Article

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2025

van Oirsouw Amber S E, Nedbalova Pavla, Hancarova Miroslava, Prchal Jan, Prchalova Darina, Vlckova Marketa, Bendova Sarka, Monaghan Kristin G, Dyer Lisa M, Chen Yanmin, Carere Deanna Alexis, Te Bogt Emma A M, Fisher Heather, Scheuerle Angela E, Riley Stephanie, Jain Mahim, Mu Weiyi, Bodurtha Joann N, van Eerde Albertien M, Stokman Marijn F, Longo Nicola, Balasubramanian Meena, Spiller Michael, Costain Gregory, von der Lippe Charlotte, Tveten Kristian, Jortveit Marianne, Holla Øystein L, Isidor Bertrand, Cogné Benjamin, Glinton Kevin E, Vuocolo Blake, Sierra Roberta Ann, Angle Brad, Bontempo Kelly, Koop Klaas, Rabin Rachel, Pappas John, Staffenberg David A, Joset Pascal, Miny Peter, Filges Isabel, Alali Abdulrazak, Vitalone Kara, Rosenfeld Jill A, Bi Weimin, Bradbrook Samuel, Perrier Renee, Ramanathan Subhadra, Gold June-Anne, Palomares Bralo María, Ángeles Gómez-Cano María, Olney Ann Haskins, Nielsen Shelly, Ziegler Alban, Bonneau Dominique, Prouteau Clément, Bruel Ange-Line, Caille-Benigni Charlotte, Lambert Laëtitia, Yu Andrea C, Robin Nathaniel H, Goodloe Dana, Fischer Jan, Porrmann Joseph, Hennig Yvonne D, Abou Jamra Rami, Herman Isabella, Johnson Ivy R, Hérissant Lucas, Jouret Guillaume, van Gassen Koen L I, van Binsbergen Ellen, van der Zwaag Bert, Kamermans Alwin, Oegema Renske, Sedlacek Zdenek, Fenckova Michaela, van Jaarsveld Richard H