De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Francesca Mattioli, Gaëlle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, María-Victoria Hinckelmann, Frédéric Tran Mau‐Them, Chantal Sellier, Alica M. Goldman, Aida Telegrafi, Alicia Boughton, Candace Gamble, Sébastien Moutton, Angélique Quartier, Nolwenn Jean, Paul Van Ness, Sarah Grotto, Sophie Nambot, Ganka Douglas, Yue Cindy, Jamel Chelly, Zohra Shad, Elisabeth Kaplan, Richard Dineen, Christelle Golzio, Nicolas Charlet‐Berguerand, Jean‐Louis Mandel, Amélie Piton