Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genetic factors in colorectal cancer, and Lipoproteins and Cardiovascular Health.
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS