Douglas A. Stoller

Population genomic screening leads to improved lipid management in patients with familial hypercholesterolemia

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

From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence

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

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium

This study identifies barriers and needs for genetic evaluation in dilated cardiomyopathy through a survey and discussion with cardiologists, highlighting the need for improved reimbursement, education, and infrastructure.

Lynch syndrome in the general population: low clinical utility of genomic screening for PMS2 pathogenic variants

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

A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease across a diverse cohort

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.