Area of research
Molecular Biology · Genetics
Research interest
Research focused on Gene and Genetics, with related work in Computational biology, Gene ontology, Synapse. Notable publications include 'SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse', 'PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels', and 'An expanded evaluation of protein function prediction methods shows an improvement in accuracy'.
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
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
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
Human and mouse essentiality screens as a resource for disease gene discovery
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
An expanded evaluation of protein function prediction methods shows an improvement in accuracy
The Gene Ontology (GO) Cellular Component Ontology: integration with SAO (Subcellular Anatomy Ontology) and other recent developments