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 Should Scotland Provide Genome-Wide Sequencing for the Diagnosis of Rare Developmental Disorders? : A Cost-Effectiveness Analysis(2025-04) Abbott, Michael; Ryan, Mandy; Hernández, Rodolfo Andrés; McKenzie, Lynda; Heidenreich, Sebastian; Hocking, Lynne; Clark, Caroline; Ansari, Morad; Moore, David; Lampe, Anne; McGowan, Ruth; Berg, Jonathan; Miedzybrodzka, Zosia; University of Aberdeen.Health Economics Research Unit; 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 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 Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia : systematic reviews, qualitative study and cost-effectiveness analysis(2023-10) Qureshi, Nadeem; Woods, Bethan; Neves de Faria, Rita; Saramago Goncalves, Pedro; Cox, Edward; Leonardi Bee, Jo; Condon, Laura; Weng, Stephen; Akyea, Ralph K; Iyen, Barbara; Roderick, Paul; Humphries, Steve E; Rowlands, William; Watson, Melanie; Haralambos, Kate; Kenny, Ryan; Datta, Dev; Miedzybrodzka, Zosia; Byrne, Christopher; Kai, Joe; University of Aberdeen.Applied MedicineItem 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 Creation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and Families(2021-07-08) Tobias, Adam P.; Berg, Jonathan; Cetnarskyj, Roseanne; Miedzybrodzka, Zosia; Porteous, Mary E.; Tobias, Edward S.; University of Aberdeen.Centre for Health Data Science; 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 Full UPF3B function is critical for neuronal differentiation of neural stem cells(2015-05-27) Alrahbeni, Tahani; Sartor, Francesca; Anderson, Jihan; Miedzybrodzka, Zosia; McCaig, Colin; Muller, Berndt; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)