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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI. Lenassi E, et al. Genet Med. 2020 Apr;22(4):745-751. doi: 10.1038/s41436-019-0722-8. Epub 2019 Dec 18. Genet Med. 2020. PMID: 31848469 Free PMC article.
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR. Sergouniotis PI, et al. Among authors: lenassi e. Am J Hum Genet. 2011 Dec 9;89(6):782-91. doi: 10.1016/j.ajhg.2011.11.004. Epub 2011 Dec 1. Am J Hum Genet. 2011. PMID: 22137173 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: lenassi e. 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.
Atypical presentation of CRB1 retinopathy.
Morarji J, Lenassi E, Black GC, Ashworth JL. Morarji J, et al. Among authors: lenassi e. Acta Ophthalmol. 2016 Sep;94(6):e513-4. doi: 10.1111/aos.12997. Epub 2016 Feb 23. Acta Ophthalmol. 2016. PMID: 26914788 Free article. No abstract available.
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium; Manson FD, Black GC. Jiman OA, et al. Among authors: lenassi e. Eur J Hum Genet. 2020 May;28(5):576-586. doi: 10.1038/s41431-019-0548-5. Epub 2019 Dec 13. Eur J Hum Genet. 2020. PMID: 31836858 Free PMC article.
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Tanner A, Chan HW, Pulido JS, Arno G, Ba-Abbad R, Jurkute N, Robson AG, Egan CA, Knight H, Calcagni A, Taylor RL, Lenassi E, Black GC, Moore AT, Michaelides M, Webster AR, Mahroo OA. Tanner A, et al. Among authors: lenassi e. Ophthalmology. 2021 Jun;128(6):952-955. doi: 10.1016/j.ophtha.2020.10.032. Epub 2020 Nov 1. Ophthalmology. 2021. PMID: 33137351 Free PMC article. No abstract available.
30 results