Webster A - Search Results

1

The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.

Simpson CL, Hysi P, Bhattacharya SS, Hammond CJ, Webster A, Peckham CS, Sham PC, Rahi JS. Simpson CL, et al. Among authors: webster a. Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4421-5. doi: 10.1167/iovs.07-0231. Invest Ophthalmol Vis Sci. 2007. PMID: 17898260

2

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS. Waseem NH, et al. Among authors: webster a. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1330-4. doi: 10.1167/iovs.06-0963. Invest Ophthalmol Vis Sci. 2007. PMID: 17325180

3

Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry-Derived Metrics in RPGR-Associated Retinopathy.

Tee JJL, Yang Y, Kalitzeos A, Webster A, Bainbridge J, Weleber RG, Michaelides M. Tee JJL, et al. Among authors: webster a. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2422-2436. doi: 10.1167/iovs.17-23739. Invest Ophthalmol Vis Sci. 2018. PMID: 29847648 Free PMC article.

4

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.

5

Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy.

Tee JJL, Yang Y, Kalitzeos A, Webster A, Bainbridge J, Michaelides M. Tee JJL, et al. Among authors: webster a. Am J Ophthalmol. 2019 Feb;198:111-123. doi: 10.1016/j.ajo.2018.10.003. Epub 2018 Oct 9. Am J Ophthalmol. 2019. PMID: 30312579 Free PMC article.

6

Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness - Evaluation of Predicting Parameters.

Müller PL, Treis T, Pfau M, Esposti SD, Alsaedi A, Maloca P, Balaskas K, Webster A, Egan C, Tufail A. Müller PL, et al. Among authors: webster a. Am J Ophthalmol. 2020 May;213:134-144. doi: 10.1016/j.ajo.2020.01.013. Epub 2020 Jan 24. Am J Ophthalmol. 2020. PMID: 31987901

7

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Among authors: webster ar. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.

8

Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.

de Carvalho ER, Robson AG, Arno G, Boon CJF, Webster AA, Michaelides M. de Carvalho ER, et al. Among authors: webster aa. Ophthalmol Retina. 2021 Feb;5(2):195-214. doi: 10.1016/j.oret.2020.07.008. Epub 2020 Jul 15. Ophthalmol Retina. 2021. PMID: 32679203 Free PMC article.

9

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: webster a. PLoS One. 2020 Apr 9;15(4):e0230587. doi: 10.1371/journal.pone.0230587. eCollection 2020. PLoS One. 2020. PMID: 32271766 Free PMC article.

10

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.

Millo T, Rivera A, Obolensky A, Marks-Ohana D, Xu M, Li Y, Wilhelm E, Gopalakrishnan P, Gross M, Rosin B, Hanany M, Webster A, Tracewska AM, Koenekoop RK, Chen R, Arno G, Schueler-Furman O, Roosing S, Banin E, Sharon D. Millo T, et al. Among authors: webster a. Genet Med. 2022 Jul;24(7):1523-1535. doi: 10.1016/j.gim.2022.03.020. Epub 2022 Apr 29. Genet Med. 2022. PMID: 35486108 Free article.

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