Area of research
Genetics · Surgery
Research interest
Research interests include Vascular Anomalies and Treatments, Vascular Malformations and Hemangiomas, Tracheal and airway disorders, and Genomics and Rare Diseases.
Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT)
Homozygous <i>GDF2</i> nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
<i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
Molecular Pathology Methods
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy
Genetic Variants Associated with Port-Wine Stains
BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective