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 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
- 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
- Macdonald-Laurs, E, Maixner, WJ, Bailey, CA, Barton, SM, Mandelstam, SA, Yuan-Mou Yang, J, Warren, AEL, Kean, MJ, Francis, P, MacGregor, D, et al. One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia.. Neurology 97(2) : e178 -e190 2021 view publication
- Braden, RO, Boyce, JO, Stutterd, CA, Pope, K, Goel, H, Leventer, RJ, Scheffer, IE, Morgan, AT. Speech, Language, and Oromotor Skills in Patients With Polymicrogyria.. Neurology 96(14) : e1898 -e1912 2021 view publication
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