Uyenlinh L. Mirshahi

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

The paper estimates penetrance of monogenic diabetes variants across different ascertainment contexts, finding age-related variability for HNF1A/HNF4A variants but consistent penetrance for GCK variants.

This study uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.