Daniel Philip Judge

This study shows that DSP mutations in cardiac fibroblasts enhance TGFβ1-induced fibrosis by disrupting beclin-1 regulation and autophagy, leading to excessive collagen accumulation and fibrotic gene activation.

This study examines how genetic testing results for cardiomyopathy and arrhythmia influence clinical management decisions, finding that positive results lead to more management changes.

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

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.

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

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.

The paper identifies GCK variant carriers at increased risk for T2D and its complications, despite their glucose elevations not meeting standard T2D criteria.

The paper investigates the impact of hypertension on the positive predictive value (PPV) for polycystic kidney disease in carriers of PKD1 and PKD2 variants.

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

The paper curates and classifies genetic evidence for dilated cardiomyopathy (DCM), identifying 19 genes with strong or moderate evidence and highlighting gaps in understanding.