Specialization
Cardiogenetics
Pulmonary Arterial Hypertension
Genetics of Aortic Disease
Birt-Hogg-Dubé Syndrome
Focus of research
Associate Professor in Clinical Genetics, specialty in cardiogenetics. Research focus on genotype-phenotype associations in patient cohorts and the identification of novel disease genes. My background integrates clinical and molecular research with a track-record in both clinical and basic research. Member of the ClinGen expert panel for Pulmonary Arterial Hypertension, co-editor of three editions of the Clinical Cardiogenetics textbook.
Genotype-Phenotype Correlations
Cohort studies
Gene Discovery