Kate Pope
Kate Pope
Clinical Research Coordinator and Associate Genetic Counsellor
Clinical Research Coordinator and Associate Genetic Counsellor
Top Publications
- Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ, Bahlo, M. Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data. 851675 2026 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. 2026 view publication
- Sun, J, Noss, S, Banerjee, D, Bhavana, VH, Smolen, C, Das, M, Giardine, B, Prabhu, A, Amor, DJ, Pope, K, et al. An integrated framework for functional dissection of variable expressivity in genetic disorders.. 2025 view publication
- Davies, KC, Rafehi, H, Fearnley, LG, Snell, P, Gillies, G, Field, TA, Halmágyi, GM, Kumar, KR, Pope, K, Smyth, R, et al. Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.. Cerebellum 24(4) : 111 2025 view publication
- Rafehi, H, Fearnley, LG, Read, J, Snell, P, Davies, KC, Scott, L, Gillies, G, Thompson, GC, Field, TA, Eldo, A, et al. A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.. Genome Res 35(4) : 769 -785 2025 view publication
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