Area of research
Genetics · Cancer Research
Research interest
Research interests include Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, and Mitochondrial Function and Pathology.
Origins and impact of extrachromosomal DNA
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
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
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease
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
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy