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Gene editing

  • Germline mutations in WNK2 could be associated with serrated polyposis syndrome
    Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel
    Journal of Medical Genetics Jun 2023, 60 (6) 557-567; DOI: 10.1136/jmg-2022-108684
  • Gene editing as a promising approach for respiratory diseases
    Yichun Bai, Yang Liu, Zhenlei Su, Yana Ma, Chonghua Ren, Runzhen Zhao, Hong-Long Ji
    Journal of Medical Genetics Mar 2018, 55 (3) 143-149; DOI: 10.1136/jmedgenet-2017-104960
  • Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia
    Michele Lai, Massimo Pifferi, Andrew Bush, Martina Piras, Angela Michelucci, Maria Di Cicco, Ambra del Grosso, Paola Quaranta, Chiara Cursi, Elena Tantillo, Sara Franceschi, Maria Chiara Mazzanti, Paolo Simi, Giuseppe Saggese, Attilio Boner, Mauro Pistello
    Journal of Medical Genetics Apr 2016, 53 (4) 242-249; DOI: 10.1136/jmedgenet-2015-103539