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1 Numbers reported are subjects by age
New Trial
New Project

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

Please select an experiment type below

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

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

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

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

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

[CMS] Attention
[CMS] Please confirm that you will not be enrolling any more subjects and that all raw data has been collected and submitted.
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Unable to change collection phase where targeted enrollment is less than 90%

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Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
MEG Studies of Auditory Processing in Minimally/Non-Verbal Children with ASD and Intellectual Disabilities
Mark Yudkoff and Timothy Roberts 
Imaging studies of ASD (including our own) have focused on an intellectually higher-functioning population (high-functioning autism, or HFA). One reason for this bias is that the majority of imaging studies entail magnetic resonance imaging (MRI), which presupposes a participant's ability to remain motionless during the study, thereby disqualifying from study the equally large ASD population with language delay and intellectual disability. We seek to investigate the neural basis of autism and associated language and cognitive impairment in an under-studied population of minimally verbal/non-verbal ASD children (MVNV-ASD). To this end, MVNV-ASD encoding, change detection, and lexical MEG measures will be compared with the same measures already available in age-matched HFA and typically developing (TD) children. Using the same tasks, MEG data will be obtained from a positive control group of children with intellectual delay (ID) but without ASD matched for age and non-verbal IQ in order to isolate neural abnormalities specific to MVNV-ASD and not consequent to impairment of general cognitive function. Thus, our primary goals are: (a) A search for pathogenic mechanisms common to HFA and MVNV-ASD, thereby enabling a deeper understanding of the pathogenesis of disability across the ASD spectrum; and (b) A search for mechanisms of language impairment that are ASD-specific rather than a consequence of more general effects of low cognitive ability.
NIMH Data Archive
07/14/2017
Funding Completed
Close Out
No
$6,345,615.00
57
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NIH - Extramural None

QA-notification.txt Other Quality Assurance Notification Qualified Researchers


U54HD086984-01 The Intellectual and Developmental Disabilities Research Center at CHOP/Penn 11/01/2015 05/31/2021 80 104 CHILDRENS HOSP OF PHILADELPHIA $6,345,615.00

helpcenter.collection.general-tab

NDA Help Center

Collection - General Tab

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

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

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

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

Blinded Clinical Trial Status:

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

Funding Source

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

Supporting Documentation

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

Grant Information

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

Clinical Trials

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

Frequently Asked Questions

  • How does the NIMH Data Archive (NDA) determine which Permission Group data are submitted into?
    During Collection creation, NDA staff determine the appropriate Permission Group based on the type of data to be submitted, the type of access that will be available to data access users, and the information provided by the Program Officer during grant award.
  • How do I know when a NDA Collection has been created?
    When a Collection is created by NDA staff, an email notification will automatically be sent to the PI(s) of the grant(s) associated with the Collection to notify them.
  • Is a single grant number ever associated with more than one Collection?
    The NDA system does not allow for a single grant to be associated with more than one Collection; therefore, a single grant will not be listed in the Grant Information section of a Collection for more than one Collection.
  • Why is there sometimes more than one grant included in a Collection?
    In general, each Collection is associated with only one grant; however, multiple grants may be associated if the grant has multiple competing segments for the same grant number or if multiple different grants are all working on the same project and it makes sense to hold the data in one Collection (e.g., Cooperative Agreements).

Glossary

  • Administrator Privilege
    A privilege provided to a user associated with an NDA Collection or NDA Study whereby that user can perform a full range of actions including providing privileges to other users.
  • Collection Owner
    Generally, the Collection Owner is the contact PI listed on a grant. Only one NDA user is listed as the Collection owner. Most automated emails are primarily sent to the Collection Owner.
  • Collection Phase
    The Collection Phase provides information on data submission as opposed to grant/project completion so while the Collection phase and grant/project phase may be closely related they are often different. Collection users with Administrative Privileges are encouraged to edit the Collection Phase. The Program Officer as listed in eRA (for NIH funded grants) may also edit this field. Changes must be saved by clicking the Save button at the bottom of the page. This field is sortable alphabetically in ascending or descending order. Collection Phase options include:
    • Pre-Enrollment: A grant/project has started, but has not yet enrolled subjects.
    • Enrolling: A grant/project has begun enrolling subjects. Data submission is likely ongoing at this point.
    • Data Analysis: A grant/project has completed enrolling subjects and has completed all data submissions.
    • Funding Completed: A grant/project has reached the project end date.
  • Collection Title
    An editable field with the title of the Collection, which is often the title of the grant associated with the Collection.
  • Grant
    Provides the grant number(s) for the grant(s) associated with the Collection. The field is a hyperlink so clicking on the Grant number will direct the user to the grant information in the NIH Research Portfolio Online Reporting Tools (RePORT) page.
  • Supporting Documentation
    Various documents and materials to enable efficient use of the data by investigators unfamiliar with the project and may include the research protocol, questionnaires, and study manuals.
  • NIH Research Initiative
    NDA Collections may be organized by scientific similarity into NIH Research Initiatives, to facilitate query tool user experience. NIH Research Initiatives map to one or multiple Funding Opportunity Announcements.
  • Permission Group
    Access to shared record-level data in NDA is provisioned at the level of a Permission Group. NDA Permission Groups consist of one or multiple NDA Collections that contain data with the same subject consents.
  • Planned Enrollment
    Number of human subject participants to be enrolled in an NIH-funded clinical research study. The data is provided in competing applications and annual progress reports.
  • Actual Enrollment
    Number of human subjects enrolled in an NIH-funded clinical research study. The data is provided in annual progress reports.
  • NDA Collection
    A virtual container and organization structure for data and associated documentation from one grant or one large project/consortium. It contains tools for tracking data submission and allows investigators to define a wide array of other elements that provide context for the data, including all general information regarding the data and source project, experimental parameters used to collect any event-based data contained in the Collection, methods, and other supporting documentation. They also allow investigators to link underlying data to an NDA Study, defining populations and subpopulations specific to research aims.
  • Data Use Limitations
    Data Use Limitations (DULs) describe the appropriate secondary use of a dataset and are based on the original informed consent of a research participant. NDA only accepts consent-based data use limitations defined by the NIH Office of Science Policy.
  • Total Subjects Shared
    The total number of unique subjects for whom data have been shared and are available for users with permission to access data.
IDNameCreated DateStatusType
No records found.
helpcenter.collection.experiments-tab

NDA Help Center

Collection - Experiments

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

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

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

Frequently Asked Questions

  • Can an Experiment be associated with more than one Collection?

    Yes -see the “Copy” button in the bottom left when viewing an experiment. There are two actions that can be performed via this button:

    1. Copy the experiment with intent for modifications.
    2. Associate the experiment to the collection. No modifications can be made to the experiment.

Glossary

  • Experiment Status
    An Experiment must be Approved before data using the associated Experiment_ID may be uploaded.
  • Experiment ID
    The ID number automatically generated by NDA which must be included in the appropriate file when uploading data to link the Experiment Definition to the subject record.
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 1 Clinical Assessments 39
Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) - Module 3 Clinical Assessments 8
Leiter-3 Clinical Assessments 55
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 57
Research Subject Clinical Assessments 57
helpcenter.collection.shared-data-tab

NDA Help Center

Collection - Shared Data

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

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

Frequently Asked Questions

  • How will I know if another researcher uses data that I shared through the NIMH Data Archive (NDA)?
    To see what data your project have submitted are being used by a study, simply go the Associated Studies tab of your collection. Alternatively, you may review an NDA Study Attribution Report available on the General tab.
  • Can I get a supplement to share data from a completed research project?
    Often it becomes more difficult to organize and format data electronically after the project has been completed and the information needed to create a GUID may not be available; however, you may still contact a program staff member at the appropriate funding institution for more information.
  • Can I get a supplement to share data from a research project that is still ongoing?
    Unlike completed projects where researchers may not have the information needed to create a GUID and/or where the effort needed to organize and format data becomes prohibitive, ongoing projects have more of an opportunity to overcome these challenges. Please contact a program staff member at the appropriate funding institution for more information.

Glossary

  • Data Structure
    A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
  • Data Type
    A grouping of data by similar characteristics such as Clinical Assessments, Omics, or Neurosignal data.
  • Shared
    The term 'Shared' generally means available to others; however, there are some slightly different meanings based on what is Shared. A Shared NDA Study is viewable and searchable publicly regardless of the user's role or whether the user has an NDA account. A Shared NDA Study does not necessarily mean that data used in the NDA Study have been shared as this is independently determined. Data are shared according the schedule defined in a Collection's Data Expected Tab and/or in accordance with data sharing expectations in the NDA Data Sharing Terms and Conditions. Additionally, Supporting Documentation uploaded to a Collection may be shared independent of whether data are shared.

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

Publications

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

PubMed IDStudyTitleJournalAuthorsDateStatus
39025074Create StudyHistone variant H2BE enhances chromatin accessibility in neurons to promote synaptic gene expression and long-term memory.Molecular cellFeierman, Emily R; Louzon, Sean; Prescott, Nicholas A; Biaco, Tracy; Gao, Qingzeng; Qiu, Qi; Choi, Kyuhyun; Palozola, Katherine C; Voss, Anna J; Mehta, Shreya D; Quaye, Camille N; Lynch, Katherine T; Fuccillo, Marc V; Wu, Hao; David, Yael; Korb, EricaAugust 8, 2024Not Determined
38837018Create StudyWhite matter connectivity and social functioning in survivors of pediatric brain tumor.Journal of neuro-oncologyHocking, Matthew C; Schultz, Robert T; Yerys, Benjamin E; Minturn, Jane E; Fantozzi, Peter; Herrington, John DSeptember 1, 2024Not Determined
38767061Create StudyChild neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID-19 pandemic.Developmental medicine and child neurologyKaufman, Michael C; Xian, Julie; Galer, Peter D; Parthasarathy, Shridhar; Gonzalez, Alexander K; McKee, Jillian L; Prelack, Marisa S; Fitzgerald, Mark P; Helbig, Ingo; CHOP Neuroscience Center ‐ Telemedicine Research GroupMarch 1, 2023Not Determined
38625743Create StudyAltered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency.JCI insightZhou, Yijing; Sanchez, Vanessa B; Xu, Peining; Roule, Thomas; Flores-Mendez, Marco; Ciesielski, Brianna; Yoo, Donna; Teshome, Hiab; Jimenez, Teresa; Liu, Shibo; Henne, Mike; O'Brien, Tim; He, Ye; Mesaros, Clementina; Akizu, NaiaraApril 16, 2024Not Determined
38470289Create StudySocial impairment in survivors of pediatric brain tumors via reduced social attention and emotion-specific facial expression recognition.Pediatric blood & cancerFantozzi, Peter M; Anil, Ashley; McHugh, Sean; Srsich, Alannah R; Zope, Manali; Parish-Morris, Julia; Schultz, Robert T; Herrington, John; Hocking, Matthew CJune 1, 2024Not Determined
38352334Create StudyHistone variant H2BE enhances chromatin accessibility in neurons to promote synaptic gene expression and long-term memory.bioRxiv : the preprint server for biologyFeierman, Emily R; Louzon, Sean; Prescott, Nicholas A; Biaco, Tracy; Gao, Qingzeng; Qiu, Qi; Choi, Kyuhyun; Palozola, Katherine C; Voss, Anna J; Mehta, Shreya D; Quaye, Camille N; Lynch, Katherine T; Fuccillo, Marc V; Wu, Hao; David, Yael; Korb, EricaJune 5, 2024Not Determined
38279907Create StudyEarly life seizures and epileptic spasms in STXBP1-related disorders.EpilepsiaThalwitzer, Kim M; Xian, Julie; de Campo, Danielle; Parthasarathy, Shridhar; Magielski, Jan; Sullivan, Katie R; Goss, James; Rigby, Charlene Son; Boland, Michael; Prosser, Ben; Ruggiero, Sarah M; Syrbe, Steffen; Helbig, IngoMarch 1, 2024Not Determined
38212313Create StudyKagami Ogata syndrome: a small deletion refines critical region for imprinting.NPJ genomic medicineKilich, Gonench; Hassey, Kelly; Behrens, Edward M; Falk, Marni; Vanderver, Adeline; Rader, Daniel J; Cahill, Patrick J; Raper, Anna; Zhang, Zhe; Westerfer, Dawn; Jadhav, Tanaya; Conlin, Laura; Izumi, Kosuke; Rajagopalan, Ramakrishnan; Sullivan, Kathleen E; UDN ConsortiumJanuary 11, 2024Not Determined
38015929Create StudyDelineating clinical and developmental outcomes in STXBP1-related disorders.Brain : a journal of neurologyXian, Julie; Thalwitzer, Kim Marie; McKee, Jillian; Sullivan, Katie Rose; Brimble, Elise; Fitch, Eryn; Toib, Jonathan; Kaufman, Michael C; deCampo, Danielle; Cunningham, Kristin; Pierce, Samuel R; Goss, James; Rigby, Charlene Son; Syrbe, Steffen; Boland, Michael; Prosser, Benjamin; Fitter, Nasha; Ruggiero, Sarah M; Helbig, IngoDecember 1, 2023Not Determined
37947183Create StudyBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.Genetics in medicine : official journal of the American College of Medical GeneticsJeffries, Lauren; Mis, Emily K; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B; Banka, Siddharth; Chao, Katherine R; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M; Stals, Karen; Towner, Shelley; Wilson, William; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha, Mustafa K; Bönnemann, Carsten G; Lucas, Carrie L; Lakhani, Saquib AFebruary 1, 2024Not Determined
37723282Create StudyLoss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.Communications biologyCamp, Chad R; Vlachos, Anna; Klöckner, Chiara; Krey, Ilona; Banke, Tue G; Shariatzadeh, Nima; Ruggiero, Sarah M; Galer, Peter; Park, Kristen L; Caccavano, Adam; Kimmel, Sarah; Yuan, Xiaoqing; Yuan, Hongjie; Helbig, Ingo; Benke, Tim A; Lemke, Johannes R; Pelkey, Kenneth A; McBain, Chris J; Traynelis, Stephen FSeptember 19, 2023Not Determined
37525469Create StudyCooperative and competitive regulation of the astrocytic transcriptome by neurons and endothelial cells: Impact on astrocyte maturation.Journal of neurochemistryMartinez-Lozada, Zila; Farmer, W Todd; Schober, Alexandra L; Krizman, Elizabeth; Robinson, Michael B; Murai, Keith KOctober 1, 2023Not Determined
37474567Create StudyGenome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communicationsMontanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Epi25 Collaborative; Helbig, Ingo; Leu, Costin; Lal, DennisJuly 20, 2023Not Determined
37425705Create StudyEarly life seizures and epileptic spasms in STXBP1-related disorders.medRxiv : the preprint server for health sciencesThalwitzer, Kim M; Xian, Julie; deCampo, Danielle; Parthasarathy, Shridhar; Magielski, Jan; Sullivan, Katie Rose; Goss, James; Rigby, Charlene Son; Boland, Michael; Prosser, Ben; Ruggiero, Sarah M; Syrbe, Steffen; Helbig, IngoJune 28, 2023Not Determined
37407264Create StudyNatural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.NeurologyThalwitzer, Kim M; Driedger, Jan H; Xian, Julie; Saffari, Afshin; Zacher, Pia; Bölsterli, Bigna K; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N; Kellinghaus, Christoph; Althaus, Jürgen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M H; Debus, Otfried M; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; Schlump, Jan-Ulrich; Laufs, Mirjam; Mammadova, Dilbar; Wurst, Carsten; Prager, Christine; Löhr-Nilles, Christa; Martin, Peter; Garbade, Sven F; Platzer, Konrad; Benkel-Herrenbrueck, Ira; Egler, Kerstin; Fazeli, Walid; Lemke, Johannes R; Runkel, Eva; Klein, Barbara; Linden, Tobias; Schröter, Julian; Steffeck, Heike; Thies, Bastian; von Deimling, Florian; Illsinger, Sabine; Borggraefe, Ingo; Classen, Georg; Wieczorek, Dagmar; Ramantani, Georgia; Koelker, Stefan; Hoffmann, Georg F; Ries, Markus; Helbig, Ingo; Syrbe, SteffenAugust 29, 2023Not Determined
37353954Create StudyHeterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.American journal of medical genetics. Part ANair, Divya; Diaz-Rosado, Abdias; Varella-Branco, Elisa; Ramos, Igor; Black, Aaron; Angireddy, Rajesh; Park, Joseph; Murali, Svathi; Yoon, Andrew; Ciesielski, Brianna; O'Brien, W Timothy; Passos-Bueno, Maria Rita; Bhoj, ElizabethOctober 1, 2023Not Determined
37215006Create StudyDelineating clinical and developmental outcomes in STXBP1-related disorders.medRxiv : the preprint server for health sciencesXian, Julie; Thalwitzer, Kim Marie; McKee, Jillian; Sullivan, Katie Rose; Brimble, Elise; Fitch, Eryn; Toib, Jonathan; Kaufman, Michael C; deCampo, Danielle; Cunningham, Kristin; Pierce, Samuel R; Goss, James; Rigby, Charlene Son; Syrbe, Steffen; Boland, Michael; Prosser, Ben; Fitter, Nasha; Ruggiero, Sarah M; Helbig, IngoMay 11, 2023Not Determined
37183800Create StudyA new neurodevelopmental disorder linked to heterozygous variants in UNC79.Genetics in medicine : official journal of the American College of Medical GeneticsBayat, Allan; Liu, Zhenjiang; Luo, Sheng; Fenger, Christina D; Højte, Anne F; Isidor, Bertrand; Cogne, Benjamin; Larson, Austin; Zanus, Caterina; Faletra, Flavio; Keren, Boris; Musante, Luciana; Gourfinkel-An, Isabelle; Perrine, Charles; Demily, Caroline; Lesca, Gaeton; Liao, Weiping; Ren, DejianSeptember 1, 2023Not Determined
37178820Create StudyMaturation of auditory cortex neural responses during infancy and toddlerhood.NeuroImageChen, Yuhan; Green, Heather L; Putt, Mary E; Allison, Olivia; Kuschner, Emily S; Kim, Mina; Blaskey, Lisa; Mol, Kylie; McNamee, Marybeth; Bloy, Luke; Liu, Song; Huang, Hao; Roberts, Timothy P L; Edgar, J ChristopherJuly 15, 2023Not Determined
37168581Create StudyAre early social communication skills a harbinger for language development in infants later diagnosed autistic?-A longitudinal study using a standardized social communication assessment.Frontiers in communicationRavi, Shruthi; Bradshaw, Allison; Abdi, Hervé; Meera, Shoba Sreenath; Parish-Morris, Julia; Yankowitz, Lisa; Paterson, Sarah; Dager, Stephen R; Burrows, Catherine A; Chappell, Chad; St John, Tanya; Estes, Annette M; Piven, Joseph; Swanson, Meghan R; IBIS NetworkJanuary 1, 2022Not Determined
37140923Create StudyAssociation of Sex With Neurobehavioral Markers of Executive Function in 2-Year-Olds at High and Low Likelihood of Autism.JAMA network openSt John, Tanya; Estes, Annette M; Hazlett, Heather C; Marrus, Natasha; Burrows, Catherine A; Donovan, Kevin; Torres Gomez, Santiago; Grzadzinski, Rebecca L; Parish-Morris, Julia; Smith, Rachel; Styner, Martin; Garic, Dea; Pandey, Juhi; Lee, Chimei M; Schultz, Robert T; Botteron, Kelly N; Zwaigenbaum, Lonnie; Piven, Joseph; Dager, Stephen R; IBIS NetworkMay 1, 2023Not Determined
37120522Create StudyRare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.Journal of neurodevelopmental disordersGlessner, Joseph T; Khan, Munir E; Chang, Xiao; Liu, Yichuan; Otieno, F George; Lemma, Maria; Slaby, Isabella; Hain, Heather; Mentch, Frank; Li, Jin; Kao, Charlly; Sleiman, Patrick M A; March, Michael E; Connolly, John; Hakonarson, HakonApril 29, 2023Not Determined
37100502Create StudyEnriching representation learning using 53 million patient notes through human phenotype ontology embedding.Artificial intelligence in medicineDaniali, Maryam; Galer, Peter D; Lewis-Smith, David; Parthasarathy, Shridhar; Kim, Edward; Salvucci, Dario D; Miller, Jeffrey M; Haag, Scott; Helbig, IngoMay 1, 2023Not Determined
36968615Create StudyLearning Strategies for Contrast-agnostic Segmentation via SynthSeg for Infant MRI data.Proceedings of machine learning researchShang, Ziyao; Turja, Md Asadullah; Feczko, Eric; Houghton, Audrey; Rueter, Amanda; Moore, Lucille A; Snider, Kathy; Hendrickson, Timothy; Reiners, Paul; Stoyell, Sally; Kardan, Omid; Rosenberg, Monica; Elison, Jed T; Fair, Damien A; Styner, Martin AJuly 1, 2022Not Determined
36929476Create StudyA comparison of resting-state eyes-closed and dark-room alpha-band activity in children.PsychophysiologyEdgar, J Christopher; Franzen, Rose E; McNamee, Marybeth; Green, Heather L; Shen, Guannan; DiPiero, Marissa; Liu, Song; Airey, Megan; Goldin, Sophia; Blaskey, Lisa; Kuschner, Emily S; Kim, Mina; Konka, Kimberly; Roberts, Timothy P L; Chen, YuhanJune 1, 2023Not Determined
36762645Create StudyThe current landscape of epilepsy genetics: where are we, and where are we going?Current opinion in neurologyRuggiero, Sarah M; Xian, Julie; Helbig, IngoApril 1, 2023Not Determined
36625631Create StudyA disease concept model for STXBP1-related disorders.Epilepsia openSullivan, Katie R; Ruggiero, Sarah M; Xian, Julie; Thalwitzer, Kim M; Ali, Rahma; Stewart, Sydni; Cosico, Mahgenn; Steinberg, Jackie; Goss, James; Pfalzer, Anna C; Horning, Kyle J; Weitzel, Nicole; Corey, Sydney; Conway, Laura; Rigby, Charlene Son; Bichell, Terry Jo; Helbig, IngoJune 1, 2023Not Determined
36413998Create StudyA recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.American journal of human geneticsParthasarathy, Shridhar; Ruggiero, Sarah McKeown; Gelot, Antoinette; Soardi, Fernanda C; Ribeiro, Bethânia F R; Pires, Douglas E V; Ascher, David B; Schmitt, Alain; Rambaud, Caroline; Represa, Alfonso; Xie, Hongbo M; Lusk, Laina; Wilmarth, Olivia; McDonnell, Pamela Pojomovsky; Juarez, Olivia A; Grace, Alexandra N; Buratti, Julien; Mignot, Cyril; Gras, Domitille; Nava, Caroline; Pierce, Samuel R; Keren, Boris; Kennedy, Benjamin C; Pena, Sergio D J; Helbig, Ingo; Cuddapah, Vishnu AnandDecember 1, 2022Not Determined
36222317Create StudyQuantifying latent social motivation and its associations with joint attention and language in infants at high and low likelihood for autism spectrum disorder.Developmental scienceStallworthy, Isabella C; Berry, Daniel; Davis, Savannah; Wolff, Jason J; Burrows, Catherine A; Swanson, Meghan R; Grzadzinski, Rebecca L; Botteron, Kelly; Dager, Stephen R; Estes, Annette M; Schultz, Robert T; Piven, Joseph; Elison, Jed T; Pruett Jr, John R; Marrus, Natasha; IBIS NetworkMay 1, 2023Not Determined
36189644Create StudySocial motivation in infancy is associated with familial recurrence of ASD.Development and psychopathologyMarrus, Natasha; Botteron, Kelly N; Hawks, Zoë; Pruett Jr, John R; Elison, Jed T; Jackson, Joshua J; Markson, Lori; Eggebrecht, Adam T; Burrows, Catherine A; Zwaigenbaum, Lonnie; Dager, Stephen R; Estes, Annette M; Hazlett, Heather Cody; Schultz, Robert T; Piven, Joseph; Constantino, John NFebruary 1, 2024Not Determined
36029553Create StudyModulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.EBioMedicineSeiffert, Simone; Pendziwiat, Manuela; Bierhals, Tatjana; Goel, Himanshu; Schwarz, Niklas; van der Ven, Amelie; Boßelmann, Christian Malte; Lemke, Johannes; Syrbe, Steffen; Willemsen, Marjolein Hanna; Hedrich, Ulrike Barbara Stefanie; Helbig, Ingo; Weber, YvonneSeptember 1, 2022Not Determined
35965107Create StudyA Data-Driven Approach in an Unbiased Sample Reveals Equivalent Sex Ratio of Autism Spectrum Disorder-Associated Impairment in Early Childhood.Biological psychiatryBurrows, Catherine A; Grzadzinski, Rebecca L; Donovan, Kevin; Stallworthy, Isabella C; Rutsohn, Joshua; St John, Tanya; Marrus, Natasha; Parish-Morris, Julia; MacIntyre, Leigh; Hampton, Jacqueline; Pandey, Juhi; Shen, Mark D; Botteron, Kelly N; Estes, Annette M; Dager, Stephen R; Hazlett, Heather C; Pruett Jr, John R; Schultz, Robert T; Zwaigenbaum, Lonnie; Truong, Kinh N; Piven, Joseph; Elison, Jed T; IBIS NetworkOctober 15, 2022Not Determined
35960416Create StudyDifferential Maturation of Auditory Cortex Activity in Young Children with Autism and Typical Development.Journal of autism and developmental disordersGreen, Heather L; Shen, Guannan; Franzen, Rose E; Mcnamee, Marybeth; Berman, Jeffrey I; Mowad, Theresa G; Ku, Matthew; Bloy, Luke; Liu, Song; Chen, Yu-Han; Airey, Megan; McBride, Emma; Goldin, Sophia; Dipiero, Marissa A; Blaskey, Lisa; Kuschner, Emily S; Kim, Mina; Konka, Kimberly; Roberts, Timothy P L; Edgar, J ChristopherOctober 1, 2023Not Determined
35921439Create StudyTargeting acetyl-CoA metabolism attenuates the formation of fear memories through reduced activity-dependent histone acetylation.Proceedings of the National Academy of Sciences of the United States of AmericaAlexander, Desi C; Corman, Tanya; Mendoza, Mariel; Glass, Andrew; Belity, Tal; Wu, Ranran; Campbell, Rianne R; Han, Joseph; Keiser, Ashley A; Winkler, Jeffrey; Wood, Marcelo A; Kim, Thomas; Garcia, Benjamin A; Cohen, Hagit; Mews, Philipp; Egervari, Gabor; Berger, Shelley LAugust 9, 2022Not Determined
35878504Create StudyPsychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).Molecular genetics and metabolismGavazzi, Francesco; Pierce, Samuel R; Vithayathil, Joseph; Cunningham, Kristin; Anderson, Kim; McCann, Jacob; Moll, Ashley; Muirhead, Kayla; Sherbini, Omar; Prange, Erin; Dubbs, Holly; Tochen, Laura; Fraser, Jamie; Helbig, Ingo; Lewin, Naomi; Thakur, Nivedita; Adang, Laura AJanuary 1, 2022Not Determined
35872154Create StudyA MEG compatible, interactive IR game paradigm for the study of visuomotor reach-to-target movements in young children and clinical populations: The Target-Touch Motor Task.Journal of neuroscience methodsGaetz, William; Graci, Valentina; Falciani, Clayton; Sanders, Ozell; Prosser, Laura AOctober 1, 2022Not Determined
35851549Create StudyNatural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.NeurologyStamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; Krijtova, Hana; Leffner, Melanie; Lerche, Holger; Lesca, Gaetan; Lewis-Smith, David; Marini, Carla; Marjanovic, Dragan; Mazzola, Laure; McKeown Ruggiero, Sarah; Mochel, Fanny; Ramond, Francis; Reif, Philipp S; Richard-Mornas, Aurélie; Rosenow, Felix; Schropp, Christian; Thomas, Rhys H; Vignoli, Aglaia; Weber, Yvonne; Palmer, Elizabeth; Helbig, Ingo; Scheffer, Ingrid E; Striano, Pasquale; Møller, Rikke S; Gardella, Elena; Weckhuysen, SarahJuly 19, 2022Not Determined
35817569Create StudyKetamine for Management of Neonatal and Pediatric Refractory Status Epilepticus.NeurologyJacobwitz, Marin; Mulvihill, Caitlyn; Kaufman, Michael C; Gonzalez, Alexander K; Resendiz, Karla; MacDonald, Jennifer M; Francoeur, Conall; Helbig, Ingo; Topjian, Alexis A; Abend, Nicholas SSeptember 20, 2022Not Determined
35718287Create StudyTwo mechanisms facilitate regional independence between brain regions based on an examination of alpha-band activity in healthy control adult males.International journal of psychophysiology : official journal of the International Organization of PsychophysiologyEdgar, J Christopher; Berman, Jeffrey I; Liu, Song; Chen, Yu-Han; Huang, Mingxiong; Brodkin, Edward S; Roberts, Timothy P L; Bloy, LukeAugust 1, 2022Not Determined
35716052Create StudyPrecision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.EpilepsiaKnowles, Juliet K; Helbig, Ingo; Metcalf, Cameron S; Lubbers, Laura S; Isom, Lori L; Demarest, Scott; Goldberg, Ethan M; George Jr, Alfred L; Lerche, Holger; Weckhuysen, Sarah; Whittemore, Vicky; Berkovic, Samuel F; Lowenstein, Daniel HOctober 1, 2022Not Determined
35636315Create StudyCommon risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.EBioMedicineOliver, Karen L; Ellis, Colin A; Scheffer, Ingrid E; Ganesan, Shiva; Leu, Costin; Sadleir, Lynette G; Heinzen, Erin L; Mefford, Heather C; Bass, Andrew J; Curtis, Sarah W; Harris, Rebekah V; Epi4K Consortium; Whiteman, David C; Helbig, Ingo; Ottman, Ruth; Epstein, Michael P; Bahlo, Melanie; Berkovic, Samuel FJuly 1, 2022Not Determined
35592948Create StudyWhole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.EpilepsiaHammer, Michael F; Pan, Yanling; Cumbay, Medhane; Pendziwiat, Manuela; Afawi, Zaid; Goldberg-Stern, Hadassah; Johnstone, Laurel; Helbig, Ingo; Cummins, Theodore RAugust 1, 2022Not Determined
35514061Create StudyVisits of concern in child neurology telemedicine.Developmental medicine and child neurologyPrelack, Marisa; Fridinger, Sara; Gonzalez, Alexander K; Kaufman, Michael C; Xian, Julie; Galer, Peter D; Craig, Sansanee; Abend, Nicholas S; Helbig, Ingo; CHOP Neuroscience Center - VOC Research Group*November 1, 2022Not Determined
