Kate Pope
Kate Pope
Clinical Research Coordinator and Associate Genetic Counsellor
Clinical Research Coordinator and Associate Genetic Counsellor
Top Publications
- Jensen, M, Smolen, C, Tyryshkina, A, Pizzo, L, Banerjee, D, Oetjens, M, Shimelis, H, Taylor, CM, Pounraja, VK, Song, H, et al. Genetic modifiers and ascertainment drive variable expressivity of complex disorders.. medRxiv 2024 view publication
- 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 2024 view publication
- Kooshavar, D, Amor, DJ, Boggs, K, Baker, N, Barnett, C, de Silva, MG, Edwards, S, Fahey, MC, Marum, JE, Snell, P, et al. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.. Brain Commun 6(2) : fcae056 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
- Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.. Hum Mol Genet 31(3) : 362 -375 2022 view publication
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