Area of research
Molecular Biology · Cancer Research
Research interest
Research interests include Cancer Genomics and Diagnostics, Genomics and Rare Diseases, RNA modifications and cancer, and RNA Research and Splicing.
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
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
Dipolar Molecular Rotors in Surface and Bulk Inclusion Compounds.
Mechanical Loss Mechanisms in c-axis Gallium Nitride Nanowires
Mathematical Sciences Research Equipment
Mathematical Sciences: Homogeneous Continua
Mathematical Sciences: One-Dimensional, Homogenous Continua
Classification of Homogeneous Curves