Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, and Genetic Neurodegenerative Diseases.
Mechanism-Free Repurposing of Drugs For C9orf72-related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
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
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
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
<i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
The genetic architecture of ALS
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics
<i>ATXN1</i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
C9orf72 intermediate expansions of 24–30 repeats are associated with ALS
Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy
The lysosomal disease caused by mutant VPS33A
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study
ATXN2 trinucleotide repeat length correlates with risk of ALS
Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis