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CEP78 is mutated in a distinct type of Usher syndrome.
Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R. Fu Q, et al. Among authors: liu y. J Med Genet. 2017 Mar;54(3):190-195. doi: 10.1136/jmedgenet-2016-104166. Epub 2016 Sep 14. J Med Genet. 2017. PMID: 27627988 Free PMC article.
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome.
Li ZL, Chen X, Zhuang WJ, Zhao W, Liu YN, Zhang FX, Ha RS, Wu JH, Zhao C, Sheng XL. Li ZL, et al. Int J Ophthalmol. 2016 Oct 18;9(10):1403-1408. doi: 10.18240/ijo.2016.10.06. eCollection 2016. Int J Ophthalmol. 2016. PMID: 27803855 Free PMC article.
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Among authors: liu y, liu q. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967. Invest Ophthalmol Vis Sci. 2013. PMID: 23462753
PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Chen X, Rong W, Liu Y, Liu X, Pan X, Chen LJ, Zhao Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Among authors: liu y, liu x. Hum Mol Genet. 2014 Jun 1;23(11):2926-39. doi: 10.1093/hmg/ddu005. Epub 2014 Jan 12. Hum Mol Genet. 2014. PMID: 24419317
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S, Liu W, Kang X, Sheng X, Zhao C. Rong W, et al. Among authors: liu y, liu x, liu w. PLoS One. 2014 May 15;9(5):e97808. doi: 10.1371/journal.pone.0097808. eCollection 2014. PLoS One. 2014. PMID: 24831256 Free PMC article.
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