Dr Justin Read
Dr Justin Read
Top Publications
- Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al. A novel intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14). 2024 view publication
- Cortese, A, Beecroft, SJ, Facchini, S, Curro, R, Cabrera-Serrano, M, Stevanovski, I, Chintalaphani, S, Gamaarachchi, H, Weisburd, B, Folland, C, et al. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. 2024 view publication
- Read, JL, Davies, KC, Thompson, GC, Delatycki, MB, Lockhart, PJ. Challenges facing repeat expansion identification, characterisation, and the pathway to discovery.. Emerg Top Life Sci 7(3) : 339 -348 2023 view publication
- Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.. Am J Hum Genet 110(6) : 1018 2023 view publication
- Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.. Am J Hum Genet 110(1) : 105 -119 2023 view publication
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