Area of research
Molecular Biology · Genetics
Research interest
Research interests include Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Biomedical Text Mining and Ontologies, and Genomics and Phylogenetic Studies.
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma
Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli
Human and mouse essentiality screens as a resource for disease gene discovery
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
The Human Phenotype Ontology in 2017