De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Patricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina Ahram, Vimla S. Aggarwal, Louise Bier, Erin L. Heinzen, Ana C. Onuchic-Whitford, Nina Mann, Florian Buerger, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Verena Klämbt, Amy Kolb, Youying Mao, Christelle Moufawad El Achkar, Adele Mitrotti, Jeremiah Martino, Bodo B. Beck, Janine Altmüller, Marcus R. Benz, Shoji Yano, Mohamad A. Mikati, Talha Gunduz, Heidi Cope, Vandana Shashi, Howard Trachtman, Monica Bodria, Gianluca Caridi, Isabella Pisani, Enrico Fiaccadori, Asmaa S. AbuMaziad, Julián A. Martínez-Agosto, Ora Yadin, Jonathan E. Zuckerman, Arang Kim, Ulrike John-Kroegel, Amanda V. Tyndall, Jillian S. Parboosingh, A. Micheil Innes, Agnieszka Bierżyńska, Ania Koziell, Mordi Muorah, Moin A. Saleem, Julia Hoefele, Korbinian M. Riedhammer, Ali G. Gharavi, Vaidehi Jobanputra, Emma Pierce‐Hoffman, Eleanor G. Seaby, Anne O’Donnell‐Luria, Heidi L. Rehm, Shrikant Mane, Vivette D. D’Agati, Martin R. Pollak, Gian Marco Ghiggeri, Richard P. Lifton, David B. Goldstein, Erica E. Davis, Friedhelm Hildebrandt, Simone Sanna‐Cherchi