, Michael L; Martin, Eden R; Haines, Jonathan L; Gilbert, John R; Hussman, John P; Pericak-Vance, Margaret A	January 1, 2015	Not Determined
26184828	Create Study	Increased Surface Area, but not Cortical Thickness, in a Subset of Young Boys With Autism Spectrum Disorder.	Autism research : official journal of the International Society for Autism Research	Ohta, Haruhisa; Nordahl, Christine Wu; Iosif, Ana-Maria; Lee, Aaron; Rogers, Sally; Amaral, David G	February 2016	Relevant
26100851	Create Study	Female Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities.	Journal of autism and developmental disorders	Howe YJ, O'Rourke JA, Yatchmink Y, Viscidi EW, Jones RN, Morrow EM	November 2015	Not Determined
26018425	Create Study	VoICE: A semi-automated pipeline for standardizing vocal analysis across models.	Scientific reports	Burkett, Zachary D; Day, Nancy F; Peñagarikano, Olga; Geschwind, Daniel H; White, Stephanie A	2015	Not Relevant
25973164	Create Study	Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins.	Molecular autism	Werling, Donna M; Geschwind, Daniel H	January 1, 2015	Not Determined
25973163	Create Study	Sex differences in the corpus callosum in preschool-aged children with autism spectrum disorder.	Molecular autism	Nordahl CW, Iosif AM, Young GS, Perry LM, Dougherty R, Lee A, Li D, Buonocore MH, Simon T, Rogers S, Wandell B, Amaral DG	2015	Not Determined
25951243	Create Study	The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study.	PloS one	Gdalyahu, Amos; Lazaro, Maria; Penagarikano, Olga; Golshani, Peyman; Trachtenberg, Joshua T; Geschwind, Daniel H; Gescwind, Daniel H	2015	Not Relevant
25807484	Study (367)	Loss of δ-catenin function in severe autism.	Nature	Turner, Tychele N; Sharma, Kamal; Oh, Edwin C; Liu, Yangfan P; Collins, Ryan L; Sosa, Maria X; Auer, Dallas R; Brand, Harrison; Sanders, Stephan J; Moreno-De-Luca, Daniel; Pihur, Vasyl; Plona, Teri; Pike, Kristen; Soppet, Daniel R; Smith, Michael W; Cheung, Sau Wai; Martin, Christa Lese; State, Matthew W; Talkowski, Michael E; Cook, Edwin; Huganir, Richard; Katsanis, Nicholas; Chakravarti, Aravinda	April 2, 2015	Relevant
25727539	Create Study	Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8.	The American journal of psychiatry	Lowe JK, Werling DM, Constantino JN, Cantor RM, Geschwind DH	March 1, 2015	Relevant
25674031	Create Study	Decreased plasma myeloperoxidase associated with probiotic therapy in autistic children.	Clinical medicine insights. Pediatrics	Russo, Anthony J	January 2015	Not Determined
25621974	Study (370)	No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.	PLoS genetics	Murdoch, John D; Gupta, Abha R; Sanders, Stephan J; Walker, Michael F; Keaney, John; Fernandez, Thomas V; Murtha, Michael T; Anyanwu, Samuel; Ober, Gordon T; Raubeson, Melanie J; DiLullo, Nicholas M; Villa, Natalie; Waqar, Zainabdul; Sullivan, Catherine; Gonzalez, Luis; Willsey, A Jeremy; Choe, So-Yeon; Neale, Benjamin M; Daly, Mark J; State, Matthew W	January 2015	Relevant
25609168	Create Study	Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism.	Science translational medicine	Peñagarikano, Olga; Lázaro, María T; Lu, Xiao-Hong; Gordon, Aaron; Dong, Hongmei; Lam, Hoa A; Peles, Elior; Maidment, Nigel T; Murphy, Niall P; Yang, X William; Golshani, Peyman; Geschwind, Daniel H	January 21, 2015	Not Relevant
25515860	Create Study	Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.	Human genetics	St Pourcain, Beate; Haworth, C M A; Davis, O S P; Wang, Kai; Timpson, Nicholas J; Evans, David M; Kemp, John P; Ronald, Angelica; Price, Tom; Meaburn, Emma; Ring, Susan M; Golding, Jean; Hakonarson, Hakon; Plomin, R; Davey Smith, George	June 2015	Not Determined
25494366	Create Study	Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.	Nature communications	Gupta S, Ellis SE, Ashar FN, Moes A, Bader JS, Zhan J, West AB, Arking DE	2014	Not Determined
25448322	Create Study	Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.	Autism research : official journal of the International Society for Autism Research	Eicher, John D; Gruen, Jeffrey R	April 2015	Not Determined
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
25342879	Create Study	Decreased Mitogen Inducible Gene 6 (MIG-6) Associated with Symptom Severity in Children with Autism.	Biomarker insights	Russo, Aj	January 2014	Not Determined
25311365	Create Study	Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR.	Molecular psychiatry	Oguro-Ando, A; Rosensweig, C; Herman, E; Nishimura, Y; Werling, D; Bill, B R; Berg, J M; Gao, F; Coppola, G; Abrahams, B S; Geschwind, D H	September 2015	Not Relevant
25249767	Create Study	Increased Epidermal Growth Factor Receptor (EGFR) Associated with Hepatocyte Growth Factor (HGF) and Symptom Severity in Children with Autism Spectrum Disorders (ASDs).	Journal of central nervous system disease	Russo, Anthony J	January 2014	Not Determined
25100326	Create Study	Violations of personal space by individuals with autism spectrum disorder.	PloS one	Kennedy, Daniel P; Adolphs, Ralph	2014	Not Determined
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 Determined
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
