A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy

por Wieben, Eric D., Aleff, Ross A., Tosakulwong, Nirubol, Butz, Malinda L., Highsmith, W. Edward, Edwards, Albert O., Baratz, Keith H.
Publicado 2012

Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4

por Wieben, Eric D., Aleff, Ross A., Tang, Xiaojia, Kalari, Krishna R., Maguire, Leo J., Patel, Sanjay V., Baratz, Keith H., Fautsch, Michael P.
Publicado 2018

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy

por Wieben, Eric D., Baratz, Keith H., Aleff, Ross A., Kalari, Krishna R., Tang, Xiaojia, Maguire, Leo J., Patel, Sanjay V., Fautsch, Michael P.
Publicado 2019

Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy

por Wieben, Eric D., Aleff, Ross A., Rinkoski, Tommy A., Baratz, Keith H., Basu, Shubham, Patel, Sanjay V., Maguire, Leo J., Fautsch, Michael P.
Publicado 2021

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1

por Winkler, Nelson S., Milone, Margherita, Martinez-Thompson, Jennifer M., Raja, Harish, Aleff, Ross A., Patel, Sanjay V., Fautsch, Michael P., Wieben, Eric D., Baratz, Keith H.
Publicado 2018

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

por Niu, Zhiyv, Pontifex, Carly Sabine, Berini, Sarah, Hamilton, Leslie E., Naddaf, Elie, Wieben, Eric, Aleff, Ross A., Martens, Kristina, Gruber, Angela, Engel, Andrew G., Pfeffer, Gerald, Milone, Margherita
Publicado 2018

RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy

por Du, Jintang, Aleff, Ross A., Soragni, Elisabetta, Kalari, Krishna, Nie, Jinfu, Tang, Xiaojia, Davila, Jaime, Kocher, Jean-Pierre, Patel, Sanjay V., Gottesfeld, Joel M., Baratz, Keith H., Wieben, Eric D.
Publicado 2015

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy

por Wieben, Eric D., Aleff, Ross A., Tang, Xiaojia, Butz, Malinda L., Kalari, Krishna R., Highsmith, Edward W., Jen, Jin, Vasmatzis, George, Patel, Sanjay V., Maguire, Leo J., Baratz, Keith H., Fautsch, Michael P.
Publicado 2017

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

por Xu, Timothy T., Li, Yi-Ju, Afshari, Natalie A., Aleff, Ross A., Rinkoski, Tommy A., Patel, Sanjay V., Maguire, Leo J., Edwards, Albert O., Brown, William L., Fautsch, Michael P., Wieben, Eric D., Baratz, Keith H.
Publicado 2021

Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy

por Wieben, Eric D., Aleff, Ross A., Basu, Shubham, Sarangi, Vivekananda, Bowman, Brett, McLaughlin, Ian J., Mills, John R., Butz, Malinda L., Highsmith, Edward W., Ida, Cristiane M., Ekholm, Jenny M., Baratz, Keith H., Fautsch, Michael P.
Publicado 2019

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

por DeJesus-Hernandez, Mariely, Aleff, Ross A, Jackson, Jazmyne L, Finch, NiCole A, Baker, Matthew C, Gendron, Tania F, Murray, Melissa E, McLaughlin, Ian J, Harting, John R, Graff-Radford, Neill R, Oskarsson, Björn, Knopman, David S, Josephs, Keith A, Boeve, Bradley F, Petersen, Ronald C, Fryer, John D, Petrucelli, Leonard, Dickson, Dennis W, Rademakers, Rosa, Ebbert, Mark T W, Wieben, Eric D, van Blitterswijk, Marka
Publicado 2021