5 - All research
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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 How many people have a Huntington's Disease expansion : A population-based prevalence study in Northern Scotland(2024-11-29) Cruickshank, Heather; Miedzybrodzka, Zosia; University of Aberdeen.Applied Medicine; University of Aberdeen.Medical Sciences; 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 GroupItem Feasibility and ethics of using data from the Scottish newborn blood spot archive for research(2022-10-06) Cunningham-Burley, Sarah; McCartney, Daniel L; Campbell, Archie; Flaig, Robin; Orange, Clare E L; Porteous, Carol; Aitken, Mhairi; Mulholland, Ciaran; Davidson, Sara; McCafferty, Selena M; Murphy, Lee; Wrobel, Nicola; McCafferty, Sarah; Wallace, Karen; St Clair, David; Kerr, Shona; Hayward, Caroline; McIntosh, Andrew M; Sudlow, Cathie; Marioni, Riccardo E; Pell, Jill; Miedzybrodzka, Zosia; Porteous, David J; University of Aberdeen.Applied MedicineItem VIKING II, a worldwide observational cohort of volunteers with northern isles ancestry(2023-05-16) Kerr, Shona M.; Edwards, Rachel; Buchanan, David; Dean, John; Miedzybrodzka, Zosia; Wilson, James F.; University of Aberdeen.Medical Genetics Group; University of Aberdeen.University of Aberdeen; University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Medical SciencesItem Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome : Causes, Clinical Presentation, and Therapeutic Options(2023-05) Bashir, Bilal; Ho, Jan H; Downie, Paul; Hamilton, Paul; Ferns, Gordon; Datta, Dev; Cegla, Jaimini; Wierzbicki, Anthony S; Dawson, Charlotte; Jenkinson, Fiona; Delaney, Hannah; Mansfield, Michael; Teoh, Yee; Miedzybrodzka, Zosia; Haso, Haya; Durrington, Paul N; Soran, Handrean; University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Medical SciencesItem A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers(2021-05-14) Coignard, Juliette; Gregory, Helen; Miedzybrodzka, Zosia; Lush, Michael; Beesley, Jonathan; O'Mara, Tracy A.; Dennis, Joe; Tyrer, Jonathan P.; Barnes, Daniel R; McGuffog, Lesley; Leslie, Goska; Bolla, Manjeet K; Adank, Muriel A.; Agata, Simona; Ahearn, Thomas; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K; Augustinsson, Annelie; Azzollini, Jacopo; Barrowdale, Daniel; Baynes, Caroline; Becher, Heiko; Bermisheva, Marina; Bernstein, Leslie; Bialkowska, Katarzyna; Blomqvist, Carl; Bojesen, Stig E; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Buys, Saundra S; Caldes, Trinidad; Caligo, Maria A; Campa, Daniele; Carter, Brian D.; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J.; Chung, Wendy K.; Claes, Kathleen; Clarke, Christine L.; Collée, J Margriet; Conroy, Don M.; GEMO Study Collaborators; EMBRACE Collaborators; HEBON Investigators; ABCTB Investigators; University of Aberdeen.Medicine, Medical Sciences & Nutrition; University of Aberdeen.Applied MedicineItem Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic(2020-02) Keenan, Karen F; McKee, Lorna; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Epidemiology Group; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Business Management; University of Aberdeen.Grampian Data Safe Haven (DaSH)