Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingResearch in context by Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Siyin Liu, Marcos Abreu Costa, Anita Szabo, Amanda N. Sadan, Albert S. Jun, Enrico Bugiardini, Henry Houlden, Andrea Cortese, Pavlina Skalicka, Lubica Dudakova, Kirithika Muthusamy, Michael E. Cheetham, Alison J. Hardcastle, Petra Liskova, Stephen J. Tuft, Alice E. Davidson

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease. by Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson

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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach by Suzanne E. de Bruijn, Daan M. Panneman, Nicole Weisschuh, Elizabeth L. Cadena, Erica G. M. Boonen, Lara K. Holtes, Galuh D. N. Astuti, Frans P. M. Cremers, Nico Leijsten, Jordi Corominas, Christian Gilissen, Anna Skowronska, Jessica Woodley, Andrew D. Beggs, Vasileios Toulis, Di Chen, Michael E. Cheetham, Alison J. Hardcastle, Terri L. McLaren, Terri L. McLaren, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Fred K. Chen, Fred K. Chen, John N. de Roach, John N. de Roach, Isabella R. Urwin, Lori S. Sullivan, Susanne Roosing

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