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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Among authors: arno g. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG; UCL-Exomes Consortium; Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Sergouniotis PI, et al. Among authors: arno g. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003. Am J Hum Genet. 2014. PMID: 24791901 Free PMC article.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium; Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. El-Asrag ME, et al. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983245 Free PMC article.
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR, Holder GE. Ba-Abbad R, et al. Among authors: arno g. Ophthalmology. 2016 Mar;123(3):668-71.e2. doi: 10.1016/j.ophtha.2015.09.045. Epub 2015 Nov 7. Ophthalmology. 2016. PMID: 26560832 No abstract available.
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR. Sergouniotis PI, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604. Invest Ophthalmol Vis Sci. 2015. PMID: 26720460 Free article.
The ophthalmic presentation of Hermansky-Pudlak syndrome 6.
Hull S, Arno G, Holder GE, Plagnol V, Gomez K, Liesner R, Webster AR, Moore AT. Hull S, et al. Among authors: arno g. Br J Ophthalmol. 2016 Nov;100(11):1521-1524. doi: 10.1136/bjophthalmol-2015-308067. Epub 2016 Jan 28. Br J Ophthalmol. 2016. PMID: 26823395
174 results