Publications

Stone E.M., Fingert J.H., Alward W.L.M., Polansky J.R., Nguyen T.D., Sunden S.L.F., Nishimura D, Nysteun A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC: Identification of a gene that causes primary open angle glaucoma. Science, 1997, 275:668-670.
Brown Jr J. Fingert J.H., Taylor C.M., Lake M., Sheffield V.C., Stone E.M.: Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Archives of Ophthalmology, 1997, 115:95-99.
Lam B.L., Fingert J.H., Shutt B.C., Singleton E.M., Merin L.M., Brown H.H., Sheffield V.C., Stone E.M.: Clinical and molecular characterization of a family affected with x-linked ocular albinism (OA1). Ophthalmic Genetics, 1997, 18:175-184.
Alward W.L.M., Fingert J.H., Coote M.A., Johnson A.T., Lerner F.S., Junqua D., Durcan F.J., McCartney P.J., Mackey D.A., Sheffield V.C., Stone E.M.: Clinical features associated with mutations in the chromosome 1 open angle glaucoma gene (GLC1A). New England Journal of Medicine, 1998, 338:1022-1027.
Fingert J.H., Ying L., Swiderski R.E., Nystuen A.M., Arbour N.C., Alward W.L.M., Sheffield V.C., Stone E.M.: Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Research, 1998, 8:377-384.
Kennan A.M., Mansergh F.C., Fingert J.H., Clark T.D., Ayuso C., Kenna P.F., Humphries P., Farrar G.J.: A novel Asp380Ala mutation in the GLC1A/Myocilin gene in a family with juvenile onset primary open angle glaucoma. Journal of Medical Genetics, 1998, 11:957-960.
Fingert J.H., Héon E., Liebmann J.M., Yamamoto T., Craig J.E., Rait J., Kawase K., Hoh S.T., Buys Y.M., Dickinson J., Hockey R.R., Williams-Lyn D., Trope G., Kitazawa Y., Ritch R., Mackey D.A., Alward W.L.M., Sheffield V.C., Stone E.M.: Analysis of mycilin mutations in 1703 glaucoma patients from five different populations. Human Molecular Genetics, 1999, 8:899-905.
Mellott M.L., Brown Jr J., Fingert J.H., Taylor C.M., Keech R.V., Sheffield V.C., Stone E.M.: Clinical characterization and linkage analysis of a family with congenital x-linked nystagmus and deuteranomaly. Archives of Ophthalmology, 1999, 117:1630-1633.
Simm R.M., Fingert J.H., Craig J.E., McNaught A.I., Mackey D.A.: Normal range of hearing associated with myocilin THR377MET. Ophthalmic Genetics, 1999, 20:205-207.
Williams-Lyn D., Flanagan J., Buys Y., Trope G.E., Fingert J.H., Stone E.M., Héon E: The genetic aspects of adult-onset glaucoma: A perspective from the Greater Toronto area. Canadian Journal of Ophthalmology, 2000, 35:12-17.
Swiderski R.E., Ross J.L., Fingert J.H., Clark A.F., Alward W.L.M., Stone E.M., Sheffield V.C.: Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Investigative Ophthalmology and Visual Science, 2000, 41:3420-3428.
Fingert J.H., Clark A.F., Craig J.E., Alward W.L.M., Snibson G.R., McLaughlin M., Tuttle L., Mackey D.A., Sheffield V.C., Stone E.M.: Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Investigative Ophthalmology and Visual Science, 2001, 42:145-152.
Jacobson N., Andrews M., Shepard A.R., Nishimura D., Searby C., Fingert J.H., Hageman G., Mullins R., Davidson B.L., Kwon Y.H., Alward W.L.M., Stone E.M., Clark A.F., Sheffield V.C.: Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Human Molecular Genetics, 2001, 10:117-125.
Clark A.F., Kawase K., English-Wright S., Lane D., Steely H.T., Kawase C., Yamamoto T., Kitawaza Y., Fingert J.H., Swiderski R.E., Mullins R.F., Hageman G.S., Sheffield V.C., Stone E.M.: Expression of the glaucoma gene myocilin in the human optic nerve head. Journal of the Federation of American Societies for Experimental Biology, 2001, 15:1251-1253.
Clark A.F., Steely T., Dickerson J.E., English-Wright S., Stropki K., McCartney M.D., Jacobson N., Shepard A.R., Clark J.I., Matsushima H., Peskind E., Leverenz J., Wilkinson C., Swiderski R.E., Fingert J.H., Sheffield V.C., Stone E.M.: Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Investigative Ophthalmology and Visual Science, 2001, 42:1769-1780.
Craig J.E., Baird P.N., Healey D.L., McNaught A.I., McCartney P.J., Rait J.L., Dickinson J.L., Roe L., Fingert J.H., Stone E.M., Mackey D.A.: Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A GLN268STOP mutation being an important phenotypic modifier. Ophthalmology, 2001, 108:1607-1620.
Shepard A.R., Jacobson N., Fingert J.H., Stone E.M., Sheffield V.C., Clark A.F.: Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Investigative Ophthalmology and Visual Science, 2001, 42:3173-3181.
Fingert J.H., Stone E.M., Sheffield V.C., Alward W.L.M.: Myocilin glaucoma. Survey of Ophthalmology, 2002, 47:547-561.
Alward W.L.M., Kwon Y.H., Khanna C.L., Johnson A.T., Hayreh S.S., Zimmerman M.B., Narkiewicz J., Andorf J.L., Moore P.A., Fingert J.H., Sheffield V.C., Stone E.M.: Variations in the myocilin gene in patients with open-angle glaucoma. Archives of Ophthalmology, 2002, 120:1189-1197.
Mackey D.A., Fingert J.H., Luzhansky J.Z., McCluskey P.J., Howell N., Hall A.J., Pierce A.B., Hoy J.F.: Leber’s hereditary optic neuropathy triggered by retroviral therapy for human immunodeficiency virus. Eye, 2002, 16:1-6.
Sale M.M., Craig J.E., Charlesworth J.C., FitzGerald L.M., Hanson I.M., Dickinson J.L., Mathews S.J., Heyningen V.V., Fingert J.H., Mackey D.A.: Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. Human Mutation, 2002, 20:322.
Mackey D.A., Healey D.L., Fingert J.H., Coote M.A., Wong T.L., Wilkinson C.H., McCartney P.J., Rait J.L., de Graf A.P., Stone E.M., Craig J.E.: Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Archives of Ophthalmology, 2003, 121:1172-1180
Kuehn, M.H., Fingert, J.H., Kwon, Y.H.: Retinal ganglion cell death in glaucoma: mechanisms and neuroprotective strategies. Ophthalmology Clinics of North America, 2005, 18: 383-395.
Fingert, J.H., Eliason, D.A., Phillips, N.C., Lotery, A.J., Sheffield, V.C., Stone, E.M.: A case of Stargardt disease caused by uniparental isodisomy (UPID). Archives of Ophthalmology, 2006, 124:744-745.
Fingert, J.H., Kwon, Y.H., Moore, P.A., Johnston, R.M., Kim, K.Y., Sheffield, V.C., Alward, W.L.M., Stone, E.M: The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open angle glaucoma patients from Iowa. Ophthalmic Genetics, 2006, 27: 39-41.
Grassi, M.A., Fingert, J.H., Sheetz, T.E., Roos, B.R., Ritch, R., West, S.K., Kawase, K., Shire, A.M., Mullins, R.F., Stone, E.M.: Ethnic variation in AMD-associated complement factor H polymorphism Tyr402His. Human Mutation, 2006, 27: 921-925.
Fingert, J.H., Alward, W.L.M., Kwon, Y.H., Shankar, S.P., Andorf, J.L., Mackey, D.A., Sheffield, V.C., Stone, E.M. Sequence variations in the WDR36 gene are not associated with POAG. Archives of Ophthalmology, 2007, 125: 434-436.
Hewitt, A.W., Bennett, S.L., Richards, J.E., Dimasi, D.P., Booth, A.P., Inglehearn, C., Anwar, R., Yamamoto, T., Fingert, J.H., Heon, E., Craig, J.E., Mackey, D.A. The Myocilin Gly252Arg mutation confers glaucoma of intermediate severity and in Caucasians originated from a common founder. Archives of Ophthalmology, 2007, 125: 98-104.
Hewitt, A.W., Benett, S.L., Fingert, J.H., Cooper, R.L., Stone, E.M., Craig, J.E., Mackey, D.A., The optic nerve head in Myocilin glaucoma. IOVS, 2007, 48: 238-243.
Abramhoff, M.D., Alward, W.L.M., Greenlee, E.C., Shuba, L., Kim, C.Y., Fingert, J.H., Kwon, Y.H. Automated segmentation of the optic nerve head from stereo color photographs using biologically plausible feature detectors. IOVS, 2007, 48: 1665-1673.
Fingert, J.H., Grassi, M.A., Janutka, J.C., East, J.S., Howard, J.G., Sheffield, V.C., Jacobson, D.M., Hayreh, S.S. Stone, E.M. Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree. Ophthalmic Genetics, 2007, 28: 1-7.
Fingert, J.H., Honkanen, R.A., Shankar, S.P., Affatigato, L.M., Ehlinger, M.A., Jampol, L.M., Sheffield, V.C., Stone, E.M., Alward, W.L.M. Familial cavitary optic disc anomalies: Identification of a novel genetic locus. Am J. Ophthalmol. 2007, 143: 795-800.
Honkanen, R.A., Jampol, L.M., Fingert, J.H., Moore, M., Taylor, C.M., Stone, E.M., Alward, W.L.M. A Family with autosomal dominant inheritance of cavitary optic disc anomalies and progressive optic nerve head cupping, Am J. Ophthalmol, 2007, 143: 788-794.
Hewitt, A.W., Poulsen, J.P., Alward, W.L.M., Bennet, S.L., Budde, W.M., Cooper, R.L., Craig, J.E., Fingert, J.H., Foster, P.J., Garwa-Heath, D.F., Green, C.M., Hammond, C.J., Hayreh, S.S., Jonas, J.B., Kaufman, P.L., Miller, N.R., Morgan, W.H., Newman, N.J., Quigley, H.A., Samples, J.R., Spaeth, G.L., Pesudovs, K., Mackey, D.A. Heritable features of the optic disc: A novel twin method for determining genetic significance, IOVS, 2007, 48: 2469-2475.
Fingert, J.H., Alward, W.L.M., Kwon, Y.H., Wang, K., Streb, L.M., Sheffield, V.C., Stone, E.M. LOXL1 mutations are associated with exfoliation syndrome in patients from the Midwestern United States, Am J. Ophthalmol. 2007, 144: 974-975.
Wang, W.H., NcNatt, L.G., Pang, I.H., Hellberg, P.E., Fingert, J.H., McCartney M.D., Clark, A.F., Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure. IOVS, 2008, 49: 1916-1923.
Shankar, S.P., Fingert, J.H., Carelli, V., Valentino, M.L., King, T.M., Daiger, S.P., Salomao, S.R., Berezovsky, A., Belfort, Jr., R., Braun, T.A., Sheffield, V.C., Sadun, A.A., Stone, E.M. Evidence for a novel X-linked modifier locus for Leber Hereditary Optic Neuropathy, Ophthalmic Genetics, 2008, 29: 17-24.
Shaival, S., Al-Rajhi, A., Brandt, J.D., Mannis, M.J., Roos, B.R., Sheffield, V.C., Syed, N.A., Stone, E.M., Fingert, J.H. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family, Ophthalmic Genetics, 2008, 29: 41-45.
Wang, W.H., McNatt, L.G., Hellberg, P.E., Pang, I.H., Millar, J.C., Steely, H.T., Rubin, J.S., Fingert, J.H., Sheffield, V.C., Stone, E.M., Clark, A.F. Increased Expression of the WNT Antagonist sFRP1 in Glaucoma: Presence of a Functional WNT Signaling Pathway in Trabecular Meshwork that Regulates IOP, J. Clin Invest, 2008, 118: 1056-1064.
Fingert, J.H., Oh, K., Chung, M., Scheetz, T.E., Andorf, J.L., Johnson, R.M., Sheffield, V.C., Stone, E.M. Novel mutation in the retinol dehydrogenase 12 (RDH12) gene is associated with autosomal dominant retinitis pigmentosa. Archives of Ophthalmology, 2008, 126: 1301-1307.
Hayreh, S.S., Fingert, J.H., Stone, E.M., Jacobson, D.M. Familial non-arteritic anterior ischemic optic neuropathy. Graefes Arch Clin Exp Ophthalmol, 2008, 246: 1295-1305.
Trantow C.M., Mao M., Petersen G., Alward E., Alward W.L.M., Fingert J.H., Anderson M.G. Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome. Invest Ophthalmol Vis Sci. 2009, 50: 1205-1214.
Sundaresan, P., Vijayalakshmi, P., Thompson, S., Ko, A.C., Fingert, J.H., Stone, E.M. Mutations that are a common cause of Leber congenital amaurosis in North America are rare in Southern India. Molecular Vision. 2009, 15: 1781-1787.
Kwon Y.H., Fingert J.H., Kuehn M.H., Alward W.L.M. Mechanisms of disease: Primary Open-Angle Glaucoma. N Engl J Med. 2009, 360: 1113-1124.