Daniel Philip Judge

Desmoplakin mutations in cardiac fibroblasts cause TGF?1-mediated pathological fibrogenesis in desmoplakin cardiomyopathy via beclin-1 regulation

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.

Impact of Cardiomyopathy and Arrhythmia Genetic Testing on Clinical Management Decisions

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

From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence

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

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium

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.

Lynch syndrome in the general population: low clinical utility of genomic screening for PMS2 pathogenic variants

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

A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease across a diverse cohort

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.

Patients with Type 2 Diabetes and a GCK variant are still at risk for T2D-related secondary complications

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

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers

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

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

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

An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

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