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ABCB6 mutations cause ocular coloboma.
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. Wang L, et al. Among authors: lu f. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226084 Free PMC article.
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
Shi Y, Qu J, Zhang D, Zhao P, Zhang Q, Tam POS, Sun L, Zuo X, Zhou X, Xiao X, Hu J, Li Y, Cai L, Liu X, Lu F, Liao S, Chen B, He F, Gong B, Lin H, Ma S, Cheng J, Zhang J, Chen Y, Zhao F, Yang X, Chen Y, Yang C, Lam DSC, Li X, Shi F, Wu Z, Lin Y, Yang J, Li S, Ren Y, Xue A, Fan Y, Li D, Pang CP, Zhang X, Yang Z. Shi Y, et al. Among authors: lu f. Am J Hum Genet. 2011 Jun 10;88(6):805-813. doi: 10.1016/j.ajhg.2011.04.022. Epub 2011 Jun 6. Am J Hum Genet. 2011. PMID: 21640322 Free PMC article.
Exome sequencing identifies ZNF644 mutations in high myopia.
Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z. Shi Y, et al. Among authors: lu f. PLoS Genet. 2011 Jun;7(6):e1002084. doi: 10.1371/journal.pgen.1002084. Epub 2011 Jun 9. PLoS Genet. 2011. PMID: 21695231 Free PMC article.
A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.
Shi Y, Gong B, Chen L, Zuo X, Liu X, Tam PO, Zhou X, Zhao P, Lu F, Qu J, Sun L, Zhao F, Chen H, Zhang Y, Zhang D, Lin Y, Lin H, Ma S, Cheng J, Yang J, Huang L, Zhang M, Zhang X, Pang CP, Yang Z. Shi Y, et al. Among authors: lu f. Hum Mol Genet. 2013 Jun 1;22(11):2325-33. doi: 10.1093/hmg/ddt066. Epub 2013 Feb 12. Hum Mol Genet. 2013. PMID: 23406873
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.
Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, Sun X, Zhu W, Li DY, Pasutto F, Yang Z. Gong B, et al. Among authors: lu f. Genet Med. 2019 Oct;21(10):2345-2354. doi: 10.1038/s41436-019-0507-0. Epub 2019 Apr 19. Genet Med. 2019. PMID: 31000793 Free article.
7,259 results