Webster AR - Search Results

1

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: webster ar. Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147. Bioinformatics. 2017. PMID: 28334266

2

Mutations in the CACNA1F and NYX genes in British CSNBX families.

Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Zito I, et al. Among authors: webster ar. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565

3

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.

Dandekar SS, Ebenezer ND, Grayson C, Chapple JP, Egan CA, Holder GE, Jenkins SA, Fitzke FW, Cheetham ME, Webster AR, Hardcastle AJ. Dandekar SS, et al. Among authors: webster ar. Br J Ophthalmol. 2004 Apr;88(4):528-32. doi: 10.1136/bjo.2003.027979. Br J Ophthalmol. 2004. PMID: 15031171 Free PMC article.

4

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Rana NA, Ebenezer ND, Webster AR, Linares AR, Whitehouse DB, Povey S, Hardcastle AJ. Rana NA, et al. Among authors: webster ar. Hum Mol Genet. 2004 Dec 15;13(24):3089-102. doi: 10.1093/hmg/ddh337. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509594

5

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Ebenezer ND, et al. Among authors: webster ar. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

6

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.

Hornan DM, Peirson SN, Hardcastle AJ, Molday RS, Cheetham ME, Webster AR. Hornan DM, et al. Among authors: webster ar. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5388-96. doi: 10.1167/iovs.07-0355. Invest Ophthalmol Vis Sci. 2007. PMID: 18055785

7

Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy.

Saihan Z, Li Z, Rice J, Rana NA, Ramsden S, Schlottmann PG, Jenkins SA, Blyth C, Black GC, McKie N, Webster AR. Saihan Z, et al. Among authors: webster ar. Mol Vis. 2009 Jun 15;15:1218-30. Mol Vis. 2009. PMID: 19536307 Free PMC article.

8

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.

Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE. Robson AG, et al. Among authors: webster ar. Retina. 2010 Jan;30(1):51-62. doi: 10.1097/IAE.0b013e3181bfe24e. Retina. 2010. PMID: 19952985

9

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF. Towns KV, et al. Among authors: webster ar. Hum Mutat. 2010 May;31(5):E1361-76. doi: 10.1002/humu.21236. Hum Mutat. 2010. PMID: 20232351 Free article.

10

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Davidson AE, Sergouniotis PI, Burgess-Mullan R, Hart-Holden N, Low S, Foster PJ, Manson FD, Black GC, Webster AR. Davidson AE, et al. Among authors: webster ar. Mol Vis. 2010 Dec 31;16:2916-22. Mol Vis. 2010. PMID: 21203346 Free PMC article.

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