Webster AR - Search Results

1

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

Jurkute N, Cancellieri F, Pohl L, Li CHZ, Heaton RA, Reurink J, Bellingham J, Quinodoz M, Yioti G, Stefaniotou M, Weener M, Zuleger T, Haack TB, Stingl K; Genomics England Research Consortium; Hoyng CB, Mahroo OA, Hargreaves I, Raymond FL, Michaelides M, Rivolta C, Kohl S, Roosing S, Webster AR, Arno G. Jurkute N, et al. Among authors: webster ar. NPJ Genom Med. 2022 Oct 20;7(1):60. doi: 10.1038/s41525-022-00330-z. NPJ Genom Med. 2022. PMID: 36266294 Free PMC article.

2

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Michaelides M, et al. Among authors: webster ar. Ophthalmology. 2005 Aug;112(8):1442-7. doi: 10.1016/j.ophtha.2005.02.024. Ophthalmology. 2005. PMID: 15953638

3

Residual cone vision without alpha-transducin.

Stockman A, Smithson HE, Michaelides M, Moore AT, Webster AR, Sharpe LT. Stockman A, et al. Among authors: webster ar. J Vis. 2007 Mar 23;7(4):8. doi: 10.1167/7.4.8. J Vis. 2007. PMID: 17461692 Free article.

4

Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).

Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR. Michaelides M, et al. Among authors: webster ar. Ophthalmology. 2010 Jan;117(1):120-127.e1. doi: 10.1016/j.ophtha.2009.06.011. Epub 2009 Oct 8. Ophthalmology. 2010. PMID: 19818506

5

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. Li Z, et al. Among authors: webster ar. Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878917 Free PMC article.

6

"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

7

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. Sergouniotis PI, et al. Among authors: webster ar. Br J Ophthalmol. 2012 Feb;96(2):213-7. doi: 10.1136/bjo.2011.203638. Epub 2011 May 10. Br J Ophthalmol. 2012. PMID: 21558291

8

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.

Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M. Subash M, et al. Among authors: webster ar. Br J Ophthalmol. 2012 May;96(5):719-22. doi: 10.1136/bjophthalmol-2011-300964. Epub 2011 Dec 15. Br J Ophthalmol. 2012. PMID: 22174098

9

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. Davidson AE, et al. Among authors: webster ar. Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17. Hum Mutat. 2013. PMID: 23281133

10

Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).

Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR. Soumplis V, et al. Among authors: webster ar. Acta Ophthalmol. 2013 May;91(3):e191-5. doi: 10.1111/aos.12010. Epub 2013 Jan 7. Acta Ophthalmol. 2013. PMID: 23289492 Free article.

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