35460582Create StudyComputational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.Human mutationLewis-Smith, David; Parthasarathy, Shridhar; Xian, Julie; Kaufman, Michael C; Ganesan, Shiva; Galer, Peter D; Thomas, Rhys H; Helbig, IngoNovember 1, 2022Not Determined
35344748Create StudyCharacterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.Epilepsy researchKane, Owen; McCoy, Almedia; Jada, Reem; Borisov, Veronika; Zag, Liron; Zag, Amir; Schragenheim-Rozales, Kinneret; Shalgi, Reut; Levy, Nina S; Levy, Andrew P; Marsh, Eric DMay 1, 2022Not Determined
35331012Create StudySubcortical Brain Development in Autism and Fragile X Syndrome: Evidence for Dynamic, Age- and Disorder-Specific Trajectories in Infancy.The American journal of psychiatryShen, Mark D; Swanson, Meghan R; Wolff, Jason J; Elison, Jed T; Girault, Jessica B; Kim, Sun Hyung; Smith, Rachel G; Graves, Michael M; Weisenfeld, Leigh Anne H; Flake, Lisa; MacIntyre, Leigh; Gross, Julia L; Burrows, Catherine A; Fonov, Vladimir S; Collins, D Louis; Evans, Alan C; Gerig, Guido; McKinstry, Robert C; Pandey, Juhi; St John, Tanya; Zwaigenbaum, Lonnie; Estes, Annette M; Dager, Stephen R; Schultz, Robert T; Styner, Martin A; Botteron, Kelly N; Hazlett, Heather C; Piven, Joseph; IBIS NetworkAugust 1, 2022Not Determined
35314505Create StudySpectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.NeurologySchwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B S; Augustijn, Paul B; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J; Bruria, Ben Zeev; Doyle, Michael G; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, YvonneMay 17, 2022Not Determined
35308116Create StudyActivation of Glutamate Transport Increases Arteriole Diameter in v ivo: Implications for Neurovascular Coupling.Frontiers in cellular neuroscienceJackson, Joshua G; Krizman, Elizabeth; Takano, Hajime; Lee, Meredith; Choi, Grace H; Putt, Mary E; Robinson, Michael BJanuary 1, 2022Not Determined
35279653Create StudyDeficits in Seizure Threshold and Other Behaviors in Adult Mice without Gross Neuroanatomic Injury after Late Gestation Transient Prenatal Hypoxia.Developmental neuroscienceCristancho, Ana G; Gadra, Elyse C; Samba, Ima M; Zhao, Chenying; Ouyang, Minhui; Magnitsky, Sergey; Huang, Hao; Viaene, Angela N; Anderson, Stewart A; Marsh, Eric DJanuary 1, 2022Not Determined
35237118Create StudyFlattened Structural Network Changes and Association of Hyperconnectivity With Symptom Severity in 2-7-Year-Old Children With Autism.Frontiers in neuroscienceOuyang, Minhui; Peng, Yun; Sotardi, Susan; Hu, Di; Zhu, Tianjia; Cheng, Hua; Huang, HaoJanuary 1, 2021Not Determined
35216885Create StudyEarly developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.Molecular genetics and metabolismTinker, Rory J; Falk, Marni J; Goldstein, Amy; George-Sankoh, Ibrahim; Xiao, Rui; Adang, Laura; Ganetzky, RebeccaApril 1, 2022Not Determined
35199482Create StudyConversational adaptation in children and teens with autism: Differences in talkativeness across contexts.Autism research : official journal of the International Society for Autism ResearchCola, Meredith; Zampella, Casey J; Yankowitz, Lisa D; Plate, Samantha; Petrulla, Victoria; Tena, Kimberly; Russell, Alison; Pandey, Juhi; Schultz, Robert T; Parish-Morris, JuliaJune 1, 2022Not Determined
35190816Create StudyAssessing the landscape of STXBP1-related disorders in 534 individuals.Brain : a journal of neurologyXian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga de Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; van Berkel, Annemiek; van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, IngoJune 3, 2022Not Determined
35012645Create StudyFriend matters: sex differences in social language during autism diagnostic interviews.Molecular autismCola, Meredith; Yankowitz, Lisa D; Tena, Kimberly; Russell, Alison; Bateman, Leila; Knox, Azia; Plate, Samantha; Cubit, Laura S; Zampella, Casey J; Pandey, Juhi; Schultz, Robert T; Parish-Morris, JuliaJanuary 10, 2022Not Determined
34967132Create StudyFeatures that best define the heterogeneity and homogeneity of autism in preschool-age children: A multisite case-control analysis replicated across two independent samples.Autism research : official journal of the International Society for Autism ResearchWiggins, Lisa D; Tian, Lin H; Rubenstein, Eric; Schieve, Laura; Daniels, Julie; Pazol, Karen; DiGuiseppi, Carolyn; Barger, Brian; Moody, Eric; Rosenberg, Steven; Bradley, Chyrise; Hsu, Melanie; Robinson Rosenberg, Cordelia; Christensen, Deborah; Crume, Tessa; Pandey, Juhi; Levy, Susan EMarch 1, 2022Not Determined
34911194Create StudyDissociating regional gray matter density and gray matter volume in autism spectrum condition.NeuroImage. ClinicalYankowitz, Lisa D; Yerys, Benjamin E; Herrington, John D; Pandey, Juhi; Schultz, Robert TJanuary 1, 2021Not Determined
34876687Create StudyReciprocal regulation of chaperone-mediated autophagy and the circadian clock.Nature cell biologyJuste, Yves R; Kaushik, Susmita; Bourdenx, Mathieu; Aflakpui, Ranee; Bandyopadhyay, Sanmay; Garcia, Fernando; Diaz, Antonio; Lindenau, Kristen; Tu, Vincent; Krause, Gregory J; Jafari, Maryam; Singh, Rajat; Muñoz, Javier; Macian, Fernando; Cuervo, Ana MariaDecember 1, 2021Not Determined
34859339Create StudySex Differences in Autism: Examining Intrinsic and Extrinsic Factors in Children and Adolescents Enrolled in a National ASD Cohort.Journal of autism and developmental disordersDillon, Emily F; Kanne, Stephen; Landa, Rebecca J; Annett, Robert; Bernier, Raphael; Bradley, Catherine; Carpenter, Laura; Kim, So Hyun; Parish-Morris, Julia; Schultz, Robert; Wodka, Ericka L; SPARK consortiumApril 1, 2023Not Determined
34781345Create StudyBehind the Wheel: Specialized Driving Instructors'' Experiences and Strategies for Teaching Autistic Adolescents to Drive.The American journal of occupational therapy : official publication of the American Occupational Therapy AssociationMyers, Rachel K; Carey, Meghan E; Bonsu, Janice M; Yerys, Benjamin E; Mollen, Cynthia J; Curry, Allison EMay 1, 2021Not Determined
34741438Create StudyEvaluating commercially available wireless cardiovascular monitors for measuring and transmitting real-time physiological responses in children with autism.Autism research : official journal of the International Society for Autism ResearchNuske, Heather J; Goodwin, Matthew S; Kushleyeva, Yelena; Forsyth, Daniel; Pennington, Jeffrey W; Masino, Aaron J; Finkel, Emma; Bhattacharya, Anushua; Tan, Jessica; Tai, Hungtzu; Atkinson-Diaz, Zabryna; Bonafide, Christopher P; Herrington, John DJanuary 1, 2022Not Determined
34708871Create StudyInfant vocalizing and phenotypic outcomes in autism: Evidence from the first 2 years.Child developmentPlate, Samantha; Yankowitz, Lisa; Resorla, Leslie; Swanson, Meghan R; Meera, Shoba Sreenath; Estes, Annette; Marrus, Natasha; Cola, Meredith; Petrulla, Victoria; Faggen, Aubrey; Pandey, Juhi; Paterson, Sarah; Pruett Jr, John R; Hazlett, Heather; Dager, Stephen; St John, Tanya; Botteron, Kelly; Zwaigenbaum, Lonnie; Piven, Joseph; Schultz, Robert T; Parish-Morris, Julia; IBIS NetworkMarch 1, 2022Not Determined
34653361Create StudyThe dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice.Current biology : CBKeenan, Brendan T; Galante, Raymond J; Lian, Jie; Zhang, Lin; Guo, Xiaofeng; Veatch, Olivia J; Chesler, Elissa J; O'Brien, W Timothy; Svenson, Karen L; Churchill, Gary A; Pack, Allan IDecember 6, 2021Not Determined
34651584Create StudyTemporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder-related deficits.The Journal of clinical investigationTerzic, Barbara; Davatolhagh, M Felicia; Ho, Yugong; Tang, Sheng; Liu, Yu-Ting; Xia, Zijie; Cui, Yue; Fuccillo, Marc V; Zhou, ZhaolanOctober 15, 2021Not Determined
34642905Create StudyElectrophysiological Biomarkers in Genetic Epilepsies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsArmstrong, Caren; Marsh, Eric DJuly 1, 2021Not Determined
34605383Create StudyReduced Fusiform Gyrus Activation During Face Processing in Pediatric Brain Tumor Survivors.Journal of the International Neuropsychological Society : JINSHocking, Matthew C; Schultz, Robert T; Minturn, Jane E; Brodsky, Cole; Albee, May; Herrington, John DOctober 1, 2022Not Determined
34580198Create StudyMidbrain dopaminergic innervation of the hippocampus is sufficient to modulate formation of aversive memories.Proceedings of the National Academy of Sciences of the United States of AmericaTsetsenis, Theodoros; Badyna, Julia K; Wilson, Julianne A; Zhang, Xiaowen; Krizman, Elizabeth N; Subramaniyan, Manivannan; Yang, Kechun; Thomas, Steven A; Dani, John AOctober 5, 2021Not Determined
34525943Create StudyBiomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG).Journal of neurodevelopmental disordersRoberts, Timothy P L; Kuschner, Emily S; Edgar, J ChristopherSeptember 15, 2021Not Determined
34431999Create StudyGenotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.Brain : a journal of neurologyJohannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke SSeptember 14, 2022Not Determined
34401780Create StudyProtocol for isolating young adult parvalbumin interneurons from the mouse brain for extraction of high-quality RNA.STAR protocolsJoseph, Donald J; Von Deimling, Markus; Hasegawa, Yuiko; Cristancho, Ana G; Risbud, Rashmi; McCoy, Almedia J; Marsh, Eric DSeptember 17, 2021Not Determined
34315336Create StudyCo-occurring attention-deficit/hyperactivity disorder and anxiety disorders differentially affect males and females with autism.The Clinical neuropsychologistWodka, Ericka L; Parish-Morris, Julia; Annett, Robert D; Carpenter, Laura; Dillon, Emily; Michaelson, Jacob; Kim, So Hyun; Landa, Rebecca; SPARK Consortium; Kanne, StephenJuly 1, 2022Not Determined
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33714840Create StudyMachine learning models to predict electroencephalographic seizures in critically ill children.SeizureHu, Jian; Fung, France W; Jacobwitz, Marin; Parikh, Darshana S; Vala, Lisa; Donnelly, Maureen; Topjian, Alexis A; Abend, Nicholas S; Xiao, RuiApril 1, 2021Not Determined
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33148293Create StudyConformation-selective tau monoclonal antibodies inhibit tau pathology in primary neurons and a mouse model of Alzheimer''s disease.Molecular neurodegenerationGibbons, Garrett S; Kim, Soo-Jung; Wu, Qihui; Riddle, Dawn M; Leight, Susan N; Changolkar, Lakshmi; Xu, Hong; Meymand, Emily S; O'Reilly, Mia; Zhang, Bin; Brunden, Kurt R; Trojanowski, John Q; Lee, Virginia M YNovember 4, 2020Not Determined
33132824Create StudyA Novel Method for High-Dimensional Anatomical Mapping of Extra-Axial Cerebrospinal Fluid: Application to the Infant Brain.Frontiers in neuroscienceMostapha, Mahmoud; Kim, Sun Hyung; Evans, Alan C; Dager, Stephen R; Estes, Annette M; McKinstry, Robert C; Botteron, Kelly N; Gerig, Guido; Pizer, Stephen M; Schultz, Robert T; Hazlett, Heather C; Piven, Joseph; Girault, Jessica B; Shen, Mark D; Styner, Martin AJanuary 1, 2020Not Determined
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33071446Create StudyExploring Autism Spectrum Disorders Using HLT.Proceedings of the conference. Association for Computational Linguistics. MeetingParish-Morris, Julia; Liberman, Mark; Ryant, Neville; Cieri, Christopher; Bateman, Leila; Ferguson, Emily; Schultz, Robert TJune 1, 2016Not Determined
33058286Create StudyNeuroanatomical underpinning of diffusion kurtosis measurements in the cerebral cortex of healthy macaque brains.Magnetic resonance in medicineZhu, Tianjia; Peng, Qinmu; Ouyang, Austin; Huang, HaoApril 1, 2021Not Determined
32924333Create StudyA Multimodal Study of the Contributions of Conduction Velocity to the Auditory Evoked Neuromagnetic Response: Anomalies in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism ResearchRoberts, Timothy P L; Bloy, Luke; Ku, Matt; Blaskey, Lisa; Jackel, Carissa R; Edgar, James Christopher; Berman, Jeffrey IOctober 1, 2020Not Determined
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32887940Create StudyCorrection: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.Genetics in medicine : official journal of the American College of Medical GeneticsGanesan, Shiva; Galer, Peter D; Helbig, Katherine L; McKeown, Sarah E; O'Brien, Margaret; Gonzalez, Alexander K; Felmeister, Alex S; Khankhanian, Pouya; Ellis, Colin A; Helbig, IngoNovember 1, 2020Not Determined
32857907Create StudyComprehensive Behavioral Phenotyping of a 16p11.2 Del Mouse Model for Neurodevelopmental Disorders.Autism research : official journal of the International Society for Autism ResearchLynch 3rd, Joseph F; Ferri, Sarah L; Angelakos, Christopher; Schoch, Hannah; Nickl-Jockschat, Thomas; Gonzalez, Arnold; O'Brien, William Timothy; Abel, TedOctober 1, 2020Not Determined
32853554Create StudySemantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.American journal of human geneticsGaler, Peter D; Ganesan, Shiva; Lewis-Smith, David; McKeown, Sarah E; Pendziwiat, Manuela; Helbig, Katherine L; Ellis, Colin A; Rademacher, Annika; Smith, Lacey; Poduri, Annapurna; Seiffert, Simone; von Spiczak, Sarah; Muhle, Hiltrud; van Baalen, Andreas; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network; Thomas, Rhys H; Krause, Roland; Weber, Yvonne; Helbig, IngoOctober 1, 2020Not Determined
32773773Create StudyA longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.Genetics in medicine : official journal of the American College of Medical GeneticsGanesan, Shiva; Galer, Peter D; Helbig, Katherine L; McKeown, Sarah E; O'Brien, Margaret; Gonzalez, Alexander K; Felmeister, Alex S; Khankhanian, Pouya; Ellis, Colin A; Helbig, IngoDecember 1, 2020Not Determined
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32650029Create StudyReciprocal communication between astrocytes and endothelial cells is required for astrocytic glutamate transporter 1 (GLT-1) expression.Neurochemistry internationalMartinez-Lozada, Zila; Robinson, Michael BOctober 1, 2020Not Determined
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32585155Create StudyAged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.Experimental neurologyMulcahey, Patrick J; Tang, Sheng; Takano, Hajime; White, Alicia; Davila Portillo, Dayana R; Kane, Owen M; Marsh, Eric D; Zhou, Zhaolan; Coulter, Douglas AOctober 1, 2020Not Determined
32558237Create StudyMale-specific alterations in structure of isolation call sequences of mouse pups with 16p11.2 deletion.Genes, brain, and behaviorAgarwalla, Swapna; Arroyo, Noelle S; Long, Natalie E; O'Brien, William T; Abel, Ted; Bandyopadhyay, SharbaSeptember 1, 2020Not Determined
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32547374Create StudyEvoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research.Frontiers in integrative neuroscienceSaby, Joni N; Peters, Sarika U; Roberts, Timothy P L; Nelson, Charles A; Marsh, Eric DJanuary 1, 2020Not Determined
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32516339Create StudyGene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.PloS oneSewda, Anshuman; Agopian, A J; Goldmuntz, Elizabeth; Hakonarson, Hakon; Morrow, Bernice E; Musfee, Fadi; Taylor, Deanne; Mitchell, Laura E; Pediatric Cardiac Genomics ConsortiumJanuary 1, 2020Not Determined
32511891Create StudyApplication of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.Molecular genetics & genomic medicineThompson, Wayne; Carey, Patrick Z; Donald, Tyhiesia; Nelson, Beverly; Bhoj, Elizabeth J; Li, Dong; Hakonarson, Hakon; Ramirez, Maricela; Elsea, Sarah H; Smith, Janice L; Carey, John C; Sobering, Andrew KAugust 1, 2020Not Determined
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32472944Create StudyComparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.Annals of neurologyCutri-French, Clare; Armstrong, Dallas; Saby, Joni; Gorman, Casey; Lane, Jane; Fu, Cary; Peters, Sarika U; Percy, Alan; Neul, Jeffrey L; Marsh, Eric DAugust 1, 2020Not Determined
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32463361Create StudyTUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model.eLifeSase, Sunetra; Almad, Akshata A; Boecker, C Alexander; Guedes-Dias, Pedro; Li, Jian J; Takanohashi, Asako; Patel, Akshilkumar; McCaffrey, Tara; Patel, Heta; Sirdeshpande, Divya; Curiel, Julian; Shih-Hwa Liu, Judy; Padiath, Quasar; Holzbaur, Erika Lf; Scherer, Steven S; Vanderver, AdelineMay 28, 2020Not Determined
32439066Create StudyClinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.Clinics in laboratory medicineShen, Lishuang; McCormick, Elizabeth M; Muraresku, Colleen Clarke; Falk, Marni J; Gai, XiaowuJune 1, 2020Not Determined
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32360592Create StudyIntellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders.NeuroscienceFagiolini, Michela; Patrizi, Annarita; LeBlanc, Jocelyn; Jin, Lee-Way; Maezawa, Izumi; Sinnett, Sarah; Gray, Steven J; Molholm, Sophie; Foxe, John J; Johnston, Michael V; Naidu, Sakkubai; Blue, Mary; Hossain, Ahamed; Kadam, Shilpa; Zhao, Xinyu; Chang, Quiang; Zhou, Zhaolan; Zoghbi, HudaOctober 1, 2020Not Determined
32337332Create StudyMitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurology. GeneticsBarca, Emanuele; Long, Yuelin; Cooley, Victoria; Schoenaker, Robert; Emmanuele, Valentina; DiMauro, Salvatore; Cohen, Bruce H; Karaa, Amel; Vladutiu, Georgirene D; Haas, Richard; Van Hove, Johan L K; Scaglia, Fernando; Parikh, Sumit; Bedoyan, Jirair K; DeBrosse, Susanne D; Gavrilova, Ralitza H; Saneto, Russell P; Enns, Gregory M; Stacpoole, Peter W; Ganesh, Jaya; Larson, Austin; Zolkipli-Cunningham, Zarazuela; Falk, Marni J; Goldstein, Amy C; Tarnopolsky, Mark; Gropman, Andrea; Camp, Kathryn; Krotoski, Danuta; Engelstad, Kristin; Rosales, Xiomara Q; Kriger, Joshua; Grier, Johnston; Buchsbaum, Richard; Thompson, John L P; Hirano, MichioApril 1, 2020Not Determined
32336407Create StudyMagnetoencephalography for Schizophrenia.Neuroimaging clinics of North AmericaEdgar, J Christopher; Guha, Anika; Miller, Gregory AMay 2020Not Determined
32336406Create StudyMagnetoencephalography Research in Pediatric Autism Spectrum Disorder.Neuroimaging clinics of North AmericaGreen, Heather L; Edgar, J Christopher; Matsuzaki, Junko; Roberts, Timothy P LMay 2020Not Determined
