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, Fearnley, LG, Read, J, Snell, P, Davies, KC, Scott, L, Gillies, G, Thompson, GC, Field, TA, Eldo, A, et al. Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia. 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.. Am J Hum Genet 110(6) : 1018 2023 view publication
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