Dr Justin Read
Honorary (Fellow)
Department of Paediatrics
6 Scholarly works
0 Projects
HIGHLIGHTS
2025
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.279634.1242024
Journal article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
DOI: 10.1038/s41467-024-49950-22024
Journal article
Correction to: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (Nature Communications, (2024), 15, 1, (6327), 10.1038/s41467-024-49950-2)
DOI: 10.1038/s41467-024-53151-22023
Journal article
Challenges facing repeat expansion identification, characterisation, and the pathway to discovery
DOI: 10.1042/ETLS202300192023
Journal article
Erratum: An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (The American Journal of Human Genetics (2023) 110(1) (105–119), (S0002929722005067), (10.1016/j.ajhg.2022.11.015))
DOI: 10.1016/j.ajhg.2023.05.0052023
Journal article
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
DOI: 10.1016/j.ajhg.2022.11.015