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Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG; UCL-Exomes Consortium; Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Sergouniotis PI, et al. Among authors: murphy c. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003. Am J Hum Genet. 2014. PMID: 24791901 Free PMC article.
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Nunn LM, Lopes LR, Syrris P, Murphy C, Plagnol V, Firman E, Dalageorgou C, Zorio E, Domingo D, Murday V, Findlay I, Duncan A, Carr-White G, Robert L, Bueser T, Langman C, Fynn SP, Goddard M, White A, Bundgaard H, Ferrero-Miliani L, Wheeldon N, Suvarna SK, O'Beirne A, Lowe MD, McKenna WJ, Elliott PM, Lambiase PD. Nunn LM, et al. Among authors: murphy c. Europace. 2016 Jun;18(6):888-96. doi: 10.1093/europace/euv285. Epub 2015 Oct 25. Europace. 2016. PMID: 26498160 Free PMC article.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC; Plagnol V. Pontikos N, et al. Among authors: murphy c. Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147. Bioinformatics. 2017. PMID: 28334266
Phenogenon: Gene to phenotype associations for rare genetic diseases.
Pontikos N, Murphy C, Moghul I, Arno G, Fujinami K, Fujinami Y, Sumodhee D, Downes S, Webster A, Yu J; UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium. Pontikos N, et al. Among authors: murphy c. PLoS One. 2020 Apr 9;15(4):e0230587. doi: 10.1371/journal.pone.0230587. eCollection 2020. PLoS One. 2020. PMID: 32271766 Free PMC article.
MHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution.
Puttick C, Jones TP, Leung MM, Galvez-Cancino F, Liu J, Varas-Godoy M, Rowan A, Pich O, Martinez-Ruiz C, Bentham R, Dijkstra KK, Black JRM, Rosenthal R, Kanu N, Litchfield K, Salgado R, Moore DA, Van Loo P, Jamal-Hanjani M, Quezada SA; TRACERx Consortium; Swanton C, McGranahan N. Puttick C, et al. Nat Genet. 2024 Oct;56(10):2121-2131. doi: 10.1038/s41588-024-01883-8. Epub 2024 Oct 2. Nat Genet. 2024. PMID: 39358601 Free PMC article.
Born into homelessness: A retrospective observational study.
Leahy C, Murphy CA, Cullen R, Foster P, Malone FD, McCallion N, Cunningham K. Leahy C, et al. Among authors: murphy ca. Public Health Pract (Oxf). 2024 Nov 30;8:100559. doi: 10.1016/j.puhip.2024.100559. eCollection 2024 Dec. Public Health Pract (Oxf). 2024. PMID: 39720514 Free PMC article.
Methodological report of a cross-sectional survey of abortion-related knowledge, attitudes and practices amongst health professionals in Britain, strategies adopted and lessons learned: evidence from the SACHA Study.
French RS, Palmer MJ, McCarthy O, Salaria N, Meiksin R, Shawe J, Lewandowska M, Scott R, Wellings K; SACHA Study Team. French RS, et al. BMC Health Serv Res. 2024 Dec 18;24(1):1614. doi: 10.1186/s12913-024-12011-x. BMC Health Serv Res. 2024. PMID: 39695605 Free PMC article.
4,904 results