Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, and Parkinson's Disease Mechanisms and Treatments.
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Single-cell polygenic risk scores dissect cellular and molecular heterogeneity of complex human diseases
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
Extreme exercise in males is linked to mTOR signalling and onset of amyotrophic lateral sclerosis
Optimised machine learning for time-to-event prediction in healthcare applied to timing of gastrostomy in ALS: a multi-centre, retrospective model development and validation study
Considerations in the search for epistasis
Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of <scp>ALS</scp>
Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Clinical testing panels for ALS: global distribution, consistency, and challenges
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Mitochondrial function determines severity but not risk of amyotrophic lateral sclerosis
Large-scale Analyses of CAV1 and CAV2 Suggest Their Expression is Higher in Post-mortem ALS Brain Tissue and Affects Survival
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Advances in the genetic classification of amyotrophic lateral sclerosis
Spatiotemporal Proteomic Analysis of Stress Granule Disassembly Using APEX Reveals Regulation by SUMOylation and Links to ALS Pathogenesis
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype