Author
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.
4 papers
Recent·Most cited
Michael S. Bradshaw, Jishnu Raychaudhuri, Lachlan Murphy…·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.
Marissa Co, Rebecca Barnard, Jennifer N. Jahncke…·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.
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya…·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.
Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd…·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.