32314879Create StudyThe Association Between Parental Age and Autism-Related Outcomes in Children at High Familial Risk for Autism.Autism research : official journal of the International Society for Autism ResearchLyall, Kristen; Song, Lanxin; Botteron, Kelly; Croen, Lisa A; Dager, Stephen R; Fallin, M Daniele; Hazlett, Heather C; Kauffman, Elizabeth; Landa, Rebecca; Ladd-Acosta, Christine; Messinger, Daniel S; Ozonoff, Sally; Pandey, Juhi; Piven, Joseph; Schmidt, Rebecca J; Schultz, Robert T; Stone, Wendy L; Newschaffer, Craig J; Volk, Heather EJune 1, 2020Not Determined
32293671Create StudyNovel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.Brain : a journal of neurologyZilmer, Monica; Edmondson, Andrew C; Khetarpal, Sumeet A; Alesi, Viola; Zaki, Maha S; Rostasy, Kevin; Madsen, Camilla G; Lepri, Francesca R; Sinibaldi, Lorenzo; Cusmai, Raffaella; Novelli, Antonio; Issa, Mahmoud Y; Fenger, Christina D; Abou Jamra, Rami; Reutter, Heiko; Briuglia, Silvana; Agolini, Emanuele; Hansen, Lars; Petäjä-Repo, Ulla E; Hintze, John; Raymond, Kimiyo M; Liedtke, Kristen; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G; Vitali, Cecilia; O'Brien, W Timothy; Gardella, Elena; Rubboli, Guido; Rader, Daniel J; Schjoldager, Katrine T; Møller, Rikke SApril 2020Not Determined
32276067Create StudySex differences associated with corpus callosum development in human infants: A longitudinal multimodal imaging study.NeuroImageSchmied, Astrid; Soda, Takahiro; Gerig, Guido; Styner, Martin; Swanson, Meghan R; Elison, Jed T; Shen, Mark D; McKinstry, Robert C; Pruett Jr, John R; Botteron, Kelly N; Estes, Annette M; Dager, Stephen R; Hazlett, Heather C; Schultz, Robert T; Piven, Joseph; Wolff, Jason J; IBIS NetworkJuly 15, 2020Not Determined
32220329Create StudyNeuroinflammation and EIF2 Signaling Persist despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection.Stem cell reportsRyan, Sean K; Gonzalez, Michael V; Garifallou, James P; Bennett, Frederick C; Williams, Kimberly S; Sotuyo, Nathaniel P; Mironets, Eugene; Cook, Kieona; Hakonarson, Hakon; Anderson, Stewart A; Jordan-Sciutto, Kelly LApril 14, 2020Not Determined
32033212Create StudyThe Metabolomic Signature of the Placenta in Spontaneous Preterm Birth.International journal of molecular sciencesElshenawy, Summer; Pinney, Sara E; Stuart, Tami; Doulias, Paschalis-Thomas; Zura, Gabriella; Parry, Samuel; Elovitz, Michal A; Bennett, Michael J; Bansal, Amita; Strauss 3rd, Jerome F; Ischiropoulos, Harry; Simmons, Rebecca AFebruary 4, 2020Not Determined
32030597Create StudyInhibitors of Myelination and Remyelination, Bone Morphogenetic Proteins, are Upregulated in Human Neurological Disease.Neurochemical researchGrinspan, Judith BMarch 1, 2020Not Determined
32024459Create StudyQuantitative trait variation in ASD probands and toddler sibling outcomes at 24 months.Journal of neurodevelopmental disordersGirault, Jessica B; Swanson, Meghan R; Meera, Shoba S; Grzadzinski, Rebecca L; Shen, Mark D; Burrows, Catherine A; Wolff, Jason J; Pandey, Juhi; John, Tanya St; Estes, Annette; Zwaigenbaum, Lonnie; Botteron, Kelly N; Hazlett, Heather C; Dager, Stephen R; Schultz, Robert T; Constantino, John N; Piven, Joseph; IBIS NetworkFebruary 5, 2020Not Determined
32007990Create StudyDelayed Auditory Evoked Responses in Autism Spectrum Disorder across the Life Span.Developmental neuroscienceMatsuzaki, Junko; Ku, Matthew; Dipiero, Marissa; Chiang, Taylor; Saby, Joni; Blaskey, Lisa; Kuschner, Emily S; Kim, Mina; Berman, Jeffrey I; Bloy, Luke; Chen, Yu-Han; Dell, John; Liu, Song; Brodkin, Edward S; Embick, David; Roberts, Timothy P LJanuary 2019Not Determined
31999166Create StudyDiminished social attention in pediatric brain tumor survivors: Using eye tracking technology during naturalistic social perception.NeuropsychologyHocking, Matthew C; Parish-Morris, Julia; Schultz, Robert T; Minturn, Jane E; Brodsky, Cole; Shabason, Emily K; Herrington, John DMarch 1, 2020Not Determined
31949314Create StudyGATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.Genetics in medicine : official journal of the American College of Medical GeneticsShieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Undiagnosed Diseases Network; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham Jr, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler MarkMay 1, 2020Not Determined
31907754Create StudyBayesian regression-based developmental norms for the Benton Facial Recognition Test in males and females.Behavior research methodsWang, Leah A L; Herrington, John D; Tunç, Birkan; Schultz, Robert TAugust 2020Not Determined
31867092Create StudyDeviation from normative brain development is associated with symptom severity in autism spectrum disorder.Molecular autismTunç, Birkan; Yankowitz, Lisa D; Parker, Drew; Alappatt, Jacob A; Pandey, Juhi; Schultz, Robert T; Verma, RaginiJanuary 2019Not Determined
31866839Create StudyA MEG Study of Acute Arbaclofen (STX-209) Administration.Frontiers in integrative neuroscienceRoberts, Timothy P L; Bloy, Luke; Blaskey, Lisa; Kuschner, Emily; Gaetz, Leah; Anwar, Ayesha; Ku, Matt; Dipiero, Marissa; Bennett, Amanda; Edgar, J ChristopherJanuary 1, 2019Not Determined
31860064Create StudySpatial distribution of interictal spikes fluctuates over time and localizes seizure onset.Brain : a journal of neurologyConrad, Erin C; Tomlinson, Samuel B; Wong, Jeremy N; Oechsel, Kelly F; Shinohara, Russell T; Litt, Brian; Davis, Kathryn A; Marsh, Eric DFebruary 2020Not Determined
31819951Create StudyDifferential White Matter Maturation from Birth to 8 Years of Age.Cerebral cortex (New York, N.Y. : 1991)Yu, Qinlin; Peng, Yun; Kang, Huiying; Peng, Qinmu; Ouyang, Minhui; Slinger, Michelle; Hu, Di; Shou, Haochang; Fang, Fang; Huang, HaoApril 2020Not Determined
31811119Create StudyLinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.Nature communicationsFang, Li; Kao, Charlly; Gonzalez, Michael V; Mafra, Fernanda A; Pellegrino da Silva, Renata; Li, Mingyao; Wenzel, Sören-Sebastian; Wimmer, Katharina; Hakonarson, Hakon; Wang, KaiDecember 2019Not Determined
31776836Create StudyProtease Inhibitors, Saquinavir and Darunavir, Inhibit Oligodendrocyte Maturation: Implications for Lysosomal Stress.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune PharmacologyFesta, Lindsay; Roth, Lindsay M; K Jensen, Brigid; Geiger, Jonathan D; Jordan-Sciutto, Kelly L; Grinspan, Judith BMarch 1, 2021Not Determined
31740674Create StudyMitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.Translational psychiatryLi, Jianping; Ryan, Sean K; Deboer, Erik; Cook, Kieona; Fitzgerald, Shane; Lachman, Herbert M; Wallace, Douglas C; Goldberg, Ethan M; Anderson, Stewart ANovember 2019Not Determined
31726253Create StudyEvaluating motor cortical oscillations and age-related change in autism spectrum disorder.NeuroImageGaetz, William; Rhodes, Edward; Bloy, Luke; Blaskey, Lisa; Jackel, Carissa R; Brodkin, Edward S; Waldman, Amy; Embick, David; Hall, Stephen; Roberts, Timothy P LFebruary 2020Not Determined
31587868Create StudyMissense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.American journal of human geneticsFiordaliso, Sarah K; Iwata-Otsubo, Aiko; Ritter, Alyssa L; Quesnel-Vallières, Mathieu; Fujiki, Katsunori; Nishi, Eriko; Hancarova, Miroslava; Miyake, Noriko; Morton, Jenny E V; Lee, Sangmoon; Hackmann, Karl; Bando, Masashige; Masuda, Koji; Nakato, Ryuichiro; Arakawa, Michiko; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Takeda, Ryojun; Harr, Margaret; Keena, Beth; Zackai, Elaine H; Okamoto, Nobuhiko; Mizuno, Seiji; Ko, Jung Min; Valachova, Alica; Prchalova, Darina; Vlckova, Marketa; Pippucci, Tommaso; Seiler, Christoph; Choi, Murim; Matsumoto, Naomichi; Di Donato, Nataliya; Barash, Yoseph; Sedlacek, Zdenek; Shirahige, Katsuhiko; Izumi, KosukeNovember 7, 2019Not Determined
31573978Create StudyNeuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder.JCI insightAhrens-Nicklas, Rebecca C; Tecedor, Luis; Hall, Arron F; Lysenko, Elena; Cohen, Akiva S; Davidson, Beverly L; Marsh, Eric DNovember 2019Not Determined
31559893Create StudyDevelopmental Outcomes of Aicardi Goutières Syndrome.Journal of child neurologyAdang, Laura; Gavazzi, Francesco; De Simone, Micaela; Fazzi, Elisa; Galli, Jessica; Koh, Jamie; Kramer-Golinkoff, Julia; De Giorgis, Valentina; Orcesi, Simona; Peer, Kyle; Ulrick, Nicole; Woidill, Sarah; Shults, Justine; Vanderver, AdelineJanuary 1, 2020Not Determined
31538340Create StudyElectroencephalographic seizures in critically ill children: Management and adverse events.EpilepsiaFung, France W; Jacobwitz, Marin; Vala, Lisa; Parikh, Darshana; Donnelly, Maureen; Xiao, Rui; Topjian, Alexis A; Abend, Nicholas SOctober 1, 2019Not Determined
31520244Create StudyAdaptive Behavior in Youth with Autism Spectrum Disorder: The Role of Flexibility.Journal of autism and developmental disordersBertollo, Jennifer R; Strang, John F; Anthony, Laura G; Kenworthy, Lauren; Wallace, Gregory L; Yerys, Benjamin EJanuary 2020Not Determined
31479473Create StudyMitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.PloS oneGustafson, Margaret A; McCormick, Elizabeth M; Perera, Lalith; Longley, Matthew J; Bai, Renkui; Kong, Jianping; Dulik, Matthew; Shen, Lishuang; Goldstein, Amy C; McCormack, Shana E; Laskin, Benjamin L; Leroy, Bart P; Ortiz-Gonzalez, Xilma R; Ellington, Meredith G; Copeland, William C; Falk, Marni JJanuary 1, 2019Not Determined
31473353Create StudyImaging baby brain development.NeuroImageHuang, Hao; Huppi, Petra S; He, Yong; Lerch, JasonDecember 2019Not Determined
31472015Create StudyIdentifying electrophysiological markers of autism spectrum disorder and schizophrenia against a backdrop of normal brain development.Psychiatry and clinical neurosciencesEdgar, J ChristopherJanuary 1, 2020Not Determined
31428297Create StudyDelayed M50/M100 evoked response component latency in minimally verbal/nonverbal children who have autism spectrum disorder.Molecular autismRoberts, Timothy P L; Matsuzaki, Junko; Blaskey, Lisa; Bloy, Luke; Edgar, J Christopher; Kim, Mina; Ku, Matthew; Kuschner, Emily S; Embick, DavidJanuary 2019Not Determined
31416743Create StudyThe proteome and its dynamics: A missing piece for integrative multi-omics in schizophrenia.Schizophrenia researchBorgmann-Winter, Karin E; Wang, Kai; Bandyopadhyay, Sabyasachi; Torshizi, Abolfazl Doostparast; Blair, Ian A; Hahn, Chang-GyuMarch 1, 2020Not Determined
31374199Create StudyModeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A.Cell stem cellCardenas-Diaz, Fabian L; Osorio-Quintero, Catherine; Diaz-Miranda, Maria A; Kishore, Siddharth; Leavens, Karla; Jobaliya, Chintan; Stanescu, Diana; Ortiz-Gonzalez, Xilma; Yoon, Christine; Chen, Christopher S; Haliyur, Rachana; Brissova, Marcela; Powers, Alvin C; French, Deborah L; Gadue, PaulAugust 1, 2019Not Determined
31363737Create StudyCircuit-based interventions in the dentate gyrus rescue epilepsy-associated cognitive dysfunction.Brain : a journal of neurologyKahn, Julia B; Port, Russell G; Yue, Cuiyong; Takano, Hajime; Coulter, Douglas ASeptember 2019Not Determined
31341297Create StudyH+ transport is an integral function of the mitochondrial ADP/ATP carrier.NatureBertholet, Ambre M; Chouchani, Edward T; Kazak, Lawrence; Angelin, Alessia; Fedorenko, Andriy; Long, Jonathan Z; Vidoni, Sara; Garrity, Ryan; Cho, Joonseok; Terada, Naohiro; Wallace, Douglas C; Spiegelman, Bruce M; Kirichok, YuriyJuly 1, 2019Not Determined
31297179Create StudyVisual attention to faces in children with autism spectrum disorder: are there sex differences?Molecular autismHarrop, Clare; Jones, Desiree; Zheng, Shuting; Nowell, Sallie; Schultz, Robert; Parish-Morris, JuliaJanuary 2019Not Determined
31280271Create StudyAbnormal Auditory Mismatch Fields in Children and Adolescents with 47,XYY Syndrome.Developmental neuroscienceMatsuzaki, Junko; Bloy, Luke; Blaskey, Lisa; Miller, Judith; Kuschner, Emily S; Ku, Matthew; Dipiero, Marissa; Airey, Megan; Edgar, J Christopher; Embick, David; Ross, Judith L; Roberts, Timothy P LJanuary 2019Not Determined
31270155Create StudySensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.The Journal of neuroscience : the official journal of the Society for NeuroscienceHinkley, Leighton B N; Dale, Corby L; Luks, Tracy L; Findlay, Anne M; Bukshpun, Polina; Pojman, Nick; Thieu, Tony; Chung, Wendy K; Berman, Jeffrey; Roberts, Timothy P L; Mukherjee, Pratik; Sherr, Elliott H; Nagarajan, Srikantan SSeptember 11, 2019Not Determined
31263422Create StudyHIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction.Frontiers in physiologyAnton, Lauren; DeVine, Ann; Polyak, Erzsebet; Olarerin-George, Anthony; Brown, Amy G; Falk, Marni J; Elovitz, Michal AJanuary 2019Not Determined
31253706Create StudyRegulation of nuclear epigenome by mitochondrial DNA heteroplasmy.Proceedings of the National Academy of Sciences of the United States of AmericaKopinski PK, Janssen KA, Schaefer PM, Trefely S, Perry CE, Potluri P, Tintos-Hernandez JA, Singh LN, Karch KR, Campbell SL, Doan MT, Jiang H, Nissim I, Nakamaru-Ogiso E, Wellen KE, Snyder NW, Garcia BA, Wallace DCAugust 2019Not Determined
31247475Create StudySynthetic aperture magnetometry and excess kurtosis mapping of Magnetoencephalography (MEG) is predictive of epilepsy surgical outcome in a large pediatric cohort.Epilepsy researchGofshteyn JS, Le T, Kessler S, Kamens R, Carr C, Gaetz W, Bloy L, Roberts TPL, Schwartz ES, Marsh EDSeptember 2019Not Determined
31201320Create StudyAltered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder.Nature communicationsTang, Sheng; Terzic, Barbara; Wang, I-Ting Judy; Sarmiento, Nicolas; Sizov, Katherine; Cui, Yue; Takano, Hajime; Marsh, Eric D; Zhou, Zhaolan; Coulter, Douglas AJune 2019Not Determined
31161682Create StudyY chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsRoss, Judith L; Bloy, Luke; Roberts, Timothy P L; Miller, Judith; Xing, Chao; Silverman, Lawrence A; Zinn, Andrew ROctober 2019Not Determined
31147226Create StudySeverity Assessment in CDKL5 Deficiency Disorder.Pediatric neurologyDemarest, Scott; Pestana-Knight, Elia M; Olson, Heather E; Downs, Jenny; Marsh, Eric D; Kaufmann, Walter E; Partridge, Carol-Anne; Leonard, Helen; Gwadry-Sridhar, Femida; Frame, Katheryn Elibri; Cross, J Helen; Chin, Richard F M; Parikh, Sumit; Panzer, Axel; Weisenberg, Judith; Utley, Karen; Jaksha, Amanda; Amin, Sam; Khwaja, Omar; Devinsky, Orrin; Neul, Jeffery L; Percy, Alan K; Benke, Tim AAugust 2019Not Determined
31136103Create StudyAbnormal auditory mismatch fields are associated with communication impairment in both verbal and minimally verbal/nonverbal children who have autism spectrum disorder.Autism research : official journal of the International Society for Autism ResearchMatsuzaki, Junko; Kuschner, Emily S; Blaskey, Lisa; Bloy, Luke; Kim, Mina; Ku, Matthew; Edgar, James Christopher; Embick, David; Roberts, Timothy P LAugust 2019Relevant
31106327Create StudyDoc2Hpo: a web application for efficient and accurate HPO concept curation.Nucleic acids researchLiu C, Peres Kury FS, Li Z, Ta C, Wang K, Weng CJuly 2019Not Determined
31104773Create StudyA Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.American journal of human geneticsHelbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A; Hümpfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Štěrbová, Katalin; Hammer, Trine Bjørg; Møller, Rikke S; Shinde, Deepali N; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L; Haucke, Volker; Weber, Yvonne G; EuroEPINOMICS-RES Consortium; GRIN ConsortiumJune 6, 2019Not Determined
31069618Create StudyA Spectrotemporal Correlate of Language Impairment in Autism Spectrum Disorder.Journal of autism and developmental disordersBloy, Luke; Shwayder, Kobey; Blaskey, Lisa; Roberts, Timothy P L; Embick, DavidAugust 2019Not Determined
31063462Create StudyWhat's in a name? A preliminary event-related potential study of response to name in preschool children with and without autism spectrum disorder.PloS oneThomas RP, Wang LAL, Guthrie W, Cola M, Mccleery JP, Pandey J, Schultz RT, Miller JSJanuary 2019Not Determined
31036761Create Studyα-Synuclein (αSyn) Preformed Fibrils Induce Endogenous αSyn Aggregation, Compromise Synaptic Activity and Enhance Synapse Loss in Cultured Excitatory Hippocampal Neurons.The Journal of neuroscience : the official journal of the Society for NeuroscienceWu Q, Takano H, Riddle DM, Trojanowski JQ, Coulter DA, Lee VMJune 2019Not Determined
31033654Create StudyEarly EEG Features for Outcome Prediction After Cardiac Arrest in Children.Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyFung, France W; Topjian, Alexis A; Xiao, Rui; Abend, Nicholas SSeptember 1, 2019Not Determined
31029150Create StudyGene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.Clinical epigeneticsBend, Eric G; Aref-Eshghi, Erfan; Everman, David B; Rogers, R Curtis; Cathey, Sara S; Prijoles, Eloise J; Lyons, Michael J; Davis, Heather; Clarkson, Katie; Gripp, Karen W; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine; Mark, Paul; Hakonarson, Hakon; Demmer, Laurie A; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Rodenhiser, David; Friez, Michael J; Stevenson, Roger E; Schwartz, Charles E; Sadikovic, BekimApril 27, 2019Not Determined
31026201Create StudyMore Than IQ: Executive Function Explains Adaptive Behavior Above and Beyond Nonverbal IQ in Youth With Autism and Lower IQ.American journal on intellectual and developmental disabilitiesBertollo, Jennifer R; Yerys, Benjamin EMay 2019Not Determined
31018246Create StudyImpact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.Annals of neurologyPosset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, Mccandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S, July 2019Not Determined
31006860Create StudyReproducibility of interictal spike propagation in children with refractory epilepsy.EpilepsiaTomlinson, Samuel B; Wong, Jeremy N; Conrad, Erin C; Kennedy, Benjamin C; Marsh, Eric DMay 2019Not Determined
30981277Create StudyAdaptation to different communicative contexts: an eye tracking study of autistic adults.Journal of neurodevelopmental disordersParish-Morris J, Pallathra AA, Ferguson E, Maddox BB, Pomykacz A, Perez LS, Bateman L, Pandey J, Schultz RT, Brodkin ESApril 2019Not Determined
30977854Create StudyUse of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.JAMA network openBalciuniene, Jorune; DeChene, Elizabeth T; Akgumus, Gozde; Romasko, Edward J; Cao, Kajia; Dubbs, Holly A; Mulchandani, Surabhi; Spinner, Nancy B; Conlin, Laura K; Marsh, Eric D; Goldberg, Ethan; Helbig, Ingo; Sarmady, Mahdi; Abou Tayoun, AhmadApril 5, 2019Not Determined
30977235Create StudyAbnormal maturation of the resting-state peak alpha frequency in children with autism spectrum disorder.Human brain mappingEdgar JC, Dipiero M, Mcbride E, Green HL, Berman J, Ku M, Liu S, Blaskey L, Kuschner E, Airey M, Ross JL, Bloy L, Kim M, Koppers S, Gaetz W, Schultz RT, Roberts TPLAugust 2019Not Determined
