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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. 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.
A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA; CREAM Consortium; UK Biobank Eye and Vision Consortium. Clark R, et al. EBioMedicine. 2023 May;91:104551. doi: 10.1016/j.ebiom.2023.104551. Epub 2023 Apr 11. EBioMedicine. 2023. PMID: 37055258 Free PMC article.
Reply.
Linton E, Jalil A, Sergouniotis P, Moussa G, Black G, Charles S, Ivanova T. Linton E, et al. Retina. 2023 Sep 1;43(9):e53. doi: 10.1097/IAE.0000000000003830. Retina. 2023. PMID: 37155940 No abstract available.
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Mackay DS, et al. Among authors: sergouniotis pi. Mol Vis. 2010 Mar 9;16:369-77. Mol Vis. 2010. PMID: 20300561 Free PMC article.
111 results