Anatomy and Cell Biology

John H. Fingert, MD, PhD

Portrait

Associate Professor of Ophthalmology and Visual Sciences

Contact Information

Primary Office: 1269B  CBRB
Iowa City, IA 52242
Primary Office Phone: 319-335-7508

Clinic: 11190 PFP
200 Hawkins Dr,
Iowa City, IA 52242

Email: john-fingert@uiowa.edu
Web: Glaucoma Genetics Laboratory
Web: Iowa Glaucoma Center

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
Residency, Ophthalmology, University of Iowa
Fellowship, Genetics/Glaucoma, University of Iowa
Fellowship, Molecular Ophthalmology, University of Iowa Department of Ophthalmology and Visual Sciences

Licensure and Certifications

State of Iowa Medical License Iowa Board of Medicine
NBME Diplomate National Board of Medical Examiners
ABO Certification American Board of Ophthalmology

Education/Training Program Affiliations

Biosciences Graduate Program
Interdisciplinary Graduate Program in Genetics
Medical Scientist Training Program

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.

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration
Center on Aging
Institute for Clinical and Translational Science
Iowa Initiative in Human Genetics
John and Marcia Carver Nonprofit Genetic Testing Laboratory
Stephen A. Wynn Institute for Vision Research

All Publications

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

Christopher M, Tang L, Fingert J, Scheetz T, Abramoff M.  Automated discovery of structural features of the optic nerve head on the basis of image and genetic data.  Proc SPIE.  2014. 9035:90350S.

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

Tucker B, Solivan-Timpe F, Roos B, Anfinson K, Robin A, Wiley L, Mullins R, Fingert J.  Duplication of TBK1 Stimulates Autophagy in iPSC-derived Retinal Cells from a Patient with Normal Tension Glaucoma. (Article 1000161).  Journal of Stem Cell Research and Therapy.  2014. 4(1).

Fingert J, Darbro B, Qian Q, Van Rheeden R, Miller K, Riker M, Solivan-Timpe F, Roos B, Robin A, Mullins R.  TBK1 and Flanking Genes in Human Retina.  Ophthalmic Genet.  2014. 35(1):35-40.
[PubMed]

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

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

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

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

Scheetz T, Fingert J, Wang K, Kuehn M, Knudtson K, Alward W, Boldt H, Russell S, Folk J, Casavant T, Braun T, Clark A, Stone E, Sheffield V.  A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel loci.  PLoS One.  2013 March 11. 8(3):e58657.
[Link]

Fingert J, Darbro B, Qian Q, Van Rheeden R, Miller R, Riker M, Solivan-Timpe F, Roos B, Robin A, Mullins R.  TBK1 and Flanking Genes in Human Retina.  Ophthalmic Genetics.  2013 February 20. 
[Link]

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

Bhattacharya S, Lee R, Grus F, Seventh ARVO/Pfizer Ophthalmics Research Institute Conference Working Group .  Molecular biomarkers in glaucoma.  Invest Ophthalmol Vis Sci.  2013 January 7. 54(1):121-31.
[PubMed]

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

Fingert J, Burden J, Wang K, Kwon Y, Alward W, Anderson M.  Circumferential iris transillumination defects in exfoliation syndrome.  J Glaucoma.  2013. 22(7):555-8.
[PubMed]

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

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

Bhattacharya S, Lee R, Grus F, Seventh ARVO/Pfizer Ophthalmics Research Institute Conference Working Group .  Molecular Biomarkers in Glaucoma.  Invest Ophthalmol and Vis Sci.  2013. 54:122-131.

Fingert J, Mullins R, Anderson M.  Transgenic TBK1 mice and normal tension glaucoma.  Asia Pacific Academy of Ophthalmology.  2013. 

Fingert J, Roos B, Solivan-Timpe F, Miller K, Oetting T, Wang K, Scheetz T, Stone E, Alward W.  Analysis of ASB10 variants in open angle glaucoma.  Human Molecular Genetics.  2012 October 15. 21(20):4543-4548.
[Link]

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

Kawase K, Allingham R, Meguro A, Mizuki N, Roos B, Solivan-Timpe F, Robin A, Ritch R, Fingert J.  Confirmation of TBK1 duplication in normal tension glaucoma.  Experimental Eye Research.  2012 March. 96(1):178-180.
[Link]

Fingert J, Roos B, Solivan-Timpe F, Miller K, Oetting T, Wang K, Kwon Y, Scheetz T, Stone E, Alward W.  Analysis of ASB10 variants in open angle glaucoma.  Hum Mol Genet.  2012. 21(20):4543-8.
[PubMed]

Mahajan V, Skeie J, Bassuk A, Fingert J, Braun T, Daggett H, Folk J, Sheffield V, Stone E.  Calpain-5 mutations cause autoimmune uveitis, retinal neovacularization, and photoreceptor degeneration.  PLoS Genet.  2012. 8(10):e1003001.
[PubMed]

Namburi P, Sundaresan P, Ramakrishnan R, Kadeer M, Krishnadas S, Robin A, Ramulu P, Fingert J.  Evaluating the role of myocilin and optineurin genes in familial primary open angle glaucoma.  Invest Ophthalmol and Vis Sci.  2012. 

Fingert J, Roos B, Ritch R, Scheetz T, Kwon Y, Alward W.  Genetic Risk Factors for Pigment Dispersion Syndrome.  American Glaucoma Society.  2012. 

Fingert J, Roos B, Solivan-Timpe F, Humbert M, Seongjin S.  Identification of Proteins that Interact with TANK binding kinase 1 (TBK1).  Investative Ophthalmic and Vis Sci.  2012. 

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

Fingert J.  TBK1 and normal tension glaucoma.  Asia Pacific Academy of Ophthalmology.  2012. 

Rogers G, Alward W, Fingert J.  Plateau Iris.  EyeRounds.org;  2011.  Available from: http://webeye.ophth.uiowa.edu/eyeforum/cases/143-plateau-iris.htm

Davis L, Meyer K, Schindler E, Beck J, Rudd D, Grundstad A, Scheetz T, Braun T, Fingert J, Alward W, Kwon Y, Folk J, Russell S, Wassink T, Sheffield V, Stone E.  Copy number variations and primary open-angle glaucoma.  Invest Ophthalmol Vis Sci.  2011 September 9. 52(10):7122-33.
[PubMed]

Fingert J, Robin A, Stone J, Roos B, Davis L, Scheetz T, Bennett S, Wassink T, Kwon Y, Alward W, Mullins R, Sheffield V, Stone E.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.  Human Molecular Genetics.  2011 June 15. 20(12):2482-2494.
[Link]

Fingert J.  Primary Open Angle Glaucoma Genes.  Eye (Lond).  2011 May. 25(5):587-595.
[Link]

Trantow C, Cuffy T, Fingert J, Kuehn M, Anderson M.  Microarray analysis of iris gene expression in mice with mutations influencing pigmentation.  Invest Ophthalmol Vis Sci.  2011 January 5. 52(1):237-48.
[PubMed]

Roos B, Kuehn M, Wang K, Stone E, Kwon Y, Alward W, Fingert J.  Association Study of Cav1 and Cav2 in primary open angle glaucoma patients from Iowa.  Invest Ophthalmol and Vis Sci.  2011. 

Kuehn M, Wang K, Roos B, Stone E, Kwon Y, Alward W, Mullins R, Fingert J.  Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort.  Mol Vis.  2011. 17:430-5.
[Link]

Mullins R, Fingert J, Johnson M, Folk J, Stone E.  Evaluation of morphologic features of AMD related to ARMS2 A69S genotype.  Invest Ophthalmol and Vis Sci.  2011. 

Mullins R, Skeie J, Folk J, Solivan-Timpe F, Oetting T, Huang J, Wang K, Stone E, Fingert J.  Evaluation of variants in the selectin genes in age-related macular degeneration.  BMC Med Genet.  2011. 12(1):58.
[Link]

Mahajan V, Folk J, Fingert J, Skeie J, Kinnick T, Scheetz T, Bassuk A, Manak J, Sheffield V, Stone E.  Genetic analysis and phenotypic staging of autosomal dominant neovascular inflammatory vitreoretinopathy.  2011. 

Meyer K, Davis L, Schindler E, Beck J, Rudd D, Grundstand A, Scheetz T, Braun T, Fingert J, Alward W, Kwon Y, Folk J, Russell S, Wassink T, Stone E, Sheffield V.  Genome-wide analysis of copy number variants in age-related macular degeneration.  Hum Genet.  2011. 129(1):91-100.
[PubMed]

Fingert J, Stone J, Roos B, Honkanen R, Jampol L, Alward W, Robin A.  Identification of a novel duplication of chromosome 12q14 that is associated with normal tension glaucoma .  American Ophthalmological Society.  2011. 

Stamler J, Fingert J.  Molecular Genetics of Corneal Disease. (Chapter 12).  Mosby.  2011. 1(3):149-60.

Stamler J, Fingert J.  The Molecular genetics of corneal disease.  Elsevier Science Inc.  2011. 

Fingert J, Roos B, Honkanen R, Jampol L, Alward W.  The search for the gene that causes cavitary optic disc anonomaly (CODA).  World Glaucoma Congress.  2011. 

Rosenberg T, Roos B, Johnsen T, Bech N, Scheetz T, Larsen M, Stone E, Fingert J.  Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.  Mol Vis.  2010 December 9. 16:2659-68.

Sundaresan P, Kumar S, Thompson S, Fingert J.  Reduced frequency of known mutations in a cohort of LHON patients from India.  Ophthalmic Genet.  2010 December. 31(4):196-9.
[Link]

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

Skeie J, Fingert J, Russell S, Stone E, Mullins R.  Complement component C5a activates ICAM-1 expression on human chorodial endothelial cells.  Invest Ophthalmol Vis Sci.  2010 October. 51(10):5336-42.
[PubMed]

Skeie J, Fingert J, Russell S, Stone E, Mullins R.  Complement component C5a activates ICAM-1 expression on human chorodial endothelial cells.  Invest Ophthalmol Vis Sci.  2010 October. 51(10):5336-42.
[PubMed]

Meyer K, Davis L, Schindler E, Beck J, Rudd D, Graundstad A, Scheetz T, Braun T, Fingert J, Alward W, Kwon Y, Folk J, Russell S, Wassink T, Stone E, Sheffield V.  Genome-wide analysis of copy number variants in age-related macular degeneration.  Hum Genet.  2010 September 28. 129(1):91-100.
[PubMed]

Skeie J, Fingert J, Russell S, Stone E, Mullins R.  Complement component C5a activates ICAM-1 expression on humjan chorodial endothelial cells.  Ophthalmic Genet.  2010 June. 31(2):77-80.
[PubMed]

Fingert J, Roos B, Eyestone M, Pham J, Mellot M, Stone E.  Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.  Ophthalmol Genet.  2010 June. 31(2):77-80.
[PubMed]

Sundaresan P, Vijayalakshmi P, Thompson S, Ko A, Fingert J, Stone E.  Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.  Mol Vis.  2010 April 3. 16:596-601.
[PubMed]

Fingert J, Alward W, Wang K, Yorio T, Clark A.  Assessment of SNP's associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders.  Mol Vis.  2010 April. 3(16):596-601.
[PubMed]

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

Fingert J, Robin A, Stone J, Scheetz T, Casavant T, Wassink T, Alward W, Sheffield V, Stone E.  Discovery of a new normal tension glaucoma gene.  Invest Ophthalmol and Vis Sci.  2010. 

Fingert J, Stone J, Robin A, Roos B, Davis L, Scheetz T, Alward W, Kwon Y, Wassink T, Sheffield T, Stone E.  Identification of a novel duplication on chromosome 12q14 and the TBK1 gene in normal tension glaucoma.  American Journal of Human Genetics.  2010. 

Fingert J.  Glaucoma Genetics in 2009.  Glaucoma Today.  2009 May. 

Kwon Y, Fingert J, Kuehn M, Alward W.  Primary open-angle glaucoma.  N Engl J Med.  2009 March 12. 360(11):1113-24.
[PubMed]

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

Davis K, Meyer K, Schindler E, Beck J, Rudd D, Grundstad J, Scheetz T, Braun T, Fingert J, Folk J, Russell S, Wassink T, Stone E.  A large scale study of copy variation implicates the genes DMXL1 and TULP3 in the etiology of primary open angle glaucoma.  American Journal of Human Genetics.  2009. 