30962869Create StudyLinguistic markers of autism in girls: evidence of a "blended phenotype" during storytelling.Molecular autismBoorse, Jaclin; Cola, Meredith; Plate, Samantha; Yankowitz, Lisa; Pandey, Juhi; Schultz, Robert T; Parish-Morris, JuliaJanuary 2019Not Determined
30952813Create StudyAMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder.The Journal of neuroscience : the official journal of the Society for NeuroscienceYennawar, Madhumita; White, Rachel S; Jensen, Frances EJune 2019Not Determined
30940476Create StudyAdult hippocampal neurogenesis is not necessary for the response to lithium in the forced swim test.Neuroscience lettersSnitow ME, Zanni G, Ciesielski B, Burgess-Jones P, Eisch AJ, O'Brien WT, Klein PSJune 2019Not Determined
30900464Create StudyChildren with Autism Spectrum Disorder Demonstrate Regionally Specific Altered Resting-State Phase-Amplitude Coupling.Brain connectivityPort, Russell G; Dipiero, Marissa A; Ku, Matthew; Liu, Song; Blaskey, Lisa; Kuschner, Emily S; Edgar, J Christopher; Roberts, Timothy P L; Berman, Jeffrey IJune 2019Not Determined
30896674Create StudyAuditory evoked response delays in children with 47,XYY syndrome.NeuroreportBloy L, Ku M, Edgar JC, Miller JS, Blaskey L, Ross J, Roberts TPLMay 2019Not Determined
30833507Create StudySystems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.The Journal of neuroscience : the official journal of the Society for NeuroscienceGokhale, Avanti; Hartwig, Cortnie; Freeman, Amanda A H; Bassell, Julia L; Zlatic, Stephanie A; Sapp Savas, Christie; Vadlamudi, Trishna; Abudulai, Farida; Pham, Tyler T; Crocker, Amanda; Werner, Erica; Wen, Zhexing; Repetto, Gabriela M; Gogos, Joseph A; Claypool, Steven M; Forsyth, Jennifer K; Bearden, Carrie E; Glausier, Jill; Lewis, David A; Seyfried, Nicholas T; Kwong, Jennifer Q; Faundez, VictorMay 2019Not Determined
30827496Create StudyMissense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.American journal of human geneticsCogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; CAUSES Study; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie; Deciphering Developmental Disorders study; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A F; Nellaker, Christoffer; Yang, Yaping; Lupski, James R; Goldstein, David B; Eichler, Evan E; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe MMarch 7, 2019Not Determined
30801523Create StudyPhase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients.TransplantationSmets, Françoise; Dobbelaere, Dries; McKiernan, Patrick; Dionisi-Vici, Carlo; Broué, Pierre; Jacquemin, Emmanuel; Lopes, Ana Isabel; Gonçalves, Isabel; Mandel, Hanna; Pawlowska, Joanna; Kamińska, Diana; Shteyer, Eyal; Torre, Giuliano; Shapiro, Riki; Eyskens, François; Clapuyt, Philippe; Gissen, Paul; Pariente, Danièle; Grunewald, Stephanie; Yudkoff, Marc; Binda, Maria Mercedes; Najimi, Mustapha; Belmonte, Nathalie; de Vos, Beatrice; Thonnard, Joelle; Sokal, EtienneSeptember 2019Not Determined
30797034Create StudyHome-cage hypoactivity in mouse genetic models of autism spectrum disorder.Neurobiology of learning and memoryAngelakos, Christopher C; Tudor, Jennifer C; Ferri, Sarah L; Jongens, Thomas A; Abel, TedNovember 2019Not Determined
30788845Create StudyCharacterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.Clinical geneticsPeters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AKMay 2019Not Determined
30782802Create StudyDifferential cortical microstructural maturation in the preterm human brain with diffusion kurtosis and tensor imaging.Proceedings of the National Academy of Sciences of the United States of AmericaOuyang M, Jeon T, Sotiras A, Peng Q, Mishra V, Halovanic C, Chen M, Chalak L, Rollins N, Roberts TPL, Davatzikos C, Huang HMarch 2019Not Determined
30777604Create StudyFunctional Connectivity of Frontoparietal and Salience/Ventral Attention Networks Have Independent Associations With Co-occurring Attention-Deficit/Hyperactivity Disorder Symptoms in Children With Autism.Biological psychiatry. Cognitive neuroscience and neuroimagingYerys, Benjamin E; Tunç, Birkan; Satterthwaite, Theodore D; Antezana, Ligia; Mosner, Maya G; Bertollo, Jennifer R; Guy, Lisa; Schultz, Robert T; Herrington, John DApril 2019Not Determined
30763462Create StudyMT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.Human mutationGanetzky, Rebecca D; Stendel, Claudia; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy C; Klopstock, Thomas; Falk, Marni JMay 2019Not Determined
30745051Create StudyChronic intrauterine hypoxia alters neurodevelopment in fetal sheep.The Journal of thoracic and cardiovascular surgeryLawrence KM, Mcgovern PE, Mejaddam A, Rossidis AC, Baumgarten H, Kim A, Grinspan JB, Licht DJ, Didier RA, Vossough A, Radaelli E, Rychik J, Song L, Peranteau WH, Davey MG, Flake AW, Gaynor JWMay 2019Not Determined
30685329Create StudyMagnetoencephalography and the infant brain.NeuroImageChen YH, Saby J, Kuschner E, Gaetz W, Edgar JC, Roberts TPLApril 2019Not Determined
30668749Create StudyPre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.Human molecular geneticsGuha, Sujay; Konkwo, Chigoziri; Lavorato, Manuela; Mathew, Neal D; Peng, Min; Ostrovsky, Julian; Kwon, Young-Joon; Polyak, Erzsebet; Lightfoot, Richard; Seiler, Christoph; Xiao, Rui; Bennett, Michael; Zhang, Zhe; Nakamaru-Ogiso, Eiko; Falk, Marni JJune 2019Not Determined
30659230Create StudyArx Expression Suppresses Ventralization of the Developing Dorsal Forebrain.Scientific reportsLim Y, Cho IT, Shi X, Grinspan JB, Cho G, Golden JAJanuary 2019Not Determined
30653964Create StudyThe association of mitochondrial DNA haplogroups with POAG in African Americans.Experimental eye researchGudiseva, Harini V; Pistilli, Maxwell; Salowe, Rebecca; Singh, Larry N; Collins, David W; Cole, Brian; He, Jie; Merriam, Sayaka; Khachataryan, Naira; Henderer, Jeffrey; Addis, Victoria; Cui, Qi N; Sankar, Prithvi S; Miller-Ellis, Eydie; Chavali, Venkata R M; Ying, Gui-Shuang; Wallace, Douglas; O'Brien, Joan MApril 2019Not Determined
30633814Create StudyThe usual suspects, dopamine and alpha-synuclein, conspire to cause neurodegeneration.Movement disorders : official journal of the Movement Disorder SocietyMor, Danielle E; Daniels, Malcolm J; Ischiropoulos, HarryFebruary 2019Not Determined
30613471Create StudyConducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.Translational science of rare diseasesAh Mew, Nicholas; Cnaan, Avital; McCarter, Robert; Choi, Henry; Glass, Penny; Rice, Katie; Scavo, Louis; Gillespie, Catherine W; Diaz, George A; Berry, Gerard T; Wong, Derek; Konczal, Laura; McCandless, Shawn E; Coughlin Ii, Curtis R; Weisfeld-Adams, James D; Ficicioglu, Can; Yudkoff, Mark; Enns, Gregory M; Lichter-Konecki, Uta; Gallagher, Renata; Tuchman, MendelDecember 20, 2018Not Determined
30602070Create StudyPossible Contribution of Wnt-Responsive Chondroprogenitors to the Postnatal Murine Growth Plate.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchUsami, Yu; Gunawardena, Aruni T; Francois, Noelle B; Otsuru, Satoru; Takano, Hajime; Hirose, Katsutoshi; Matsuoka, Masatake; Suzuki, Akiko; Huang, Jiahui; Qin, Ling; Iwamoto, Masahiro; Yang, Wentian; Toyosawa, Satoru; Enomoto-Iwamoto, MotomiMay 2019Not Determined
30599264Create StudyAbnormal auditory mismatch fields in adults with autism spectrum disorder.Neuroscience lettersMatsuzaki, Junko; Ku, Matthew; Berman, Jeffrey I; Blaskey, Lisa; Bloy, Luke; Chen, Yu-Han; Dell, John; Edgar, J Christopher; Kuschner, Emily S; Liu, Song; Saby, Joni; Brodkin, Edward S; Roberts, Timothy P LApril 2019Not Determined
30588822Create StudyParvalbumin Cell Ablation of NMDA-R1 Leads to Altered Phase, But Not Amplitude, of Gamma-Band Cross-Frequency Coupling.Brain connectivityPort, Russell G; Berman, Jeffrey I; Liu, Song; Featherstone, Robert E; Roberts, Timothy P L; Siegel, Steven JApril 2019Not Determined
30579583Create StudyEarly Indicators of Creatine Transporter Deficiency.The Journal of pediatricsMiller, Judith S; Thomas, Rebecca P; Bennett, Amanda; Bianconi, Simona; Bruchey, Aleksandra; Davis, Robert J; Ficicioglu, Can; Guthrie, Whitney; Porter, Forbes D; Thurm, AudreyMarch 2019Not Determined
30541425Create StudyArterial spin labeling provides a reliable neurobiological marker of autism spectrum disorder.Journal of neurodevelopmental disordersYerys, Benjamin E; Herrington, John D; Bartley, Gregory K; Liu, Hua-Shan; Detre, John A; Schultz, Robert TDecember 2018Not Determined
30536762Create StudyThe array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsNeul, Jeffrey L; Benke, Timothy A; Marsh, Eric D; Skinner, Steven A; Merritt, Jonathan; Lieberman, David N; Standridge, Shannon; Feyma, Timothy; Heydemann, Peter; Peters, Sarika; Ryther, Robin; Jones, Mary; Suter, Bernhard; Kaufmann, Walter E; Glaze, Daniel G; Percy, Alan KJanuary 2019Not Determined
30534949Create StudyDevelopment and Emergence of Individual Variability in the Functional Connectivity Architecture of the Preterm Human Brain.Cerebral cortex (New York, N.Y. : 1991)Xu, Yuehua; Cao, Miao; Liao, Xuhong; Xia, Mingrui; Wang, Xindi; Jeon, Tina; Ouyang, Minhui; Chalak, Lina; Rollins, Nancy; Huang, Hao; He, YongSeptember 13, 2019Not Determined
30526856Create StudyHighly efficient 5'' capping of mitochondrial RNA with NAD+ and NADH by yeast and human mitochondrial RNA polymerase.eLifeBird, Jeremy G; Basu, Urmimala; Kuster, David; Ramachandran, Aparna; Grudzien-Nogalska, Ewa; Towheed, Atif; Wallace, Douglas C; Kiledjian, Megerditch; Temiakov, Dmitry; Patel, Smita S; Ebright, Richard H; Nickels, Bryce EDecember 12, 2018Not Determined
30523479Create StudyAtypicalities of Gesture Form and Function in Autistic Adults.Journal of autism and developmental disordersde Marchena, A; Kim, E S; Bagdasarov, A; Parish-Morris, J; Maddox, B B; Brodkin, E S; Schultz, R TApril 2019Not Determined
30475209Create StudyEndocytosis at the Drosophila blood-brain barrier as a function for sleep.eLifeArtiushin, Gregory; Zhang, Shirley L; Tricoire, Hervé; Sehgal, AmitaNovember 26, 2018Not Determined
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30444552Create StudyCLARITY reveals a more protracted temporal course of axon swelling and disconnection than previously described following traumatic brain injury.Brain pathology (Zurich, Switzerland)Weber, Maura T; Arena, John D; Xiao, Rui; Wolf, John A; Johnson, Victoria EMay 2019Not Determined
30391323Create StudyNeuronal serine racemase associates with Disrupted-In-Schizophrenia-1 and DISC1 agglomerates: Implications for schizophrenia.Neuroscience lettersJacobi, Ariel A; Halawani, Sarah; Lynch, David R; Lin, HongJanuary 2019Not Determined
30375917Create StudyNon-invasive optical neuromonitoring of the temperature-dependence of cerebral oxygen metabolism during deep hypothermic cardiopulmonary bypass in neonatal swine.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and MetabolismKo, Tiffany S; Mavroudis, Constantine D; Baker, Wesley B; Morano, Vincent C; Mensah-Brown, Kobina; Boorady, Timothy W; Schmidt, Alexander L; Lynch, Jennifer M; Busch, David R; Gentile, Javier; Bratinov, George; Lin, Yuxi; Jeong, Sejin; Melchior, Richard W; Rosenthal, Tami M; Shade, Brandon C; Schiavo, Kellie L; Xiao, Rui; Gaynor, J William; Yodh, Arjun G; Kilbaugh, Todd J; Licht, Daniel JJanuary 2020Not Determined
30348077Create StudyLanguage delay aggregates in toddler siblings of children with autism spectrum disorder.Journal of neurodevelopmental disordersMarrus, N; Hall, L P; Paterson, S J; Elison, J T; Wolff, J J; Swanson, M R; Parish-Morris, J; Eggebrecht, A T; Pruett Jr, J R; Hazlett, H C; Zwaigenbaum, L; Dager, S; Estes, A M; Schultz, R T; Botteron, K N; Piven, J; Constantino, J N; IBIS NetworkOctober 2018Not Determined
30319709Create StudyTreatment Utilization by Adults with Autism and Co-Occurring Anxiety or Depression.Research in autism spectrum disordersMaddox, Brenna B; Kang-Yi, Christina D; Brodkin, Edward S; Mandell, David SJuly 2018Not Determined
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30167575Create StudyBuilding Language Resources for Exploring Autism Spectrum Disorders.LREC ... International Conference on Language Resources & Evaluation : [proceedings]. International Conference on Language Resources and EvaluationParish-Morris, Julia; Cieri, Christopher; Liberman, Mark; Bateman, Leila; Ferguson, Emily; Schultz, Robert TMay 1, 2016Not Determined
30137653Create StudyHeadache Characteristics in Children With Pseudotumor Cerebri Syndrome, Elevated Opening Pressure Without Papilledema, and Normal Opening Pressure: A Retrospective Cohort Study.HeadacheHamedani, Ali G; Witonsky, Kailyn F R; Cosico, Mahgenn; Rennie, Robert; Xiao, Riu; Sheldon, Claire A; Paley, Grace L; McCormack, Shana E; Liu, Geraldine W; Friedman, Deborah I; Liu, Grant T; Szperka, Christina LOctober 2018Not Determined
30077719Create StudyThe Long Noncoding RNA Landscape in Amygdala Tissues from Schizophrenia Patients.EBioMedicineTian, Tian; Wei, Zhi; Chang, Xiao; Liu, Yichuan; Gur, Raquel E; Sleiman, Patrick M A; Hakonarson, HakonAugust 1, 2018Not Determined
30068943Create StudyLinked dimensions of psychopathology and connectivity in functional brain networks.Nature communicationsXia, Cedric Huchuan; Ma, Zongming; Ciric, Rastko; Gu, Shi; Betzel, Richard F; Kaczkurkin, Antonia N; Calkins, Monica E; Cook, Philip A; García de la Garza, Angel; Vandekar, Simon N; Cui, Zaixu; Moore, Tyler M; Roalf, David R; Ruparel, Kosha; Wolf, Daniel H; Davatzikos, Christos; Gur, Ruben C; Gur, Raquel E; Shinohara, Russell T; Bassett, Danielle S; Satterthwaite, Theodore DAugust 2018Not Determined
30046662Create StudyExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.Neurology. GeneticsKing, Martin S; Thompson, Kyle; Hopton, Sila; He, Langping; Kunji, Edmund R S; Taylor, Robert W; Ortiz-Gonzalez, Xilma RAugust 1, 2018Not Determined
29997041Create StudyMitochondrial DNA associations with East Asian metabolic syndrome.Biochimica et biophysica acta. BioenergeticsChalkia, Dimitra; Chang, Yi-Cheng; Derbeneva, Olga; Lvova, Maria; Wang, Ping; Mishmar, Dan; Liu, Xiaogang; Singh, Larry N; Chuang, Lee-Ming; Wallace, Douglas CSeptember 2018Not Determined
29979882Create StudyLong-Term Effects from a School-Based Trial Comparing Interpersonal Psychotherapy-Adolescent Skills Training to Group Counseling.Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53Young, Jami F; Jones, Jason D; Sbrilli, Marissa D; Benas, Jessica S; Spiro, Carolyn N; Haimm, Caroline A; Gallop, Robert; Mufson, Laura; Gillham, Jane EJanuary 2019Not Determined
29959046Create StudyAge-specific gray and white matter DTI atlas for human brain at 33, 36 and 39 postmenstrual weeks.NeuroImageFeng, Lei; Li, Hang; Oishi, Kenichi; Mishra, Virendra; Song, Limei; Peng, Qinmu; Ouyang, Minhui; Wang, Jiaojian; Slinger, Michelle; Jeon, Tina; Lee, Lizette; Heyne, Roy; Chalak, Lina; Peng, Yun; Liu, Shuwei; Huang, HaoJanuary 2019Not Determined
29927623Create StudyModulating Glucose Metabolism and Lactate Synthesis in Injured Mouse Tendons: Treatment With Dichloroacetate, a Lactate Synthesis Inhibitor, Improves Tendon Healing.The American journal of sports medicineZhang, Kairui; Hast, Michael W; Izumi, Soutarou; Usami, Yu; Shetye, Snehal; Akabudike, Ngozi; Philp, Nancy J; Iwamoto, Masahiro; Nissim, Itzhak; Soslowsky, Louis J; Enomoto-Iwamoto, MotomiJuly 2018Not Determined
29917077Create StudyUSMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.Human molecular geneticsBarca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth; Juanola-Falgarona, Marti; Gai, Xiaowu; Li, Dong; Jalas, Chaim; Hirsch, Yoel; Emmanuele, Valentina; Tadesse, Saba; Ziosi, Marcello; Akman, Hasan O; Chung, Wendy K; Tanji, Kurenai; McCormick, Elizabeth M; Place, Emily; Consugar, Mark; Pierce, Eric A; Hakonarson, Hakon; Wallace, Douglas C; Hirano, Michio; Falk, Marni JOctober 2018Not Determined
29913282Create StudyStructural network maturation of the preterm human brain.NeuroImageZhao, Tengda; Mishra, Virendra; Jeon, Tina; Ouyang, Minhui; Peng, Qinmu; Chalak, Lina; Wisnowski, Jessica Lee; Heyne, Roy; Rollins, Nancy; Shu, Ni; Huang, HaoJanuary 2019Not Determined
29895892Create StudyLarge-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.Molecular psychiatrySun, Daqiang; Ching, Christopher R K; Lin, Amy; Forsyth, Jennifer K; Kushan, Leila; Vajdi, Ariana; Jalbrzikowski, Maria; Hansen, Laura; Villalon-Reina, Julio E; Qu, Xiaoping; Jonas, Rachel K; van Amelsvoort, Therese; Bakker, Geor; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; Campbell, Linda E; McCabe, Kathryn L; Daly, Eileen; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan; Craig, Michael; Vorstman, Jacob; Fiksinski, Ania; Koops, Sanne; Ruparel, Kosha; Roalf, David R; Gur, Raquel E; Schmitt, J Eric; Simon, Tony J; Goodrich-Hunsaker, Naomi J; Durdle, Courtney A; Bassett, Anne S; Chow, Eva W C; Butcher, Nancy J; Vila-Rodriguez, Fidel; Doherty, Joanne; Cunningham, Adam; van den Bree, Marianne B M; Linden, David E J; Moss, Hayley; Owen, Michael J; Murphy, Kieran C; McDonald-McGinn, Donna M; Emanuel, Beverly; van Erp, Theo G M; Turner, Jessica A; Thompson, Paul M; Bearden, Carrie EAugust 2020Not Determined
29884903Create StudyMutation-specific signaling profiles and kinase inhibitor sensitivities of juvenile myelomonocytic leukemia revealed by induced pluripotent stem cells.LeukemiaTasian, Sarah K; Casas, Jessica A; Posocco, David; Gandre-Babbe, Shilpa; Gagne, Alyssa L; Liang, Ge; Loh, Mignon L; Weiss, Mitchell J; French, Deborah L; Chou, Stella TJanuary 2019Not Determined
29859676Create StudyPreoperative cerebral hemodynamics from birth to surgery in neonates with critical congenital heart disease.The Journal of thoracic and cardiovascular surgeryLynch, Jennifer M; Ko, Tiffany; Busch, David R; Newland, John J; Winters, Madeline E; Mensah-Brown, Kobina; Boorady, Timothy W; Xiao, Rui; Nicolson, Susan C; Montenegro, Lisa M; Gaynor, J William; Spray, Thomas L; Yodh, Arjun G; Naim, Maryam Y; Licht, Daniel JOctober 2018Not Determined
29848492Create StudyLong genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domains.Genome researchZhao, Ying-Tao; Kwon, Deborah Y; Johnson, Brian S; Fasolino, Maria; Lamonica, Janine M; Kim, Yoon Jung; Zhao, Boxuan Simen; He, Chuan; Vahedi, Golnaz; Kim, Tae Hoon; Zhou, ZhaolanJuly 2018Not Determined
29771953Create StudyMitochondrial disease patient motivations and barriers to participate in clinical trials.PloS oneZolkipli-Cunningham, Zarazuela; Xiao, Rui; Stoddart, Amy; McCormick, Elizabeth M; Holberts, Amy; Burrill, Natalie; McCormack, Shana; Williams, Lauren; Wang, Xiaoyan; Thompson, John L P; Falk, Marni JJanuary 2018Not Determined