24948611	Create Study	Lynx web services for annotations and systems analysis of multi-gene disorders.	Nucleic acids research	Sulakhe D, Taylor A, Balasubramanian S, Feng B, Xie B, Börnigen D, Dave UJ, Foster IT, Gilliam TC, Maltsev N	July 2014	Not Determined
24927284	Create Study	The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.	Nature communications	Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J, AGP Consortium, Glessner J, Hakonarson H	2014	Not Determined
24906019	Create Study	Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.	American journal of human genetics	Blumenthal, Ian; Ragavendran, Ashok; Erdin, Serkan; Klei, Lambertus; Sugathan, Aarathi; Guide, Jolene R; Manavalan, Poornima; Zhou, Julian Q; Wheeler, Vanessa C; Levin, Joshua Z; Ernst, Carl; Roeder, Kathryn; Devlin, Bernie; Gusella, James F; Talkowski, Michael E	June 5, 2014	Not Determined
24866414	Create Study	Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism.	Journal of psychiatry & neuroscience : JPN	Anitha, Ayyappan; Thanseem, Ismail; Nakamura, Kazuhiko; Vasu, Mahesh M; Yamada, Kazuo; Ueki, Takatoshi; Iwayama, Yoshimi; Toyota, Tomoko; Tsuchiya, Kenji J; Iwata, Yasuhide; Suzuki, Katsuaki; Sugiyama, Toshiro; Tsujii, Masatsugu; Yoshikawa, Takeo; Mori, Norio	September 2014	Not Determined
24839890	Create Study	Ascertainment and gender in autism spectrum disorders.	Journal of the American Academy of Child and Adolescent Psychiatry	Howe YJ, Yatchmink Y, Viscidi EW, Morrow EM	June 2014	Not Determined
24752249	Create Study	Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.	PloS one	Breitenkamp AF, Matthes J, Nass RD, Sinzig J, Lehmkuhl G, Nürnberg P, Herzig S	2014	Not Determined
24679536	Create Study	Psychiatric disorders: diagnosis to therapy.	Cell	Krystal, John H; State, Matthew W	March 27, 2014	Not Determined
24651471	Create Study	DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism.	PLoS genetics	Davis, Jonathan M; Searles, Veronica B; Anderson, Nathan; Keeney, Jonathon; Dumas, Laura; Sikela, James M	March 2014	Not Determined
24618187	Create Study	Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.	International journal of epidemiology	Kim YS, State MW	April 2014	Not Determined
24600472	Create Study	A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism.	Frontiers in genetics	Carayol, Jérôme; Schellenberg, Gerard D; Dombroski, Beth; Amiet, Claire; Génin, Bérengère; Fontaine, Karine; Rousseau, Francis; Vazart, Céline; Cohen, David; Frazier, Thomas W; Hardan, Antonio Y; Dawson, Geraldine; Rio Frio, Thomas	January 2014	Not Determined
24574247	Create Study	Investigation of maternal genotype effects in autism by genome-wide association.	Autism research : official journal of the International Society for Autism Research	Yuan, Han; Dougherty, Joseph D	April 2014	Not Determined
24466509	Create Study	Potential Autoepitope within the Extracellular Region of Contactin-Associated Protein-like 2 in Mice.	British journal of medicine and medical research	Obregon, Demian F; Zhu, Yuyan; Bailey, Antoinette R; Portis, Samantha M; Hou, Huayan; Zeng, Jin; Stock, Saundra L; Murphy, Tanya K; Bengtson, Michael A; Tan, Jun	January 2014	Not Determined
24373520	Create Study	Genetically meaningful phenotypic subgroups in autism spectrum disorders.	Genes, brain, and behavior	Veatch OJ, Veenstra-Vanderweele J, Potter M, Pericak-Vance MA, Haines JL	March 2014	Not Determined
24290388	Create Study	Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.	International review of neurobiology	Bill BR, Lowe JK, Dybuncio CT, Fogel BL	2013	Not Determined
24270788	Create Study	Lynx: a database and knowledge extraction engine for integrative medicine.	Nucleic acids research	Sulakhe D, Balasubramanian S, Xie B, Feng B, Taylor A, Wang S, Berrocal E, Dave U, Xu J, Börnigen D, Gilliam TC, Maltsev N	January 2014	Not Determined
24207117	Create Study	The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.	American journal of human genetics	Steinberg, Julia; Webber, Caleb	November 7, 2013	Not Determined
24204716	Create Study	A genome-wide survey of transgenerational genetic effects in autism.	PloS one	Tsang, Kathryn M; Croen, Lisa A; Torres, Anthony R; Kharrazi, Martin; Delorenze, Gerald N; Windham, Gayle C; Yoshida, Cathleen K; Zerbo, Ousseny; Weiss, Lauren A	2013	Not Determined
24147096	Create Study	Defining the contribution of CNTNAP2 to autism susceptibility.	PloS one	Sampath, Srirangan; Bhat, Shambu; Gupta, Simone; O'Connor, Ashley; West, Andrew B; Arking, Dan E; Chakravarti, Aravinda	2013	Not Relevant
24132906	Create Study	Sex-specific association of a common variant of the XG gene with autism spectrum disorders.	American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics	Chang, Shun-Chiao; Pauls, David L; Lange, Christoph; Sasanfar, Roksana; Santangelo, Susan L	October 2013	Not Determined
24068789	Create Study	Lack of association between autism and anti-GM1 ganglioside antibody.	Neurology	Moeller S, Lau NM, Green PH, Hellberg D, Higgins JJ, Rajadhyaksha AM, Alaedini A	October 29, 2013	Not Determined
24058641	Create Study	Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study.	PloS one	Davis, Jonathan M; Keeney, Jonathon G; Sikela, James M; Hepburn, Susan	2013	Not Determined
23977206	Create Study	Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.	PloS one	Lin, Ping-I; Kuo, Po-Hsiu; Chen, Chia-Hsiang; Wu, Jer-Yuarn; Gau, Susan S-F; Wu, Yu-Yu; Liu, Shih-Kai	2013	Not Determined
23861807	Create Study	Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.	PloS one	Viscidi, Emma W; Triche, Elizabeth W; Pescosolido, Matthew F; McLean, Rebecca L; Joseph, Robert M; Spence, Sarah J; Morrow, Eric M	2013	Not Determined
23840741	Create Study	A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism.	PloS one	Talebizadeh, Zohreh; Arking, Dan E; Hu, Valerie W	January 2013	Not Determined
23838881	Create Study	A proof-of-concept study: exon-level expression profiling and alternative splicing in autism using lymphoblastoid cell lines.	Psychiatric genetics	Talebizadeh Z, Aldenderfer R, Wen Chen X	February 2014	Not Determined
23823064	Create Study	Markers of Celiac Disease and Gluten Sensitivity in Children with Autism.	PloS one	Lau NM, Green PH, Taylor AK, Hellberg D, Ajamian M, Tan CZ, Kosofsky BE, Higgins JJ, Rajadhyaksha AM, Alaedini A	January 2013	Not Determined
23766106	Create Study	Necrosis is increased in lymphoblastoid cell lines from children with autism compared with their non-autistic siblings under conditions of oxidative and nitrosative stress.	Mutagenesis	Main PA, Thomas P, Esterman A, Fenech MF	July 2013	Not Determined
23724825	Create Study	Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method.	BMC genomics	Baugher JD, Baugher BD, Shirley MD, Pevsner J	2013	Not Determined
23722009	Create Study	Mapping connectivity in the developing brain.	International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience	Dennis, Emily L; Thompson, Paul M	November 2013	Not Determined
23702184	Create Study	WITHDRAWN: Mapping Connectivity in the Developing Brain.	International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience	Dennis EL, Thompson PM	May 20, 2013	Not Determined
23645980	Create Study	Decreased Epidermal Growth Factor (EGF) Associated with HMGB1 and Increased Hyperactivity in Children with Autism.	Biomarker insights	Russo, Anthony J	January 2013	Not Determined
23632714	Create Study	Serologic markers of Lyme disease in children with autism.	JAMA	Ajamian M, Kosofsky BE, Wormser GP, Rajadhyaksha AM, Alaedini A	May 1, 2013	Not Determined
23575222	Create Study	An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.	Human molecular genetics	Cheng, Ye; Quinn, Jeffrey Francis; Weiss, Lauren Anne	July 15, 2013	Not Determined
23407934	Create Study	The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.	The Journal of neuroscience : the official journal of the Society for Neuroscience	Dougherty JD, Maloney SE, Wozniak DF, Rieger MA, Sonnenblick L, Coppola G, Mahieu NG, Zhang J, Cai J, Patti GJ, Abrahams BS, Geschwind DH, Heintz N	February 13, 2013	Not Determined
23395715	Create Study	Maternal autoantibodies are associated with abnormal brain enlargement in a subgroup of children with autism spectrum disorder.	Brain, behavior, and immunity	Nordahl, Christine Wu; Braunschweig, Daniel; Iosif, Ana-Maria; Lee, Aaron; Rogers, Sally; Ashwood, Paul; Amaral, David G; Van de Water, Judy	May 2013	Not Determined
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
23352155	Create Study	Rare inherited variation in autism: beginning to see the forest and a few trees.	Neuron	Stein JL, Parikshak NN, Geschwind DH	January 23, 2013	Not Relevant
23341896	Create Study	Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.	PloS one	Matsunami, Nori; Hadley, Dexter; Hensel, Charles H; Christensen, G Bryce; Kim, Cecilia; Frackelton, Edward; Thomas, Kelly; da Silva, Renata Pellegrino; Stevens, Jeff; Baird, Lisa; Otterud, Brith; Ho, Karen; Varvil, Tena; Leppert, Tami; Lambert, Christophe G; Leppert, Mark; Hakonarson, Hakon	2013	Not Determined
23226454	Create Study	The effects of birth order and birth interval on the phenotypic expression of autism spectrum disorder.	PloS one	Martin, Loren A; Horriat, Narges L	2012	Not Determined
23164818	Create Study	Common variant at 16p11.2 conferring risk of psychosis.	Molecular psychiatry	Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, et al.	January 2014	Not Determined
23130936	Create Study	Evaluating mitochondrial DNA variation in autism spectrum disorders.	Annals of human genetics	Hadjixenofontos A, Schmidt MA, Whitehead PL, Konidari I, Hedges DJ, Wright HH, Abramson RK, Menon R, Williams SM, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA, Martin ER, McCauley JL	January 2013	Not Determined
23063420	Create Study	Myeloid dendritic cells frequencies are increased in children with autism spectrum disorder and associated with amygdala volume and repetitive behaviors.	Brain, behavior, and immunity	Breece, Elizabeth; Paciotti, Brian; Nordahl, Christine Wu; Ozonoff, Sally; Van de Water, Judy A; Rogers, Sally J; Amaral, David; Ashwood, Paul	July 2013	Not Determined
23044707	Create Study	Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.	Molecular psychiatry	Moreno-De-Luca, D; Sanders, S J; Willsey, A J; Mulle, J G; Lowe, J K; Geschwind, D H; State, M W; Martin, C L; Ledbetter, D H	October 2013	Relevant
