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Kayli Davies

Kayli Davies

Details

Role PhD Student
Research area Bruce Lefroy Centre

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
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  • 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
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  • 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
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  • 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 Res 68: 103047 2023
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  • 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
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