Catherine A. Hajek

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

This paper conducts a multi-ancestry time-to-event GWAS to identify genetic variants associated with incident cardiovascular disease in people with type 2 diabetes, finding three novel loci and confirming known CAD variants.

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

The paper investigates the impact of hypertension on the positive predictive value (PPV) for polycystic kidney disease in carriers of PKD1 and PKD2 variants.