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Page 1
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, Gore DM, Hafford Tear NJ, Pontikos N, Hayat S, Wareham N, Khaw KT, Tuft SJ, Foster PJ, Hysi PG. Khawaja AP, et al. Among authors: pontikos n. JAMA Ophthalmol. 2019 Sep 1;137(9):1005-1012. doi: 10.1001/jamaophthalmol.2019.2058. JAMA Ophthalmol. 2019. PMID: 31246245 Free PMC article.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Among authors: pontikos n. Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749309 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 CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. Cheong SS, et al. Among authors: pontikos n. Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839872 Free PMC article.
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.
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. …
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: pontikos n. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. Hum Mutat. 2018. PMID: 28967191
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.
Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D, Hlozanek M, Trkova M, Chojnowski JL, Hrdlickova E, Pontikos N, Plagnol V, Veselá V, Jirsova K, Hardcastle AJ, Filipec M, Lauderdale JD, Liskova P. Dudakova L, et al. Among authors: pontikos n. Stem Cell Rev Rep. 2018 Feb;14(1):148-151. doi: 10.1007/s12015-017-9780-y. Stem Cell Rev Rep. 2018. PMID: 29134474 No abstract available.
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ. Liskova P, et al. Among authors: pontikos n. Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002. Am J Hum Genet. 2018. PMID: 29499165 Free PMC article.
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: pontikos n. Mol Vis. 2018 Aug 31;24:603-612. eCollection 2018. Mol Vis. 2018. PMID: 30210231 Free PMC article.
139 results