Author
University of WashingtonORCID 0000-0003-1334-4235Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Elizabeth G. Plender, Timofey Prodanov, Jiadong Lin…·Evan E. Eichler
The paper characterizes mucin VNTR diversity using long-read genomes and identifies disease associations in cystic fibrosis patients.
Alina Izabela Esterhuizen, Nicki Tiffin, Gillian Tracy Riordan…·Gemma L. Carvill
The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.
Samantha M. Baxter, Jennifer Ellen Posey, Nicole J. Lake…·Kurt N. Hetrick
The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.