Area of research
Cardiology and Cardiovascular Medicine · Genetics
Research interest
Research interests include Cardiomyopathy and Myosin Studies, Cardiac electrophysiology and arrhythmias, Genomics and Rare Diseases, and Congenital heart defects research.
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Arrhythmogenic potential of myocardial disarray in hypertrophic cardiomyopathy: genetic basis, functional consequences and relation to sudden cardiac death
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
Titin-truncating variants affect heart function in disease cohorts and the general population
143 Clinical and Genetic Characteristics of Familial Dilated Cardiomyopathy in a Large UK Prospective Cohort
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease