Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampathkumar Rangasamy, Matt Huentelman, Lisa Emrick, Ikuko Sato‐Shirai, Satoko Kumada, Nicole I. Wolf, Peter Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Lévy, Séverine Drunat, Marie Vincent, Agnès Guët, Emanuele Agolini, Antonio Novelli, M. Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vézina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan