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Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.
Ko AC, Hernández J, Brinton JP, Faidley EA, Mugge SA, Mets MB, Kardon RH, Folk JC, Mullins RF, Stone EM. Ko AC, et al. Arch Ophthalmol. 2010 Dec;128(12):1590-5. doi: 10.1001/archophthalmol.2010.295. Arch Ophthalmol. 2010. PMID: 21149784 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. 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.
Copy number variations and primary open-angle glaucoma.
Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Sheffield VC, Stone EM. Davis LK, et al. Invest Ophthalmol Vis Sci. 2011 Sep 9;52(10):7122-33. doi: 10.1167/iovs.10-5606. Print 2011. Invest Ophthalmol Vis Sci. 2011. PMID: 21310917 Free PMC article.