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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.
Afshari NA, Igo RP Jr, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW Jr, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK. Afshari NA, et al. Among authors: li yj. Nat Commun. 2017 Mar 30;8:14898. doi: 10.1038/ncomms14898. Nat Commun. 2017. PMID: 28358029 Free PMC article.
Genome-wide linkage scan in fuchs endothelial corneal dystrophy.
Afshari NA, Li YJ, Pericak-Vance MA, Gregory S, Klintworth GK. Afshari NA, et al. Among authors: li yj. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1093-7. doi: 10.1167/iovs.08-1839. Epub 2008 May 23. Invest Ophthalmol Vis Sci. 2009. PMID: 18502986 Free PMC article.
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N. Riazuddin SA, et al. Among authors: li yj. Am J Hum Genet. 2010 Jan;86(1):45-53. doi: 10.1016/j.ajhg.2009.12.001. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036349 Free PMC article.
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA. Macgregor S, et al. Among authors: li yj. Hum Mol Genet. 2010 Jul 1;19(13):2716-24. doi: 10.1093/hmg/ddq144. Epub 2010 Apr 15. Hum Mol Genet. 2010. PMID: 20395239 Free PMC article.
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA. Lu Y, et al. Among authors: li yj. PLoS Genet. 2010 May 13;6(5):e1000947. doi: 10.1371/journal.pgen.1000947. PLoS Genet. 2010. PMID: 20485516 Free PMC article.
3,625 results