29763587Create StudyMice exposed to bisphenol A exhibit depressive-like behavior with neurotransmitter and neuroactive steroid dysfunction.Hormones and behaviorXin, Frances; Fischer, Erin; Krapp, Christopher; Krizman, Elizabeth N; Lan, Yemin; Mesaros, Clementina; Snyder, Nathaniel W; Bansal, Amita; Robinson, Michael B; Simmons, Rebecca A; Bartolomei, Marisa SJune 2018Not Determined
29759483Create StudyInduction of the Immunoproteasome Subunit Lmp7 Links Proteostasis and Immunity in α-Synuclein Aggregation Disorders.EBioMedicineUgras, Scott; Daniels, Malcolm J; Fazelinia, Hossein; Gould, Neal S; Yocum, Anastasia K; Luk, Kelvin C; Luna, Esteban; Ding, Hua; McKennan, Chris; Seeholzer, Steven; Martinez, Dan; Evans, Perry; Brown, Daniel; Duda, John E; Ischiropoulos, HarryMay 2018Not Determined
29754953Create StudyArginase 2 Suppresses Renal Carcinoma Progression via Biosynthetic Cofactor Pyridoxal Phosphate Depletion and Increased Polyamine Toxicity.Cell metabolismOchocki, Joshua D; Khare, Sanika; Hess, Markus; Ackerman, Daniel; Qiu, Bo; Daisak, Jennie I; Worth, Andrew J; Lin, Nan; Lee, Pearl; Xie, Hong; Li, Bo; Wubbenhorst, Bradley; Maguire, Tobi G; Nathanson, Katherine L; Alwine, James C; Blair, Ian A; Nissim, Itzhak; Keith, Brian; Simon, M CelesteJune 2018Not Determined
29662202Create StudyStimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive.Nature medicineYun, Sanghee; Reynolds, Ryan P; Petrof, Iraklis; White, Alicia; Rivera, Phillip D; Segev, Amir; Gibson, Adam D; Suarez, Maiko; DeSalle, Matthew J; Ito, Naoki; Mukherjee, Shibani; Richardson, Devon R; Kang, Catherine E; Ahrens-Nicklas, Rebecca C; Soler, Ivan; Chetkovich, Dane M; Kourrich, Saïd; Coulter, Douglas A; Eisch, Amelia JMay 2018Not Determined
29655938Create StudyDelineation of early brain development from fetuses to infants with diffusion MRI and beyond.NeuroImageOuyang, Minhui; Dubois, Jessica; Yu, Qinlin; Mukherjee, Pratik; Huang, HaoJanuary 2019Not Determined
29655171Create StudyAlterations of network synchrony after epileptic seizures: An analysis of post-ictal intracranial recordings in pediatric epilepsy patients.Epilepsy researchTomlinson SB, Khambhati AN, Bermudez C, Kamens RM, Heuer GG, Porter BE, Marsh EDJuly 2018Not Determined
29625234Create StudyBaby brain atlases.NeuroImageOishi, Kenichi; Chang, Linda; Huang, HaoJanuary 2019Not Determined
29622677Create StudyHeparan sulfate antagonism alters bone morphogenetic protein signaling and receptor dynamics, suggesting a mechanism in hereditary multiple exostoses.The Journal of biological chemistryMundy C, Yang E, Takano H, Billings PC, Pacifici MMay 2018Not Determined
29617515Create StudyDevelopment of White Matter Circuitry in Infants With Fragile X Syndrome.JAMA psychiatrySwanson, Meghan R; Wolff, Jason J; Shen, Mark D; Styner, Martin; Estes, Annette; Gerig, Guido; McKinstry, Robert C; Botteron, Kelly N; Piven, Joseph; Hazlett, Heather C; Infant Brain Imaging Study (IBIS) NetworkMay 1, 2018Not Determined
29560900Create StudySubcortical Brain and Behavior Phenotypes Differentiate Infants With Autism Versus Language Delay.Biological psychiatry. Cognitive neuroscience and neuroimagingSwanson, Meghan R; Shen, Mark D; Wolff, Jason J; Elison, Jed T; Emerson, Robert W; Styner, Martin A; Hazlett, Heather C; Truong, Kinh; Watson, Linda R; Paterson, Sarah; Marrus, Natasha; Botteron, Kelly N; Pandey, Juhi; Schultz, Robert T; Dager, Stephen R; Zwaigenbaum, Lonnie; Estes, Annette M; Piven, Joseph; IBIS NetworkNovember 2017Not Determined
29560315Create StudyMicrovascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine.Molecular genetics and metabolism reportsGanetzky RD, Falk MJJune 2018Not Determined
29526616Create StudyN-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease.Molecular genetics and metabolismPolyak, Erzsebet; Ostrovsky, Julian; Peng, Min; Dingley, Stephen D; Tsukikawa, Mai; Kwon, Young Joon; McCormack, Shana E; Bennett, Michael; Xiao, Rui; Seiler, Christoph; Zhang, Zhe; Falk, Marni JApril 2018Not Determined
29503202Create StudyOvercoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.Molecular therapy : the journal of the American Society of Gene TherapyChen, Yonghong; Zheng, Shujuan; Tecedor, Luis; Davidson, Beverly LApril 4, 2018Not Determined
29470464Create StudyGeneration of human brain region-specific organoids using a miniaturized spinning bioreactor.Nature protocolsQian, Xuyu; Jacob, Fadi; Song, Mingxi Max; Nguyen, Ha Nam; Song, Hongjun; Ming, Guo-LiMarch 1, 2018Not Determined
29452463Create StudyAutosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.The Journal of thoracic and cardiovascular surgeryKim, Daniel Seung; Li, Yatong K; Kim, Jerry H; Bergquist, Curtis S; Gerdes, Marsha; Bernbaum, Judy C; Burnham, Nancy; McDonald-McGinn, Donna M; Zackai, Elaine H; Nicolson, Susan C; Spray, Thomas L; Nickerson, Deborah A; Hakonarson, Hakon; Jarvik, Gail P; Gaynor, J WilliamMarch 2018Not Determined
29443794Create StudyStability of Early EEG Background Patterns After Pediatric Cardiac Arrest.Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyAbend NS, Xiao R, Kessler SK, Topjian AAMay 2018Not Determined
29438177Create StudyEEG Factors After Pediatric Cardiac Arrest.Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyAbend, Nicholas S; Wiebe, Douglas J; Xiao, Rui; Massey, Shavonne L; Fitzgerald, Mark; Fung, France; Topjian, Alexis AMay 2018Not Determined
29428506Create Study8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.Molecular genetics and metabolismGanetzky RD, Falk MJMarch 2018Not Determined
29423135Create StudyAltered reward system reactivity for personalized circumscribed interests in autism.Molecular autismKohls, Gregor; Antezana, Ligia; Mosner, Maya G; Schultz, Robert T; Yerys, Benjamin EJanuary 2018Not Determined
29420931Create StudySPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.NeuronSPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org; SPARK ConsortiumFebruary 7, 2018Not Determined
29398928Create StudyBrain and behavior development in autism from birth through infancy.Dialogues in clinical neuroscienceShen, Mark D; Piven, JosephDecember 2017Not Determined
29391398Create StudyNon-coding RNA dysregulation in the amygdala region of schizophrenia patients contributes to the pathogenesis of the disease.Translational psychiatryLiu, Yichuan; Chang, Xiao; Hahn, Chang-Gyu; Gur, Raquel E; Sleiman, Patrick A M; Hakonarson, HakonFebruary 2018Not Determined
29376397Create StudyAssociations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development.Autism : the international journal of research and practiceRubenstein, Eric; Wiggins, Lisa D; Schieve, Laura A; Bradley, Chyrise; DiGuiseppi, Carolyn; Moody, Eric; Pandey, Juhi; Pretzel, Rebecca Edmondson; Howard, Annie Green; Olshan, Andrew F; Pence, Brian W; Daniels, JulieFebruary 2019Not Determined
29376095Create StudyMassive cortical reorganization is reversible following bilateral transplants of the hands: evidence from the first successful bilateral pediatric hand transplant patient.Annals of clinical and translational neurologyGaetz, William; Kessler, Sudha K; Roberts, Tim P L; Berman, Jeffrey I; Levy, Todd J; Hsia, Michelle; Humpl, Deborah; Schwartz, Erin S; Amaral, Sandra; Chang, Ben; Levin, Lawrence ScottJanuary 2018Not Determined
29368955Create StudyTranslating Cognitive Vulnerability Theory Into Improved Adolescent Depression Screening: A Receiver Operating Characteristic Approach.Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53Cohen, Joseph R; So, Felix K; Hankin, Benjamin L; Young, Jami FJanuary 2019Not Determined
29350456Create StudyA prospective study of family predictors of health-related quality of life in pediatric brain tumor survivors.Pediatric blood & cancerQuast, Lauren F; Phillips, Peter C; Li, Yimei; Kazak, Anne E; Barakat, Lamia P; Hocking, Matthew CJune 2018Not Determined
29348408Create StudyNIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Scientific reportsMills, Jason A; Herrera, Pamela S; Kaur, Maninder; Leo, Lanfranco; McEldrew, Deborah; Tintos-Hernandez, Jesus A; Rajagopalan, Ramakrishnan; Gagne, Alyssa; Zhang, Zhe; Ortiz-Gonzalez, Xilma R; Krantz, Ian DJanuary 18, 2018Not Determined
29348040Create StudyNegative Valence in Autism Spectrum Disorder: The Relationship Between Amygdala Activity, Selective Attention, and Co-occurring Anxiety.Biological psychiatry. Cognitive neuroscience and neuroimagingHerrington JD, Maddox BB, Mcvey AJ, Franklin ME, Yerys BE, Miller JS, Schultz RTSeptember 2017Not Determined
29341497Create StudyDefining behavioral components of social functioning in adults with autism spectrum disorder as targets for treatment.Autism research : official journal of the International Society for Autism ResearchPallathra, Ashley A; Calkins, Monica E; Parish-Morris, Julia; Maddox, Brenna B; Perez, Leat S; Miller, Judith; Gur, Ruben C; Mandell, David S; Schultz, Robert T; Brodkin, Edward SMarch 2018Not Determined
29339723Create StudyFasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling.Nature communicationsElia, Josephine; Ungal, Grace; Kao, Charlly; Ambrosini, Alexander; De Jesus-Rosario, Nilsa; Larsen, Lene; Chiavacci, Rosetta; Wang, Tiancheng; Kurian, Christine; Titchen, Kanani; Sykes, Brian; Hwang, Sharon; Kumar, Bhumi; Potts, Jacqueline; Davis, Joshua; Malatack, Jeffrey; Slattery, Emma; Moorthy, Ganesh; Zuppa, Athena; Weller, Andrew; Byrne, Enda; Li, Yun R; Kraft, Walter K; Hakonarson, HakonJanuary 2018Not Determined
29339533Create StudyLearning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism.Science signalingKoberstein, John N; Poplawski, Shane G; Wimmer, Mathieu E; Porcari, Giulia; Kao, Charlly; Gomes, Bruce; Risso, Davide; Hakonarson, Hakon; Zhang, Nancy R; Schultz, Robert T; Abel, Ted; Peixoto, LuciaJanuary 2018Not Determined
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29161229Create StudySex- and Dose-Specific Effects of Maternal Bisphenol A Exposure on Pancreatic Islets of First- and Second-Generation Adult Mice Offspring.Environmental health perspectivesBansal, Amita; Rashid, Cetewayo; Xin, Frances; Li, Changhong; Polyak, Erzsebet; Duemler, Anna; van der Meer, Tom; Stefaniak, Martha; Wajid, Sana; Doliba, Nicolai; Bartolomei, Marisa S; Simmons, Rebecca ASeptember 2017Not Determined
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29038598Create StudyMale-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders.Molecular psychiatryGrissom, N M; McKee, S E; Schoch, H; Bowman, N; Havekes, R; O'Brien, W T; Mahrt, E; Siegel, S; Commons, K; Portfors, C; Nickl-Jockschat, T; Reyes, T M; Abel, TMarch 2018Not Determined
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28976608Create StudyCerebrovascular response to maternal hyperoxygenation in fetuses with hypoplastic left heart syndrome depends on gestational age and baseline cerebrovascular resistance.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySzwast, A; Putt, M; Gaynor, J W; Licht, D J; Rychik, JOctober 2018Not Determined
28971012Create StudyNeuromagnetic responses to tactile stimulation of the fingers: Evidence for reduced cortical inhibition for children with Autism Spectrum Disorder and children with epilepsy.NeuroImage. ClinicalGaetz, William; Jurkiewicz, Michael T; Kessler, Sudha Kilaru; Blaskey, Lisa; Schwartz, Erin S; Roberts, Timothy P LJanuary 2017Not Determined
28931307Create StudyAutism spectrum disorder screening with the CBCL/1½-5: Findings for young children at high risk for autism spectrum disorder.Autism : the international journal of research and practiceRescorla, Leslie A; Winder-Patel, Breanna M; Paterson, Sarah J; Pandey, Juhi; Wolff, Jason J; Schultz, Robert T; Piven, JosephJanuary 2019Not Determined
28920956Create StudyBiotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.Nature medicineJohnson, Brian S; Zhao, Ying-Tao; Fasolino, Maria; Lamonica, Janine M; Kim, Yoon Jung; Georgakilas, George; Wood, Kathleen H; Bu, Daniel; Cui, Yue; Goffin, Darren; Vahedi, Golnaz; Kim, Tae Hoon; Zhou, ZhaolanOctober 2017Not Determined
28865345Create StudyWhite matter microstructural deficits in 22q11.2 deletion syndrome.Psychiatry research. NeuroimagingRoalf, David R; Eric Schmitt, J; Vandekar, Simon N; Satterthwaite, Theodore D; Shinohara, Russell T; Ruparel, Kosha; Elliott, Mark A; Prabhakaran, Karthik; McDonald-McGinn, Donna M; Zackai, Elaine H; Gur, Ruben C; Emanuel, Beverly S; Gur, Raquel EOctober 2017Not Determined
28844789Create StudyProtocadherin 10 alters γ oscillations, amino acid levels, and their coupling; baclofen partially restores these oscillatory deficits.Neurobiology of diseasePort, Russell G; Gajewski, Christopher; Krizman, Elizabeth; Dow, Holly C; Hirano, Shinji; Brodkin, Edward S; Carlson, Gregory C; Robinson, Michael B; Roberts, Timothy P L; Siegel, Steven JDecember 2017Not Determined
28844152Create StudyLagging skills contribute to challenging behaviors in children with autism spectrum disorder without intellectual disability.Autism : the international journal of research and practiceMaddox, Brenna B; Cleary, Patrick; Kuschner, Emily S; Miller, Judith S; Armour, Anna Chelsea; Guy, Lisa; Kenworthy, Lauren; Schultz, Robert T; Yerys, Benjamin ENovember 2018Not Determined
28832883Create StudyAssociation Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.JAMA psychiatryChalkia, Dimitra; Singh, Larry N; Leipzig, Jeremy; Lvova, Maria; Derbeneva, Olga; Lakatos, Anita; Hadley, Dexter; Hakonarson, Hakon; Wallace, Douglas CNovember 2017Not Determined
28826946Create StudyHarmonization of multi-site diffusion tensor imaging data.NeuroImageFortin, Jean-Philippe; Parker, Drew; Tunç, Birkan; Watanabe, Takanori; Elliott, Mark A; Ruparel, Kosha; Roalf, David R; Satterthwaite, Theodore D; Gur, Ruben C; Gur, Raquel E; Schultz, Robert T; Verma, Ragini; Shinohara, Russell TNovember 2017Not Determined
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28812047Create StudySelected missense mutations impair frataxin processing in Friedreich ataxia.Annals of clinical and translational neurologyClark E, Butler JS, Isaacs CJ, Napierala M, Lynch DRAugust 2017Not Determined
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28771710Create StudyBrain endothelial cells induce astrocytic expression of the glutamate transporter GLT-1 by a Notch-dependent mechanism.Journal of neurochemistryLee, Meredith L; Martinez-Lozada, Zila; Krizman, Elizabeth N; Robinson, Michael BDecember 2017Not Determined
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28739513Create StudyIntrauterine inflammation induces sex-specific effects on neuroinflammation, white matter, and behavior.Brain, behavior, and immunityMakinson R, Lloyd K, Rayasam A, Mckee S, Brown A, Barila G, Grissom N, George R, Marini M, Fabry Z, Elovitz M, Reyes TMNovember 2017Not Determined
28733303Create StudyOral glucocorticoid use and osteonecrosis in children and adults with chronic inflammatory diseases: a population-based cohort study.BMJ openHorton, Daniel B; Haynes, Kevin; Denburg, Michelle R; Thacker, Mihir M; Rose, Carlos D; Putt, Mary E; Leonard, Mary B; Strom, Brian LJuly 2017Not Relevant
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28689249Create StudyCaregiver perspectives on the social competence of pediatric brain tumor survivors.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in CancerHocking MC, Quast LF, Brodsky C, Deatrick JADecember 2017Not Determined
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28634707Create StudyParent Support of Preschool Peer Relationships in Younger Siblings of Children with Autism Spectrum Disorder.Journal of autism and developmental disordersEstes, Annette; Munson, Jeffrey; John, Tanya St; Dager, Stephen R; Rodda, Amy; Botteron, Kelly; Hazlett, Heather; Schultz, Robert T; Zwaigenbaum, Lonnie; Piven, Joseph; Guralnick, Michael J; IBIS networkApril 2018Not Determined
28634624Create StudyPopulation-averaged macaque brain atlas with high-resolution ex vivo DTI integrated into in vivo space.Brain structure & functionFeng, Lei; Jeon, Tina; Yu, Qiaowen; Ouyang, Minhui; Peng, Qinmu; Mishra, Virendra; Pletikos, Mihovil; Sestan, Nenad; Miller, Michael I; Mori, Susumu; Hsiao, Steven; Liu, Shuwei; Huang, HaoDecember 1, 2017Not Relevant
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28522732Create StudyUnbiased Proteomics of Early Lewy Body Formation Model Implicates Active Microtubule Affinity-Regulating Kinases (MARKs) in Synucleinopathies.The Journal of neuroscience : the official journal of the Society for NeuroscienceHenderson, Michael X; Chung, Charlotte Hiu-Yan; Riddle, Dawn M; Zhang, Bin; Gathagan, Ronald J; Seeholzer, Steven H; Trojanowski, John Q; Lee, Virginia M YJune 2017Not Determined
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28502727Create StudyConcordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.The Journal of molecular diagnostics : JMDRasmussen-Torvik, Laura J; Almoguera, Berta; Doheny, Kimberly F; Freimuth, Robert R; Gordon, Adam S; Hakonarson, Hakon; Hawkins, Jared B; Husami, Ammar; Ivacic, Lynn C; Kullo, Iftikhar J; Linderman, Michael D; Manolio, Teri A; Obeng, Aniwaa Owusu; Pellegrino, Renata; Prows, Cynthia A; Ritchie, Marylyn D; Smith, Maureen E; Stallings, Sarah C; Wolf, Wendy A; Zhang, Kejian; Scott, Stuart AJuly 2017Not Determined
28496398Create StudyGrowth of Thalamocortical Fibers to the Somatosensory Cortex in the Human Fetal Brain.Frontiers in neuroscienceKrsnik, Željka; Majić, Visnja; Vasung, Lana; Huang, Hao; Kostović, Ivica2017Not Relevant
28460842Create StudyThe Emergence of Network Inefficiencies in Infants With Autism Spectrum Disorder.Biological psychiatryLewis, John D; Evans, Alan C; Pruett Jr, John R; Botteron, Kelly N; McKinstry, Robert C; Zwaigenbaum, Lonnie; Estes, Annette M; Collins, D Louis; Kostopoulos, Penelope; Gerig, Guido; Dager, Stephen R; Paterson, Sarah; Schultz, Robert T; Styner, Martin A; Hazlett, Heather C; Piven, Joseph; Infant Brain Imaging Study NetworkAugust 1, 2017Relevant
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28442181Create StudyHospitalizations for mitochondrial disease across the lifespan in the U.S.Molecular genetics and metabolismMcCormack, Shana E; Xiao, Rui; Kilbaugh, Todd J; Karlsson, Michael; Ganetzky, Rebecca D; Cunningham, Zarazuela Zolkipli; Goldstein, Amy; Falk, Marni J; Damrauer, Scott MJune 2017Not Relevant
28433741Create StudyLoss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.Neurobiology of diseaseTischfield, David J; Saraswat, Dave K; Furash, Andrew; Fowler, Stephen C; Fuccillo, Marc V; Anderson, Stewart AJuly 2017Not Relevant
