Area of research
Physiology · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Telomeres, Telomerase, and Senescence, Neonatal Health and Biochemistry, Acute Myeloid Leukemia Research, and DNA Repair Mechanisms.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita
Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB
The Human Phenotype Ontology in 2017
Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study
ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function