5 - All research
Permanent URI for this communityhttps://hdl.handle.net/2164/705
Browse
15 results
Search Results
Item 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 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 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 Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing : implications for future testing(2023-02-01) Hocking, Lynne; Andrews, Claire; Armstrong, Christine; Ansari, Morad; Baty, David; Berg, Jonathan; Bradley, Therese; Clark, Caroline; Diamond, Austin; Doherty, Jill; Lampe, Anne; McGowan, Ruth; Moore, David J.; O'Sullivan, Dawn; Purvis, Andrew; Santoyo-Lopez, Javier; Westwood, Paul; Abbott, Michael; Williams, Nicola; Scottish Genomes Partnership; Aitman, Timothy J.; Miedzybrodzka, Zosia; University of Aberdeen.Medical Sciences; University of Aberdeen.Health Economics Research Unit; University of Aberdeen.Centre for Health Data Science; University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Medical SciencesItem Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer(2022-06-28) McClurg, Dylan P.; Urquhart, Gordan; McGoldrick, Trevor; Chatterji, Subarnarekha; Miedzybrodzka, Zosia; Speirs, Valerie; Elsberger, Beatrix; University of Aberdeen.Medical Education; University of Aberdeen.Medicine, Medical Sciences & Nutrition; University of Aberdeen.Centre for Health Data Science; University of Aberdeen.Grampian Data Safe Haven (DaSH); University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Medical Sciences; University of Aberdeen.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 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 Young-onset colorectal cancer in the North East of Scotland : survival, clinico- pathological features and genetics(2020-02-10) Perrott, Sarah; Laurie, Kirsten; Laws, Kirsten; Johnes, Annie; Miedzybrodzka, Zosia; Samuel, Leslie; University of Aberdeen.Medical Education; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Aberdeen Centre for EvaluationItem An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort(2019-07-29) Kerr, Shona M.; Klaric, Lucija; Halachev, Mihail; Hayward, Caroline; Boutin, Thibaud S.; Meynert, Alison M.; Semple, Colin A.; Tuiskula, Annukka M.; Swan, Heikki; Santoyo-Lopez, Javier; Vitart, Veronique; Haley, Chris; Dean, John; Miedzybrodzka, Zosia; Aitman, Timothy J.; Wilson, James F.; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)