Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Evolution and Genetic Dynamics, Genomics and Phylogenetic Studies, and Genetic Associations and Epidemiology.
Machine Learning Methods in Clinical Flow Cytometry
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
The genomic and phenotypic diversity of Schizosaccharomyces pombe
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