De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons
Tomoki T. Nomakuchi, Alyssa L. Rippert, Sabrina A. Santos De Leon, Elizabeth M. Gonzalez, Dong Li, Rajesh Angireddy, Lívia Sertori Finoti, Flavio Faletra, Luciana Musante, Tuula Rinne, David J. Amor, Lydia von Wintzingerode, Rami Abou Jamra, Samantha R. Stover, Jillian G. Buchan, , Elizabeth J. K. Bhoj
medRxiv · Dec 27, 2025 · PreprintGenetic & Genomic Medicine