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Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, Ren H, Keser V, Lopez I, Tuan HF, Salvo JS, Wang X, Zhao L, Wang K, Li Y, Koenekoop RK, Chen R, Sui R. Fu Q, et al. Among authors: wang h, wang x, wang f, wang k. Invest Ophthalmol Vis Sci. 2013 Jun 14;54(6):4158-66. doi: 10.1167/iovs.13-11672. Invest Ophthalmol Vis Sci. 2013. PMID: 23661369 Free PMC article.
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R. Wang X, et al. Among authors: wang h, wang f, wang k. J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11. J Med Genet. 2013. PMID: 23847139 Free PMC article.
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, Xu M, Li Y, Wu F, Wen C, Bernstein PS, Lin D, Zhu S, Wang H, Zhang K, Chen R. Wang F, et al. Among authors: wang h, wang k, wang y. Invest Ophthalmol Vis Sci. 2014 Oct 14;55(11):7159-64. doi: 10.1167/iovs.14-15520. Invest Ophthalmol Vis Sci. 2014. PMID: 25316723 Free PMC article.
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, Ge Z, Wang H, Li Y, Hartnett ME, Chen R. Xu M, et al. Among authors: wang h, wang f, wang k. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3889-95. doi: 10.1167/iovs.15-16778. Invest Ophthalmol Vis Sci. 2015. PMID: 26070061 Free PMC article.
Exome capture sequencing identifies a novel mutation in BBS4.
Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Wang H, et al. Mol Vis. 2011;17:3529-40. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219648 Free PMC article.
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