23031252	Create Study	Protocadherin α (PCDHA) as a novel susceptibility gene for autism.	Journal of psychiatry & neuroscience : JPN	Anitha A, Thanseem I, Nakamura K, Yamada K, Iwayama Y, Toyota T, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori N	May 2013	Not Determined
22984058	Create Study	Neuroscience. The emerging biology of autism spectrum disorders.	Science (New York, N.Y.)	State MW, Šestan N	September 14, 2012	Not Determined
22965006	Create Study	Predicting the diagnosis of autism spectrum disorder using gene pathway analysis.	Molecular psychiatry	Skafidas E, Testa R, Zantomio D, Chana G, Everall IP, Pantelis C	April 2014	Not Determined
22872163	Create Study	Inhibin B and anti-Müllerian hormone/Müllerian-inhibiting substance may contribute to the male bias in autism.	Translational psychiatry	Pankhurst MW, McLennan IS	2012	Not Determined
22849751	Create Study	Autism genetics: searching for specificity and convergence.	Genome biology	Berg, Jamee M; Geschwind, Daniel H	2012	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
22730494	Create Study	RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.	Human molecular genetics	Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH	October 1, 2012	Not Relevant
22726847	Create Study	Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.	American journal of human genetics	Luo, Rui; Sanders, Stephan J; Tian, Yuan; Voineagu, Irina; Huang, Ni; Chu, Su H; Klei, Lambertus; Cai, Chaochao; Ou, Jing; Lowe, Jennifer K; Hurles, Matthew E; Devlin, Bernie; State, Matthew W; Geschwind, Daniel H	July 13, 2012	Relevant
22689755	Create Study	DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism.	Bioinformatics (Oxford, England)	Aguiar D, Halldórsson BV, Morrow EM, Istrail S	June 15, 2012	Not Determined
22566635	Create Study	A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.	Proceedings of the National Academy of Sciences of the United States of America	Celestino-Soper, Patrícia B S; Violante, Sara; Crawford, Emily L; Luo, Rui; Lionel, Anath C; Delaby, Elsa; Cai, Guiqing; Sadikovic, Bekim; Lee, Kwanghyuk; Lo, Charlene; Gao, Kun; Person, Richard E; Moss, Timothy J; German, Jennifer R; Huang, Ni; Shinawi, Marwan; Treadwell-Deering, Diane; Szatmari, Peter; Roberts, Wendy; Fernandez, Bridget; Schroer, Richard J; Stevenson, Roger E; Buxbaum, Joseph D; Betancur, Catalina; Scherer, Stephen W; Sanders, Stephan J; Geschwind, Daniel H; Sutcliffe, James S; Hurles, Matthew E; Wanders, Ronald J A; Shaw, Chad A; Leal, Suzanne M; Cook Jr, Edwin H; Goin-Kochel, Robin P; Vaz, Frédéric M; Beaudet, Arthur L	May 22, 2012	Not Determined
22558107	Create Study	High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.	PloS one	Kelleher RJ, Geigenmüller U, Hovhannisyan H, Trautman E, Pinard R, Rathmell B, Carpenter R, Margulies D	2012	Not Determined
22549408	Create Study	CNVs leading to fusion transcripts in individuals with autism spectrum disorder.	European journal of human genetics : EJHG	Holt, Richard; Sykes, Nuala H; Conceição, Inês C; Cazier, Jean-Baptiste; Anney, Richard J L; Oliveira, Guiomar; Gallagher, Louise; Vicente, Astrid; Monaco, Anthony P; Pagnamenta, Alistair T	November 2012	Not Determined
22412387	Create Study	Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.	PLoS genetics	Ben-David E, Shifman S	January 2012	Not Determined
22377632	Create Study	Evaluating the evidence for transmission distortion in human pedigrees.	Genetics	Meyer WK, Arbeithuber B, Ober C, Ebner T, Tiemann-Boege I, Hudson RR, Przeworski M	May 2012	Not Determined
22365836	Create Study	What does CNTNAP2 reveal about autism spectrum disorder?	Trends in molecular medicine	Peñagarikano, Olga; Geschwind, Daniel H	March 2012	Not Relevant
22213789	Create Study	Increased rate of amygdala growth in children aged 2 to 4 years with autism spectrum disorders: a longitudinal study.	Archives of general psychiatry	Nordahl CW, Scholz R, Yang X, Buonocore MH, Simon T, Rogers S, Amaral DG	January 2012	Not Determined
22123952	Create Study	Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders.	Proceedings of the National Academy of Sciences of the United States of America	Nordahl CW, Lange N, Li DD, Barnett LA, Lee A, Buonocore MH, Simon TJ, Rogers S, Ozonoff S, Amaral DG	December 13, 2011	Not Determined
22105621	Create Study	QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders.	Molecular psychiatry	Lu AT, Yoon J, Geschwind DH, Cantor RM	February 2013	Not Determined
22039484	Create Study	Quantifying and modeling birth order effects in autism.	PloS one	Turner, Tychele; Pihur, Vasyl; Chakravarti, Aravinda	2011	Not Determined
22037497	Create Study	The conundrums of understanding genetic risks for autism spectrum disorders.	Nature neuroscience	State MW, Levitt P	December 2011	Not Determined
22009741	Create Study	The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice.	The Journal of biological chemistry	Abuhatzira, Liron; Shamir, Alon; Schones, Dustin E; Schäffer, Alejandro A; Bustin, Michael	December 2011	Not Determined
