A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

by Eric D Wieben, Ross A Aleff, Nirubol Tosakulwong, Malinda L Butz, W Edward Highsmith, Albert O Edwards, Keith H Baratz
Published 2012-01-01

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

by Eric D Wieben, Ross A Aleff, Xiaojia Tang, Krishna R Kalari, Leo J Maguire, Sanjay V Patel, Keith H Baratz, Michael P Fautsch
Published 2018-01-01

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

by Eric D Wieben, Ross A Aleff, Shubham Basu, Vivekananda Sarangi, Brett Bowman, Ian J McLaughlin, John R Mills, Malinda L Butz, Edward W Highsmith, Cristiane M Ida, Jenny M Ekholm, Keith H Baratz, Michael P Fautsch
Published 2019-01-01

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

by Zhiyv Niu, Zhiyv Niu, Carly Sabine Pontifex, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Gerald Pfeffer, Margherita Milone
Published 2018-03-01