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Page 1
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. PLoS One. 2020 Apr 9;15(4):e0230587. doi: 10.1371/journal.pone.0230587. eCollection 2020. PLoS One. 2020. PMID: 32271766 Free PMC article.
A foundation model for generalizable disease detection from retinal images.
Zhou Y, Chia MA, Wagner SK, Ayhan MS, Williamson DJ, Struyven RR, Liu T, Xu M, Lozano MG, Woodward-Court P, Kihara Y; UK Biobank Eye & Vision Consortium; Altmann A, Lee AY, Topol EJ, Denniston AK, Alexander DC, Keane PA. Zhou Y, et al. Nature. 2023 Oct;622(7981):156-163. doi: 10.1038/s41586-023-06555-x. Epub 2023 Sep 13. Nature. 2023. PMID: 37704728 Free PMC article.
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M; UK Inherited Retinal Disease Consortium. Arno G, et al. Among authors: pontikos n. JAMA Ophthalmol. 2016 Aug 1;134(8):924-7. doi: 10.1001/jamaophthalmol.2016.1543. JAMA Ophthalmol. 2016. PMID: 27281386
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE; UKIRDC; Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. Arno G, et al. Among authors: pontikos n. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. doi: 10.1016/j.ajhg.2016.10.008. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889058 Free PMC article.
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: pontikos n. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project. Taylor RL, et al. Among authors: pontikos n. JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046. JAMA Ophthalmol. 2017. PMID: 28253385 Free article.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium; Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF. Xu M, et al. Among authors: pontikos n. Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9. Am J Hum Genet. 2017. PMID: 28285769 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. Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147. Bioinformatics. 2017. PMID: 28334266
The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts. CONTACT: n.pontikos@ucl.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts. CONTACT: n.pontikos@ucl.ac. …
Pheno4J: a gene to phenotype graph database.
Mughal S, Moghul I, Yu J; UKIRDC; Clark T, Gregory DS, Pontikos N. Mughal S, et al. Among authors: pontikos n. Bioinformatics. 2017 Oct 15;33(20):3317-3319. doi: 10.1093/bioinformatics/btx397. Bioinformatics. 2017. PMID: 28633344
AVAILABILITY AND IMPLEMENTATION: The Java and Python code are available at https://github.com/phenopolis/pheno4j. CONTACT: n.pontikos@ucl.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
AVAILABILITY AND IMPLEMENTATION: The Java and Python code are available at https://github.com/phenopolis/pheno4j. CONTACT: n.ponti …
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B. Cipriani V, et al. Among authors: pontikos n. Ophthalmic Genet. 2017 Dec;38(6):511-519. doi: 10.1080/13816810.2017.1289544. Epub 2017 Mar 2. Ophthalmic Genet. 2017. PMID: 28635424 Free article.
152 results