Author
Oregon Health & Science UniversityORCID 0000-0003-0930-0520Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Abbye E. McEwen, Jeremy Stone, Malvika Tejura…·Alan F. Rubin
MaveMD provides a clinical interface for MAVE data to classify variants of uncertain significance and improve genetic medicine outcomes.
Malvika Tejura, Y P Chen, Abbye E. McEwen…·Lea M. Starita
The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.
Jeremy A. Arbesfeld, Estelle Y. Da, James Stevenson…·Alex Handler Wagner
The paper maps MAVE data to human reference sequences to improve variant functional assay utility for genomics applications.
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.
Taylor L. Mighell, Andrew Nishida, Brendan L. O’Connell…·Brian J. O’Roak
The paper introduces Cas12a-Capture, a low-cost, scalable targeted sequencing method that reduces GC bias and improves variant calling accuracy.