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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.
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.
MAVMET trial: maraviroc and/or metformin for metabolic dysfunction-associated fatty liver disease(MAFLD) in adults with suppressed HIV.
Mccabe L, Burns JE, Latifoltojar A, Post FA, Fox J, Pool E, Waters A, Santana B, Garvey L, Johnson M, Mcguinness I, Chouhan M, Edwards J, Goodman AL, Cooke G, Murphy C, Collaco-Moraes Y, Webb H, Gregory A, Mohamed F, Rauchenberger M, Ryder SD, Sandford C, Baker JV, Angus B, Boesecke C, Orkin C, Punwani S, Clark A, Gilson R, Dunn D, Pett SL; MAVMET Study group. Mccabe L, et al. Among authors: murphy c. AIDS. 2024 May 31. doi: 10.1097/QAD.0000000000003947. Online ahead of print. AIDS. 2024. PMID: 38819839
In vivo cisplatin-resistant neuroblastoma metastatic model reveals tumour necrosis factor receptor superfamily member 4 (TNFRSF4) as an independent prognostic factor of survival in neuroblastoma.
Murphy C, Devis-Jauregui L, Struck R, Boloix A, Gallagher C, Gavin C, Cottone F, Fernandez AS, Madden S, Roma J, Segura MF, Piskareva O. Murphy C, et al. PLoS One. 2024 May 29;19(5):e0303643. doi: 10.1371/journal.pone.0303643. eCollection 2024. PLoS One. 2024. PMID: 38809883 Free PMC article.
4,778 results