Browsing by Author "Klaric, Lucija"
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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 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)Item 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 Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene(2023-01-19) Kentistou, Katherine A; Luan, Jian'an; Wittemans, Laura B L; Hambly, Catherine; Klaric, Lucija; Kutalik, Zoltán; Speakman, John R; Wareham, Nicholas J; Kendall, Timothy J; Langenberg, Claudia; Wilson, James F; Joshi, Peter K; Morton, Nicholas M; University of Aberdeen.Biological Sciences; University of Aberdeen.Energetics Research Group; University of Aberdeen.Environment and Food SecurityItem 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 Whole-genome sequencing reveals host factors underlying critical COVID-19(2022-07-07) Kousathanas, Athanasios; Pairo-Castineira, Erola; Rawlik, Konrad; Stuckey, Alex; Odhams, Christopher A.; Walker, Susan; Russell, Clark D.; Malinauskas, Tomas; Wu, Yang; Millar, Jonathan; Shen, Xia; Elliott, Katherine S.; Griffiths, Fiona; Oosthuyzen, Wilna; Morrice, Kirstie; Keating, Sean; Wang, Bo; Rhodes, Daniel; Klaric, Lucija; Zechner, Marie; Parkinson, Nick; Siddiq, Afshan; Goddard, Peter; Donovan, Sally; Maslove, David; Nichol, Alistair; Semple, Malcolm G.; Zainy, Tala; Maleady-Crowe, Fiona; Todd, Linda; Salehi, Shahla; Knight, Julian; Elgar, Greg; Chan, Georgia; Arumugam, Prabhu; Patch, Christine; Rendon, Augusto; Bentley, David; Kingsley, Clare; Kosmicki, Jack A.; Horowitz, Julie E.; Baras, Aris; Abecasis, Goncalo R.; Ferreira, Manuel A.R.; Justice, Anne; Mirshahi, Tooraj; Oetjens, Matthew; Rader, Daniel J.; Ritchie, Marylyn D.; Verma, Anurag; GenOMICC investigators; 23andMe investigators; COVID-Human Genetics Initiative; Kaye, Callum; Caulfield, Mark; Baillie, J Kenneth; University of Aberdeen.Aberdeen Centre for Evaluation