Greta Gillies
Greta Gillies
Top Publications
- Trevis, KJ, Brown, NJ, Green, C, Lockhart, P, Hickey, P, Fanjul-Fernández, M, Bromhead, C, Desai, T, Vick, T, Gillies, G, et al. Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype. 659722 2024 view publication
- Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NL, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, et al. Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS. 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. A novel intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14). 2024 view publication
- Rafehi, H, Green, C, Bozaoglu, K, Gillies, G, Delatycki, MB, Lockhart, PJ, Scheffer, IE, Bahlo, M. Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. European Journal of Human Genetics 31(1) : 122 -124 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
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