Browsing by Author "Tzoneva, Gannie"
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Item Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results(2025-04-03) Kerr, Shona M; Klaric, Lucija; Muckian, Marisa D; Johnston, Kiera; Drake, Camilla; Halachev, Mihail; Cowan, Emma; Snadden, Lesley; Dean, John; Zheng, Sean L; Thami, Prisca K; Ware, James S; Tzoneva, Gannie; Shuldiner, Alan R; Miedzybrodzka, Zosia; Wilson, James F; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Medical Genetics Group; University of Aberdeen.Molecular and Cellular Function; University of Aberdeen.Aberdeen Cancer Centre; University of Aberdeen.Institute of Medical SciencesItem Clinical case study meets population cohort : Identification of a BRCA1 pathogenic founder variant in Orcadians(2023-05) Kerr, Shona M.; Cowan, Emma; Klaric, Lucija; Bell, Christine; O'Sullivan, Dawn; Buchanan, David; Grzymsk, Joseph J.; van Hout, Cristopher V.; Tzoneva, Gannie; Shuldiner, Alan R.; Wilson, James F; Miedzybrodzka, Zosia; University of Aberdeen.Applied Medicine; University of Aberdeen.Centre for Health Data Science; University of Aberdeen.Institute of Medical SciencesItem Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland(2024-12) Kerr, Shona M.; Klaric, Lucija; Muckian, Marisa D.; Cowan, Emma; Snadden, Lesley; Tzoneva, Gannie; Shuldiner, Alan R.; Miedzybrodzka, Zosia; Wilson, James F.; University of Aberdeen.Applied Medicine; University of Aberdeen.Molecular and Cellular Function; University of Aberdeen.Aberdeen Cancer Centre; University of Aberdeen.Medical Sciences; University of Aberdeen.Institute of Medical Sciences; University of Aberdeen.Medical Genetics Group