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112 results

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Page 1
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Musleh M, Bull A, Linton E, Liu J, Waller S, Hardcastle C, Clayton-Smith J, Sharma V, Black GC, Biswas S, Ashworth JL, Sergouniotis PI. Musleh M, et al. Among authors: sergouniotis pi. Genes (Basel). 2023 Mar 25;14(4):791. doi: 10.3390/genes14040791. Genes (Basel). 2023. PMID: 37107549 Free PMC article.
Author reply: To PMID 24480711.
Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Halford S, et al. Among authors: sergouniotis pi. Ophthalmology. 2015 Apr;122(4):e22. doi: 10.1016/j.ophtha.2014.08.041. Ophthalmology. 2015. PMID: 25797088 No abstract available.
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Halford S, et al. Among authors: sergouniotis pi. Ophthalmology. 2014 Jun;121(6):1174-84. doi: 10.1016/j.ophtha.2013.11.042. Epub 2014 Jan 28. Ophthalmology. 2014. PMID: 24480711 Free article.
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. Sergouniotis PI, et al. Ophthalmology. 2011 Aug;118(8):1661-70. doi: 10.1016/j.ophtha.2010.12.031. Epub 2011 Apr 29. Ophthalmology. 2011. PMID: 21529959
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M. Sundaram V, et al. Among authors: sergouniotis pi. Ophthalmology. 2014 Jan;121(1):234-245. doi: 10.1016/j.ophtha.2013.08.017. Epub 2013 Oct 20. Ophthalmology. 2014. PMID: 24148654 Free PMC article.
Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
Chandra A, Arno G, Williamson K, Sergouniotis PI, Preising MN, Charteris DG, Thompson DA, Holder GE, Borman AD, Davagnanam I, Webster AR, Lorenz B, FitzPatrick DR, Moore AT. Chandra A, et al. Among authors: sergouniotis pi. JAMA Ophthalmol. 2014 Aug;132(8):996-1001. doi: 10.1001/jamaophthalmol.2014.940. JAMA Ophthalmol. 2014. PMID: 24874986
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, Banin E, Hardcastle AJ, Cheetham ME, Sharon D, Webster AR. Davidson AE, et al. Among authors: sergouniotis pi. Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849777 Free PMC article.
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