Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Pauline Marzin, Anne Guimier, Evyatar Mor, Naama Zvi, Naama Elefant, Maha S. Zaki, Joseph G. Gleeson, Kai Muru, Sander Pajusalu, Monica H. Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Muhannad Daana, Orly Elpeleg, Jeanne Amiel, Stanislas Lyonnet, Christopher T. Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor‐Shaked