Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Diana Le Duc (1) , Cecilia Giulivi (2) , Susan Hiatt , Eleonora Napoli (2) , Alexios Panoutsopoulos (2) , Angelo Harlan de Crescenzo (2) , Urania Kotzaeridou , Steffen Syrbe , Evdokia Anagnostou , Meron Azage , Renee Bend , Amber Begtrup (3) , Natasha Brown , Benjamin Büttner , Megan T Cho (3) , Gregory Cooper , Jan Doering , Christèle Dubourg (4) , David Everman , Michael Hildebrand , Francis Jeshira Reynoso Santos , Barbara Kellam , Jennifer Keller-Ramey , Johannes Lemke , Shuxi Liu , Dmitriy Niyazov , Katelyn Payne , Richard E. Person , Chloé Quélin (5) , Rhonda Schnur , Brooke Smith , Jonathan Strober , Susan Walker , Mathew Wallis , Laurence Walsh , Sandra Yang , Ryan Yuen , Andreas Ziegler , Heinrich Sticht , Michael W Pride (2) , Lori Orosco (2) , Verónica Martínez-Cerdeño (2) , Jill Silverman (2) , Jacqueline Crawley (2) , Stephen W. Scherer , Konstantinos Zarbalis (2) , Rami Jamra (1)

1 Universität Leipzig [Leipzig]
2 UC Davis - University of California [Davis]
3 GeneDx [Gaithersburg, MD, USA]
4 IGDR - Institut de Génétique et Développement de Rennes
5 Service de génétique clinique [Rennes]

Keywords: brain size; WDFY3; neurodevelopmental delay; intellectual disability

Domains: Life Sciences [q-bio]

Diana Le Duc, Cecilia Giulivi, Susan Hiatt, Eleonora Napoli, Alexios Panoutsopoulos, et al.. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain - A Journal of Neurology , 2019, 142 (9), pp.2617-2630. ⟨10.1093/brain/awz198⟩. ⟨hal-02309674⟩