5 - All research
Permanent URI for this communityhttps://hdl.handle.net/2164/705
Browse
16 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 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 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 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 Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service(2022-05-18) Maher, Eamonn R.; Adlard, Julian; Barwell, Julian; Brady, Angela F.; Brennan, Paul; Cook, Jackie; Crawford, Gillian S.; Dabir, Tabib; Davidson, Rosemarie; Dyer, Rebecca; Harrison, Rachel; Forde, Claire; Halliday, Dorothy; Hanson, Helen; Hay, Eleanor; Higgs, Jenny; Jones, Mari; Lalloo, Fiona; Miedzybrodzka, Zosia; Ong, Kai Ren; Pelz, Frauke; Ruddy, Deborah; Snape, Katie; Whitworth, James; Sandford, Richard N.; University of Aberdeen.Centre for Health Data Science; University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Medical Sciences; University of Aberdeen.Medical Genetics GroupItem 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 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 Medicine