5 - All research
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Item 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 SciencesItem Continuing the sequence? : Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in Scotland(2022-10) Abbott, Michael; McKenzie, Lynda; Moran, Blanca; Heidenreich, Sebastian; Hernández, Rodolfo Andrés; Hocking- Mennie, Lynne; Clark, Caroline; Clark, Caroline; Gomes, Joana; Lampe, Anne; Baty, David; McGowan, Ruth; Miedzybrodzka, Zosia; Ryan, Mandy; University of Aberdeen.Health Economics Research Unit; University of Aberdeen.Institute of Medical Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Applied Health 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)Item 3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)(2013-01-30) Duce, Suzanne L; D'Alessandro, Mariella; Du, Yimeng; Jagpal, Baljit; Gilbert, Fiona J; Crichton, Lena; Barker, Simon; Collinson, J Martin; Miedzybrodzka, Zosia; University of Aberdeen.Applied Medicine; University of Aberdeen.Medical Sciences; University of Aberdeen.Grampian Data Safe Haven (DaSH)