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
21962519	Create Study	Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.	Cell	Peñagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, Sonnenblick LI, Gruver R, Almajano J, Bragin A, Golshani P, Trachtenberg JT, Peles E, Geschwind DH	September 30, 2011	Not Relevant
21855394	Create Study	Genetics of autism spectrum disorders.	Trends in cognitive sciences	Geschwind, Daniel H	September 2011	Not Relevant
21839838	Create Study	Gene expression studies in autism: moving from the genome to the transcriptome and beyond.	Neurobiology of disease	Voineagu I	January 2012	Not Determined
21832174	Create Study	Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk.	The Journal of neuroscience : the official journal of the Society for Neuroscience	Mukamel Z, Konopka G, Wexler E, Osborn GE, Dong H, Bergman MY, Levitt P, Geschwind DH	August 10, 2011	Not Relevant
21826058	Create Study	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.	Molecular psychiatry	Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D	January 2012	Not Relevant
21757185	Create Study	Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects.	Biological psychiatry	Carayol J, Sacco R, Tores F, Rousseau F, Lewin P, Hager J, Persico AM	November 1, 2011	Not Determined
21703394	Create Study	Abnormal cell properties and down-regulated FAK-Src complex signaling in B lymphoblasts of autistic subjects.	The American journal of pathology	Wei H, Malik M, Sheikh AM, Merz G, Ted Brown W, Li X	July 2011	Not Determined
21663789	Create Study	The human brain in a dish: the promise of iPSC-derived neurons.	Cell	Dolmetsch R, Geschwind DH	June 10, 2011	Not Relevant
21647150	Create Study	Modeling the functional genomics of autism using human neurons.	Molecular psychiatry	Konopka G, Wexler E, Rosen E, Mukamel Z, Osborn GE, Chen L, Lu D, Gao F, Gao K, Lowe JK, Geschwind DH	February 2012	Not Relevant
21614001	Create Study	Transcriptomic analysis of autistic brain reveals convergent molecular pathology.	Nature	Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH	June 16, 2011	Not Relevant
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
21506289	Create Study	Autism spectrum disorders are associated with an elevated autoantibody response to tissue transglutaminase-2.	Autism research : official journal of the International Society for Autism Research	Rosenspire A, Yoo W, Menard S, Torres AR	August 2011	Not Determined
21491612	Create Study	No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set.	Autism research : official journal of the International Society for Autism Research	Allen-Brady K, Cai G, Cannon D, Robison R, McMahon WM, Coon H, Buxbaum JD	August 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	Relevant
21383172	Create Study	Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.	Proceedings of the National Academy of Sciences of the United States of America	Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, Schwartz CE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T	March 22, 2011	Not Determined
21364653	Create Study	Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1.	Cell death & disease	Fujita E, Dai H, Tanabe Y, Zhiling Y, Yamagata T, Miyakawa T, Tanokura M, Momoi MY, Momoi T	2010	Not Determined
21358714	Create Study	Rare structural variation of synapse and neurotransmission genes in autism.	Molecular psychiatry	Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS	April 2012	Not Determined
21358544	Create Study	Neurodevelopmental disorders: hope for a new beginning.	Current opinion in neurology	Geschwind, Daniel H	April 2011	Not Relevant
21308764	Create Study	Latent class model with familial dependence to address heterogeneity in complex diseases: adapting the approach to family-based association studies.	Genetic epidemiology	Bureau A, Croteau J, Tayeb A, Mérette C, Labbe A	April 2011	Not Determined
21302352	Create Study	Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders.	American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics	Chang, Shun-Chiao; Pauls, David L; Lange, Christoph; Sasanfar, Roksana; Santangelo, Susan L	March 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 Determined
21151189	Create Study	Allowing for sex differences increases power in a GWAS of multiplex Autism families.	Molecular psychiatry	Lu AT, Cantor RM	February 2012	Not Determined
21129367	Create Study	The promise and the pitfalls of autism research: an introductory note for new autism researchers.	Brain research	Amaral DG	March 22, 2011	Not Determined
21125004	Create Study	Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci.	Journal of neurodevelopmental disorders	Flax, Judy F; Hare, Abby; Azaro, Marco A; Vieland, Veronica J; Brzustowicz, Linda M	December 1, 2010	Not Determined
