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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: zaneveld je. 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.
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R. Wang F, et al. Among authors: zaneveld je. Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24. Hum Genet. 2014. PMID: 24154662 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: zaneveld je. 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.
CGAP-align: a high performance DNA short read alignment tool.
Chen Y, Hong J, Cui W, Zaneveld J, Wang W, Gibbs R, Xiao Y, Chen R. Chen Y, et al. PLoS One. 2013 Apr 11;8(4):e61033. doi: 10.1371/journal.pone.0061033. Print 2013. PLoS One. 2013. PMID: 23593381 Free PMC article.
14 results