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28395153Create StudyAuditory morphological processing: Evidence from phonological priming.CognitionBacovcin, Hezekiah Akiva; Goodwin Davies, Amy; Wilder, Robert J; Embick, DavidJuly 2017Relevant
28392604Create StudyParent-Teacher Communication about Children with Autism Spectrum Disorder: An Examination of Collaborative Problem-Solving.Psychology in the schoolsAzad, Gazi F; Kim, Mina; Marcus, Steven C; Mandell, David S; Sheridan, Susan MDecember 2016Not Determined
28392081Create StudyIncreased Extra-axial Cerebrospinal Fluid in High-Risk Infants Who Later Develop Autism.Biological psychiatryShen, Mark D; Kim, Sun Hyung; McKinstry, Robert C; Gu, Hongbin; Hazlett, Heather C; Nordahl, Christine W; Emerson, Robert W; Shaw, Dennis; Elison, Jed T; Swanson, Meghan R; Fonov, Vladimir S; Gerig, Guido; Dager, Stephen R; Botteron, Kelly N; Paterson, Sarah; Schultz, Robert T; Evans, Alan C; Estes, Annette M; Zwaigenbaum, Lonnie; Styner, Martin A; Amaral, David G; Piven, J; Hazlett, H C; Chappell, C; Dager, S; Estes, A; Shaw, D; Botteron, K; McKinstry, R; Constantino, J; Pruett, J; Schultz, R; Zwaigenbaum, L; Elison, J; Evans, A C; Collins, D L; Pike, G B; Fonov, V; Kostopoulos, P; Das, S; Gerig, G; Styner, M; Gu, H; Piven, Joseph; Infant Brain Imaging Study NetworkAugust 1, 2017Relevant
28374599Create StudyLongitudinal study of driver licensing rates among adolescents and young adults with autism spectrum disorder.Autism : the international journal of research and practiceCurry, Allison E; Yerys, Benjamin E; Huang, Patty; Metzger, Kristi BMay 1, 2018Relevant
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27040691Create StudyMutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.American journal of human geneticsBhoj, Elizabeth J; Li, Dong; Harr, Margaret; Edvardson, Shimon; Elpeleg, Orly; Chisholm, Elizabeth; Juusola, Jane; Douglas, Ganka; Guillen Sacoto, Maria J; Siquier-Pernet, Karine; Saadi, Abdelkrim; Bole-Feysot, Christine; Nitschke, Patrick; Narravula, Alekhya; Walke, Maria; Horner, Michele B; Day-Salvatore, Debra-Lynn; Jayakar, Parul; Vergano, Samantha A Schrier; Tarnopolsky, Mark A; Hegde, Madhuri; Colleaux, Laurence; Crino, Peter; Hakonarson, HakonApril 2016Not Determined
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26982085Create StudyStructural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms.JAMA psychiatrySatterthwaite, Theodore D; Wolf, Daniel H; Calkins, Monica E; Vandekar, Simon N; Erus, Guray; Ruparel, Kosha; Roalf, David R; Linn, Kristin A; Elliott, Mark A; Moore, Tyler M; Hakonarson, Hakon; Shinohara, Russell T; Davatzikos, Christos; Gur, Ruben C; Gur, Raquel EMay 2016Not Determined
26964483Create StudyTracking inflammation in the epileptic rat brain by bi-functional fluorescent and magnetic nanoparticles.Nanomedicine : nanotechnology, biology, and medicinePortnoy, Emma; Polyak, Boris; Inbar, Dorrit; Kenan, Gilad; Rai, Ahmad; Wehrli, Suzanne L; Roberts, Timothy P L; Bishara, Ameer; Mann, Aniv; Shmuel, Miriam; Rozovsky, Katya; Itzhak, Gal; Ben-Hur, Tamir; Magdassi, Shlomo; Ekstein, Dana; Eyal, SaraJuly 2016Not Determined
26950678Create StudyA novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.RNA biologyFalk, Marni J; Gai, Xiaowu; Shigematsu, Megumi; Vilardo, Elisa; Takase, Ryuichi; McCormick, Elizabeth; Christian, Thomas; Place, Emily; Pierce, Eric A; Consugar, Mark; Gamper, Howard B; Rossmanith, Walter; Hou, Ya-MingMay 2016Not Determined
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26941605Create StudyD-Serine and Serine Racemase Are Associated with PSD-95 and Glutamatergic Synapse Stability.Frontiers in cellular neuroscienceLin H, Jacobi AA, Anderson SA, Lynch DRJanuary 2016Not Determined
26941380Create StudyEarly Development of Functional Network Segregation Revealed by Connectomic Analysis of the Preterm Human Brain.Cerebral cortex (New York, N.Y. : 1991)Cao, Miao; He, Yong; Dai, Zhengjia; Liao, Xuhong; Jeon, Tina; Ouyang, Minhui; Chalak, Lina; Bi, Yanchao; Rollins, Nancy; Dong, Qi; Huang, HaoMarch 2017Not Determined
26927579Create StudyIndependent Contractors in Public Mental Health Clinics: Implications for Use of Evidence-Based Practices.Psychiatric services (Washington, D.C.)Beidas, Rinad S; Stewart, Rebecca E; Benjamin Wolk, Courtney; Adams, Danielle R; Marcus, Steven C; Evans Jr, Arthur C; Jackson, Kamilah; Neimark, Geoffrey; Hurford, Matthew O; Erney, Joan; Rubin, Ronnie; Hadley, Trevor R; Barg, Frances K; Mandell, David SJuly 2016Not Determined
26910290Create StudyMitochondrial Replacement Techniques--Implications for the Clinical Community.The New England journal of medicineFalk, Marni J; Decherney, Alan; Kahn, Jeffrey PMarch 2016Not Determined
26891991Create StudyMulticenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.Annals of neurologyWillcocks, Rebecca J; Rooney, William D; Triplett, William T; Forbes, Sean C; Lott, Donovan J; Senesac, Claudia R; Daniels, Michael J; Wang, Dah-Jyuu; Harrington, Ann T; Tennekoon, Gihan I; Russman, Barry S; Finanger, Erika L; Byrne, Barry J; Finkel, Richard S; Walter, Glenn A; Sweeney, H Lee; Vandenborne, KristaApril 2016Not Determined
26873854Create StudyNeuronal Activity-Induced Sterol Regulatory Element Binding Protein-1 (SREBP1) is Disrupted in Dysbindin-Null Mice-Potential Link to Cognitive Impairment in Schizophrenia.Molecular neurobiologyChen, Yong; Bang, Sookhee; McMullen, Mary F; Kazi, Hala; Talbot, Konrad; Ho, Mei-Xuan; Carlson, Greg; Arnold, Steven E; Ong, Wei-Yi; Kim, Sangwon FApril 2017Not Determined
26872957Create StudyExamining Effectiveness of Group Cognitive-Behavioral Therapy for Externalizing and Internalizing Disorders in Urban Schools.Behavior modificationEiraldi, Ricardo; Power, Thomas J; Schwartz, Billie S; Keiffer, Jackie N; McCurdy, Barry L; Mathen, Manju; Jawad, Abbas FJuly 2016Not Determined
26869473Create StudyRelationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers.AJNR. American journal of neuroradiologyBerman, J I; Chudnovskaya, D; Blaskey, L; Kuschner, E; Mukherjee, P; Buckner, R; Nagarajan, S; Chung, W K; Sherr, E H; Roberts, T P LJune 2016Not Determined
26865425Create StudyAnxiety and social deficits have distinct relationships with amygdala function in autism spectrum disorder.Social cognitive and affective neuroscienceHerrington, John D; Miller, Judith S; Pandey, Juhi; Schultz, Robert TJune 2016Not Determined
26862477Create StudyLanguage comprehension and brain function in individuals with an optimal outcome from autism.NeuroImage. ClinicalEigsti IM, Stevens MC, Schultz RT, Barton M, Kelley E, Naigles L, Orinstein A, Troyb E, Fein DAJanuary 2016Not Determined
26855417Create StudyThe circadian gene Rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress.Free radical biology & medicineSengupta, Shaon; Yang, Guang; O'Donnell, John C; Hinson, Maurice D; McCormack, Shana E; Falk, Marni J; La, Ping; Robinson, Michael B; Williams, Monica L; Yohannes, Mekdes T; Polyak, Erzsebet; Nakamaru-Ogiso, Eiko; Dennery, Phyllis AApril 2016Not Determined
26813311Create StudyDetection of Free and Protein-Bound ortho-Quinones by Near-Infrared Fluorescence.Analytical chemistryMazzulli JR, Burbulla LF, Krainc D, Ischiropoulos HFebruary 2016Not Determined
26806874Create StudyCommon and Dissociable Mechanisms of Executive System Dysfunction Across Psychiatric Disorders in Youth.The American journal of psychiatryShanmugan, Sheila; Wolf, Daniel H; Calkins, Monica E; Moore, Tyler M; Ruparel, Kosha; Hopson, Ryan D; Vandekar, Simon N; Roalf, David R; Elliott, Mark A; Jackson, Chad; Gennatas, Efstathios D; Leibenluft, Ellen; Pine, Daniel S; Shinohara, Russell T; Hakonarson, Hakon; Gur, Ruben C; Gur, Raquel E; Satterthwaite, Theodore DMay 2016Not Determined
26781481Create StudyThe Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.Scientific reportsWenger, Tara L; Kao, Charlly; McDonald-McGinn, Donna M; Zackai, Elaine H; Bailey, Alice; Schultz, Robert T; Morrow, Bernice E; Emanuel, Beverly S; Hakonarson, HakonJanuary 2016Not Determined
26776200Create StudyBIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.Pacific Symposium on Biocomputing. Pacific Symposium on BiocomputingKim, Dokyoon; Lucas, Anastasia; Glessner, Joseph; Verma, Shefali S; Bradford, Yuki; Li, Ruowang; Frase, Alex T; Hakonarson, Hakon; Peissig, Peggy; Brilliant, Murray; Ritchie, Marylyn DJanuary 2016Not Determined
26747212Create StudyDynamic structural flexibility of α-synuclein.Neurobiology of diseaseMor DE, Ugras SE, Daniels MJ, Ischiropoulos HApril 2016Not Determined
26742502Create StudyRare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.Human geneticsMlynarski, Elisabeth E; Xie, Michael; Taylor, Deanne; Sheridan, Molly B; Guo, Tingwei; Racedo, Silvia E; McDonald-McGinn, Donna M; Chow, Eva W C; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, Małgorzata; Bearden, Carrie E; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Goldmuntz, Elizabeth; Bassett, Anne S; Morrow, Bernice E; Emanuel, Beverly S; International Chromosome 22q11.2 ConsortiumMarch 2016Not Determined
26730806Create StudyTranslating Adult Electrophysiology Findings to Younger Patient Populations: Difficulty Measuring 40-Hz Auditory Steady-State Responses in Typically Developing Children and Children with Autism Spectrum Disorder.Developmental neuroscienceEdgar, J Christopher; Fisk 4th, Charles L; Liu, Song; Pandey, Juhi; Herrington, John D; Schultz, Robert T; Roberts, Timothy P LJanuary 2016Not Determined
26721794Create StudyAltered resonance properties of somatosensory responses in mice deficient for the schizophrenia risk gene Neuregulin 1.Brain structure & functionBarz, Claudia S; Bessaih, Thomas; Abel, Ted; Feldmeyer, Dirk; Contreras, DiegoDecember 2016Not Determined
26704054Create StudyBurden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.The Journal of thoracic and cardiovascular surgeryKim, Daniel Seung; Kim, Jerry H; Burt, Amber A; Crosslin, David R; Burnham, Nancy; Kim, Cecilia E; McDonald-McGinn, Donna M; Zackai, Elaine H; Nicolson, Susan C; Spray, Thomas L; Stanaway, Ian B; Nickerson, Deborah A; Heagerty, Patrick J; Hakonarson, Hakon; Gaynor, J William; Jarvik, Gail PApril 2016Not Determined
26674972Create StudyOn characterizing population commonalities and subject variations in brain networks.Medical image analysisGhanbari, Yasser; Bloy, Luke; Tunc, Birkan; Shankar, Varsha; Roberts, Timothy P L; Edgar, J Christopher; Schultz, Robert T; Verma, RaginiMay 2017Not Determined
26671984Create StudyNeuropathological Characteristics of Brachial Plexus Avulsion Injury With and Without Concomitant Spinal Cord Injury.Journal of neuropathology and experimental neurologyAli, Zarina S; Johnson, Victoria E; Stewart, William; Zager, Eric L; Xiao, Rui; Heuer, Gregory G; Weber, Maura T; Mallela, Arka N; Smith, Douglas HJanuary 2016Not Determined
26663516Create StudyAtypical age-dependent effects of autism on white matter microstructure in children of 2-7 years.Human brain mappingOuyang, Minhui; Cheng, Hua; Mishra, Virendra; Gong, Gaolang; Mosconi, Matthew W; Sweeney, John; Peng, Yun; Huang, HaoFebruary 2016Not Determined
26658692Create StudyA Multi-Level Examination of Stakeholder Perspectives of Implementation of Evidence-Based Practices in a Large Urban Publicly-Funded Mental Health System.Administration and policy in mental healthBeidas, Rinad S; Stewart, Rebecca E; Adams, Danielle R; Fernandez, Tara; Lustbader, Susanna; Powell, Byron J; Aarons, Gregory A; Hoagwood, Kimberly E; Evans, Arthur C; Hurford, Matthew O; Rubin, Ronnie; Hadley, Trevor; Mandell, David S; Barg, Frances KNovember 2016Not Determined
26614401Create StudyAssessing early implementation of state autism insurance mandates.Autism : the international journal of research and practiceBaller, Julia Berlin; Barry, Colleen L; Shea, Kathleen; Walker, Megan M; Ouellette, Rachel; Mandell, David SOctober 2016Not Determined
26607381Create StudyTargeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.Cell stem cellGiani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, Weiss MJ, Zon LI, Chou ST, French DL, Musunuru K, Sankaran VGJanuary 2016Not Determined
26597322Create StudyIn vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.Molecular genetics and metabolismOpladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GFJanuary 2016Not Determined
26586556Create StudySocial-Emotional Inhibition of Return in Children with Autism Spectrum Disorder Versus Typical Development.Journal of autism and developmental disordersAntezana L, Mosner MG, Troiani V, Yerys BEApril 2016Not Determined
26573769Create StudyPsychiatric gene discoveries shape evidence on ADHD''s biology.Molecular psychiatryThapar, A; Martin, J; Mick, E; Arias Vásquez, A; Langley, K; Scherer, S W; Schachar, R; Crosbie, J; Williams, N; Franke, B; Elia, J; Glessner, J; Hakonarson, H; Owen, M J; Faraone, S V; O'Donovan, M C; Holmans, PSeptember 2016Not Determined
26558789Create StudyReciprocal Regulation of Mitochondrial Dynamics and Calcium Signaling in Astrocyte Processes.The Journal of neuroscience : the official journal of the Society for NeuroscienceJackson, Joshua G; Robinson, Michael BNovember 2015Not Determined
26485579Create StudyThe transcription factor Pax6 contributes to the induction of GLT-1 expression in astrocytes through an interaction with a distal enhancer element.Journal of neurochemistryGhosh M, Lane M, Krizman E, Sattler R, Rothstein JD, Robinson MBJanuary 2016Not Determined
26469251Create StudyAltered Oligodendrocyte Maturation and Myelin Maintenance: The Role of Antiretrovirals in HIV-Associated Neurocognitive Disorders.Journal of neuropathology and experimental neurologyJensen, Brigid K; Monnerie, Hubert; Mannell, Maggie V; Gannon, Patrick J; Espinoza, Cagla Akay; Erickson, Michelle A; Bruce-Keller, Annadora J; Gelman, Benjamin B; Briand, Lisa A; Pierce, R Christopher; Jordan-Sciutto, Kelly L; Grinspan, Judith BNovember 2015Not Determined
26414896Create StudyCerebral Blood Flow Response to Hypercapnia in Children with Obstructive Sleep Apnea Syndrome.SleepBusch DR, Lynch JM, Winters ME, Mccarthy AL, Newland JJ, Ko T, Cornaglia MA, Radcliffe J, Mcdonough JM, Samuel J, Matthews E, Xiao R, Yodh AG, Marcus CL, Licht DJ, Tapia IEJanuary 2016Not Determined
26405055Create StudyStructural Development of Human Fetal and Preterm Brain Cortical Plate Based on Population-Averaged Templates.Cerebral cortex (New York, N.Y. : 1991)Yu Q, Ouyang A, Chalak L, Jeon T, Chia J, Mishra V, Sivarajan M, Jackson G, Rollins N, Liu S, Huang HOctober 2016Not Determined
26385796Create StudyReplication and Comparison of the Newly Proposed ADOS-2, Module 4 Algorithm in ASD Without ID: A Multi-site Study.Journal of autism and developmental disordersPugliese, Cara E; Kenworthy, Lauren; Bal, Vanessa Hus; Wallace, Gregory L; Yerys, Benjamin E; Maddox, Brenna B; White, Susan W; Popal, Haroon; Armour, Anna Chelsea; Miller, Judith; Herrington, John D; Schultz, Robert T; Martin, Alex; Anthony, Laura GutermuthDecember 2015Not Determined
26354342Create StudyClinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1.Molecular therapy : the journal of the American Society of Gene TherapyYoon, Sea Young; Bagel, Jessica H; O'Donnell, Patricia A; Vite, Charles H; Wolfe, John HFebruary 1, 2016Not Determined
26278232Create StudySchool-Based Behavioral Health Service Use and Expenditures for Children With Autism and Children With Other Disorders.Psychiatric services (Washington, D.C.)Kang-Yi CD, Locke J, Marcus SC, Hadley TR, Mandell DSJanuary 2016Not Determined
26179469Create StudyA Prospective Examination of Clinician and Supervisor Turnover Within the Context of Implementation of Evidence-Based Practices in a Publicly-Funded Mental Health System.Administration and policy in mental healthBeidas, Rinad S; Marcus, Steven; Wolk, Courtney Benjamin; Powell, Byron; Aarons, Gregory A; Evans, Arthur C; Hurford, Matthew O; Hadley, Trevor; Adams, Danielle R; Walsh, Lucia M; Babbar, Shaili; Barg, Frances; Mandell, David SSeptember 2016Not Determined
26111080Create StudyExpanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.American journal of medical genetics. Part ABhoj, Elizabeth J; Li, Dong; Harr, Margaret H; Tian, Lifeng; Wang, Tiancheng; Zhao, Yan; Qiu, Haijun; Kim, Cecilia; Hoffman, Jodi D; Hakonarson, Hakon; Zackai, Elaine HNovember 2015Not Determined
26069200Create StudyConcerns of parents and teachers of children with autism in elementary school.Autism : the international journal of research and practiceAzad G, Mandell DSMay 2016Not Determined
26033240Create StudyConnectome-wide network analysis of youth with Psychosis-Spectrum symptoms.Molecular psychiatrySatterthwaite TD, Vandekar SN, Wolf DH, Bassett DS, Ruparel K, Shehzad Z, Craddock RC, Shinohara RT, Moore TM, Gennatas ED, Jackson C, Roalf DR, Milham MP, Calkins ME, Hakonarson H, Gur RC, Gur REDecember 2015Not Determined
25911092Create StudyChild characteristics associated with outcome for children with autism in a school-based behavioral intervention.Autism : the international journal of research and practicePellecchia M, Connell JE, Kerns CM, Xie M, Marcus SC, Mandell DSApril 2016Not Determined
25858255Create StudyThe Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.Journal of child psychology and psychiatry, and allied disciplinesCalkins ME, Merikangas KR, Moore TM, Burstein M, Behr MA, Satterthwaite TD, Ruparel K, Wolf DH, Roalf DR, Mentch FD, Qiu H, Chiavacci R, Connolly JJ, Sleiman PM, Gur RC, Hakonarson H, Gur REDecember 2015Not Determined
25840117Create StudyThe Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.NeuroImageSatterthwaite, Theodore D; Connolly, John J; Ruparel, Kosha; Calkins, Monica E; Jackson, Chad; Elliott, Mark A; Roalf, David R; Hopson, Ryan; Prabhakaran, Karthik; Behr, Meckenzie; Qiu, Haijun; Mentch, Frank D; Chiavacci, Rosetta; Sleiman, Patrick M A; Gur, Ruben C; Hakonarson, Hakon; Gur, Raquel EJanuary 2016Not Determined
25678630Create StudyAuditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.Cerebral cortex (New York, N.Y. : 1991)Jenkins J, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TPMay 2016Not Determined
25630922Create StudyA Doxycycline-Inducible System for Genetic Correction of iPSC Disease Models.Methods in molecular biology (Clifton, N.J.)Sim, Xiuli; Cardenas-Diaz, Fabian L; French, Deborah L; Gadue, PaulJanuary 1, 2016Not Determined
25515311Create StudySensory encoding in Neuregulin 1 mutants.Brain structure & functionBarz CS, Bessaih T, Abel T, Feldmeyer D, Contreras DMarch 2016Not Determined
helpcenter.collection.publications-tab

NDA Help Center

Collection - Publications

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

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

Frequently Asked Questions

  • How can I determine if a publication is relevant?
    Publications are considered relevant to a collection when the data shared is directly related to the project or collection.
  • Where does the NDA get the publications?
    PubMed, an online library containing journals, articles, and medical research. Sponsored by NiH and National Library of Medicine (NLM).

Glossary

  • Create Study
    A link to the Create an NDA Study page that can be clicked to start creating an NDA Study with information such as the title, journal and authors automatically populated.
  • Not Determined Publication
    Indicates that the publication has not yet been reviewed and/or marked as Relevant or Not Relevant so it has not been determined whether an NDA Study is expected.
  • Not Relevant Publication
    A publication that is not based on data related to the aims of the grant/project associated with the Collection or not based on any data such as a review article and, therefore, an NDA Study is not expected to be created.
  • PubMed
    PubMed provides citation information for biomedical and life sciences publications and is managed by the U.S. National Institutes of Health's National Library of Medicine.
  • PubMed ID
    The PUBMed ID is the unique ID number for the publication as recorded in the PubMed database.
  • Relevant Publication
    A publication that is based on data related to the aims of the grant/project associated with the Collection and, therefore, an NDA Study is expected to be created.
Data Expected List: Mandatory Data Structures

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

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

Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Research Subject and Pedigree info icon
4101/15/2018
57
Approved
To create your project's Data Expected list, use the "+New Data Expected" to add or request existing structures and to request new Data Structures that are not in the NDA Data Dictionary.

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

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

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

Please visit the Completing Your Data Expected Tutorial for more information.
Data Expected List: Data Structures per Research Aims

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

Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Leiter International Performance Scale-Revised (Leiter-R) info icon
5501/15/2018
55
Approved
ADOS info icon
4701/15/2018
47
Approved
Peabody Picture Vocabulary Test, Fourth Edition info icon
4101/15/2018
57
Approved
Structure not yet defined
No Status history for this Data Expected has been recorded yet
helpcenter.collection.data-expected-tab

NDA Help Center

Collection - Data Expected

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

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

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

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

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

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

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

Frequently Asked Questions

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

Glossary

  • Analyzed Data
    Data specific to the primary aims of the research being conducted (e.g. outcome measures, other dependent variables, observations, laboratory results, analyzed images, volumetric data, etc.) including processed images.
  • Data Item
    Items listed on the Data Expected list in the Collection which may be an individual and discrete Data Structure, Data Structure Category, or Data Structure Group.
  • Data Structure
    A defined organization and group of Data Elements to represent an electronic definition of a measure, assessment, questionnaire, or collection of data points. Data structures that have been defined in the NDA Data Dictionary are available at https://nda.nih.gov/general-query.html?q=query=data-structure
  • Data Structure Category
    An NDA term describing the affiliation of a Data Structure to a Category, which may be disease/disorder or diagnosis related (Depression, ADHD, Psychosis), specific to data type (MRI, eye tracking, omics), or type of data (physical exam, IQ).
  • Data Structure Group
    A Data Item listed on the Data Expected tab of a Collection that indicates a group of Data Structures (e.g., ADOS or SCID) for which data may be submitted instead of a specific Data Structure identified by version, module, edition, etc. For example, the ADOS Data Structure Category includes every ADOS Data Structure such as ADOS Module 1, ADOS Module 2, ADOS Module 1 - 2nd Edition, etc. The SCID Data Structure Group includes every SCID Data Structure such as SCID Mania, SCID V Mania, SCID PTSD, SCID-V Diagnosis, and more.
  • Evaluated Data
    A new Data Structure category, Evaluated Data is analyzed data resulting from the use of computational pipelines in the Cloud and can be uploaded directly back to a miNDAR database. Evaluated Data is expected to be listed as a Data Item in the Collection's Data Expected Tab.
  • Imaging Data
    Imaging+ is an NDA term which encompasses all imaging related data including, but not limited to, images (DTI, MRI, PET, Structural, Spectroscopy, etc.) as well as neurosignal data (EEG, fMRI, MEG, EGG, eye tracking, etc.) and Evaluated Data.
  • Initial Share Date
    Initial Submission and Initial Share dates should be populated according to the NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data will be shared with authorized users upon publication (via an NDA Study) or 1-2 years after the grant end date specified on the first Notice of Award, as defined in the applicable Data Sharing Terms and Conditions.
  • Initial Submission Date
    Initial Submission and Initial Share dates should be populated according to these NDA Data Sharing Terms and Conditions. Any modifications to these will go through the approval processes outlined above. Data for all subjects is not expected on the Initial Submission Date and modifications may be made as necessary based on the project's conduct.
  • Research Subject and Pedigree
    An NDA created Data Structure used to convey basic information about the subject such as demographics, pedigree (links family GUIDs), diagnosis/phenotype, and sample location that are critical to allow for easier querying of shared data.
  • Submission Cycle
    The NDA has two Submission Cycles per year - January 15 and July 15.
  • Submission Exemption
    An interface to notify NDA that data may not be submitted during the upcoming/current submission cycle.

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

Associated Studies

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

Study NameAbstractCollection/Study SubjectsData UsageState
Examining Diagnostic Trends and Gender Differences in the ADOS-IIApproximately 3–4 boys for every girl meet the clinical criteria for autism in studies of community diagnostic patterns and studies of autism using samples of convenience. However, girls with autism have been hypothesized to be underdiagnosed, possibly because they may present with differing symptom profiles as compared to boys. This secondary data analysis used the National Database of Autism Research (NDAR) to examine how gender and symptom profiles are associated with one another in a gold standard assessment of autism symptoms, the Autism Diagnostic Observation Schedule II (ADOS-II; Lord, C., Luyster, R., Guthrie, W., & Pickles A. (2012a). Patterns of developmental trajectories in toddlers with autism spectrum disorder. Journal of Consulting and Clinical Psychology, 80(3):477–489. https://doi.org/10.1037/a0027214. Epub 2012 Apr 16. PMID: 22506796, PMCID: PMC3365612). ADOS-II scores from 6183 children ages 6–14 years from 78 different studies in the NDAR indicated that gender was a significant predictor of total algorithm, restrictive and repetitive behavioral, and social communicative difficulties composite severity scores. These findings suggest that gender differences in ADOS scores are common in many samples and may reflect on current diagnostic practices.46/5615Secondary AnalysisShared
Gender Differences: Confirmatory Factor Analysis of the ADOS-IIPurpose Recent research has suggested that autism may present differently in girls compared to boys, encouraging the exploration of a sex-differential diagnostic criteria. Gender differences in diagnostic assessments have been shown on the ADOS-II, such that, on average, females score significantly lower than males on all scales and are less likely to show atypicality on most items related to social communicative difficulties. Yet, gender differences in the latent structure of instruments like the ADOS-II have not been examined systematically. Methods As such, this secondary data analysis examined 4,100 youth diagnosed with autism (Mage = 9.9, 813 female & 3287 male) examined item response trends by gender on the ADOS-II Module 3. Results Multi-Group Confirmatory Factor Analysis results show that the factor loadings of four ADOS-II items differ across the genders. One SCD item and one RRB item are strongly related to the latent factor in the female group, while two RRB items have larger factor loadings in the male group. Conclusion The assumption of an identical latent factor structure for the ADOS-II Module 3 for males and females might not be justifiable. Possible diagnostic implications are discussed.46/5615Secondary AnalysisShared
* Data not on individual level
helpcenter.collection.associated-studies-tab

NDA Help Center

Collection - Associated Studies

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

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

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

Frequently Asked Questions

  • How do I associate a study to my collection?
    Studies are associated to the Collection automatically when the data is defined in the Study.

Glossary

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