James Rush Priest

This study uses Mendelian randomization to show that higher glycemic traits are inversely associated with thoracic aortic diameters and reduced risk of aneurysm and dissection.

This study shows that a rare splice mutation in SYNPO2L leads to increased SYNPO2L_B isoform expression, impairing atrial cardiomyocyte function, and that restoring SYNPO2L_A improves electrophysiology and contractility via YAP signaling.

This study identifies metabolic defects in PKP2-deficient cardiomyocytes and shows that restoring PKP2 improves contractility and electrophysiological properties.

This study creates a gene regulation map of the human fetal heart to interpret genetic variants associated with congenital heart disease and cardiac traits, identifying valvular interstitial cells as key regulators.

The paper introduces epiTree, a pipeline using tree-based models to detect higher-order epistatic interactions in genomic data, validated on UK Biobank data for red hair and MS prediction.

The paper identifies KPNB1 and MYL4 as novel risk genes for congenital heart disease through GWAS, eQTL analysis, and functional validation in patient-derived cardiomyocytes.

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.

This study identifies genetic risk loci for congenital heart disease subtypes and shows candidate genes play essential roles in heart development.

The paper investigates the association between a 4p16 locus and congenital heart disease in adult survivors using UK Biobank data, finding similar effect sizes to prior studies but limited clinical significance.

This paper introduces IVY, a method that improves Mendelian Randomization by combining genetic variants using probabilistic models, showing better results than allele scoring at moderate sample sizes.

The paper characterizes CNCC derivatives' transcriptomic states and lineage transitions during development, identifying new subpopulations and molecular signatures.

This study examines the association of a 15q11.2 BP1-BP2 deletion with neuropsychiatric, cognitive, and cardiovascular phenotypes in ~500,000 UK Biobank individuals, finding increased prevalence in disease cases and reduced cognitive function in carriers.

The paper assesses the phenome-wide effects of copy number variations in 472,228 UK Biobank participants, identifying known and novel associations with medical traits.

This paper develops a weakly supervised deep learning model to classify aortic valve malformations using unlabeled cardiac MRI sequences, showing improved performance over supervised models.

The paper uses single-cell RNA-seq to study cardiac outflow tract development in mice, identifying new cell lineages and transitions, including myocardial to VSMC trans-differentiation.

The paper quantifies the risk of left ventricular outflow tract obstructive heart defects (LVOTO) from different NOTCH1 variants in two European cohorts, identifying significant intronic variants and loss-of-function variants as risk factors.

This study uses Mendelian randomization to show lower birthweight causally increases risk of CAD and T2D in adulthood, independent of adult BMI and hypertension.