Browsing by Author "Miedzybrodzka, Zosia"

Now showing 1 - 20 of 30

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)
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 Sciences
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)
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 Medicine
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 Sciences
The Angelina Jolie effect : how high celebrity profile can have a major impact on provision of cancer related services
(2014-09-19) Evans, D Gareth R; Barwell, Julian; Eccles, Diana M; Collins, Amanda; Izatt, Louise; Jacobs, Chris; Donaldson, Alan; Brady, Angela F; Cuthbert, Andrew; Harrison, Rachel; Thomas, Sue; Howell, Anthony; Miedzybrodzka, Zosia; Murray, Alex; The FH02 Study Group; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)
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
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
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 Sciences
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 Sciences
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 Group
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 Medicine
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)
Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic
(2020-02) Keenan, Karen F; McKee, Lorna; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Epidemiology Group; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Business Management; University of Aberdeen.Grampian Data Safe Haven (DaSH)
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 Sciences
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 Sciences
Help or hindrance : young people's experiences of predictive testing for Huntington's disease
(2015-06) Keenan, Karen; McKee, Lorna; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Aberdeen Centre for Evaluation; University of Aberdeen.Epidemiology Group; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Business Management; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)
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 Sciences
How young people find out about their family history of Huntington's disease
(Elsevier, 2009-03-26) Forrest Keenan, Karen; van Teijlingen, Edwin; McKee, Lorna; Miedzybrodzka, Zosia; Simpson, Sheila A.
Family communication about adult-onset hereditary illness can be problematic, leaving some relatives inadequately informed or ignorant of their risk. Although studies have explored the barriers and facilitators in family communication about genetic risk, questions remain about when, what, how and indeed whether to tell relatives. The process of disclosure is also dependent upon the way in which genetic information is realized and understood by recipients, but research here is limited. Our paper explores young people’s experiences of finding out about a family history of the hereditary disorder Huntington’s disease (HD). In-depth interviews explored how and when young people found out, their reactions to different communication styles and any impact on family relations. We recruited young people through the North of Scotland regional genetics clinic and the Scottish Huntington’s Association (SHA). Thirtythree young people (aged 9–28) were interviewed. A qualitative analysis was undertaken which revealed four types of disclosure experiences: (1) having always been told, (2) gradually told, (3) HD was kept a secret, or (4) HD as a new diagnosis. In particular, the timing and style of disclosure from relatives, and one’s stage of awareness, were fundamental in structuring participants’ accounts. This article focuses on questions of when, how and indeed whether to tell children, and sits within a broader set of research and practice issues about what professionals and families (should) tell children about parental illness and genetic risk.
Is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus? : A case-only study and pedigree analysis
(2011-04) Cardy, Amanda H; Sharp, Linda; Torrance, Nicola; Hennekam, Raoul C; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied Medicine