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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Consugar MB, et al. Among authors: wang dy. Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20. Genet Med. 2015. PMID: 25412400 Free PMC article.
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, Abdrabou W, Fan BJ, Wang DY, Brodeur W, Budenz DL, Caprioli J, Crenshaw A, Crooks K, Delbono E, Doheny KF, Friedman DS, Gaasterland D, Gaasterland T, Laurie C, Lee RK, Lichter PR, Loomis S, Liu Y, Medeiros FA, McCarty C, Mirel D, Moroi SE, Musch DC, Realini A, Rozsa FW, Schuman JS, Scott K, Singh K, Stein JD, Trager EH, Vanveldhuisen P, Vollrath D, Wollstein G, Yoneyama S, Zhang K, Weinreb RN, Ernst J, Kellis M, Masuda T, Zack D, Richards JE, Pericak-Vance M, Pasquale LR, Haines JL. Wiggs JL, et al. Among authors: wang dy. PLoS Genet. 2012;8(4):e1002654. doi: 10.1371/journal.pgen.1002654. Epub 2012 Apr 26. PLoS Genet. 2012. PMID: 22570617 Free PMC article.
Molecular diagnostics of genetic eye diseases.
Fan BJ, Tam PO, Choy KW, Wang DY, Lam DS, Pang CP. Fan BJ, et al. Among authors: wang dy. Clin Biochem. 2006 Mar;39(3):231-9. doi: 10.1016/j.clinbiochem.2005.11.010. Epub 2006 Jan 10. Clin Biochem. 2006. PMID: 16412407 Review.
1,640 results