Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genetic and Kidney Cyst Diseases, and RNA Research and Splicing.
Origins and impact of extrachromosomal DNA
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
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
Revealing the quantum regime in tunnelling plasmonics
Collaborative Research: Multi-proxy sea-level reconstructions and projections in the middle Pacific Ocean
Origin and Deformation of the Ontong Java Plateau
GP-Impact: Improving Geoscience Education Pathways through Engaging Scientific and Career Experiences
Collaborative Research: Enhanced 3-D tomography of the crust and upper mantle beneath the Gulf Extensional Province and Baja California
MARGINS: Collaborative Research: 3-D Tomography of the Crust and Upper Mantle Beneath the Gulf Extensional Province and Baja California
MARGINS: Collaborative Research: 3-D Tomography of the Crust and Upper Mantle Beneath the Gulf Extensional Province and Baja California
Collaborative Research: Structure and Dynamics of the Crustand Upper Mantle from the Great Basin to the Great Plains
Shear-Wave Splitting and Tectonics from Teleseismic Arrivals at Seismic Stations in Western North America
Seismic Studies of the Root of the Sierra Nevada
Shear-Wave Splitting from Teleseismic Arrivals at Seismic Stations in the Basin and Range and the Transition to the San Andreas Fault, California