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Exome-based investigation of the genetic basis of human pigmentary glaucoma.
van der Heide C, Goar W, Meyer KJ, Alward WLM, Boese EA, Sears NC, Roos BR, Kwon YH, DeLuca AP, Siggs OM, Gonzaga-Jauregui C, Sheffield VC, Wang K, Stone EM, Mullins RF, Anderson MG, Fan BJ, Ritch R, Craig JE, Wiggs JL, Scheetz TE, Fingert JH. van der Heide C, et al. Among authors: sheffield vc. BMC Genomics. 2021 Jun 26;22(1):477. doi: 10.1186/s12864-021-07782-0. BMC Genomics. 2021. PMID: 34174832 Free PMC article.
Myocilin glaucoma.
Fingert JH, Stone EM, Sheffield VC, Alward WL. Fingert JH, et al. Among authors: sheffield vc. Surv Ophthalmol. 2002 Nov-Dec;47(6):547-61. doi: 10.1016/s0039-6257(02)00353-3. Surv Ophthalmol. 2002. PMID: 12504739 Review.
Variations in the myocilin gene in patients with open-angle glaucoma.
Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Alward WL, et al. Among authors: sheffield vc. Arch Ophthalmol. 2002 Sep;120(9):1189-97. doi: 10.1001/archopht.120.9.1189. Arch Ophthalmol. 2002. PMID: 12215093
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: sheffield vc. Hum Mol Genet. 2011 Jun 15;20(12):2482-94. doi: 10.1093/hmg/ddr123. Epub 2011 Mar 29. Hum Mol Genet. 2011. PMID: 21447600 Free PMC article.
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Tucker BA, et al. Among authors: sheffield vc. Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):E569-76. doi: 10.1073/pnas.1108918108. Epub 2011 Aug 8. Proc Natl Acad Sci U S A. 2011. PMID: 21825139 Free PMC article.
361 results