X-Linked Genetic Diseases

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression
Betiana Michelle Ziegler, Miguel Martin Abelleyro, Vanina Daniela Marchione, Nicolás Lazarte, Martín Manuel Ledesma, Ludmila Elhelou, Daniela Neme, Liliana Carmen Rossetti, Enrique Medina-Acosta, Florencia Giliberto, Carlos De Brasi, Claudia Pamela Radic

Journal of Medical Genetics Aug 2024, 61 (8) 769-776; DOI: 10.1136/jmg-2024-109902
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Lucie Thomas, Laurence Cuisset, Jean-Francois Papon, Aline Tamalet, Isabelle Pin, Rola Abou Taam, Catherine Faucon, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Florence Dastot - Le Moal, Bruno Copin, Nathalie Carion, Bruno Louis, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Rana Mitri, André Coste, Estelle Escudier, Guillaume Thouvenin, Serge Amselem, Marie Legendre

Journal of Medical Genetics Jun 2024, 61 (6) 595-604; DOI: 10.1136/jmg-2023-109700

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