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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. Among authors: ramsden sc. 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.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: ramsden sc. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M; Genomics England Research Consortium; Boltshauser E, Sayer JA. Powell L, et al. Among authors: ramsden sc. Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. Brain Commun. 2021. PMID: 34423300 Free PMC article.
Correction: 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. Among authors: ramsden sc. Genet Med. 2021 Oct;23(10):2023. doi: 10.1038/s41436-020-01068-8. Genet Med. 2021. PMID: 33353976 Free PMC article. No abstract available.
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. Among authors: ramsden sc. 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.
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: ramsden sc. 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.
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