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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: webster ar. Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6. Genome Med. 2018. PMID: 30526634 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: webster ar. 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.
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: webster ar. 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.
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: webster ar. 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
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT. Hull S, et al. Among authors: webster ar. Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976. Invest Ophthalmol Vis Sci. 2016. PMID: 26968735 Free article.
365 results