21055719	Create Study	Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.	American journal of human genetics	Moreno-De-Luca, Daniel; SGENE Consortium; Mulle, Jennifer G; Simons Simplex Collection Genetics Consortium; Kaminsky, Erin B; Sanders, Stephan J; GeneSTAR; Myers, Scott M; Adam, Margaret P; Pakula, Amy T; Eisenhauer, Nancy J; Uhas, Kim; Weik, LuAnn; Guy, Lisa; Care, Melanie E; Morel, Chantal F; Boni, Charlotte; Salbert, Bonnie Anne; Chandrareddy, Ashadeep; Demmer, Laurie A; Chow, Eva W C; Surti, Urvashi; Aradhya, Swaroop; Pickering, Diane L; Golden, Denae M; Sanger, Warren G; Aston, Emily; Brothman, Arthur R; Gliem, Troy J; Thorland, Erik C; Ackley, Todd; Iyer, Ram; Huang, Shuwen; Barber, John C; Crolla, John A; Warren, Stephen T; Martin, Christa L; Ledbetter, David H	November 12, 2010	Not Determined
21048216	Create Study	Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2.	Science translational medicine	Scott-Van Zeeland, Ashley A; Abrahams, Brett S; Alvarez-Retuerto, Ana I; Sonnenblick, Lisa I; Rudie, Jeffrey D; Ghahremani, Dara; Mumford, Jeanette A; Poldrack, Russell A; Dapretto, Mirella; Geschwind, Daniel H; Bookheimer, Susan Y	November 3, 2010	Not Relevant
20955925	Create Study	Changing the landscape of autism research: the autism genetic resource exchange.	Neuron	Lajonchere CM, AGRE Consortium	October 21, 2010	Not Determined
20841430	Create Study	De novo rates and selection of large copy number variation.	Genome research	Itsara, Andy; Wu, Hao; Smith, Joshua D; Nickerson, Deborah A; Romieu, Isabelle; London, Stephanie J; Eichler, Evan E	November 2010	Not Determined
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
20623818	Create Study	Evaluating diagnostic accuracy of genetic profiles in affected offspring families.	Statistics in medicine	Carayol J, Tores F, König IR, Hager J, Ziegler A	September 30, 2010	Not Determined
20552678	Create Study	Accuracy of phenotyping of autistic children based on Internet implemented parent report.	American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics	Lee, Hane; Marvin, Alison R; Watson, Tamara; Piggot, Judith; Law, J Kiely; Law, Paul A; Constantino, John N; Nelson, Stanley F	September 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
20437600	Create Study	A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families.	Autism research : official journal of the International Society for Autism Research	Allen-Brady K, Cannon D, Robison R, McMahon WM, Coon H	April 2010	Not Determined
20375269	Create Study	Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology	Nguyen A, Rauch TA, Pfeifer GP, Hu VW	August 2010	Not Determined
20029941	Create Study	A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.	American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics	van der Zwaag, Bert; Staal, Wouter G; Hochstenbach, Ron; Poot, Martin; Spierenburg, Henk A; de Jonge, Maretha V; Verbeek, Nienke E; van 't Slot, Ruben; van Es, Michael A; Staal, Frank J; Freitag, Christine M; Buizer-Voskamp, Jacobine E; Nelen, Marcel R; van den Berg, Leonard H; van Amstel, Hans K Ploos; van Engeland, Herman; Burbach, J Peter H	June 5, 2010	Not Determined
20012890	Create Study	A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.	Behavior genetics	Ronald, Angelica; Butcher, Lee M; Docherty, Sophia; Davis, Oliver S P; Schalkwyk, Leonard C; Craig, Ian W; Plomin, Robert	January 2010	Not Determined
19936905	Create Study	Brief report: Under-representation of African americans in autism genetic research: a rationale for inclusion of subjects representing diverse family structures.	Journal of autism and developmental disorders	Hilton, Claudia L; Fitzgerald, Robert T; Jackson, Kelley M; Maxim, Rolanda A; Bosworth, Christopher C; Shattuck, Paul T; Geschwind, Daniel H; Constantino, John N	May 2010	Not Relevant
19874940	Create Study	Autism: the ups and downs of neuroligin.	Biological psychiatry	Geschwind DH	November 15, 2009	Not Relevant
19855392	Create Study	Microduplications of 16p11.2 are associated with schizophrenia.	Nature genetics	McCarthy, Shane E; Makarov, Vladimir; Kirov, George; Addington, Anjene M; McClellan, Jon; Yoon, Seungtai; Perkins, Diana O; Dickel, Diane E; Kusenda, Mary; Krastoshevsky, Olga; Krause, Verena; Kumar, Ravinesh A; Grozeva, Detelina; Malhotra, Dheeraj; Walsh, Tom; Zackai, Elaine H; Kaplan, Paige; Ganesh, Jaya; Krantz, Ian D; Spinner, Nancy B; Roccanova, Patricia; Bhandari, Abhishek; Pavon, Kevin; Lakshmi, B; Leotta, Anthony; Kendall, Jude; Lee, Yoon-Ha; Vacic, Vladimir; Gary, Sydney; Iakoucheva, Lilia M; Crow, Timothy J; Christian, Susan L; Lieberman, Jeffrey A; Stroup, T Scott; Lehtimäki, Terho; Puura, Kaija; Haldeman-Englert, Chad; Pearl, Justin; Goodell, Meredith; Willour, Virginia L; Derosse, Pamela; Steele, Jo; Kassem, Layla; Wolff, Jessica; Chitkara, Nisha; McMahon, Francis J; Malhotra, Anil K; Potash, James B; Schulze, Thomas G; Nöthen, Markus M; Cichon, Sven; Rietschel, Marcella; Leibenluft, Ellen; Kustanovich, Vlad; Lajonchere, Clara M; Sutcliffe, James S; Skuse, David; Gill, Michael; Gallagher, Louise; Mendell, Nancy R; Wellcome Trust Case Control Consortium; Craddock, Nick; Owen, Michael J; O'Donovan, Michael C; Shaikh, Tamim H; Susser, Ezra; Delisi, Lynn E; Sullivan, Patrick F; Deutsch, Curtis K; Rapoport, Judith; Levy, Deborah L; King, Mary-Claire; Sebat, Jonathan	November 2009	Not Determined
19812673	Create Study	A genome-wide linkage and association scan reveals novel loci for autism.	Nature	Weiss, Lauren A; Arking, Dan E; Gene Discovery Project of Johns Hopkins & the Autism Consortium; Daly, Mark J; Chakravarti, Aravinda	October 8, 2009	Not Determined