Fingert J, Alward W, Kwon Y, Stone E, Sheffield V, Scheetz T.  Association study of pigment dispersion study.  Invest Ophthalmol and Vis Sci.  2009. 

Fingert J, Scheetz T, Huang J, Anderson M, Gordon M, Kass M.  Genetics of quantitative traits associated with glaucoma.  USC Genetics Workshop: Illuminating the Genetic Architecture of Common Eye Disease.  2009. 

Meyer K, Davis K, Schindler E, Beck J, Rudd D, Grundstad J, Scheetz T, Braun T, Fingert J, Russell S, Wassink T, Stone E, Sheffield V.  Genome wide analysis of copy number variation implicates CHL1 in the pathogenesis of age-related macular degeneration.  American Journal of Human Genetics.  2009. 

Longmuir R, Fingert J, Alward E.  Inflammatory Glaucoma.  Elsevier Science Inc.  2009. 

Lively G, Alward W, Fingert J.  Juvenile open-angle glaucoma: 22 year-old Caucasian female referred in 1990 for evaluation of elevated intraocular pressure (IOP).  EyeRounds.org;  2008.  Available from: http://webeye.ophth.uiowa.edu/eyeforum/cases/87-Myocilin-juvenile-open-angle-glaucoma.htm

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

Hayreh S, Fingert J, Stone E, Jacobson D.  Familial non-arteritic anterior ischemic optic neuropathy.  Graefes Arch Clin Exp Ophthalmol.  2008 September. 246(9):1295-305.
[PubMed]

Wang W, McNatt L, Pang I, Hellberg P, Fingert J, McCartney M, Clark A.  Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure.  Invest Ophthalmol Vis Sci.  2008 May. 49(5):1916-23.
[Link]

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

Kwon Y, Fingert J, Greenlee E.  A Patient's Guide to Glaucoma.  F.E.P. International Inc, Coralville;  2008.

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

Damarjian T, Fingert J, Mullins R, Ehlinger M, Owens J, Hoffman J, Folk J, Mahajan V, Stone E.  Immunological basis of autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV).  Invest Ophthalmol and Vis Sci.  2008. 

Wang W, McNatt L, Pang I, Hellberg P, Fingert J, McCartney M, Clark A.  Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure.  IOVS.  2008. 49:1916-1923.
[PubMed]

Wang W, McNatt L, Hellberg P, Pang I, Millar J, Steely H, Rubin J, Fingert J, Stone V, Clark A.  Increased Expression of the WNT Antagonist sFRP1 in Glaucoma: Presence of a Functional WNT Signaling Pathway in Trabeular Meshwork that Regulates IOP.  J Clin Invest.  2008. 118:1056-1064.

Sundaresan P, Vijayalakshim P, Thomson S, Fingert J, Stone E.  Low Prevalence of Known Disease Causing Mutations in South Indian Leber Congenital Amaurosis Patients.  Invest Ophthalmol and Vis Sci.  2008. 

Fingert J,  K, Chung M, Scheetz T, Roos B, Daggett H, Adkins U, Sheffield V, Stone E.  Novel mutation in the retinol dehydrogenase 12 (RDH12) gene is associated with retinitis pigmentosa in a large autosomal dominant pedigree from Iowa.  2008. 

Fingert J, Oh K, Chung M, Scheetz T, Andorf J, Johnson R, Sheffield V, Stone E.  Novel mutation in the retinol dehydrogenase 12 (RDH12) gene is assoicated with autosomal dominant retinitis pigmentosa.  Archives of Ophthalmology.  2008. 126:1301-1307.
[PubMed]

Wang W, McNatt L, Pang I, Hellberg P, Fingert J, McCartney M, Clark A.  Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure.  Invest Ophthalmol Vis Sci.  2007 December. 49(5):974-975.
[PubMed]

Hewitt A, Poulsen J, Alward W, Bennett S, Budde W, Cooper R, Craig J, Fingert J, Foster P, Garway-Heath D, Green C, Hammond C, Hayreh S, Jonas J, Kaufman P, Miller N, Morgan W, Newman N, Quigley H, Samples J, Spaeth G, Pesudovs K, Mackey D.  Heritable features of the optic disc: a novel twin method for determining genetic significance.  Invest Ophthalmol Vis Sci.  2007 June. 48(6):2469-75.
[Link]

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

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

Stone E, Fingert J, Braun T, Isaak E, Andorf J, Streb L, Fishman G, Weleber R, Jacobson S, Sheffield V.  A strategy for efficient molecular diagnosis of genetically heterogenous autosomal recessive diseases.  Invest Ophthalmol and Vis Sci.  2007. 

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

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

Fingert J, Honkanen R, Shankar S, Ehlinger M, Affatigato L, Jampol L, Sheetz T, Sheffield V, Alward W.  Identification of a novel genetic locus for familial cavitary optic disc anomalies.  Invest Ophthalmol and Vis Sci.  2007. 

Fingert J, Alward W, Kwon Y, Wang K, Streb L, Sheffield V, Stone E.  LOX1 mutations are associated with exfoliation syndrome in patients from the Midwestern United States.  American Journal of Ophthalmology.  2007. 144:974-975.
[PubMed]

Fingert J, Grassi M, Janutka J, East J, Howard J, Sheffield V, Jacobson D, Hayreh S, Stone E.  Mitochondrial variant G4132A is associated with familial no-arteritic anterior ischemic optic neuropathy in one large pedigree.  Ophthalmic Genetics.  2007. 28:1-7.
[PubMed]

Anderson M, Trantow C, Amonoo L, Peterson K, Fingert J.  Mutation of lyst in mice recapitulates aspects of human exfoliation syndrome.  Invest Ophthalmol and Vis Sci.  2007. 

Fingert J, Alward W, Kwon Y, Shankar S, Andorf J, Mackey D, Sheffield V, Stone E.  No association between variations in the WDR36 gene and primary open angle glaucoma.  Archives of Ophthalmology.  2007. 125:434-436.
[PubMed]

Shankar S, Fingert J, Eyestone M, Daggett H, Sheffield V, Keech R, Stone E.  Novel FRMD7 mutation is associated with x-linked idiopathic congenital hystagmus in a large pedigree from Iowa.  Invest Ophthalmol and Vis Sci.  2007. 

Hewitt A, Benett S, Fingert J, Cooper R, Stone E, Craig J, Mackey D.  The optic nerve head in Myocilin glaucoma.  IOVS.  2007. 48:238-243.
[PubMed]

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

Fingert J, Eliason D, Phillips N, Lotery A, Sheffield V, Stone E.  A case of Stargardt disease caused by uniparental isodisomy (UPID).  Archives of Ophthalmology.  2006. 124:744-745.
[PubMed]

Abramoff M, Fingert J, Shuba L, Greenlee E, Alward W, Kwon Y.  Automatic segmentation of the cup and rim from optic disc stereo color images: correlation between glaucoma fellows, glaucoma experts, and pixel feature classification.  2006. 

Grassi M, Fingert J, Folk J, Scheetz T, Shire A, Ritch R, West S, Kawase K, Mullins R, Stone E.  Ethnic and phenotypic frequencies of complement factor H polymorphism Y402H.  Invest Ophthalmol and Vis Sci.  2006. 

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

Fingert J, Anderson M.  Glaucoma.  Elsevier Science Inc.  2006. 

Fingert J, Kwon Y, Moore P, Johnston R, Kim K, Sheffield V, Alward W, Stone E.  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.
[PubMed]

Hewitt A, Bennett S, Poulsen J, Fingert J, McCartney P, Stone E, Craig J, Mackey D.  The optic disc in myocilin glaucoma.  Invest Ophthalmol and Vis Sci.  2006. 

Fingert J, Alward W, Kwon Y, Shankar S, Moore P, Roos P, Sheffield V, Stone E.  Variants in the WDR36 gene are not associated with open angle glaucoma in a large cohort of patients from Iowa.  Invest Ophthalmol and Vis Sci.  2006. 

