Donna M. Lehman

The paper investigates how the CCL2 rs13900 polymorphism affects mRNA stability and HuR binding, influencing CCL2 expression and disease susceptibility.

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

The paper develops Ped-sim, a method to simulate genetic data for relatives, showing that sex-specific maps and crossover interference significantly affect IBD sharing patterns.

DRUID improves relative detection by inferring IBD sharing of ungenotyped ancestors, outperforming PADRE in identifying relatives and reducing generational gaps.

This study evaluates 12 relatedness inference methods using genome-wide data from 2,485 relatives, finding high accuracy for first and second degree relationships but significant drops for seventh degree relationships.

This paper introduces PULSAR, a method for phasing genotypes in pedigrees using whole genome sequencing data, showing high accuracy and performance in simulations.