Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal(Hebrew University of Jerusalem), Hagar Mor‐Shaked(Hebrew University of Jerusalem), Sander Pajusalu(MACOM (United States)), Hane Lee(Orion Corporation (United Kingdom)), Joseph G. Gleeson(Howard Hughes Medical Institute), Maha S. Zaki(National Research Centre), Katrin Õunap(Tartu University Hospital), Giovanni Zifarelli(Centogene (Germany)), Stanislas Lyonnet(Hôpital Necker-Enfants Malades), Jeanne Amiel(Hôpital Necker-Enfants Malades), Orly Elpeleg(Hadassah Medical Center), Ophir Geminder(Hebrew University of Jerusalem), Naama Elefant(Columbia University Irving Medical Center), Kai Muru(Tartu University Hospital), Tamar Harel(Hebrew University of Jerusalem), Christopher T. Gordon(Inserm), Marwa Abd Elmaksoud(Alexandria University), Kaisa Teele Oja(MACOM (United States)), Anne Guimier(Hôpital Necker-Enfants Malades), Divya Pachat(Malabar Institute of Medical Sciences), Pauline Marzin(Hôpital Necker-Enfants Malades), Won Chan Jeong, Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Peter Bauer(Centogene (Germany)), Naama Zvi(Hadassah Medical Center), Thuy-Linh Le(Inserm), Muhannad Daana, Monica H. Wojcik(Broad Institute), Evyatar Mor(Ben-Gurion University of the Negev), Maayan Salton(Hebrew University of Jerusalem)
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