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

Fingert J, Stone E.  The Molecular genetics of corneal disease.  Elsevier Science Inc.  2004. 

Mackey D, Fingert J, Luzhansky J, McCluskey P, Howell N, Hall A, Pierce A, Hoy J.  Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus.  Eye (Lond).  2003 April. 17(3):312-7.
[Link]

Mackey D, Healey D, Fingert J, Coote M, Wong T, Wilkinson C, Rait P, de Graf A, Stone E, Stone E.  Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.  Archives of Ophthalmology.  2003. 121:1172-1180.
[PubMed]

Fingert J, Streb L, Moore P, Randolph M, Sheffield V, Stone E.  Linkage of a large pattern dystrophy pedigree to chromosome 6p21.  Invest Ophthalmol and Vis Sci.  2003. 

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

Fingert J, Affatigato L, Secrist J, Shankar S, Sheffield V, Stone E.  Identification of a novel OPA1 mutation in a large family with a severe dominant optic atrophy phenotype.  Invest Ophthalmol and Vis Sci.  2002. 

Clark A, Wang W, McNatt L, Magnino P, Pang I, Rubin J, Fingert J, Stone E.  Increased expression of sFRP-1 in glaucomatous trabecular meshwork and presence of a functional WNT signaling pathway that regulates IOP.  Invest Ophthalmol and Vis Sci.  2002. 

Fingert J, Stone E, Sheffield V, Alward W.  Myocilin glaucoma.  Survey of Ophthalmology.  2002. 47:547-561.

Alward W, Kwon Y, Khanna C, Johnson A, Hayreh S, Zimmerman M, Fingert J, Roos B, Sheffield V, Stone E.  Myocilin mt1 promoter polymorphisms in adult-onset primary open angle glaucoma.  Invest Ophthalmol and Vis Sci.  2002. 

Alward W, Kwon Y, Khanna C, Johnson A, Hayreh S, Zimmerman M, Narkiewicz J, Andorf J, Moore P, Fingert J, Sheffield V, Stone E.  Variations in the myocilin gene in patients with open-angle glaucoma.  Archives of Ophthalmology.  2002. 120:1189-1197.
[PubMed]

Shepard A, Jacobson N, Fingert J, Stone E, Sheffield V, Clark A.  Delayed secondary glucocorticoid responsiveness in human trabecular meshwork cells.  Invest Ophthalmol and Vis Sci.  2001. 

Shepard A, Jacobson N, Fingert J, Stone E, Sheffield V, Clark A.  Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells.  Investigative Ophthalmology and Visual Science.  2001. 42:3173-3181.
[PubMed]

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

Craig J, Baird P, McNaught A, McCartney P, Rait J, Dickinson J, Roe L, Fingert J.  Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A GLN268STOP mutation being an important phenotypic modifier.  Ophthalmology.  2001. 108:1607-1620.
[PubMed]

Clark A, Kawase K, English-Wright S, Lane D, Steely H, Kawase C, Yamamoto T, Kitawaza Y, Fingert J, Swiderski R, Mullins R, Hageman G, Sheffield V, Stone E.  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.

Mackey D, Craig J, Healey D, Rait J, Fingert J, Stone E.  Glaucoma associated with GLC1A THR377MET mutation.  Invest Ophthalmol and Vis Sci.  2001. 

Clark A, Steely T, Dickerson J, English-Wright S, Stropki K, McCartney M, Jacobson N, Shepard A, Clark J, Matsushima H, Peskind E, Leverenz J, WIilkinson C, Swiderski R, Fingert J, Sheffield V, Stone E.  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.
[PubMed]

Mackey D, Luzhansky J, Fingert J, McClusky P, Howell N, Hall A, Pierce A, Hoy J.  Leber's hereditary optic neuropathy triggered by antiretroviral therapy for HIV.  ISGED.  2001. 

