Area of research
Cardiology and Cardiovascular Medicine · Molecular Biology
Research interest
Research interests include Cardiac electrophysiology and arrhythmias, Ion channel regulation and function, ECG Monitoring and Analysis, and Cardiac Arrhythmias and Treatments.
Implantable loop recorders in patients with Brugada syndrome: <i>the BruLoop study</i>
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome
Mutation location and <i>I</i> Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
<i>SCN5A</i> Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in <i>SCN5A</i> Families
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death