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 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 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 Pride 2 Lori Orosco 2 Verónica Martínez-Cerdeño 2 Jill Silverman 2 Jacqueline Crawley 2 Stephen 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 : intellectual disability neurodevelopmental delay brain size WDFY3
Document type :
Journal articles
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https://hal-univ-rennes1.archives-ouvertes.fr/hal-02309674
Contributor : Laurent Jonchère <>
Submitted on : Wednesday, October 9, 2019 - 2:41:06 PM
Last modification on : Monday, January 27, 2020 - 4:00:32 PM

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UNIV-RENNES1 | IGDR | CNRS | BIOSIT | UR1-UFR-SVE | UNIV-RENNES

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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 , Oxford University Press (OUP), 2019, 142 (9), pp.2617-2630. ⟨10.1093/brain/awz198⟩. ⟨hal-02309674⟩

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