Area of research
Hematology · Genetics
Research interest
Research focused on Genetics and Exome sequencing, with related work in Primary immunodeficiency, Hearing loss, Myelofibrosis. Notable publications include 'Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease', 'Targeting of Antithrombin in Hemophilia A or B with RNAi Therapy', and 'Whole-genome sequencing of a sporadic primary immunodeficiency cohort'.
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Targeting of Antithrombin in Hemophilia A or B with RNAi Therapy
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Presenting ADAMTS13 antibody and antigen levels predict prognosis in immune-mediated thrombotic thrombocytopenic purpura
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders