Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, and Cancer Genomics and Diagnostics.
Genomic data in the All of Us Research Program
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
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
Targeted long-read sequencing identifies missing disease-causing variation
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
The contribution of de novo coding mutations to autism spectrum disorder