TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease

por Fautsch, Michael P., Wieben, Eric D., Baratz, Keith H., Bhattacharyya, Nihar, Sadan, Amanda N., Hafford-Tear, Nathaniel J., Tuft, Stephen J., Davidson, Alice E.
Publicado 2021

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

por Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyson A., Davidson, Alice E.
Publicado 2019

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

por Zarouchlioti, Christina, Sanchez-Pintado, Beatriz, Hafford Tear, Nathaniel J., Klein, Pontus, Liskova, Petra, Dulla, Kalyan, Semo, Ma’ayan, Vugler, Anthony A., Muthusamy, Kirithika, Dudakova, Lubica, Levis, Hannah J., Skalicka, Pavlina, Hysi, Pirro, Cheetham, Michael E., Tuft, Stephen J., Adamson, Peter, Hardcastle, Alison J., Davidson, Alice E.
Publicado 2018

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

por Taylor, Alysha S, Barros, Dinis, Gobet, Nastassia, Schuepbach, Thierry, McAllister, Branduff, Aeschbach, Lorene, Randall, Emma L, Trofimenko, Evgeniya, Heuchan, Eleanor R, Barszcz, Paula, Ciosi, Marc, Morgan, Joanne, Hafford-Tear, Nathaniel J, Davidson, Alice E, Massey, Thomas H, Monckton, Darren G, Jones, Lesley, network, REGISTRY Investigators of the European Huntington’s disease, Xenarios, Ioannis, Dion, Vincent
Publicado 2022