Jacobson N, Andrews M, Shepard A, Nishimura D, Searby C, Fingert J, Hageman G, Mullins R, Davidson B, Kwon Y, Alward W, Stone E, Clark A, Sheffield V.  Non-secretion of mutants proteins of the glauocma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.  Human Molecular Genetics.  2001. 10:117-125.
[PubMed]

Alward W, Fingert J, Kwon Y, Johnson A, Hayreh S, Sheffield V, Stone E.  Characterization of a large family with adult-onset primary open angle glaucoma caused by a mutation in the GLC1A gene.  Springer-Verlag.  2000. 

Kawase K, Kawase C, Udo M, Yoh M, Yamamoto T, Kitazawa T, Fingert J, Alward W, Stone E, Semina E.  Genetic variation in five glaucoma-related genes in Japanese patients wtih juvenile glaucoma and congenital glaucoma.  Invest Ophthalmol and Vis Sci.  2000. 

Swiderski R, Ross J, Fingert J, Clark A, Alward W, Stone E, Sheffield V.  Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.  Investigative Ophthalmology and Visual Science.  2000. 41:3420-3428.
[PubMed]

Williams-Lyn D, Flanagan J, Buys Y, Trope G, Fingert J, Stone E, Heon E.  The genetic aspects of adult-onset glaucoma: A perspective from the Greater Toronto area.  Canadian Journal of Ophthalmology.  2000. 35:12-17.
[PubMed]

Shah S, Fingert J, Sutphin Jr J, Johnston R, Taylor C, Haines H, Hoffman J, Scheibe-Owens J, Sheffield V, Stone E.  Variations in the TCF8 gene are associated with a posterior polymorphous corneal dystrophy phenotype.  Invest Ophthalmol and Vis Sci.  2000. 

Fingert J, Heon E, Liebmann J, Yamamoto T, Craig J, Rait J, Kawase K, Hoh S, Buys Y, Dickinson J, Hockey R, Wililams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey D, Alward W, Sheffield V, Stone E.  Analysis of mycilin mutations in 1703 glaucoma patients from five different populations.  Human Molecular Genetics.  1999. 8:899-905.
[PubMed]

Alward W, Fingert J, Kwon Y, Johnson A, Hayreh S, Sheffield V, Stone E.  Characterization of a large family with adult-onset primary open angle glaucoma caused by a mutation in teh GLC1A gene.  International Congress of Ophthalmology.  1999. 

Mellott M, Brown, Jr.  J, Fingert J, Taylor C, Keech R, Sheffield V, Stone E.  Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.  Archives of Ophthalmology.  1999. 117:1630-1633.
[PubMed]

Clark A, English-Wright S, Lane D, Steely H, Fingert J, Stone E.  Expression of the glaucoma gene myocilin in cells of the human optic nerve.  Invest Ophthalmol and Vis Sci.  1999. 

Ying L, Fingert J, Stone E, Sheffield V.  Generation and analysis of myocilin transgenic mice.  American Journal of Human Genetics.  1999. 

Craig J, Mackey D, Baird P, McNaught A, Dickinson J, Rait J, Coote M, Healey D, Fingert J, Stone E.  Glaucoma phenotype associated with the GLC1A Gin368STOP mutation from the Glaucoma Inheritance Study in Tasmania.  American Journal of Human Genetics.  1999. 

Fingert J, Clark A, Streb L, Alward W, Sheffield V, Stone E.  Identification and evaluation of glaucoma candidate genes.  Invest Ophthalmol and Vis Sci.  1999. 

Swiderski R, Fingert J, Ross J, Alward W, Hageman G, Stone E, Sheffield V.  Localization of MYOC (GLC1A) transcripts in human eye and optic nerve by in situ hybridization.  American Journal of Human Genetics.  1999. 

Simm R, Fingert J, Craig J, McNaught A, Mackey D.  Normal range of hearing associated with myocilin THR377MET.  Ophthalmic Genetics.  1999. 20:205-207.
[PubMed]

Kawase K, Alward W, Kawase C, Fingert J, Udo M, Stone E, Yamamoto T, Sheffield V, Kitazawa Y.  Sequence variation of GLC1A (MYOC/TIGR) gene in Japanese patients with normal-tension glaucoma and ocular hypertension.  Invest Ophthalmol and Vis Sci.  1999. 

