Author
HudsonAlpha Institute for Biotechnology
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Erica N. Woertz, Melissa A. Wilk, Ethan J. Duwell…·Edgar A. DeYoe
This study examines retinal and cortical factors affecting visual acuity in albinism, finding that cortical magnification in albinism is similar to controls despite reduced foveal cone density.
Undiagnosed Diseases Network, James Holt, Brandon M. Wilk…·Elizabeth A. Worthey
VarSight uses binary classification algorithms to prioritize clinically reported variants in rare disease patients, outperforming existing methods in identifying pathogenic variants.
James Holt, Camille L. Birch, Donna M. Brown…·Elizabeth A. Worthey
This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.