Area of research
Genetics · Surgery
Research interest
Research interests include Genomics and Rare Diseases, Lipoproteins and Cardiovascular Health, Genetic factors in colorectal cancer, and Cancer Genomics and Diagnostics.
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
Origins and impact of extrachromosomal DNA
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
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
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
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
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
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
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
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
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
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Clinical Genetic Testing for Familial Hypercholesterolemia