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Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.
Published in:
2008
By:
- Wang, Wan-Heng;
- McNatt, Loretta G;
- Pang, Iok-Hou;
- Millar, J Cameron;
- Hellberg, Peggy E;
- Hellberg, Mark H;
- Steely, H Thomas;
- Rubin, Jeffrey S;
- Fingert, John H;
- Sheffield, Val C;
- Stone, Edwin M;
- Clark, Abbot F
Publication type:
journal article
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.
Published in:
Journal of Clinical Investigation, 2008, v. 118, n. 3, p. 1056
By:
- Wan-Heng Wang;
- McNatt, Loretta G.;
- Iok-Hou Pang;
- Millar, J. Cameron;
- Hellberg, Peggy E.;
- Hellberg, Mark H.;
- Steely, H. Thomas;
- Rubin, Jeffrey S.;
- Fingert, John H.;
- Sheffield, Val C.;
- Stone, Edwin M.;
- Clark, Abbot F.
Publication type:
Article
Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ.
Published in:
Scientific Reports, 2016, p. 26559, doi. 10.1038/srep26559
By:
- Zarei, Kasra;
- Scheetz, Todd E.;
- Christopher, Mark;
- Miller, Kathy;
- Hedberg-Buenz, Adam;
- Tandon, Anamika;
- Anderson, Michael G.;
- Fingert, John H.;
- Abràmoff, Michael David
Publication type:
Article
A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058657
By:
- Scheetz, Todd E.;
- Fingert, John H.;
- Wang, Kai;
- Kuehn, Markus H.;
- Knudtson, Kevin L.;
- Alward, Wallace L. M.;
- Boldt, H. Culver;
- Russell, Stephen R.;
- Folk, James C.;
- Casavant, Thomas L.;
- Braun, Terry A.;
- Clark, Abbot F.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article
Chimeric Helper-Dependent Adenoviruses Transduce Retinal Ganglion Cells and Müller Cells in Human Retinal Explants.
Published in:
2021
By:
- Han, Ian C.;
- Burnight, Erin R.;
- Kaalberg, Emily E.;
- Boyce, Timothy M.;
- Stone, Edwin M.;
- Fingert, John H.;
- Mullins, Robert F.;
- Tucker, Budd A.;
- Wiley, Luke A.
Publication type:
journal article
Genome-wide analysis of copy number variants in age-related macular degeneration.
Published in:
Human Genetics, 2011, v. 129, n. 1, p. 91, doi. 10.1007/s00439-010-0904-6
By:
- Meyer, Kacie J.;
- Davis, Lea K.;
- Schindler, Emily I.;
- Beck, John S.;
- Rudd, Danielle S.;
- Grundstad, A. Jason;
- Scheetz, Todd E.;
- Braun, Terry A.;
- Fingert, John H.;
- Alward, Wallace L.;
- Kwon, Young H.;
- Folk, James C.;
- Russell, Stephen R.;
- Wassink, Thomas H.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article
Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0800-4
By:
- Hwang, Eileen S.;
- Morgan, Denise J.;
- Pennington, Katie L.;
- Owen, Leah A.;
- Fingert, John H.;
- Bernstein, Paul S.;
- DeAngelis, Margaret M.
Publication type:
Article
GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.
Published in:
JAMA Ophthalmology, 2023, v. 141, n. 9, p. 872, doi. 10.1001/jamaophthalmol.2023.3535
By:
- Boese, Erin A.;
- Drack, Arlene V.;
- Roos, Benjamin R.;
- Alward, Wallace L. M.;
- Tollefson, Mallory R.;
- Schnieders, Michael J.;
- Scheetz, Todd E.;
- Boldt, H. Culver;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
Article
Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years.
Published in:
2022
By:
- Quigley, Harry A.;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
journal article
Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.
Published in:
2019
By:
- Fan, Bao Jian;
- Bailey, Jessica Cooke;
- Igo, Rob P.;
- Kang, Jae H.;
- Boumenna, Tahani;
- Brilliant, Murray H.;
- Budenz, Donald L.;
- Fingert, John H.;
- Gaasterland, Terry;
- Gaasterland, Douglas;
- Hauser, Michael A.;
- Kraft, Peter;
- Lee, Richard K.;
- Lichter, Paul R.;
- Liu, Yutao;
- Moroi, Syoko E.;
- Myers, Jonathan S.;
- Pericak-Vance, Margaret A.;
- Realini, Anthony;
- Rhee, Douglas J.
Publication type:
journal article
Myocilin Mutations in Patients With Normal-Tension Glaucoma.
Published in:
2019
By:
- Alward, Wallace L. M.;
- van der Heide, Carly;
- Khanna, Cheryl L.;
- Roos, Ben R.;
- Sivaprasad, Sobha;
- Kam, Jason;
- Ritch, Robert;
- Lotery, Andrew;
- Igo, Robert P.;
- Cooke Bailey, Jessica N.;
- Stone, Edwin M.;
- Scheetz, Todd E.;
- Kwon, Young H.;
- Pasquale, Louis R.;
- Wiggs, Janey L.;
- Fingert, John H.;
- Igo, Robert P Jr;
- NEIGHBORHOOD Consortium
Publication type:
journal article
Penetrance of Myocilin Mutations-Who Gets Glaucoma?
Published in:
2019
By:
- Fingert, John H.
Publication type:
journal article
Thin Central Corneal Thickness and Early-Onset Glaucoma in Lacrimo-auriculo-dento-digital Syndrome.
Published in:
2014
By:
- Tandon, Anamika;
- Tehrani, Shandiz;
- Greiner, Mark A;
- Fingert, John H;
- Alward, Wallace L M
Publication type:
Journal Article
Thin Central Corneal Thickness and Early-Onset Glaucomain Lacrimo-auriculo-dento-digital Syndrome.
Published in:
JAMA Ophthalmology, 2014, v. 132, n. 6, p. 782, doi. 10.1001/jamaophthalmol.2014.306
By:
- Tandon, Anamika;
- Tehrani, Shandiz;
- Greiner, Mark A.;
- Fingert, John H.;
- Alward, Wallace L. M.
Publication type:
Article
TBK1 Gene Duplication and Normal-Tension Glaucoma.
Published in:
JAMA Ophthalmology, 2014, v. 132, n. 5, p. 544, doi. 10.1001/jamaophthalmol.2014.104
By:
- Ritch, Robert;
- Darbro, Ben;
- Menon, Geeta;
- Khanna, Cheryl L.;
- Solivan-Timpe, Frances;
- Roos, Ben R.;
- Sarfarzi, Mansoor;
- Kawase, Kazuhide;
- Yamamoto, Tetsuya;
- Robin, Alan L.;
- Lotery, Andrew J.;
- Fingert, John H.
Publication type:
Article
Statistical Tests for Detecting Rare Variants Using Variance-Stabilising Transformations.
Published in:
Annals of Human Genetics, 2012, v. 76, n. 5, p. 402, doi. 10.1111/j.1469-1809.2012.00718.x
By:
- Wang, Kai;
- Fingert, John H.
Publication type:
Article
TANK-BINDING KINASE 1 (TBK1) GENE AND OPEN-ANGLE GLAUCOMAS (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS).
Published in:
Transactions of the American Ophthalmological Society, 2016, v. 114, p. 1
By:
- Fingert, John H.;
- Robin, Alan L.;
- Scheetz, Todd E.;
- Kwon, Young H.;
- Liebmann, Jeffrey M.;
- Ritch, Robert;
- Alward, Wallace L. M.
Publication type:
Article
Recombinant adenovirus causes prolonged mobilization of macrophages in the anterior chambers of mice.
Published in:
Molecular Vision, 2021, v. 27, p. 741
By:
- Meyer, Kacie J.;
- Pellack, Danielle;
- Hedberg-Buenz, Adam;
- Pomernackas, Nicholas;
- Soukup, Dana;
- Kai Wang;
- Fingert, John H.;
- Anderson, Michael G.
Publication type:
Article
LADD syndrome with glaucoma is caused by a novel gene.
Published in:
Molecular Vision, 2017, v. 23, p. 179
By:
- Simpson, Allie;
- Avdic, Armin;
- Roos, Ben R.;
- DeLuca, Adam;
- Miller, Kathy;
- Schnieders, Michael J.;
- Scheetz, Todd E.;
- Alward, Wallace L. M.;
- Fingert, John H.
Publication type:
Article
MMP19 expression in the human optic nerve.
Published in:
Molecular Vision, 2016, v. 22, p. 1
By:
- Chirco, Kathleen R.;
- Hazlewood, Ralph J.;
- Miller, Kathy;
- Workalemahu, Grefachew;
- Jampol, Lee M.;
- Lesser, G. Robert;
- Mullins, Robert F.;
- Kuehn, Markus H.;
- Fingert, John H.
Publication type:
Article
Primary congenital and developmental glaucomas.
Published in:
Human Molecular Genetics, 2017, v. 26, p. R28, doi. 10.1093/hmg/ddx205
By:
- Lewis, Carly J.;
- Hedberg-Buenz, Adam;
- DeLuca, Adam P.;
- Stone, Edwin M.;
- Alward, Wallace L. M.;
- Fingert, John H.
Publication type:
Article
Transgenic TBK1 mice have features of normal tension glaucoma.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 1, p. 124, doi. 10.1093/hmg/ddw372
By:
- Fingert, John H.;
- Miller, Kathy;
- Hedberg-Buenz, Adam;
- Roos, Ben R.;
- Lewis, Carly J.;
- Mullins, Robert F.;
- Anderson, Michael G.
Publication type:
Article
Analysis of ASB10 variants in open angle glaucoma.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 20, p. 4543, doi. 10.1093/hmg/dds288
By:
- Fingert, John H.;
- Roos, Ben R.;
- Solivan-Timpe, Frances;
- Miller, Kathy A.;
- Oetting, Thomas A.;
- Wang, Kai;
- Kwon, Young H.;
- Scheetz, Todd E.;
- Stone, Edwin M.;
- Alward, Wallace L.M.
Publication type:
Article
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 12, p. 2482, doi. 10.1093/hmg/ddr123
By:
- Fingert, John H.;
- Robin, Alan L.;
- Stone, Jennifer L.;
- Roos, Ben R.;
- Davis, Lea K.;
- Scheetz, Todd E.;
- Bennett, Steve R.;
- Wassink, Thomas H.;
- Kwon, Young H.;
- Alward, Wallace L.M.;
- Mullins, Robert F.;
- Sheffield, Val C.;
- Stone, Edwin M.
Publication type:
Article
Exfoliation syndrome: assembling the puzzle pieces.
Published in:
Acta Ophthalmologica (1755375X), 2016, v. 94, n. 6, p. e505, doi. 10.1111/aos.12918
By:
- Pasquale, Louis R.;
- Borrás, Terete;
- Fingert, John H.;
- Wiggs, Janey L.;
- Ritch, Robert
Publication type:
Article
SQSTM1 Mutations and Glaucoma.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0156001
By:
- Scheetz, Todd E.;
- Roos, Ben R.;
- Solivan-Timpe, Frances;
- Miller, Kathy;
- DeLuca, Adam P.;
- Stone, Edwin M.;
- Kwon, Young H.;
- Alward, Wallace L. M.;
- Wang, Kai;
- Fingert, John H.
Publication type:
Article
Cell–Matrix Interactions in the Eye: From Cornea to Choroid.
Published in:
Cells (2073-4409), 2021, v. 10, n. 3, p. 687, doi. 10.3390/cells10030687
By:
- Pouw, Andrew E.;
- Greiner, Mark A.;
- Coussa, Razek G.;
- Jiao, Chunhua;
- Han, Ian C.;
- Skeie, Jessica M.;
- Fingert, John H.;
- Mullins, Robert F.;
- Sohn, Elliott H.;
- Turowski, Patric;
- Dragoni, Silvia
Publication type:
Article
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.
Published in:
2020
By:
- Hagedorn, Joshua;
- Avdic, Armin;
- Schnieders, Michael J.;
- Roos, Benjamin R.;
- Kwon, Young H.;
- Drack, Arlene V.;
- Boese, Erin A.;
- Fingert, John H.
Publication type:
journal article
Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration.
Published in:
PLoS Genetics, 2012, v. 8, n. 10, p. 1, doi. 10.1371/journal.pgen.1003001
By:
- Mahajan, Vinit B.;
- Skeie, Jessica M.;
- Bassuk, Alexander G.;
- Fingert, John H.;
- Braun, Terry A.;
- Daggett, Heather T.;
- Folk, James C.;
- Sheffield, Val C.;
- Stone, Edwin M.
Publication type:
Article
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2170, doi. 10.1002/humu.24482
By:
- Burdon, Kathryn P.;
- Graham, Patricia;
- Hadler, Johanna;
- Hulleman, John D.;
- Pasutto, Francesca;
- Boese, Erin A.;
- Craig, Jamie E.;
- Fingert, John H.;
- Hewitt, Alex W.;
- Siggs, Owen M.;
- Whisenhunt, Kristina;
- Young, Terri L.;
- Mackey, David A.;
- Dubowsky, Andrew;
- Souzeau, Emmanuelle
Publication type:
Article
Heterozygous Triplication of Upstream Regulatory Sequences Leads to Dysregulation of Matrix Metalloproteinase 19 in Patients with Cavitary Optic Disc Anomaly.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 369, doi. 10.1002/humu.22754
By:
- Hazlewood, Ralph J.;
- Roos, Benjamin R.;
- Solivan‐Timpe, Frances;
- Honkanen, Robert A.;
- Jampol, Lee M.;
- Gieser, Stephen C.;
- Meyer, Kacie J.;
- Mullins, Robert F.;
- Kuehn, Markus H.;
- Scheetz, Todd E.;
- Kwon, Young H.;
- Alward, Wallace L.M.;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
Article
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.
Published in:
Human Mutation, 2006, v. 27, n. 9, p. 921, doi. 10.1002/humu.20359
By:
- Grassi, Michael A.;
- Fingert, John H.;
- Scheetz, Todd E.;
- Roos, Benjamin R.;
- Ritch, Robert;
- West, Sheila K.;
- Kawase, Kazuhide;
- Shire, Abdirashid M.;
- Mullins, Robert F.;
- Stone, Edwin M.
Publication type:
Article
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 2, p. 117, doi. 10.1093/hmg/10.2.117
By:
- Jacobson, Nasreen;
- Andrews, Michael;
- Shepard, Allan R.;
- Nishimura, Darryl;
- Searby, Charles;
- Fingert, John H.;
- Hageman, Greg;
- Mullins, Robert;
- Davidson, Beverly L.;
- Kwon, Young H.;
- Alward, W. L. M.;
- Stone, Edwin M.;
- Clark, Abbot F.;
- Sheffield, Val C.
Publication type:
Article
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
Published in:
Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9066
By:
- Sale, Michèle M.;
- Craig, Jamie E.;
- Charlesworth, Jacinta C.;
- FitzGerald, Liesel M.;
- Hanson, Isabel M.;
- Dickinson, Joanne L.;
- Matthews, Sarah J.;
- Heyningen, Veronica van;
- Fingert, John H.;
- Mackey, David A.
Publication type:
Article
Mechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-43072-3
By:
- Liu, Wendy W.;
- Kinzy, Tyler G.;
- Cooke Bailey, Jessica N.;
- Xu, Zihe;
- Hysi, Pirro;
- Wiggs, Janey L.;
- NEIGHBORHOOD Consortium;
- Allingham, R. Rand;
- Brilliant, Murray;
- Budenz, Donald L.;
- Fingert, John H.;
- Gaasterland, Douglas;
- Gaasterland, Teresa;
- Haines, Jonathan L.;
- Hauser, Michael A.;
- Lee, Richard K.;
- Lichter, Paul R.;
- Liu, Yutao;
- Moroi, Syoko;
- Myers, Jonathan
Publication type:
Article
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 5, p. 899, doi. 10.1093/hmg/8.5.899
By:
- Fingert, John H.;
- Héon, Elise;
- Liebmann, Jeffrey M.;
- Yamamoto, Tetsuya;
- Craig, Jamie E.;
- Rait, Julian;
- Kawase, Kazuhide;
- Hoh, Sek-Tien;
- Buys, Yvonne M.;
- Dickinson, Joanne;
- Hockey, Robin R.;
- Williams-Lyn, Donna;
- Trope, Graham;
- Kitazawa, Yoshiaki;
- Ritch, Robert;
- Mackey, David A.;
- Alward, Wallace L. M.;
- Sheffield, Val C.;
- Stone, Edwin M.
Publication type:
Article
Evaluation of variants in the selectin genes in age-related macular degeneration.
Published in:
BMC Medical Genetics, 2011, v. 12, n. 1, p. 58, doi. 10.1186/1471-2350-12-58
By:
- Mullins, Robert F.;
- Skeie, Jessica M.;
- Folk, James C.;
- Solivan-Timpe, Frances M.;
- Oetting, Thomas A.;
- Jian Huang;
- Kai Wang;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
Article

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