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 BauerGiovanni Zifarelli, Henry Houlden, Muhannad Daana, Orly Elpeleg, Jeanne Amiel, Stanislas Lyonnet, Christopher T. Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked*

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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Biochemistry, Genetics and Molecular Biology