Titin copy number variations associated with dominant inherited phenotypes
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A Genetti, Minttu Marttila, Michel Koenig, Alan H Beggs, Bjarne Udd, Gisèle Bonne, Mireille Cossée
Journal of Medical Genetics Apr 2024, 61 (4) 369-377; DOI: 10.1136/jmg-2023-109473