Area of research
Genetics · Cancer Research
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, BRCA gene mutations in cancer, and Cancer Genomics and Diagnostics.
The impact of common and rare genetic variants on bradyarrhythmia development
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes
Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (<i>MLIP</i>) gene cause myopathy with hyperCKemia
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
PADRE: Pedigree-Aware Distant-Relationship Estimation
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