Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, CRISPR and Genetic Engineering, Cardiac electrophysiology and arrhythmias, and Diet and metabolism studies.
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
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
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
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
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