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 Methods applied to neonatal dried blood spot samples for secondary research purposes : a scoping review(2024-08) Canning, Jordan; Strawbridge, Rona J.; Miedzybrodzka, Zosia; Marioni, Riccardo E.; Melbye, Mads; Porteous, David J.; Hurles, Matthew E.; Sattar, Naveed; Sudlow, Cathie L.M.; Collins, Rory; Padmanabhan, Sandosh; Pell, Jill P.; University of Aberdeen.Medical Genetics Group; University of Aberdeen.Applied MedicineItem 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 Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome(2022-12-04) Liu, Yanshan; Banka, Siddharth; Huang, Yingzhi; Hardman-Smart, Jonathan; Pye, Derek; Torrelo, Antonio; Beaman, Glenda M; Kazanietz, Marcelo G; Baker, Martin J; Ferrazzano, Carlo; Shi, Chenfu; Orozco, Gisela; Eyre, Stephen; van Geel, Michel; Bygum, Anette; Fischer, Judith; Miedzybrodzka, Zosia; Abuzahra, Faris; Rübben, Albert; Cuvertino, Sara; Ellingford, Jamie M; Smith, Miriam J; Evans, D Gareth; Weppner-Parren, Lizelotte J M T; van Steensel, Maurice A M; Chaudhary, Iskander H; Mangham, D Chas; Lear, John T; Paus, Ralf; Frank, Jorge; Newman, William G; Zhang, Xue; University of Aberdeen.Centre for Health Data Science; University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Medical SciencesItem 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 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 Sciences