19761602	Create Study	Locations and patterns of meiotic recombination in two-generation pedigrees.	BMC medical genetics	Ting JC, Roberson ED, Currier DG, Pevsner J	2009	Not Determined
19630577	Create Study	Advances in autism.	Annual review of medicine	Geschwind DH	2009	Not Relevant
19557195	Create Study	Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.	PLoS genetics	Bucan, Maja; Abrahams, Brett S; Wang, Kai; Glessner, Joseph T; Herman, Edward I; Sonnenblick, Lisa I; Alvarez Retuerto, Ana I; Imielinski, Marcin; Hadley, Dexter; Bradfield, Jonathan P; Kim, Cecilia; Gidaya, Nicole B; Lindquist, Ingrid; Hutman, Ted; Sigman, Marian; Kustanovich, Vlad; Lajonchere, Clara M; Singleton, Andrew; Kim, Junhyong; Wassink, Thomas H; McMahon, William M; Owley, Thomas; Sweeney, John A; Coon, Hilary; Nurnberger, John I; Li, Mingyao; Cantor, Rita M; Minshew, Nancy J; Sutcliffe, James S; Cook, Edwin H; Dawson, Geraldine; Buxbaum, Joseph D; Grant, Struan F A; Schellenberg, Gerard D; Geschwind, Daniel H; Hakonarson, Hakon	June 2009	Not Determined
19548256	Create Study	Association of MET with social and communication phenotypes in individuals with autism spectrum disorder.	American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics	Campbell, Daniel B; Warren, Dana; Sutcliffe, James S; Lee, Evon Batey; Levitt, Pat	March 2010	Not Determined
19546099	Create Study	A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.	Journal of medical genetics	Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB	February 2010	Not Determined
19477629	Create Study	Genetic advances in autism: heterogeneity and convergence on shared pathways.	Current opinion in genetics & development	Bill, Brent R; Geschwind, Daniel H	June 2009	Not Relevant
19455643	Create Study	Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders.	Autism research : official journal of the International Society for Autism Research	Hu, Valerie W; Steinberg, Mara E	April 2009	Not Determined
19455149	Create Study	High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.	Molecular psychiatry	Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF	October 2010	Not Determined
19418574	Create Study	Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism.	Autism research : official journal of the International Society for Autism Research	Hu, Valerie W; Sarachana, Tewarit; Kim, Kyung Soon; Nguyen, AnhThu; Kulkarni, Shreya; Steinberg, Mara E; Luu, Truong; Lai, Yinglei; Lee, Norman H	April 2009	Not Determined
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 Determined
19360675	Create Study	A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders.	Autism research : official journal of the International Society for Autism Research	Sakurai, Takeshi; Reichert, Jennifer; Hoffman, Ellen J; Cai, Guiqing; Jones, Hywel B; Faham, Malek; Buxbaum, Joseph D	August 2008	Not Determined
19360674	Create Study	Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism.	Autism research : official journal of the International Society for Autism Research	Talebizadeh Z, Butler MG, Theodoro MF	August 2008	Not Determined
19242545	Create Study	Association and mutation analyses of 16p11.2 autism candidate genes.	PloS one	Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL	2009	Not Determined
19135727	Create Study	Contact in the genetics of autism and schizophrenia.	Trends in neurosciences	Burbach JP, van der Zwaag B	February 2009	Not Determined
19125863	Create Study	Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.	Genes, brain, and behavior	Loat, C S; Curran, S; Lewis, C M; Duvall, J; Geschwind, D; Bolton, P; Craig, I W	October 2008	Not Determined
18987363	Create Study	A functional genetic link between distinct developmental language disorders.	The New England journal of medicine	Vernes, Sonja C; Newbury, Dianne F; Abrahams, Brett S; Winchester, Laura; Nicod, Jérôme; Groszer, Matthias; Alarcón, Maricela; Oliver, Peter L; Davies, Kay E; Geschwind, Daniel H; Monaco, Anthony P; Fisher, Simon E	November 27, 2008	Not Determined
18957284	Create Study	Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.	Biochemical and biophysical research communications	Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY	December 19, 2008	Not Determined
18832372	Create Study	Modeling genetic inheritance of copy number variations.	Nucleic acids research	Wang K, Chen Z, Tadesse MG, Glessner J, Grant SF, Hakonarson H, Bucan M, Li M	December 2008	Not Determined
18805830	Create Study	Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.	Journal of medical genetics	Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, et al.	April 2009	Not Determined
18782849	Create Study	Association of common variants in the Joubert syndrome gene (AHI1) with autism.	Human molecular genetics	Alvarez Retuerto, Ana I; Cantor, Rita M; Gleeson, Joseph G; Ustaszewska, Anna; Schackwitz, Wendy S; Pennacchio, Len A; Geschwind, Daniel H	December 15, 2008	Not Determined
18704077	Create Study	Autism: Family connections.	Nature	Geschwind, Daniel H	August 14, 2008	Not Relevant

