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Page 1
Development of a genotyping microarray for Usher syndrome.
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Cremers FP, et al. Among authors: webster ar. J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963483 Free PMC article.
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: webster ar. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Burgess R, et al. Among authors: webster ar. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Am J Hum Genet. 2008. PMID: 18179881 Free PMC article.
Update on Usher syndrome.
Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M. Saihan Z, et al. Among authors: webster ar. Curr Opin Neurol. 2009 Feb;22(1):19-27. doi: 10.1097/wco.0b013e3283218807. Curr Opin Neurol. 2009. PMID: 19165952 Review.
Childhood-onset autosomal recessive bestrophinopathy.
Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT. Borman AD, et al. Among authors: webster ar. Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. Arch Ophthalmol. 2011. PMID: 21825197 No abstract available.
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M. Le Quesne Stabej P, et al. Among authors: webster ar. J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1. J Med Genet. 2012. PMID: 22135276 Free PMC article.
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. Ramsden SC, et al. Among authors: webster ar. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234150 Free PMC article. No abstract available.
363 results