Author

Rebecca Barnard

Oregon Health & Science University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 3 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Brian J. O’RoakiD· 3 shared Eric J FombonneiD· 2 shared Raphael BernieriD· 2 shared Ahmad S. Chatha· 1 shared Akhila BalasubramanianiD· 1 shared Alexander HsiehiD· 1 shared Alexies Camba· 1 shared Ali S. FatemiiD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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3 shared papersGenetics

Brian J. O’RoakORCID

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4 papers

Recent·Most cited

Rapid, Reliable, and Interpretable CNV Curation Visualizations for Diagnostic Settings with SeeNV

Michael S. Bradshaw, Jishnu Raychaudhuri, Lachlan Murphy, Rebecca Barnard, Taylor Firman, Alisa Gaskell, Ryan M. Layer

SeeNV is a tool for rapid, reliable, and interpretable CNV curation in diagnostic settings, achieving high precision and recall with minimal user time.

Journal of Molecular Diagnostics · Mar 3, 2025Peer-reviewedGenomics

Shared and distinct functional effects of patient-specific Tbr1 mutations on cortical development

Marissa Co, Rebecca Barnard, Jennifer N. Jahncke, Sally B. Grindstaff, Lev M. Fedorov, Andrew Adey, Kevin M. Wright, Brian J. O’Roak

This study examines the functional effects of two patient-specific Tbr1 mutations on cortical development in mice, revealing both shared and distinct phenotypes.

Journal of Neuroscience · Aug 9, 2022Peer-reviewedNeuroscience

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N. Turner, Tianyun Wang, Leo Brueggeman, Rebecca Barnard, Alexander Hsieh, LeeAnne Green Snyder, Donna Marie Muzny, Aniko Sabo, Richard A. Gibbs, Evan E. Eichler, Brian J. O’Roak, Jacob J. Michaelson, , Brenda Hauf

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

npj Genomic Medicine · Aug 23, 2019Peer-reviewedGenetics

Exonic mosaic mutations contribute risk for autism spectrum disorder

Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd, Sara Evans-Dutson, Ryan M. Mulqueen, Raphael Bernier, Jean‐Baptiste Rivière, Eric J Fombonne, Brian J. O’Roak

The paper investigates exonic mosaic mutations in autism spectrum disorder (ASD) using whole-exome sequencing data from the Simons Simplex Collection, finding significant synonymous SMM burden and enrichment in chromatin modifiers.

The American Journal of Human Genetics · Aug 31, 2017Peer-reviewedGenetics