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

by Eileen S. Hwang, Denise J. Morgan, Katie L. Pennington, Leah A. Owen, John H. Fingert, Paul S. Bernstein, Margaret M. DeAngelis
Published 2019-04-01

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

by Joshua Hagedorn, Armin Avdic, Michael J. Schnieders, Benjamin R. Roos, Young H. Kwon, Arlene V. Drack, Erin A. Boese, John H. Fingert
Published 2020-10-01

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

by Vinit B Mahajan, Jessica M Skeie, Alexander G Bassuk, John H Fingert, Terry A Braun, Heather T Daggett, James C Folk, Val C Sheffield, Edwin M Stone
Published 2012-01-01

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

by Andrew E Pouw, Mark A Greiner, Razek G Coussa, Chunhua Jiao, Ian C Han, Jessica M Skeie, John H Fingert, Robert F Mullins, Elliott H Sohn
Published 2021-03-01

SQSTM1 Mutations and Glaucoma.

by Todd E Scheetz, Ben R Roos, Frances Solivan-Timpe, Kathy Miller, Adam P DeLuca, Edwin M Stone, Young H Kwon, Wallace L M Alward, Kai Wang, John H Fingert
Published 2016-01-01

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.

by Todd E Scheetz, John H Fingert, Kai Wang, Markus H Kuehn, Kevin L Knudtson, Wallace L M Alward, H Culver Boldt, Stephen R Russell, James C Folk, Thomas L Casavant, Terry A Braun, Abbot F Clark, Edwin M Stone, Val C Sheffield
Published 2013-01-01

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

by Elliott H. Sohn, MD, Ian C. Han, MD, Benjamin R. Roos, BS, Benjamin Faga, BS, Meagan A. Luse, BS, Elaine M. Binkley, MD, H. Culver Boldt, MD, James C. Folk, MD, Stephen R. Russell, MD, Robert F. Mullins, PhD, John H. Fingert, MD, PhD, Edwin M. Stone, MD, PhD, Todd E. Scheetz, PhD
Published 2021-03-01

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

by Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert
Published 2021-06-01

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

by Natalie A. Afshari, Robert P. Igo, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V. Lakshmi Pulagam, Steven Dunn, John F. Stamler, Barbara J. Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass, Yi-Ju Li, Sudha K. Iyengar
Published 2017-03-01