Area of research
Cardiology and Cardiovascular Medicine · Genetics
Research interest
Research interests include Cardiomyopathy and Myosin Studies, Cardiac electrophysiology and arrhythmias, Cardiovascular Effects of Exercise, and Cardiac pacing and defibrillation studies.
Social Determinants of Health and Clinical Outcomes in Hypertrophic Cardiomyopathy.
Experiences, Values and Goals of People Living with Obstructive Hypertrophic Cardiomyopathy: Exploratory Patient Interviews.
NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes
Differences in Disease Trajectory, Comorbidities, and Mortality in Sarcomeric and Nonsarcomeric Hypertrophic Cardiomyopathy.
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses
The Natural History of Massive Left Ventricular Hypertrophy in Pediatric Hypertrophic Cardiomyopathy: A Multiregistry Analysis.
Cardiomyopathy and sudden cardiac death as a rare presentation of mucolipidosis type III in a family with compound heterozygous variants in GNPTAB
Genes Associated With Hypertrophic Cardiomyopathy
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants
Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.
The Clinical Trajectory of NYHA Functional Class I Patients With Obstructive Hypertrophic Cardiomyopathy.
Genetic counsellors: facilitating the integration of genomics into health care.
Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants.
Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
Reproductive options and genetic testing for patients with an inherited cardiac disease.
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Clinical Validity of Autosomal Dominant <i>ALPK3</i> Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy.
The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies.
Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification.
Development and acceptability of a support intervention for families after sudden cardiac death in the young.
Correction to: Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.
Well-being and self-care strategies for cardiovascular genetic counselors: a qualitative study
The mutational spectrum of Jervell and Lange-Nielsen syndrome: insights from highly consanguineous families
Cardiac arrest while using the toilet: not uncommon and associated with adverse resuscitation profile.
Cardiac arrest in Australia: a call to action.
Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS).