John H. Fingert, MD, PhD

Portrait
The Hadley-Carver Chair in Glaucoma
Professor of Ophthalmology and Visual Sciences

Contact Information

Clinic: 11190 PFP
200 Hawkins Dr,
Iowa City, IA 52242
319-356-3938

Primary Office: 3111B MERF
375 Newton Road
Iowa City, IA 52242
319-335-7508

Education

BA, Engineering, Dartmouth College
BE, Bioengineering, Dartmouth College
MD, Medicine, University of Iowa
PhD, Molecular Genetics of Glaucoma, University of Iowa

Internship, Transitional, St. Lukes Hospital
Resident, Ophthalmology, University of Iowa
Fellow, Glaucoma, University of Iowa
Fellow, Molecular Ophthalmology, University of Iowa

Licensure and Certifications

ABO MOC Recertification
ABO Certification - American Board of Ophthalmology

Education/Training Program Affiliations

Interdisciplinary Graduate Program in Genetics, Medical Scientist Training Program

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration, Center on Aging, Institute for Clinical and Translational Science, Institute for Vision Research, Iowa Institute of Human Genetics., John and Marcia Carver Nonprofit Genetic Testing Laboratory

Research Summary

I am a board-certified ophthalmologist with fellowship training in glaucoma and I have a Ph.D. in ophthalmic genetics. My training and experience has provided me with broad clinical and laboratory expertise to investigate the genetic basis of optic nerve disease. My early research resulted in the detection of the first glaucoma gene, myocilin, and more recently my laboratory has discovered one of two known normal tension glaucoma genes, TBK1. My laboratory is currently investigating the mechanisms by which defects in genes in the autophagy pathway (TBK1, OPTN, and others) lead to normal tension glaucoma using transgenic mice, induced pluripotent stem cells, and other patient-based studies. Other major projects include genetic studies of pigmentary glaucoma, exfoliative glaucoma, dominant optic atrophy, and studies of the genetic basis of quantitative features of glaucoma (eye pressure, corneal thickness, and optic nerve cupping). These projects are part of an overall mission to investigate the genetic basis of optic nerve disease and develop sight-saving therapies for this common group of blinding diseases.

Publications

Chirco, K. R., Lewis, C. J., Scheetz, T. E., Johnston, R. M., Tucker, B. A., Stone, E. M., Fingert, J. H. & Mullins, R. F. (2018). Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism. Ophthalmic Genet, 39(1), 68-72. PMID: 28949775.

Fingert, J. H., Miller, K., Hedberg-Buenz, A., Roos, B. R., Lewis, C. J., Mullins, R. F. & Anderson, M. G. (2017). Transgenic TBK1 mice have features of normal tension glaucoma. Human molecular genetics, 26(1), 124-132. PMID: 28025332.

Miller, M. A., Fingert, J. H. & Bettis, D. I. (2017). Genetics and genetic testing for glaucoma. Current opinion in ophthalmology, 28(2), 133-138. PMID: 27898466.

Lewis, C., Hedberg-Buenz, A., DeLuca, A. P., Stone, E. M., Alward, W. L. & Fingert, J. H. (2017). Primary Congenital and Developmental Glaucomas. Hum Mol Genet, 26(R1), R28-R36. PMID: 28549150.

Simpson, A., Avdic, A., Roos, B. R., DeLuca, A., Miller, K., Schnieders, M. J., Scheetz, T. E., Alward, W. L. & Fingert, J. H. (2017). LADD syndrome with glaucoma is caused by a novel gene. Molecular vision, 23, 179-184. PMID: 28400699.

Guo, Z., Kwon, Y. H., Lee, K., Wang, K., Wahle, A., Alward, W. L., Fingert, J. H., Bettis, D. I., Johnson, C. A., Garvin, M. K., Sonka, M. & Abramoff, M. D. (2017). Optical Coherence Tomography Analysis Based Prediction of Humphrey 24-2 Visual Field Thresholds in Patients With Glaucoma. Invest Ophthalmol Vis Sci, 58(10), 3975-3985. PMID: 28796875.

Greiner, M. A., Terveen, D. C., Vislisel, J. M., Roos, B. R. & Fingert, J. H. (2017). Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene. Eye (London, England), 31(8), 1250-1252. PMID: 28387761.

Pasquale, L. R., Aschard, H., Kang, J. H., Bailey, J. N., Lindström, S., Chasman, D. I., Christen, W. G., Allingham, R. R., Ashley-Koch, A., Lee, R. K., Moroi, S. E., Brilliant, M. H., Wollstein, G., Schuman, J. S., Fingert, J., Budenz, D. L., Realini, T., Gaasterland, T., Gaasterland, D., Scott, W. K., Singh, K., Sit, A. J., Igo, Jr, R. P., Song, Y. E., Hark, L., Ritch, R., Rhee, D. J., Gulati, V., Havens, S., Vollrath, D., Zack, D. J., Medeiros, F., Weinreb, R. N., Pericak-Vance, M. A., Liu, Y., Kraft, P., Richards, J. E., Rosner, B. A., Hauser, M. A., Haines, J. L. & Wiggs, J. L. (2017). Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample. Menopause (New York, N.Y.), 24(2), 150-156. PMID: 27760082.

Chintalapudi, S. R., Maria, D., Di Wang, X., Bailey JNC,, Hysi, P. G., Wiggs, J. L., Williams, R. W. & Jablonski, M. M. (2017). Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. Nature communications, 8(1), article 1755 (12 p.). PMID: 29176626.

DeLuca, A. P., Alward, W. L., Liebmann, J., Ritch, R., Kawase, K., Kwon, Y. H., Robin, A. L., Stone, E. M., Scheetz, T. E. & Fingert, J. H. (2017). Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients. Journal of glaucoma, 26(12), 1063-1067. PMID: 28984711.

Afshari, N. A., Igo, Jr, R. P., Morris, N. J., Stambolian, D., Sharma, S., Pulagam, V. L., Dunn, S., Stamler, J. F., Truitt, B. J., Rimmler, J., Kuot, A., Croasdale, C. R., Qin, X., Burdon, K. P., Riazuddin, S. A., Mills, R., Klebe, S., Minear, M. A., Zhao, J., Balajonda, E., Rosenwasser, G. O., Baratz, K. H., Mootha, V. V., Patel, S. V., Gregory, S. G., Bailey-Wilson, J. E., Price, M. O., Price, Jr, F. W., Craig, J. E., Fingert, J. H., Gottsch, J. D., Aldave, A. J., Klintworth, G. K., Lass, J. H., Li, Y. J. & Iyengar, S. K. (2017). Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nature communications, 8, 14898. PMID: 28358029.

Jain, A., Zode, G., Kasetti, R. B., Ran, F. A., Yan, W., Sharma, T. P., Bugge, K., Searby, C. C., Fingert, J. H., Zhang, F., Clark, A. F. & Sheffield, V. C. (2017). CRISPR-Cas9-based treatment of myocilin-associated glaucoma. Proc Natl Acad Sci U S A, 114(42), 11199-11204. PMID: 28973933.

Aschard, H., Kang, J. H., Iglesias, A. I., Hysi, P., Cooke Bailey, J. N., Khawaja, A. P., Allingham, R. R., Ashley-Koch, A., Lee, R. K., Moroi, S. E., Brilliant, M. H., Wollstein, G., Schuman, J. S., Fingert, J. H., Budenz, D. L., Realini, T., Gaasterland, T., Scott, W. K., Singh, K., Sit, A. J., Igo, Jr., R. P., Song, Y. E., Hark, L., Ritch, R., Rhee, D. J., Gulati, V., Haven, S., Vollrath, D., Zack, D. J., Medeiros, F., Weinreb, R. N., Cheng, C. Y., Chasman, D. I., Christen, W. G., Pericak-Vance, M. A., Liu, Y., Kraft, P., Richards, J. E., Rosner, B. A., Hauser, M. A., International Glaucoma Genetics, Consortium,, Klaver, C. C., vanDuijn, C. M., Haines, J., Wiggs, J. L. & Pasquale, L. R. (2017). Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis. Eur J Hum Genet, 25(11), 1261-1267. PMID: 28853718.

Kader, M. A., Namburi, P., Ramugade, S., Ramakrishnan, R., Krishnadas, S. R., Roos, B. R., Periasamy, S., Robin, A. L. & Fingert, J. H. (2017). Clinical and genetic characterization of a large primary open angle glaucoma pedigree. Ophthalmic genetics, 38(3), 222-225. PMID: 27355837.

Aung, T., Ozaki, M., Lee, M. C., Schlötzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, Jr, R. P., Haripriya, A., Williams, S. E., Astakhov, Y. S., Orr, A. C., Burdon, K. P., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey JNC,, Cherecheanu, A. P., Kang, J. H., Nelson, S., Hayashi, K., Manabe, S. I., Kazama, S., Zarnowski, T., Inoue, K., Irkec, M., Coca-Prados, M., Sugiyama, K., Järvelä, I., Schlottmann, P., Lerner, S. F., Lamari, H., Nilgün, Y., Bikbov, M., Park, K. H., Cha, S. C., Yamashiro, K., Zenteno, J. C., Jonas, J. B., Kumar, R. S., Perera, S. A., Chan ASY,, Kobakhidze, N., George, R., Vijaya, L., Do, T., Edward, D. P., de Juan Marcos, L., Pakravan, M., Moghimi, S., Ideta, R., Bach-Holm, D., Kappelgaard, P., Wirostko, B., Thomas, S., Gaston, D., Bedard, K., Greer, W. L., Yang, Z., Chen, X., Huang, L., Sang, J., Jia, H., Jia, L., Qiao, C., Zhang, H., Liu, X., Zhao, B., Wang, Y. X., Xu, L., Leruez, S., Reynier, P., Chichua, G., Tabagari, S., Uebe, S., Zenkel, M., Berner, D., Mossböck, G., Weisschuh, N., Hoja, U., Welge-Luessen, U. C., Mardin, C., Founti, P., Chatzikyriakidou, A., Pappas, T., Anastasopoulos, E., Lambropoulos, A., Ghosh, A., Shetty, R., Porporato, N., Saravanan, V., Venkatesh, R., Shivkumar, C., Kalpana, N., Sarangapani, S., Kanavi, M. R., Beni, A. N., Yazdani, S., Lashay, A., Naderifar, H., Khatibi, N., Fea, A., Lavia, C., Dallorto, L., Rolle, T., Frezzotti, P., Paoli, D., Salvi, E., Manunta, P., Mori, Y., Miyata, K., Higashide, T., Chihara, E., Ishiko, S., Yoshida, A., Yanagi, M., Kiuchi, Y., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Aihara, M., Inatani, M., Miyake, M., Gotoh, N., Matsuda, F., Yoshimura, N., Ikeda, Y., Ueno, M., Sotozono, C., Jeoung, J. W., Sagong, M., Park, K. H., Ahn, J., Cruz-Aguilar, M., Ezzouhairi, S. M., Rafei, A., Chong, Y. F., Ng, X. Y., Goh, S. R., Chen, Y., Yong VHK,, Khan, M. I., Olawoye, O. O., Ashaye, A. O., Ugbede, I., Onakoya, A., Kizor-Akaraiwe, N., Teekhasaenee, C., Suwan, Y., Supakontanasan, W., Okeke, S., Uche, N. J., Asimadu, I., Ayub, H., Akhtar, F., Kosior-Jarecka, E., Lukasik, U., Lischinsky, I., Castro, V., Grossmann, R. P., Megevand, G. S., Roy, S., Dervan, E., Silke, E., Rao, A., Sahay, P., Fornero, P., Cuello, O., Sivori, D., Zompa, T., Mills, R. A., Souzeau, E., Mitchell, P., Wang, J. J., Hewitt, A. W., Coote, M., Crowston, J. G., Astakhov, S. Y., Akopov, E. L., Emelyanov, A., Vysochinskaya, V., Kazakbaeva, G., Fayzrakhmanov, R., Al-Obeidan, S. A., Owaidhah, O., Aljasim, L. A., Chowbay, B., Foo, J. N., Soh, R. Q., Sim, K. S., Xie, Z., Cheong AWO,, Mok, S. Q., Soo, H. M., Chen, X. Y., Peh, S. Q., Heng, K. K., Husain, R., Ho, S. L., Hillmer, A. M., Cheng, C. Y., Escudero-Domínguez, F. A., González-Sarmiento, R., Martinon-Torres, F., Salas, A., Pathanapitoon, K., Hansapinyo, L., Wanichwecharugruang, B., Kitnarong, N., Sakuntabhai, A., Nguyn, H. X., Nguyn GTT,, Nguyn, T. V., Zenz, W., Binder, A., Klobassa, D. S., Hibberd, M. L., Davila, S., Herms, S., Nöthen, M. M., Moebus, S., Rautenbach, R. M., Ziskind, A., Carmichael, T. R., Ramsay, M., Álvarez, L., García, M., González-Iglesias, H., Rodríguez-Calvo, P. P., Fernández-Vega Cueto, L., Oguz, Ç., Tamcelik, N., Atalay, E., Batu, B., Aktas, D., Kasim, B., Wilson, M. R., Coleman, A. L., Liu, Y., Challa, P., Herndon, L., Kuchtey, R. W., Kuchtey, J., Curtin, K., Chaya, C. J., Crandall, A., Zangwill, L. M., Wong, T. Y., Nakano, M., Kinoshita, S., den Hollander, A. I., Vesti, E., Fingert, J. H., Lee, R. K., Sit, A. J., Shingleton, B. J., Wang, N., Cusi, D., Qamar, R., Kraft, P., Pericak-Vance, M. A., Raychaudhuri, S., Heegaard, S., Kivelä, T., Reis, A., Kruse, F. E., Weinreb, R. N., Pasquale, L. R., Haines, J. L., Thorsteinsdottir, U., Jonasson, F., Allingham, R. R., Milea, D., Ritch, R., Kubota, T., Tashiro, K., Vithana, E. N., Micheal, S., Topouzis, F., Craig, J. E., Dubina, M., Sundaresan, P., Stefansson, K., Wiggs, J. L., Pasutto, F. & Khor, C. C. (2017). Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature genetics, 49(7), 993-1004. PMID: 28553957.

Scheetz, T. E., Roos, B. R., Solivan-Timpe, F., Miller, K., DeLuca, A. P., Stone, E. M., Kwon, Y. H., Alward, W. L., Wang, K. & Fingert, J. H. (2016). SQSTM1 Mutations and Glaucoma. PloS one, 11(6), e0156001. PMID: 27275741.

Liu, Y., Bailey, J. C., Helwa, I., Dismuke, W. M., Cai, J., Drewry, M., Brilliant, M. H., Budenz, D. L., Christen, W. G., Chasman, D. I., Fingert, J. H., Gaasterland, D., Gaasterland, T., Gordon, M. O., Igo, Jr, R. P., Kang, J. H., Kass, M. A., Kraft, P., Lee, R. K., Lichter, P., Moroi, S. E., Realini, A., Richards, J. E., Ritch, R., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Song, Y. E., Vollrath, D., Weinreb, R., Medeiros, F., Wollstein, G., Zack, D. J., Zhang, K., Pericak-Vance, M. A., Gonzalez, P., Stamer, W. D., Kuchtey, J., Kuchtey, R. W., Allingham, R. R., Hauser, M. A., Pasquale, L. R., Haines, J. L. & Wiggs, J. L. (2016). A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium. Investigative ophthalmology & visual science, 57(10), 3974-81. PMID: 27537254.

Bailey, J. N., Loomis, S. J., Kang, J. H., Allingham, R. R., Gharahkhani, P., Khor, C. C., Burdon, K. P., Aschard, H., Chasman, D. I., Igo, Jr, R. P., Hysi, P. G., Glastonbury, C. A., Ashley-Koch, A., Brilliant, M., Brown, A. A., Budenz, D. L., Buil, A., Cheng, C. Y., Choi, H., Christen, W. G., Curhan, G., De Vivo, I., Fingert, J. H., Foster, P. J., Fuchs, C., Gaasterland, D., Gaasterland, T., Hewitt, A. W., Hu, F., Hunter, D. J., Khawaja, A. P., Lee, R. K., Li, Z., Lichter, P. R., Mackey, D. A., McGuffin, P., Mitchell, P., Moroi, S. E., Perera, S. A., Pepper, K. W., Qi, Q., Realini, T., Richards, J. E., Ridker, P. M., Rimm, E., Ritch, R., Ritchie, M., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Song, Y. E., Tamimi, R. M., Topouzis, F., Viswanathan, A. C., Verma, S. S., Vollrath, D., Wang, J. J., Weisschuh, N., Wissinger, B., Wollstein, G., Wong, T. Y., Yaspan, B. L., Zack, D. J., Zhang, K., Study, E. N., Weinreb, R. N., Pericak-Vance, M. A., Small, K., Hammond, C. J., Aung, T., Liu, Y., Vithana, E. N., MacGregor, S., Craig, J. E., Kraft, P., Howell, G., Hauser, M. A., Pasquale, L. R., Haines, J. L. & Wiggs, J. L. (2016). Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nature genetics, 48(2), 189-94. PMID: 26752265.

Zarei, K., Scheetz, T. E., Christopher, M., Miller, K., Hedberg-Buenz, A., Tandon, A., Anderson, M. G., Fingert, J. H. & Abràmoff, M. D. (2016). Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ. Scientific Reports, 6, 26559. PMID: 27226405.

Fingert, J. H., Robin, A. L., Scheetz, T. E., Kwon, Y. H., Liebmann, J. M., Ritch, R. & Alward, W. L. (2016). Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis). Transactions of the American Ophthalmological Society, 114, T6. PMID: 27881886.

Khawaja, A. P., Cooke Bailey, J. N., Kang, J. H., Allingham, R. R., Hauser, M. A., Brilliant, M., Budenz, D. L., Christen, W. G., Fingert, J., Gaasterland, D., Gaasterland, T., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Medeiros, F., Moroi, S. E., Richards, J. E., Realini, T., Ritch, R., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G., Zack, D. J., Zhang, K., Pericak-Vance, M., Weinreb, R. N., Haines, J. L., Pasquale, L. R. & Wiggs, J. L. (2016). Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses. Invest Ophthalmol Vis Sci, 57(11), 5046-5052. PMID: 27661856.

Khor, C. C., 229 total authors including, & Fingert, et all, J. H. (2016). Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature Genetics, 48(5), 556-62. PMID: 27064256.

Small, K. W., DeLuca, A. P., Whitmore, S. S., Rosenberg, T., Silva-Garcia, R., Udar, N., Puech, B., Garcia, C. A., Rice, T. A., Fishman, G. A., Héon, E., Folk, J. C., Streb, L. M., Haas, C. M., Wiley, L. A., Scheetz, T. E., Fingert, J. H., Mullins, R. F., Tucker, B. A. & Stone, E. M. (2016). North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology, 123(1), 9-18. PMID: 26507665.

Chirco, K. R., Hazlewood, R. J., Miller, K., Workalemahu, G., Jampol, L. M., Lesser, G. R., Mullins, R. F., Kuehn, M. H. & Fingert, J. H. (2016). MMP19 expression in the human optic nerve. Molecular vision, 22, 1429-1436. PMID: 28003733.

Risma, J. M., Tehrani, S., Wang, K., Fingert, J. H., Alward, W. L. & Kwon, Y. H. (2016). The Utility of Diaton Tonometer Measurements in Patients With Ocular Hypertension, Glaucoma, and Glaucoma Tube Shunts. Journal of Glaucoma, 25(8), 643-647. PMID: 26950582.

Scheetz, T. E., Faga, B., Ortega, L., Roos, B. R., Gordon, M. O., Kass, M. A., Wang, K. & Fingert, J. H. (2016). Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study. Ophthalmology, 123(12), 2527-2536. PMID: 27707548.

Klionsky, C. C., 2,466 additional authors including, & Fingert, J. H. (2016). Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy, 12(1), 1-222. PMID: 26799652.

Pasquale, L. R., Borrás, T., Fingert, J. H., Wiggs, J. L. & Ritch, R. (2016). Exfoliation syndrome: assembling the puzzle pieces. Acta Ophthalmologica, 94(6), e505-e512. DOI: 10.1111/aos.12918.

Zarei, K., Scheetz, T. E., Christopher, M., Miller, K., Hedberg-Buenz, A., Tandon, A., Anderson, M. G., Fingert, J. H. & Abràmoff, M. D. (2016). Corrigendum: Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ. Scientific Reports, 6, 34124. PMID: 27759018.

Awadalla, M. S., Fingert, J. H., Roos, B. E., Chen, S., Holmes, R., Graham, S. L., Chehade, M., Galanopolous, A., Ridge, B., Souzeau, E., Zhou, T., Siggs, O. M., Hewitt, A. W., Mackey, D. A., Burdon, K. P. & Craig, J. E. (2015). Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma. American journal of ophthalmology, 159(1), 124-30.e1. PMID: 25284765.

Hazlewood, R. J., Roos, B. R., Solivan-Timpe, F., Honkanen, R. A., Jampol, L. M., Gieser, S. C., Meyer, K. J., Mullins, R. F., Kuehn, M. H., Scheetz, T. E., Kwon, Y. H., Alward, W. L., Stone, E. M. & Fingert, J. H. (2015). Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. Human mutation, 36(3), 369-78. PMID: 25581579.

Munk, M. R., Simjanoski, E., Fingert, J. H. & Jampol, L. M. (2015). Enhanced depth imaging optical coherence tomography of congenital cavitary optic disc anomaly (CODA). British journal of ophthalmology, 99(4), 549-55. PMID: 25359902.

Christopher, M., Abràmoff, M. D., Tang, L., Gordon, M. O., Kass, M. A., Budenz, D. L., Fingert, J. H. & Scheetz, T. E. (2015). Stereo Photo Measured ONH Shape Predicts Development of POAG in Subjects With Ocular Hypertension. Investigative Opthalmology & Visual Science, 56(8), 4470. PMID: 26193923.

Aung, T., Ozaki, M., Mizoguchi, T., Allingham, R. R., Li, Z., Haripriya, A., Nakano, S., Uebe, S., Harder, J. M., Chan, A. S., Lee, M. C., Burdon, K. P., Astakhov, Y. S., Abu-Amero, K. K., Zenteno, J. C., Nilgün, Y., Zarnowski, T., Pakravan, M., Safieh, L. A., Jia, L., Wang, Y. X., Williams, S., Paoli, D., Schlottmann, P. G., Huang, L., Sim, K. S., Foo, J. N., Nakano, M., Ikeda, Y., Kumar, R. S., Ueno, M., Manabe, S., Hayashi, K., Kazama, S., Ideta, R., Mori, Y., Miyata, K., Sugiyama, K., Higashide, T., Chihara, E., Inoue, K., Ishiko, S., Yoshida, A., Yanagi, M., Kiuchi, Y., Aihara, M., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Matsuda, F., Yamashiro, K., Gotoh, N., Miyake, M., Astakhov, S. Y., Osman, E. A., Al-Obeidan, S. A., Owaidhah, O., Al-Jasim, L., Shahwan, S. A., Fogarty, R. A., Leo, P., Yetkin, Y., Oguz, Ç., Kanavi, M. R., Beni, A. N., Yazdani, S., Akopov, E. L., Toh, K. Y., Howell, G. R., Orr, A. C., Goh, Y., Meah, W. Y., Peh, S. Q., Kosior-Jarecka, E., Lukasik, U., Krumbiegel, M., Vithana, E. N., Wong, T. Y., Liu, Y., Koch, A. E., Challa, P., Rautenbach, R. M., Mackey, D. A., Hewitt, A. W., Mitchell, P., Wang, J. J., Ziskind, A., Carmichael, T., Ramakrishnan, R., Narendran, K., Venkatesh, R., Vijayan, S., Zhao, P., Chen, X., Guadarrama-Vallejo, D., Cheng, C. Y., Perera, S. A., Husain, R., Ho, S. L., Welge-Luessen, U. C., Mardin, C., Schloetzer-Schrehardt, U., Hillmer, A. M., Herms, S., Moebus, S., Nöthen, M. M., Weisschuh, N., Shetty, R., Ghosh, A., Teo, Y. Y., Brown, M. A., Lischinsky, I., Crowston, J. G., Coote, M., Zhao, B., Sang, J., Zhang, N., You, Q., Vysochinskaya, V., Founti, P., Chatzikyriakidou, A., Lambropoulos, A., Anastasopoulos, E., Coleman, A. L., Wilson, M. R., Rhee, D. J., Kang, J. H., May-Bolchakova, I., Heegaard, S., Mori, K., Alward, W. L., Jonas, J. B., Xu, L., Liebmann, J. M., Chowbay, B., Schaeffeler, E., Schwab, M., Lerner, F., Wang, N., Yang, Z., Frezzotti, P., Kinoshita, S., Fingert, J. H., Inatani, M., Tashiro, K., Reis, A., Edward, D. P., Pasquale, L. R., Kubota, T., Wiggs, J. L., Pasutto, F., Topouzis, F., Dubina, M., Craig, J. E., Yoshimura, N., Sundaresan, P., John, S. W., Ritch, R., Hauser, M. A. & Khor, C. C. (2015). A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nature genetics, 47(4), 387-92. PMID: 25706626.

Kang, J. H., Loomis, S. J., Yaspan, B. L., Bailey, J. C., Weinreb, R. N., Lee, R. K., Lichter, P. R., Budenz, D. L., Liu, Y., Realini, T., Gaasterland, D., Friedman, D. S., McCarty, C. A., Moroi, S. E., Olson, L., Schuman, J. S., Singh, K., Vollrath, D., Wollstein, G., Zack, D. J., Brilliant, M., Sit, A. J., Christen, W. G., Fingert, J. H., Forman, J. P., Buys, E. S., Kraft, P., Zhang, K., Allingham, R. R., Pericak-Vance, M. A., Richards, J. E., Hauser, M. A., Haines, J. L., Wiggs, J. L. & Pasquale, L. R. (2014). Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma. Eye, 28(6), 662-71. PMID: 24603425.

Ulmer Carnes, M., Liu, Y. P., Allingham, R. R., Whigham, B. T., Havens, S., Garrett, M. E., Qiao, C., Katsanis, N., Wiggs, J. L., Pasquale, L. R., Ashley-Koch, A., Oh, E. C., Hauser, M. A., Allingham, R. R., Brilliant, M., Budenz, D. L., Chin, H. R., Cooke Bailey, J., Fingert, J., Friedman, D. S., Gaasterland, D., Gaasterland, T., Haines, J., Hauser, M. A., Kang, J. H., Lee, R. K., Lichter, P. R., Liu, Y., Loomis, S., McCarty, C. E., Moroi, S. E., Pasquale, L. R., Pericak-Vance, M., Realini, A., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit A, A., Vollrath, D., Weinreb, R. N., Wiggs, J. L., Wollstein, G., Yaspan, B. L., Zack, D. & Zhang, K. (2014). Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma. PLoS Genetics, 10(5), e1004372. PMID: 24875647.

Loomis, S. J., Kang, J. H., Weinreb, R. N., Yaspan, B. L., Cooke Bailey, J. N., Gaasterland, D., Gaasterland, T., Lee, R. K., Lichter, P. R., Budenz, D. L., Realini, T., Friedman, D. S., McCarty, C. A., Moroi, S. E., Olson, L., Schuman, J. S., Singh, K., Vollrath, D., Wollstein, G., Zack, D. J., Brilliant, M., Sit, A. J., Christen, W. G., Fingert, J. H., Kraft, P., Zhang, K., Allingham, R. R., Pericak-Vance, M. A., Richards, J. E., Hauser, M. A., Haines, J. L., Pasquale, L. R. & Wiggs, J. L. (2014). Association of CAV1/CVA2 Genomic Variants with Primary Open-Angle Glaucoma Overall and by Gender and Pattern of Visual Field Loss. Ophthalmology, 121(2), 508-16. PMID: 24572674.

Christopher, M., Tang, L., Fingert, J. H., Scheetz, T. E. & Abramoff, M. D. (2014). Automated discovery of structural features of the optic nerve head on the basis of image and genetic data. Proc SPIE, 9035, 90350S. DOI: doi: 10.1117/12.2043798.

Tucker, B. A., Solivan-Timpe, F., Roos, B. R., Anfinson, K. R., Robin, A. L., Wiley, L. A., Mullins, R. F. & Fingert, J. H. (2014). Duplication of TBK1 Stimulates Autophagy in iPSC-derived Retinal Cells from a Patient with Normal Tension Glaucoma. Journal of stem cell research & therapy, 3(5), 161. PMID: 24883232.

Tandon, A., Tehrani, S., Greiner, M. A., Fingert, J. H. & Alward, W. L. (2014). Thin Central Corneal Thickness and Early-Onset Glaucoma in Lacrimo-auriculo-dento-digital Syndrome. JAMA Ophthalmology, 132(6), 782-84. PMID: 24921174.

Liu, Y., Garrett, M. E., Yaspan, B. L., Bailey, J. C., Loomis, S. J., Brilliant, M., Budenz, D. L., Christen, W. G., Fingert, J. H., Gaasterland, D., Gaasterland, T., Kang, J. H., Lee, R. K., Lichter, P., Moroi, S. E., Realini, A., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Weinreb, R., Wollstein, G., Zack, D. J., Zhang, K., Pericak-Vance, M. A., Haines, J. L., Pasquale, L. R., Wiggs, J. L., Allingham, R. R., Ashley-Koch, A. E. & Hauser, M. A. (2014). DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. Investigative ophthalmology & visual science, 55(12), 8251-8. PMID: 25414181.

John, S. W., Harder, J. M., Fingert, J. H. & Anderson, M. G. (2014). Animal models of exfoliation syndrome, now and future. Journal of glaucoma, 23(8 Suppl 1), S68-72. PMID: 25275912.

Fingert, J. H., Darbro, B. W., Qian, Q., Van Rheeden, R., Miller, R., Riker, M., Solivan-Timpe, F., Roos, B. R., Robin, A. L. & Mullins, R. F. (2014). TBK1 and Flanking Genes in Human Retina. Ophthalmic Genetics, 35(1), 35-40. PMID: 23421332.

Ritch, R., Darbro, B., Menon, G., Khanna, C. L., Solivan-Timpe, F., Roos, B. R., Sarfarzi, M., Kawase, K., Yamamoto, T., Robin, A. L., Lotery, A. J. & Fingert, J. H. (2014). TBK1 Gene Duplication and Normal-Tension Glaucoma. JAMA Ophthalmology, 132(5), 544-8. PMID: 24699864.

Fingert, J. H., Burden, J. H., Wang, K., Kwon, Y. H., Alward, W. L. & Anderson, M. G. (2013). Circumferential iris transillumination defects in exfoliation syndrome. J Glaucoma, 22(7), 555-8. PMID: 22525123.

Novak, C. L., Christopher, M., Tang, L., Fingert, J. H., Scheetz, T. E., Abramoff, M. D. & Alward, S. (2013). Changes in quantitative 3D shape features of the optic nerve head associated with age. Proc SPIE Medical Imaging 2013: Computer-Aided Diagnosis, 8670, 867000. DOI: doi: 10.1117/12.2006908.

Gupta, V., Srivastava, R. M., Rao, A., Mittal, M. & Fingert, J. (2013). Clinical correlates to the goniodysgensis among juvenile-onset primary open-angle glaucoma patients. Graefes Arch Clin Exp Ophthalmol, 251(6), 1571-6. PMID: 23358655.

Seo, S., Solivan-Timpe, F., Roos, B. R., Robin, A. L., Stone, E. M., Kwon, Y. H., Alward, W. L. & Fingert, J. H. (2013). Identification of proteins that interact with TANK Binding kinase 1 (TBK1) and testing for mutations associated with glaucoma. Current Eye Research, 38(2), 310-5. PMID: 23286385.

Bhattacharya, S. K., Lee, R. K., Grus, F. H. & Seventh ARVO/Pfizer Ophthalmics Research Institute Conference Working Group (2013). Molecular biomarkers in glaucoma. Invest Ophthalmol Vis Sci, 54(1), 121-31. PMID: 23297392.

Pasquale, L. R., Loomis, S. J., Weinreb, R. N., Kang, J. H., Yaspan, B. L., Bailey, J. C., Gaasterland, D., Gaasterland, T., Lee, R. K., Scott, W. K., Lichter, P. R., Budenz, D. L., Liu, Y., Realini, T., Friedman, D. S., McCarthy, C. A., Moroi, S. E., Olson, L., Schuman, J. S., Singh, K., Vollrath, D., Wollstein, G., Zack, D. J., Brilliant, M., Sit, A. J., Christen, W. G., Fingert, J., Kraft, P., Zhang, K., Allingham, R. R., Pericak-Vance, M. A., Richards, J. E., Hauser, M. A., Haines, J. L. & Wiggs, J. L. (2013). Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States. Molecular Vision, 12(19), 1471-81. PMID: 23869166.

Scheetz, T. E., Fingert, J. H., Wang, K., Kuehn, M. H., Knudtson, K. L., Alward, W. L., Boldt, H., Russell, S. R., Folk, J. C., Casavant, T. L., Braun, T., Clark, A. F., Stone, E. M. & Sheffield, V. (2013). A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel loci. PLoS One, 8(3), e58657. PMID: 23536807.

Stamler, J. F., Roos, B. R., Wagoner, M. D., Goins, K. M., Kitzmann, A. S., Riley, J. B., Stone, E. M. & Fingert, J. H. (2013). Confirmation of the association between the TCF4 risk allele and Fuchs Endothelial Corneal Dystrophy (FECD) in patients from the Midwestern United States. Ophthalmic Genetics, 34(1-2), 32-4. PMID: 22998502.

Mahajan, V. B., Skeie, J. M., Bassuk, A. G., Fingert, J. H., Braun, T. A., Daggett, H. T., Folk, J. C., Sheffield, V. C. & Stone, E. M. (2012). Calpain-5 mutations cause autoimmune uveitis, retinal neovacularization, and photoreceptor degeneration. PLoS Genet, 8(10), e1003001. PMID: 23055945.

Kawase, K., Allingham, R. R., Meguro, A., Mizuki, N., Roos, B. R., Solivan-Timpe, F. M., Robin, A. L., Ritch, R. & Fingert, J. H. (2012). Confirmation of TBK1 duplication in normal tension glaucoma. Experimental Eye Research, 96(1), 178-180. PMID: 22306015.

Wang, K., Fingert, J. H. (2012). Statistical tests for detecting rare variants using variance-stabilizing transformations. Ann Hum Genet, 76(5), 402-9. PMID: 22724536.

Fingert, J. H. Heredity and Glaucoma. In E. Jaeger (Eds.) Duane’s Clinical Ophthalmology. New York City: Wolter Kluwer Health – LWW.

Fingert, J. H., Roos, B. R., Solivan-Timpe, F., Miller, K., Oetting, T. A., Wang, K., Scheetz, T. E., Stone, E. M. & Alward, W. L. (2012). Analysis of ASB10 variants in open angle glaucoma. Human Molecular Genetics, 21(20), 4543-4548. PMID: 22798626.

Mao, M., Solivan-Timpe, F., Roos, B. R., Mullins, R. F., Oetting, T. A., Kwon, Y. H., Brzeskiweicz, P. M., Stone, E. M., Alward, W. L., Anderson, M. G. & Fingert, J. H. (2012). Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. Mol Vis, 18, 705-13. PMID: 22509100.

Mullins, R. F., Skeie, J. M., Folk, J. C., Solivan-Timpe, F. M., Oetting, T. A., Huang, J., Wang, K., Stone, E. M. & Fingert, J. H. (2011). Evaluation of variants in the selectin genes in age-related macular degeneration. BMC medical genetics, 12(1), 58. PMID: 21521525.

Stamler, J. F., Fingert, J. H. (2011). The Molecular genetics of corneal disease. In Krachmer , Mannis , Holland (Eds.) Cornea, Chapter 12. (3) Philadelphia: Elsevier Science Inc.

Trantow, C. M., Cuffy, T. L., Fingert, J. H., Kuehn, M. H. & Anderson, M. G. (2011). Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Invest Ophthalmol Vis Sci, 52(1), 237-48. PMID: 20739468.

Fingert, J. H. (2011). Primary Open Angle Glaucoma Genes. Eye (Lond), 25(5), 587-595. PMID: 21562585.

Stamler, J. F., Fingert, J. H. (2011). Molecular Genetics of Corneal Disease. (Chapter 12). In J. H. Krachmer , M. J. Mannis , E. J. Holland (Eds.) Cornea. (3), pp. 149-60. St Louis: Mosby.

Davis, L. K., Meyer, K. J., Schindler, E. I., Beck, J. S., Rudd, D. S., Grundstad, A. J., Scheetz, T. E., Braun, T. A., Fingert, J. H., Alward, W. L., Kwon, Y. H., Folk, J. C., Russell, S. R., Wassink, T. H., Sheffield, V. C. & Stone, E. M. (2011). Copy number variations and primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 52(10), 7122-33. PMID: 21310917.

Kuehn, M. H., Wang, K., Roos, B., Stone, E. M., Kwon, Y. H., Alward, W. L., Mullins, R. F. & Fingert, J. H. (2011). Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Mol Vis, 17, 430-5. PMID: 21321670.

Rogers, G. M., Alward, W. L. & Fingert, J. H. (2011). Plateau Iris. EyeRounds.org.

Fingert, J. H., Robin, A. L., Stone, J. L., Roos, B., Davis, L. K., Scheetz, T. E., Bennett, S. R., Wassink, T. H., Kwon, Y. H., Alward, W. L., Mullins, R. F., Sheffield, V. & Stone, E. M. (2011). Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Human Molecular Genetics, 20(12), 2482-2494. PMID: 21447600.

Fingert, J. H., Alward, W. L., Wang, K., Yorio, T. & Clark, A. F. (2010). Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders. Molecular Vision, 3(16), 596-601. PMID: 20376328.

Fingert, J. H., Roos, B., Eyestone, M. E., Pham, J. D., Mellot, M. L. & Stone, E. (2010). Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus. Ophthalmol Genet, 31(2), 77-80. PMID: 20450309.

Rosenberg, T., Roos, B., Johnsen, T., Bech, N., Scheetz, T. E., Larsen, M., Stone, E. M. & Fingert, J. H. (2010). Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. Mol Vis, 16, 2659-68. PMID: 21179233.

Skeie, J. M., Fingert, J. H., Russell, S. R., Stone, E. M. & Mullins, R. F. (2010). Complement component C5a activates ICAM-1 expression on humjan chorodial endothelial cells. Ophthalmic Genet, 31(2), 77-80. PMID: 20484595.

Tang, L., Scheetz, T. E., Mackey, D. A., Hewitt, A. W., Fingert, J. H., Kwon, Y. H., Quellec, G., Reinhardt, J. M. & Abràmoff, M. D. (2010). Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape. Invest Ophthalmol Vis Sci, 51(11), 5870-7. PMID: 20505201.

Sundaresan, P., Kumar, S. M., Thompson, S. & Fingert, J. H. (2010). Reduced frequency of known mutations in a cohort of LHON patients from India. Ophthalmic Genet, 31(4), 196-9. PMID: 20809775.

Skeie, J. M., Fingert, J. H., Russell, S. R., Stone, E. M. & Mullins, R. F. (2010). Complement component C5a activates ICAM-1 expression on human chorodial endothelial cells. Invest Ophthalmol Vis Sci, 51(10), 5336-42. PMID: 20484595.

Meyer, K. J., Davis, L. K., Schindler, E. I., Beck, J. S., Rudd, D. S., Graundstad, A. J., Scheetz, T. E., Braun, T. A., Fingert, J. H., Alward, W. L., Kwon, Y. H., Folk, J. C., Russell, S. R., Wassink, T. H., Stone, E. M. & Sheffield, V. C. (2010). Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet, 129(1), 91-100. PMID: 20981449.

Longmuir, R. A., Fingert, J. H. & Alward, E. L. (2009). Inflammatory Glaucoma. In E. Jaeger (Eds.) Duane’s Clinical Ophthalmology, Chapter 54D. Philadelphia: Elsevier Science Inc.

Trantow, C. M., Mao, M., Petersen, G. E., Alward, E. M., Alward, W. L., Fingert, J. H. & Anderson, M. G. (2009). Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome. Invest Ophthalmol Vis Sci, 50(3), 1205-14. PMID: 19029039.

Fingert, J. H. (2009). Glaucoma Genetics in 2009. Glaucoma Today.

Kwon, Y. H., Fingert, J. H., Kuehn, M. H. & Alward, W. L. (2009). Primary open-angle glaucoma. N Engl J Med, 360(11), 1113-24. PMID: 19279343.

Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., Sheffield, V. & Stone, E. M. (2008). Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill.: 1960), 126, 1301-1307. PMID: 18779497.

Wang, W. H., McNatt, L. G., Hellberg, P. E., Pang, I. H., Millar, J. C., Steely, H. T., Rubin, J. S., Fingert, J. H., Stone, V. C. & Clark, A. F. (2008). Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. Journal of Clinical Investigation, 118(3), 1056-1064.

Shah, S. S., Al-Rajhi, A., Brandt, J. D., Mannis, M. J., Roos, B., Sheffield, V. C., Syed, N. A., Stone, E. M. & Fingert, J. H. (2008). Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genet, 29(1), 41-5. PMID: 18363173.

Kwon, Y. H., Fingert, J. H. & Greenlee, E. C. (2008). A Patient's Guide to Glaucoma. F.E.P. International Inc, Coralville.

Hayreh, S. S., Fingert, J. H., Stone, E. & Jacobson, D. M. (2008). Familial non-arteritic anterior ischemic optic neuropathy. Graefes Arch Clin Exp Ophthalmol, 246(9), 1295-305. PMID: 18587597.

Shankar, S. P., Fingert, J. H., Care;;o, V., Valentino, M. L., King, T. M., Daiger, S. P., Salomao, S. R., Berezovsky, A., Belfort, Jr., R., Braun, T. A., Sheffield, V., Sadun, A. A. & Stone, E. M. (2008). Evidence for a novel X-linked modifier locus for Leber Herditary Optic Neuropathy. Ophthalmic Genetics, 29, 17-24. PMID: 18363168.

Lively, G. D., Alward, W. L. & Fingert, J. H. (2008). Juvenile open-angle glaucoma: 22 year-old Caucasian female referred in 1990 for evaluation of elevated intraocular pressure (IOP). EyeRounds.org.

Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., Sheffield, V. C. & Stone, E. M. (2008). Association of a novel mutation in the retinal dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Arch Ophthalmol, 126(9), 1301-7. PMID: 18779497.

Wang, W. H., McNatt, L. G., Pang, I. H., Hellberg, P. E., Fingert, J. H., McCartney, M. D. & Clark, A. F. (2008). Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure. Investigative Ophthalmology & Visual Science, 49(5), 1916-23. PMID: 18223246.

Kwon, Y. H., Fingert, J. H. & Greenlee, E. C. (2007). A Patient’s Guide to Glaucoma.

Fingert, J. H., Alward, W. L., Kwon, Y. H., Wang, K., Streb, L. M., Sheffield, V. & Stone, E. M. (2007). LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. American Journal of Ophthalmology, 144, 974-975. PMID: 18036875.

Honkanen, R. A., Jampol, L. M., Fingert, J. H., Moore, M., Taylor, C. M., Stone, E. M. & Alward, W. L. (2007). Family with autosomal dominant inheritance of cavitary optic disc anomalies and progressive optic nerve head cupping. American Journal of Ophthalmology, 143, 788-794. PMID: 17362864.

Fingert, J. H., Honkanen, R. A., Shankar, S. P., Affatigato, L. M., Ehlinger, M. A., Jampol, L. M., Sheffield, V., Stone, E. M. & Alward, W. L. (2007). Familial cavitary optic disc anomalies: Identification of a novel genetic locus. American Journal of Ophthalmology, 143, 795-800.

Fingert, J. H., Alward, W. L., Kwon, Y. H., Shankar, S. P., Andorf, J. L., Mackey, D. A., Sheffield, V. & Stone, E. M. (2007). No association between variations in the WDR36 gene and primary open angle glaucoma. Archives of Ophthalmology, 125, 434-436. PMID: 17353431.

Wang, W. H., McNatt, L. G., Pang, I. H., Hellberg, P. E., Fingert, J. H., McCartney, M. D. & Clark, A. F. (2007). Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure. Invest Ophthalmol Vis Sci, 49(5), 974-975. PMID: 18223246.

Abràmoff, M. D., Alward, W. L., Greenlee, E. C., Shuba, L., Kim, C. Y., Fingert, J. H. & Kwon, Y. H. (2007). Automated segmentation of the optic disc from stereo color photographs using physiologically plausible features. Invest Ophthalmol Vis Sci, 48(4), 1665-73. PMID: 17389498.

Hewitt, A. W., Benett, S. L., Fingert, J. H., Cooper, R. L., Stone, E. M., Craig, J. E. & Mackey, D. A. (2007). The optic nerve head in myocilin glaucoma. IOVS, 48, 238-243. PMID: 17197538.

Honkanen, R. A., Jampol, L. M., Fingert, J. H., Moore, M. D., Taylor, C. M., Stone, E. M. & Alward, W. L. (2007). Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. Am J Ophthalmol, 143(5), 788-794. PMID: 17362864.

Hewitt, A. W., Poulsen, J. P., Alward, W. L., Bennett, S. L., Budde, W. M., Cooper, R. L., Craig, J. E., Fingert, J. H., Foster, P. J., Garway-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. (2007). Heritable features of the optic disc: a novel twin method for determining genetic significance. Invest Ophthalmol Vis Sci, 48(6), 2469-75. PMID: 17525172.

Hewitt, A. W., Bennett, S. L., Richards, J. E., Dimasi, D. P., Booth, A. P., Inglehearn, C., Anwar, R., Yamamoto, T., Fingert, J. H., Héon, E., Craig, J. E. & Mackey, D. A. (2007). Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. Arch Ophthalmol, 125(1), 98-104. PMID: 17210859.

Fingert, J. H., Grassi, M. A., Janutka, J. C., East, J. S., Howard, J. G., Sheffield, V., Jacobson, D. M., Hayreh, S. S. & Stone, E. M. (2007). Mitochondrial variant G4132A is associated with familial no-arteritic anterior ischemic optic neuropathy in one large pedigree. Ophthalmic Genetics, 28, 1-7. PMID: 17454741.

Fingert, J. H., Kwon, Y. H., Moore, P. A., Johnston, R. M., Kim, K. Y., Sheffield, V., Alward, W. L. & Stone, E. M. (2006). 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, 27, 39-41. PMID: 16754204.

Grassi, M. A., Fingert, J. H., Sheetz, T. E., Roos, B. R., Ritch, R., West, S. K., Kawase, K., Shire, A. M., Mulllins, R. F. & Stone, E. M. (2006). Ethnic variation in AMD-associated complement factor H polymorphism Tyr402His. Human Mutations, 27, 921-925. PMID: 16865697.

Fingert, J. H., Eliason, D. A., Phillips, N. C., Lotery, A. J., Sheffield, V. & Stone, E. M. (2006). Case of Stargardt disease caused by uniparental isodisomy. Archives of Ophthalmology, 124, 744-745. PMID: 16682602.

Fingert, J. H., Anderson, M. G. (2006). Glaucoma. In B. Korf (Eds.) Emery and Rimoin’s Principles and Practice of Medical Genetics, Chapter 144. Philadelphia: Elsevier Science Inc.

Kuehn, M. H., Fingert, J. H. & Kwon, Y. H. (2005). Retinal ganglion cell death in glaucoma: mechanisms and neuroprotective strategies. Ophthalmol Clin North Am, 18(3), 383-95, vi. PMID: 16054996.

Fingert, J. H., Stone, E. M. (2004). The Molecular genetics of corneal disease. In Krachmer , Mannis , Holland (Eds.) Cornea, Chapter 18. Philadelphia: Elsevier Science Inc.

Mackey, D. A., Fingert, J. H., Luzhansky, J. Z., McCluskey, P. J., Howell, N., Hall, A. J., Pierce, A. B. & Hoy, J. F. (2003). Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye (Lond), 17(3), 312-7. PMID: 12724691.

Mackey, D. A., Healey, D. L., Fingert, J. H., Coote, M. A., Wong, T. L., Wilkinson, C. H., Rait, P. J., de Graf, A. P., Stone, E. M. & Stone, E. M. (2003). Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Archives of Ophthalmology, 121(8), 1172-1180. PMID: 12912696.

Alward, W. L., 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. & Stone, E. M. (2002). Variations in the myocilin gene in patients with open-angle glaucoma. Archives of Ophthalmology, 120, 1189-1197. PMID: 12215093.

Fingert, J. H., Stone, E. M., Sheffield, V. & Alward, W. L. (2002). Myocilin glaucoma. Survey of Ophthalmology, 47, 547-561.

Sale, M. M., Craig, J. E., Charlesworth, J. C., FitzGerald, L. M., Hanson, I. M., Dickinson, J. L., Matthews, S. J., Heyningen Vv, V., Fingert, J. H. & Mackey, D. A. (2002). Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. Hum Mutat, 20(4), 322. PMID: 12325030.

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., Stone, E. M., Clark, A. F. & Sheffield, V. (2001). Non-secretion of mutants proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Human Molecular Genetics, 10, 117-125. PMID: 11152659.

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. & Stone, E. M. (2001). Expression of the glaucoma gene myocilin (MYOC)  in the human optic nerve head. The FASEB Journal, 15, 1251-1253.

Craig, J. E., Baird, P. N., McNaught, A. I., McCartney, P. J., Rait, J. L., Dickinson, J. L., Roe, L. & Fingert, J. H. (2001). Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A GLN268STOP mutation being an important phenotypic modifier. Ophthalmology, 108, 1607-1620. PMID: 11535458.

Fingert, J. H., Clark, A. F., Alward, W. L., Snibson, G. R., McLaughlin, M., Tuttle, L., Mackey, D. A., Sheffield, V. & Stone, E. M. (2001). Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Investigative Ophthalmology & Visual Science, 42, 145-152. PMID: 11133859.

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., WIilkinson, C., Swiderski, R. E., Fingert, J. H., Sheffield, V. & Stone, E. M. (2001). Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Investigative Ophthalmology and Visual Science, 42, 1769-1780. PMID: 11431441.

Shepard, A. R., Jacobson, N., Fingert, J. H., Stone, E. M., Sheffield, V. & Clark, A. F. (2001). Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Investigative Ophthalmology & Visual Science, 42, 3173-3181. PMID: 11726619.

Swiderski, R. E., Ross, J. L., Fingert, J. H., Clark, A. F., Alward, W. L., Stone, E. M. & Sheffield, V. (2000). Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Investigative Ophthalmology and Visual Science, 41, 3420-3428. PMID: 11006234.

Williams-Lyn, D., Flanagan, J., Buys, Y., Trope, G. E., Fingert, J. H., Stone, E. M. & Heon, E. (2000). The genetic aspects of adult-onset glaucoma: A perspective from the Greater Toronto area. Canadian Journal of Ophthalmology, 35, 12-17. PMID: 10711378.

Alward, W. L., Fingert, J. H., Kwon, Y. H., Johnson, A. T., Hayreh, S. S., Sheffield, V. C. & Stone, E. M. (2000). Characterization of a large family with adult-onset primary open angle glaucoma caused by a mutation in the GLC1A gene. In G. K. Grieglstein (Eds.) Glaucoma Update VI, CHapter 7. Berlin: Springer-Verlag.

Simm, R. M., Fingert, J. H., Craig, J. E., McNaught, A. I. & Mackey, D. A. (1999). Normal range of hearing associated with myocilin THR377MET. Ophthalmic Genetics, 20, 205-207. PMID: 10610189.

Fingert, J. H., Heon, E., Liebmann, J. M., Yamamoto, T., Craig, J. E., Rait, J., Kawase, K., Hoh, S. T., Buys, Y. M., Dickinson, J., Hockey, R. R., Wililams-Lyn, D., Trope, G., Kitazawa, Y., Ritch, R., Mackey, D. A., Alward, W. L., Sheffield, V. & Stone, E. M. (1999). Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Human Molecular Genetics, 8(5), 899-905. PMID: 10196380.

Mellott, M. L., Brown, Jr., J., Fingert, J. H., Taylor, C. M., Keech, R. V., Sheffield, V. & Stone, E. M. (1999). Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. Archives of Ophthalmology, 117, 1630-1633. PMID: 10604668.

Fingert, J. H., Ying, L., Nystuen, A. M., Arbour, N. C., Alward, W. L., Sheffield, V. & Stone, E. M. (1998). Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Research, 8, 377-384. PMID: 9548973.

Alward, W. L., Fingert, J. H., Coote, M. A., Lerner, F. S., Durcan, F. J., McCartney, P. J., Sheffield, V. & Stone, E. M. (1998). Clinical features associated with mutations in the chromosome 1 open angle glaucoma gene (GLC1A). New England Journal of Medicine, 338, 1022-1027. PMID: 9535666.

Kennan, A. M., Mansergh, F. C., Fingert, J. H., Clark, T., Ayuso, C., Kenna, P. F., Humphries, P. & Farrar, G. J. (1998). A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet, 35(11), 957-60. PMID: 9832047.

Lamb, B. L., Fingert, J. H., Shutt, B. C., Singleton, E. M., Merlin, L. M., Brown, H. H., Sheffield, V. & Stone, E. M. (1997). Clinical and molecular characterization of a family affected with x-linked ocular olbinism (OA1). Ophthalmic Genetics, 18, 175-184. PMID: 9457748.

Brown, Jr., J., Fingert, J. H., Taylor, C. M., Lake, M., Sheffield, V. & Stone, E. M. (1997). Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Archives of Ophthalmology, 115, 95-99. PMID: 9006432.

Stone, E. M., Fingert, J. H., Alward, W. L., Polansky, J. R., Nguyen, T. D., Sunden, S. L., Nishimura, D., Nysteun, A., Mackey, D. A., Ritch, R., Kalenak, J. W., Craven, E. R. & Sheffield, V. (1997). Identification of a gene that causes primary open angle glaucoma. Science, 275, 668-670. PMID: 9005853.