Sean Joseph Jurgens

A TMEM175 Mutation Disrupts the Lysosomal-Mitochondrial Axis Causing Short QT Syndrome and Sudden Cardiac Death

This paper identifies a TMEM175 mutation causing short QT syndrome and sudden cardiac death by disrupting lysosomal-mitochondrial interactions and impairing mitochondrial function.

Genetic support for an adverse effect of calcium channel blockers on the human thoracic aorta

This study uses Mendelian randomization to assess the causal role of CACNA1C, a target of calcium channel blockers, on thoracic aortic aneurysm and dissection, finding lower risk with higher aortic expression.

Transcriptomic and proteomic Mendelian randomization identifies putative therapeutic targets for thoracic aortic disease

This study uses Mendelian randomization to identify 28 putative causal genes for thoracic aortic disease, highlighting potential therapeutic targets.

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

Integrating multi-ancestry common and rare variant mapping accelerates therapeutic target discovery

This study integrates common and rare variant mapping across diverse populations to identify novel therapeutic targets, finding NRG4 as a candidate for preserving kidney function.

Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations

The paper identifies 800 exome-wide significant rare coding variants associated with blood lipids in over a million diverse individuals, including 130 driven by non-European-like populations.

Mapping the genetic landscape of eight common cardiovascular diseases

This study identifies shared genetic factors across eight cardiovascular diseases using large-scale genetic data, revealing clusters and pathways related to vascular biology and systemic risk factors.

Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings

This study evaluates polygenic scores for hypertrophic cardiomyopathy (HCM) in the general population and clinical settings, showing increased risk with higher scores and potential for clinical application.

The Brugada syndrome associated gene WT1 impacts on SCN5A expression and cardiac conduction

This study shows WT1 regulates SCN5A expression and cardiac conduction in Brugada syndrome through a regulatory element in the RV.

Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma

The paper identifies a rare variant in VE-PTP associated with CSC, varicose veins, and glaucoma using genome-wide data from multiple cohorts.

Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses

The paper shows adjusting for common variant polygenic scores improves rare variant association yield in 65 UK Biobank traits without increasing false positives.

Clinical and Therapeutic Applications of Individual-level Tissue-Specific Imputed Transcriptomes

The paper imputes tissue-specific gene expression for 486,452 UK Biobank participants and demonstrates its use in prioritizing therapeutic targets and predicting phenotypic risk.

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.

Genetic Analysis of Right Heart Structure and Function in 40,000 People

The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

This study investigates how rare and common genetic variations contribute to QT interval duration, finding that both monogenic and polygenic factors influence QTc prolongation, with polygenic risk modulating the effect of rare variants.

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank

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.