Area of research
Genetics · Surgery
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, BRCA gene mutations in cancer, and Pancreatic function and diabetes.
Genomic data in the All of Us Research Program
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus