Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously M...

por Lin, Benjamin R., Le, Derek J., Chen, Yabin, Wang, Qiwei, Chung, D. Doug, Frausto, Ricardo F., Croasdale, Christopher, Yee, Richard W., Hejtmancik, Fielding J., Aldave, Anthony J.
Publicado 2016

Differing Roles for TCF4 and COL8A2 in Central Corneal Thickness and Fuchs Endothelial Corneal Dystrophy

por Igo, Robert P., Kopplin, Laura J., Joseph, Peronne, Truitt, Barbara, Fondran, Jeremy, Bardenstein, David, Aldave, Anthony J., Croasdale, Christopher R., Price, Marianne O., Rosenwasser, Miriam, Lass, Jonathan H., Iyengar, Sudha K.
Publicado 2012

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

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