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Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.
Sekimitsu S, Xiang D, Smith SL, Curran K, Elze T, Friedman DS, Foster PJ, Luo Y, Pasquale LR, Peto T, Segrè AV, Shweikh Y, Warwick A, Zhao Y, Wiggs JL, Zebardast N; UK Biobank Eye and Vision Consortium. Sekimitsu S, et al. Among authors: shweikh y. JAMA Ophthalmol. 2023 Sep 1;141(9):891-899. doi: 10.1001/jamaophthalmol.2023.3645. JAMA Ophthalmol. 2023. PMID: 37589995
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. Davidson AE, et al. Among authors: shweikh y. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853238 Free PMC article.
16 results