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 Cardiomyopathy and Myosin Studies.
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms
<i>LOX</i> Mutations Predispose to Thoracic Aortic Aneurysms and Dissections
Aortic Disease Presentation and Outcome Associated With <i>ACTA2</i> Mutations
<i>RNF213</i> Rare Variants in an Ethnically Diverse Population With Moyamoya Disease
MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome