Kayli Davies
Kayli Davies
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
- 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. American Journal of Human Genetics 110(6) : 1018 2023 view publication
- Davies, KC, Bozaoglu, K, Lockhart, PJ. Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1. Stem Cell Research 68: 103047 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. American Journal of Human Genetics 110(1) : 105 -119 2023 view publication
- Davies, K, Szmulewicz, DJ, Corben, LA, Delatycki, M, Lockhart, PJ. RFC1-Related Disease. Neurology Genetics 8(5) : e200016 2022 view publication
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