De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Titel:
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Auteur:
Küry, Sébastien Besnard, Thomas Ebstein, Frédéric Khan, Tahir N. Gambin, Tomasz Douglas, Jessica Bacino, Carlos A. Craigen, William J. Sanders, Stephan J. Lehmann, Andrea Latypova, Xénia Khan, Kamal Pacault, Mathilde Sacharow, Stephanie Glaser, Kimberly Bieth, Eric Perrin-Sabourin, Laurence Jacquemont, Marie-Line Cho, Megan T. Roeder, Elizabeth Denommé-Pichon, Anne-Sophie Monaghan, Kristin G. Yuan, Bo Xia, Fan Simon, Sylvain Bonneau, Dominique Parent, Philippe Gilbert-Dussardier, Brigitte Odent, Sylvie Toutain, Annick Pasquier, Laurent Barbouth, Deborah Shaw, Chad A. Patel, Ankita Smith, Janice L. Bi, Weimin Schmitt, Sébastien Deb, Wallid Nizon, Mathilde Mercier, Sandra Vincent, Marie Rooryck, Caroline Malan, Valérie Briceño, Ignacio Gómez, Alberto Nugent, Kimberly M. Gibson, James B. Cogné, Benjamin Lupski, James R. Stessman, Holly A.F. Eichler, Evan E. Retterer, Kyle Yang, Yaping Redon, Richard Katsanis, Nicholas Rosenfeld, Jill A. Kloetzel, Peter-Michael Golzio, Christelle Bézieau, Stéphane Stankiewicz, Paweł Isidor, Bertrand