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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H. Walsh R, et al. Among authors: mcguire kj. Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17. Genet Med. 2017. PMID: 27532257 Free PMC article.
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall M, Watkins HC; NIHR BioResource – Rare Diseases Consortium. Thomson KL, et al. Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11. Genet Med. 2019. PMID: 30531895 Free PMC article.
From Genotype to Phenotype.
Mackley M, McGuire K, Taylor J, Watkins H, Ormondroyd E. Mackley M, et al. Circ Genom Precis Med. 2018 Oct;11(10):e002316. doi: 10.1161/CIRCGEN.118.002316. Circ Genom Precis Med. 2018. PMID: 30354302 Free PMC article. Review.
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.
Harper AR, Bowman M, Hayesmoore JBG, Sage H, Salatino S, Blair E, Campbell C, Currie B, Goel A, McGuire K, Ormondroyd E, Sergeant K, Waring A, Woodley J, Kramer CM, Neubauer S, Farrall M, Watkins H, Thomson KL; HCMR Investigators. Harper AR, et al. Circ Genom Precis Med. 2020 Jun;13(3):e002783. doi: 10.1161/CIRCGEN.119.002783. Epub 2020 Mar 12. Circ Genom Precis Med. 2020. PMID: 32163302 Free PMC article.
A multicentre study of patients with Timothy syndrome.
Walsh MA, Turner C, Timothy KW, Seller N, Hares DL, James AF, Hancox JC, Uzun O, Boyce D, Stuart AG, Brennan P, Sarton C, McGuire K, Newbury-Ecob RA, Mcleod K. Walsh MA, et al. Europace. 2018 Feb 1;20(2):377-385. doi: 10.1093/europace/euw433. Europace. 2018. PMID: 28371864
Frailty and stroke thrombectomy outcomes-an observational cohort study.
Joyce N, Atkinson T, Mc Guire K, Wiggam MI, Gordon PL, Kerr EL, Patterson CE, McILmoyle J, Roberts GE, Flynn PA, Burns P, Rennie IR, Taylor Rowan M, Quinn TJ, Fearon P. Joyce N, et al. Age Ageing. 2022 Feb 2;51(2):afab260. doi: 10.1093/ageing/afab260. Age Ageing. 2022. PMID: 35150584 Free article.
Search for Daily Modulation of MeV Dark Matter Signals with DAMIC-M.
Arnquist I, Avalos N, Baxter D, Bertou X, Castelló-Mor N, Chavarria AE, Cuevas-Zepeda J, Dastgheibi-Fard A, De Dominicis C, Deligny O, Duarte-Campderros J, Estrada E, Gadola N, Gaïor R, Hossbach T, Iddir L, Kavanagh BJ, Kilminster B, Lantero-Barreda A, Lawson I, Lee S, Letessier-Selvon A, Loaiza P, Lopez-Virto A, McGuire KJ, Mitra P, Munagavalasa S, Norcini D, Paul S, Piers A, Privitera P, Robmann P, Scorza S, Settimo M, Smida R, Traina M, Vilar R, Warot G, Yajur R, Zopounidis JP; DAMIC-M Collaboration. Arnquist I, et al. Among authors: mcguire kj. Phys Rev Lett. 2024 Mar 8;132(10):101006. doi: 10.1103/PhysRevLett.132.101006. Phys Rev Lett. 2024. PMID: 38518351
First Constraints from DAMIC-M on Sub-GeV Dark-Matter Particles Interacting with Electrons.
Arnquist I, Avalos N, Baxter D, Bertou X, Castelló-Mor N, Chavarria AE, Cuevas-Zepeda J, Gutiérrez JC, Duarte-Campderros J, Dastgheibi-Fard A, Deligny O, De Dominicis C, Estrada E, Gadola N, Gaïor R, Hossbach T, Iddir L, Khalil L, Kilminster B, Lantero-Barreda A, Lawson I, Lee S, Letessier-Selvon A, Loaiza P, Lopez-Virto A, Matalon A, Munagavalasa S, McGuire KJ, Mitra P, Norcini D, Papadopoulos G, Paul S, Piers A, Privitera P, Ramanathan K, Robmann P, Settimo M, Smida R, Thomas R, Traina M, Vila I, Vilar R, Warot G, Yajur R, Zopounidis JP; DAMIC-M Collaboration. Arnquist I, et al. Among authors: mcguire kj. Phys Rev Lett. 2023 Apr 28;130(17):171003. doi: 10.1103/PhysRevLett.130.171003. Phys Rev Lett. 2023. PMID: 37172255
48 results