J. Fingert

Ian C. Han, E. Stone, B. Tucker, 2021, Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics.

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

M. Pirinen, P. Donnelly, C. Spencer, 2019, Nature Communications.

Confirmation of TBK1 duplication in normal tension glaucoma.

R. Ritch, A. Robin, A. Meguro, 2012, Experimental eye research.

Erratum

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 1937, Biological Psychiatry.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India

E. Stone, J. Fingert, Periasamy Sundaresan, 2009, Molecular vision.

Normal range of hearing associated with myocilin Thr377Met.

D. Mackey, J. Craig, J. Fingert, 1999, Ophthalmic Genetics.

A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree

T. Scheetz, E. Stone, M. Schnieders, 2018, Eye.

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

V. Sheffield, E. Stone, J. Fingert, 1997, Archives of ophthalmology.

MMP19 expression in the human optic nerve

L. Jampol, R. Mullins, J. Fingert, 2016, Molecular vision.

Molecular Genetics of Corneal Disease

J. Stamler, J. Fingert, 2011 .

Automated segmentation of the optic disc from stereo color photographs using physiologically plausible features.

Young H. Kwon, Michael D Abràmoff, Lesya Shuba, 2007, Investigative ophthalmology & visual science.

Primary congenital and developmental glaucomas

Adam P. DeLuca, E. Stone, W. Alward, 2017, Human molecular genetics.

The Utility of Diaton Tonometer Measurements in Patients With Ocular Hypertension, Glaucoma, and Glaucoma Tube Shunts: A Preliminary Study for its Potential Use in Keratoprosthesis Patients

Young H. Kwon, W. Alward, J. Fingert, 2016, Journal of glaucoma.

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.

V. Sheffield, D. Mackey, E. Stone, 2001, Investigative ophthalmology & visual science.

Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.

V. Sheffield, R. Swiderski, E. Stone, 2001, Investigative ophthalmology & visual science.

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Young H. Kwon, V. Sheffield, B. Davidson, 2001, Human molecular genetics.

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

V. Sheffield, R. Ritch, J. Dickinson, 1999, Human molecular genetics.

Cell–Matrix Interactions in the Eye: From Cornea to Choroid

Ian C. Han, E. Sohn, Andrew Pouw, 2021, Cells.

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

V. Sheffield, M. Coote, D. Mackey, 1998, The New England journal of medicine.

Mutation in the SLC4A11 Gene Associated with Autosomal Recessive Congenital Hereditary Endothelial Dystrophy in a Large Saudi Family

V. Sheffield, E. Stone, J. Brandt, 2008, Ophthalmic genetics.

Animal models of exfoliation syndrome, now and future.

Michael G. Anderson, S. John, J. Fingert, 2014, Journal of glaucoma.

The Heritability of Pigment Dispersion Syndrome and Pigmentary Glaucoma.

Young H. Kwon, W. Alward, J. Fingert, 2019, American journal of ophthalmology.

Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)

V. Sheffield, E. Stone, B. Lam, 1996, Ophthalmic genetics.

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients

Adam P. DeLuca, Young H. Kwon, R. Ritch, 2017, Journal of glaucoma.

SQSTM1 Mutations and Glaucoma

Adam P. DeLuca, Young H. Kwon, T. Scheetz, 2016, PloS one.

Retinal ganglion cell death in glaucoma: mechanisms and neuroprotective strategies.

Young H. Kwon, J. Fingert, M. H. Kuehn, 2005, Ophthalmology clinics of North America.

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

V. Sheffield, E. Stone, R. Honkanen, 2007, American journal of ophthalmology.

Genetic correlations between diabetes and glaucoma: an analysis of continuous and dichotomous phenotypes.

Yeunjoo E. Song, Adriana I. Iglesias, F. Hu, 2019, American journal of ophthalmology.

Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders

T. Yorio, W. Alward, J. Fingert, 2010, Molecular vision.

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration

E. Stone, B. Tucker, E. Burnight, 2018, Progress in Retinal and Eye Research.

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Investigative ophthalmology & visual science.

Genetics DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014 .

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis

Yeunjoo E. Song, Adriana I. Iglesias, J. Haines, 2017, European Journal of Human Genetics.

Circumferential Iris Transillumination Defects in Exfoliation Syndrome

Young H. Kwon, Michael G. Anderson, W. Alward, 2013, Journal of glaucoma.

Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.

Edwin M Stone, Val C Sheffield, Abbot F Clark, 2008, The Journal of clinical investigation.

Exfoliation syndrome: assembling the puzzle pieces

L. Pasquale, R. Ritch, J. Wiggs, 2016, Acta ophthalmologica.

Study Supports Polygenic Nature of Glaucoma

J. Fingert, 2022 .

Alpha-gal syndrome (AGS) in a glaucoma suspect with narrow iridocorneal angles

J. Fingert, Aminatta Z. Tejan-Kamara, Joan M. Murhammer, 2023, American Journal of Ophthalmology Case Reports.

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

V. Sheffield, A. Bassuk, V. Mahajan, 2012, PLoS genetics.

Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells.

V. Sheffield, E. Stone, J. Fingert, 2001, Investigative ophthalmology & visual science.

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

Rebecca M. Johnson, V. Sheffield, T. Scheetz, 2008, Archives of ophthalmology.

Familial non-arteritic anterior ischemic optic neuropathy

E. Stone, S. Hayreh, J. Fingert, 2008, Graefe's Archive for Clinical and Experimental Ophthalmology.

A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci

V. Sheffield, T. Casavant, T. Scheetz, 2013, PloS one.

Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma

Young H. Kwon, Michael G. Anderson, E. Stone, 2012, Molecular vision.

Copy number variations and primary open-angle glaucoma.

Young H. Kwon, Edwin M Stone, Todd E Scheetz, 2011, Investigative ophthalmology & visual science.

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Young H. Kwon, J. L. Stone, V. Sheffield, 2011, Human molecular genetics.

Copy number variations on chromosome 12 q 14 in patients with normal tension glaucoma

Young H. Kwon, J. L. Stone, V. Sheffield, 2011 .

Myocilin glaucoma.

E. Stone, J. Fingert, Val C. Sheffield, 2002, Survey of ophthalmology.

Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head

Young H. Kwon, V. Sheffield, R. Swiderski, 2001, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

D. Mackey, A. Hewitt, E. Souzeau, 2022, medRxiv.

Microarray analysis of iris gene expression in mice with mutations influencing pigmentation.

Michael G. Anderson, J. Fingert, M. H. Kuehn, 2011, Investigative ophthalmology & visual science.

LADD syndrome with glaucoma is caused by a novel gene

Adam P. DeLuca, T. Scheetz, M. Schnieders, 2017, Molecular vision.

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Human Genetics.

Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).

Young H. Kwon, R. Ritch, T. Scheetz, 2016, Transactions of the American Ophthalmological Society.

Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort

Young H. Kwon, E. Stone, R. Mullins, 2011, Molecular vision.

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

M. Nöthen, M. Brown, Y. Teo, 2015, Nature Genetics.

Early-onset glaucoma

J. Fingert, Carly J. van der Heide, Matthew A. Miller, 2020, Genetics and Genomics of Eye Disease.

Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.

V. Sheffield, R. Swiderski, E. Stone, 2000, Investigative ophthalmology & visual science.

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Michael G. Anderson, J. Haines, M. Pericak-Vance, 2019, JAMA.

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.

M. Kass, M. Gordon, T. Scheetz, 2016, Ophthalmology.

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

S. R. Krishnadas, Chaw Chaw Khaing, Y. Teo, 2016, Nature Genetics.

Primary open-angle glaucoma genes

J. Fingert, J H Fingert, 2011, Eye.

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2017, Menopause.

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

Weinreb, Yutao, J. Haines, 2016, Investigative ophthalmology & visual science.

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

Margaret A. Pericak-Vance, Robert N. Weinreb, Peter Kraft, 2014, Human Genetics.

TBK1 gene duplication and normal-tension glaucoma.

R. Ritch, A. Robin, B. Darbro, 2014, JAMA ophthalmology.

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

J. Dickinson, D. Mackey, E. Stone, 2001, Ophthalmology.

Mendelian genes in primary open angle glaucoma.

J. Fingert, Nathan C. Sears, Erin A. Boese, 2019, Experimental eye research.

Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.

Chris A. Johnson, A. Robin, J. Fingert, 2020, American journal of ophthalmology.

CRISPR-Cas9–based treatment of myocilin-associated glaucoma

V. Sheffield, F. Ran, Winston X. Yan, 2017, Proceedings of the National Academy of Sciences.

Variations in the myocilin gene in patients with open-angle glaucoma.

Young H. Kwon, V. Sheffield, E. Stone, 2002, Archives of ophthalmology.

Diffusion Tensor Imaging of Visual Pathway Abnormalities in Five Glaucoma Animal Models

Kevin C. Chan, Leon C. Ho, G. Wollstein, 2021, Investigative ophthalmology & visual science.

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism

T. Scheetz, E. Stone, B. Tucker, 2018, Ophthalmic genetics.

Novel Intragenic FRMD7 Deletion in a Pedigree with Congenital X-Linked Nystagmus

E. Stone, J. Fingert, B. Roos, 2010, Ophthalmic genetics.

Statistical Tests for Detecting Rare Variants Using Variance‐Stabilising Transformations

Kai Wang, J. Fingert, 2012, Annals of human genetics.

Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene

J. Fingert, B. Roos, D. Terveen, 2017, Eye.

Genetic Analysis and Phenotypic Staging of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

V. Sheffield, A. Bassuk, V. Mahajan, 2011 .

The optic nerve head in myocilin glaucoma.

D. Mackey, E. Stone, A. Hewitt, 2007, Investigative ophthalmology & visual science.

Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure.

I. Pang, J. Fingert, A. Clark, 2008, Investigative ophthalmology & visual science.

Genetics and genetic testing for glaucoma

J. Fingert, Daniel I. Bettis, Matthew A. Miller, 2016, Current opinion in ophthalmology.

Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years.

E. Stone, H. Quigley, J. Fingert, 2022, JAMA ophthalmology.

Genetic Association between MMP9 and Choroidal Neovascularization in Age-Related Macular Degeneration

Ian C. Han, T. Scheetz, J. Folk, 2020, Ophthalmology science.

Evaluation of variants in the selectin genes in age-related macular degeneration

J. Folk, Jian Huang, E. Stone, 2011, BMC Medical Genetics.

Ethnic variation in AMD‐associated complement factor H polymorphism p.Tyr402His

R. Ritch, T. Scheetz, E. Stone, 2006, Human mutation.

Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus

D. Mackey, N. Howell, P. McCluskey, 2003, Eye.

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

V. Sheffield, E. Stone, S. Daiger, 2008, Ophthalmic genetics.

Duplication of TBK1 Stimulates Autophagy in iPSC-derived Retinal Cells from a Patient with Normal Tension Glaucoma

A. Robin, B. Tucker, R. Mullins, 2014, Journal of stem cell research & therapy.

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.

D. Mackey, S. Graham, A. Hewitt, 2015, American journal of ophthalmology.

TBK1 and Flanking Genes in Human Retina

A. Robin, B. Darbro, R. Mullins, 2014, Ophthalmic genetics.

Identification of Proteins that Interact with TANK Binding Kinase 1 and Testing for Mutations Associated with Glaucoma

Young H. Kwon, E. Stone, A. Robin, 2013, Current eye research.

Reduced frequency of known mutations in a cohort of LHON patients from India

J. Fingert, Periasamy Sundaresan, S. Thompson, 2010, Ophthalmic genetics.

Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells.

S. Russell, E. Stone, R. Mullins, 2010, Investigative ophthalmology & visual science.

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

Sara W. Bird, Erinna F. Lee, Michael D. Kim, 2016 .

Exome-based investigation of the genetic basis of human pigmentary glaucoma

Adam P. DeLuca, Young H. Kwon, Michael G. Anderson, 2021, BMC Genomics.

Mitochondrial Variant G4132A is Associated with Familial Non-Arteritic Anterior Ischemic Optic Neuropathy in One Large Pedigree

V. Sheffield, E. Stone, S. Hayreh, 2007, Ophthalmic genetics.

Correction: Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

M. Nöthen, M. Brown, Y. Teo, 2015, Nature Genetics.

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos

T. Scheetz, E. Stone, W. Alward, 2015, Molecular vision.

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

Young H. Kwon, V. Sheffield, E. Stone, 2006, Ophthalmic genetics.

Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping.

E. Stone, R. Honkanen, L. Jampol, 2007, American journal of ophthalmology.

Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology

P. Bernstein, Leah A. Owen, M. DeAngelis, 2019, BMC Medical Genetics.

Heterozygous Triplication of Upstream Regulatory Sequences Leads to Dysregulation of Matrix Metalloproteinase 19 in Patients with Cavitary Optic Disc Anomaly

Young H. Kwon, T. Scheetz, E. Stone, 2015, Human mutation.

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes

Mallory R. Tollefson, M. Schnieders, B. Darbro, 2020, Current eye research.

Familial normal tension glaucoma genetics

J. Fingert, Austin Fox, 2023, Progress in Retinal and Eye Research.

Myocilin Mutations in Patients With Normal-Tension Glaucoma

Young H. Kwon, L. Pasquale, R. Ritch, 2019, JAMA ophthalmology.

Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye.

Michael G. Anderson, E. Stone, R. Mullins, 2018, Ophthalmology. Glaucoma.

Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape.

Young H. Kwon, Michael D Abràmoff, Li Tang, 2010, Investigative ophthalmology & visual science.

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

Edwin M Stone, David A Mackey, Jamie E Craig, 2003, Archives of ophthalmology.

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area.

E. Stone, Y. Buys, G. Trope, 2000, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

D. Mackey, A. Hewitt, J. Craig, 2007, Archives of ophthalmology.

Optical Coherence Tomography Analysis Based Prediction of Humphrey 24-2 Visual Field Thresholds in Patients With Glaucoma

Milan Sonka, Andreas Wahle, Mona K. Garvin, 2017, Investigative ophthalmology & visual science.

Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy

M. Larsen, T. Scheetz, E. Stone, 2010, Molecular vision.

Recombinant adenovirus causes prolonged mobilization of macrophages in the anterior chambers of mice

Michael G. Anderson, J. Fingert, A. Hedberg-Buenz, 2021, bioRxiv.

Enhanced depth imaging optical coherence tomography of congenital cavitary optic disc anomaly (CODA)

L. Jampol, E. Simjanoski, J. Fingert, 2014, British Journal of Ophthalmology.

Prevalence of Open-angle Glaucoma in the Faroese Population

T. Rosenberg, H. Vorum, J. Fingert, 2021, Journal of glaucoma.

GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.

Mallory R. Tollefson, T. Scheetz, E. Stone, 2023, JAMA ophthalmology.

Nanophthalmos patient with a THR518MET mutation in MYRF, a case report

Young H. Kwon, M. Schnieders, J. Fingert, 2020, BMC Ophthalmology.

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, PLoS genetics.

Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.

V. Sheffield, E. Stone, J. Fingert, 1999, Archives of ophthalmology.

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

J. Dickinson, L. FitzGerald, D. Mackey, 2002, Human mutation.

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Adam P. DeLuca, T. Scheetz, J. Folk, 2016, Ophthalmology.

Copy number variations and primary open-angle glaucoma.

Young H. Kwon, V. Sheffield, T. Wassink, 2011, Investigative Ophthalmology and Visual Science.

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Young H. Kwon, J. L. Stone, V. Sheffield, 2011, Human molecular genetics.

Primary open-angle glaucoma.

Young H. Kwon, W. Alward, J. Fingert, 2009, The New England journal of medicine.

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Eye.

Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.

J. Fingert, C. M. Taylor, E. Stone, 1999, Archives of ophthalmology.

Gonioscopy-assisted transluminal trabeculotomy (GATT) for myocilin juvenile glaucoma.

W. Alward, J. Fingert, Erin A. Boese, 2021, Ophthalmology. Glaucoma.

Automated segmentation of the optic disc from stereo color photographs using physiologically plausible features.

Young H. Kwon, M. Abràmoff, L. Shuba, 2007, Investigative ophthalmology & visual science.

Heritable features of the optic disc: a novel twin method for determining genetic significance.

Catherine M. Green, P. Kaufman, N. Newman, 2007, Investigative ophthalmology & visual science.

Progressive optic disc cupping over 20 years in a patient with TBK1-associated glaucoma.

B. Darbro, W. Alward, J. Fingert, 2020, Ophthalmology. Glaucoma.