Dr Liam Fearnley
Honorary (Fellow)
Department of Medical Biology (WEHI)
36 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Genetic characterisation of ATXN2 in Australian amyotrophic lateral sclerosis
DOI: 10.1016/j.dscb.2025.1003012025
Journal article
Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson’s disease and Lewy Body Dementia cohorts
DOI: 10.1038/s41531-025-01188-52025
Journal article
Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis
DOI: 10.1038/s42003-025-09021-82025
Journal article
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
DOI: 10.1007/s12311-025-01867-22025
Journal article
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
DOI: 10.1038/s41588-025-02172-82025
Journal article
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data
DOI: 10.1093/nargab/lqaf0332025
Journal article
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
DOI: 10.1101/gr.279634.124
RECENT SCHOLARLY WORKS
2025
Journal article
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy
DOI: 10.1093/braincomms/fcaf4332025
Journal article
Drug repurposing candidates for amyotrophic lateral sclerosis using common and rare genetic variants
DOI: 10.1093/braincomms/fcaf1842024
Journal article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
DOI: 10.1038/s41467-024-49950-2