helpcenter.collection.publications-tab

Collection - Publications

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

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

Frequently Asked Questions

How can I determine if a publication is relevant?

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

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

Glossary

Create Study

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

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

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

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

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

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

Contact NDA Help Desk

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

Associated Studies

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

Study NameFilter by Study Name	AbstractFilter by Abstract	Collection/Study SubjectsFilter by Collection/Study Subjects	Data UsageFilter by Data Usage	StateFilter by State
comparing EEG metrics during eyes closed versus eyes open rest in autism	Understanding the complex relationship between brain dynamics and mental disorders has proved difficult. Sample sizes have often been small, and brain dynamics have often been evaluated in only one state. Here, data obtained from the NIMH data archive were used to create a sample of 395 individuals with both eyes open and eyes closed resting state EEG data. All data were submitted to a standard pipeline to extract power spectra, peak alpha frequency, the slope of the 1/f curve, multi scale sample entropy, phase amplitude coupling, and intersite phase clustering. These data along with the survey data collected at the time of data collection form a valuable resource for interogating the relationship between brain state changes and autism diagnosis.	1/336	Secondary Analysis	Shared
Data-Driven Generation of Synthetic Behavioral Feature Vectors Modeling Children with Autism Spectrum Disorders	Behavioral data on children with Autism Spectrum Disorders (ASD) are available thanks to standardized diagnostic tools, such as the Autism Diagnostic Observation Schedule (ADOS). This data can be of great use to enhance the learning and reasoning of agents interacting with children with ASD. However, the amount of such available data is limited and may not prove useful by itself to inform the algorithms of complex agents. To address this data scarcity problem, we present a method for generating synthetic behavioral data in the form of feature vectors characterizing a wide range of children with ASD. Our method relies on a thorough analysis and partition of the feature space based on a real dataset containing the ADOS scores of 279 children. We first analyze the real dataset using dimensionality reduction techniques, then introduce data-driven descriptors that partition the feature space into regions naturally arising from the data. We end by presenting a descriptor-based sampling method to generate synthetic feature vectors that successfully preserves the correlation structure of the real dataset.	125/173	Secondary Analysis	Shared

* Data not on individual level

helpcenter.collection.associated-studies-tab

Collection - Associated Studies

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

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

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

Frequently Asked Questions

How do I associate a study to my collection?

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

Glossary

Associated Studies Tab

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

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