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

Kennan A, Mansergh F, Fingert J, Clark T, Ayuso C, Kenna P, Humphries P, Farrar G.  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.
[PubMed]

Fingert J, Ying L, Nystuen A, Arbour N, Alward W, Sheffield V, Stone E.  Characterization and comparison of the human and mouse GLC1A glaucoma genes.  Genome Research.  1998. 8:377-384.
[PubMed]

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

Fingert J, Ying L, Swiderski R, Arbour N, Nystuen A, Alward W, Sheffield V, Stone E.  Comparison and characterization of the human GLC1A glaucome gene and its mouse orthologue.  Invest Ophthalmol and Vis Sci.  1998. 

Clark A, Steely H, Dickerson J, English-Wright S, Fingert J, Stone E.  Expression of GLC1A (Myocilin, TIGR) in the trabecular meshwork.  American Journal of Human Genetics.  1998. 

Fingert J, Heon E, Ritch R, Mackey D, Alward W, Sheffield V, Stone E.  Screening 1800 consecutive glaucoma patients from five different populations for mutations in myocilin.  American Journal of Human Genetics.  1998. 

Fingert J, Sheffield V, Stone E.  The molecular genetics of macular generation.  International Congress of Eye Research.  1998. 

Fingert J, Clark T, Beck G, Hockey R, Alward W, Sheffield V, Stone E.  Characterization of the glaucoma phenotypes associated with two mutations in the GLC1A gene.  American Journal of Human Genetics.  1997. 

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

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

Stone E, Fingert J, Alward W, Polansky J, Nguyen T, Sunden S, Nishimura D, Nysteun A, Mackey D, Ritch R, Kalenak J, Craven E, Sheffield V.  Identification of a gene that causes primary open angle glaucoma.  Science.  1997. 275:668-670.
[PubMed]

Fingert J, Alward W, Sunden S, Nishimura D, Nysteun A, Nichols B, Mackey D, Ritch R, Kalenak J, Craven E, Beck G, Streb L, Sheffield V, Stone E.  Identification of the gene causing 1Q-linked juvenile onset open angle glaucoma (GLC1A) and evidence for its involvement in adult primary open angle glaucoma.  Invest Ophthalmol and Vis Sci.  1997. 

Alward W, Fingert J, Johnson A, Kwon Y, Hayreh S, Love T, Vandenburgh K, Sheffield V, Stone E.  The phenotype of primary open angle glaucoma patients with mutations in the GLC1A gene.  Invest Ophthalmol and Vis Sci.  1997. 

Sheffield V, Fingert J, Sunden S, Nishimura D, Nystuen A, Nicholas B, Stone E.  THe use of geomic resources to identify a gene causing primary open angle glaucoma.  Cold Spring Harbor/Genome Mapping and Sequencing.  1997. 

Lam B, Fingert J, Shutt B, Singleton E, Merin L, Sheffield V, Stone E.  Clinical and molecular characterization of a family affected with x-linked ocular albinism (OA1).  Invest Ophthalmol and Vis Sci.  1996. 

Fingert J, Brown Jr J, Butler C, Lake M, Sheffield V, Stone E.  Refinement of the dominant optic atropy locus (3q) and clinical characterization of a large family.  Invest Ophthalmol and Vis Sci.  1996. 

Koenekoop R, Sunness J, Fingert J, Stone E, Maumenee I.  Dominant bull's eye maculopathy: Clinical, physiological and molecular analysis of a family.  Invest Ophthalmol and Vis Sci.  1995. 

Kwon Y, Fingert J, Greenlee E.  A Patient’s Guide to Glaucoma.  Available from: http://www.medrounds.org/glaucoma-guide/

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

Gupta V, Srivastava R, Rao A, Mittal M, Fingert J.  Clinical correlates to the goniodysgeneis among juvenile-onset primary open-angle glaucoma patients.  Epub Graefes Arch Clin Exp Ophthalmol. 
[PubMed]

Fingert J.  Heredity and Glaucoma.  Wolter Kluwer Health – LWW. 

 .  Low Prevalence of known disease causing mutations in South Indian Leber congenital amaurosis patients.  Invest Ophthalmol and Vis Sci. 

Date Last Modified: 07/22/2014 - 13:16:32