Matthew T. Oetjens

The paper explores patient and clinician perspectives on identifying and managing the underlying causes of severe hypercholesterolemia through genomic insights.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

Family-based GWAS meta-analysis of 34 phenotypes shows standard GWAS effects carry sizeable confounding uncorrelated with direct genetic effects, while assortative mating likely inflates SNP heritability and genetic correlations.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

The paper estimates the prevalence of FLCN pathogenic variants and BHD-related phenotypes in a healthcare population, finding a higher frequency than previously reported and underdiagnosis of BHD.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

The paper was withdrawn due to lack of full author consent.

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

This study sequenced ancient dog genomes from the Neolithic period in Europe, finding continuity with modern dogs and rejecting a population replacement model and dual origins hypothesis for dog domestication.