Area of research
Genetics · Molecular Biology
Research interest
Research interests include BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, DNA Repair Mechanisms, and Genetic Associations and Epidemiology.
A framework for the clinical implementation of optical genome mapping in hematologic malignancies
Familial long-read sequencing increases yield of de novo mutations
Optical genome mapping enables constitutional chromosomal aberration detection
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders