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433 results

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Page 1
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. Among authors: mcguire k. 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.
From Genotype to Phenotype.
Mackley M, McGuire K, Taylor J, Watkins H, Ormondroyd E. Mackley M, et al. Among authors: mcguire k. 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.
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. Among authors: mcguire k. 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.
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.
Ormerod JOM, Ormondroyd E, Li Y, Taylor J, Wei J, Guo W, Wang R, Sarton CNS, McGuire K, Dreau HMP, Taylor JC, Ginks MR, Rajappan K, Chen SRW, Watkins H. Ormerod JOM, et al. Among authors: mcguire k. Circ Genom Precis Med. 2022 Feb;15(1):e003589. doi: 10.1161/CIRCGEN.121.003589. Epub 2021 Dec 24. Circ Genom Precis Med. 2022. PMID: 34949103 Free 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. Among authors: mcguire k. 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.
Regulatory interactions between APOBEC3B N- and C-terminal domains.
Braza MKE, Demir Ö, Ahn SH, Morris CK, Calvó-Tusell C, McGuire KL, de la Peña Avalos B, Carpenter MA, Chen Y, Casalino L, Aihara H, Herzik MA Jr, Harris RS, Amaro RE. Braza MKE, et al. Among authors: mcguire kl. bioRxiv [Preprint]. 2024 Dec 12:2024.12.11.628032. doi: 10.1101/2024.12.11.628032. bioRxiv. 2024. PMID: 39713448 Free PMC article. Preprint.
433 results