Area of research
Cardiology and Cardiovascular Medicine · Molecular Biology
Research interest
Research interests include Cardiomyopathy and Myosin Studies, Cardiovascular Effects of Exercise, Cardiac electrophysiology and arrhythmias, and Nuclear Structure and Function.
Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants
Naxos Disease and Related Cardio-Cutaneous Syndromes
Clinical features and outcomes in carriers of pathogenic desmoplakin variants
A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy
Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy
Alpha kinase 3 signaling at the M-band maintains sarcomere integrity and proteostasis in striated muscle
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
The genetic architecture of Plakophilin 2 cardiomyopathy
Cadherin 2-Related Arrhythmogenic Cardiomyopathy
Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy
A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
Definition and Treatment of Arrhythmogenic Cardiomyopathy: An Updated Expert Panel Report
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
Atlas of the clinical genetics of human dilated cardiomyopathy
Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study