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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 1
2010 1
2011 3
2012 5
2013 4
2014 3
2015 2
2016 2
2017 2
2019 2
2020 5
2021 3
2023 2
2024 0

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29 results

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Page 1
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.
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.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, Hardcastle C, Lopez J, Hunt SE, Short P, Sergouniotis PI, Michaelides M, Webster A, Cunningham F, Ramsden SC, Kasperaviciute D, Fitzpatrick DR; Genomics England Research Consortium; Black GC, Ellingford JM. Lenassi E, et al. J Med Genet. 2023 Aug;60(8):810-818. doi: 10.1136/jmg-2022-108618. Epub 2023 Jan 20. J Med Genet. 2023. PMID: 36669873 Free PMC article.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. Daich Varela M, et al. Among authors: lenassi e. Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. Hum Mol Genet. 2023. PMID: 36084042 Free PMC article.
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 heterogeneity in a family with mutations in USH2A.
Lenassi E, Robson AG, Luxon LM, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. JAMA Ophthalmol. 2015 Mar;133(3):352-5. doi: 10.1001/jamaophthalmol.2014.5163. JAMA Ophthalmol. 2015. PMID: 25521520 No abstract available.
29 results