Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy

Authors: Liskova, Petra, Hafford‐Tear, Nathaniel J., Skalicka, Pavlina, Malinka, Frantisek, Jedlickova, Jana, Ďuďáková, Ľubica, Pontikos, Nikolas, Davidson, Alice E, Tuft, Stephen

Source: Acta ophthalmologica. 100(7):e1426-e1430

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165334338.0x000001&indx=1&recIds=ETOCvdc_100165334338.0x000001

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

Authors: Bhattacharyya, Nihar¹, Chai, Niuzheng¹, Hafford-Tear, Nathaniel J.¹, Sadan, Amanda N.¹, Szabo, Anita¹, Zarouchlioti, Christina¹, Jedlickova, Jana², Leung, Szi Kay³, Liao, Tianyi¹, Dudakova, Lubica², Skalicka, Pavlina^2,4, Parekh, Mohit¹, Moghul, Ismail^1,5, Jeffries, Aaron R.³, Cheetham, Michael E.¹, Muthusamy, Kirithika⁵, Hardcastle, Alison J.^1,5, Pontikos, Nikolas^1,5, Liskova, Petra^2,4, Tuft, Stephen J.^1,5

Source: PLoS Genetics; 5/7/2024, Vol. 20 Issue 5, p1-27, 27p

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

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

Source: In Progress in Retinal and Eye Research March 2021 81

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

Authors: 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.

Source: In Genetics in Medicine September 2019 21(9):2092-2102

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

Authors: Dudakova, Lubica, Evans, Cerys J., Pontikos, Nikolas, Hafford-Tear, Nathaniel J., Malinka, Frantisek, Skalicka, Pavlina, Horinek, Ales, Munier, Francis L., Voide, Nathalie, Studeny, Pavel, Vanikova, Lucia, Kubena, Tomas, Rojas Lopez, Karla E., Davidson, Alice E., Hardcastle, Alison J., Tuft, Stephen J., Liskova, Petra

Source: In Experimental Eye Research May 2019 182:160-166

CUGC for posterior polymorphous corneal dystrophy (PPCD)

Authors: Davidson, Alice E., Hafford-Tear, Nathaniel J., Dudakova, Lubica, Sadan, Amanda N., Pontikos, Nikolas, Hardcastle, Alison J., Tuft, Stephen J., Liskova, Petra

Source: European journal of human genetics. 28(1):126-131

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193279890.0x000001&indx=1&recIds=ETOCvdc_100193279890.0x000001

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

Authors: 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.

Source: In The American Journal of Human Genetics 5 April 2018 102(4):528-539

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

Authors: 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

Source: NAR Genomics & Bioinformatics; Dec2022, Vol. 4 Issue 4, p1-11, 11p

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4triplet repeat

Authors: 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.

Source: Genetics in Medicine; September 2019, Vol. 21 Issue: 9 p2092-2102, 11p