Area of research
Pulmonary and Respiratory Medicine · Genetics
Research interest
Research interests include Connective tissue disorders research, Aortic Disease and Treatment Approaches, Aortic aneurysm repair treatments, and Cardiac Valve Diseases and Treatments.
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm