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

Diana Le Duc; Cecilia Giulivi; Susan Hiatt; Eleonora Napoli; Alexios Panoutsopoulos; Angelo Harlan de Crescenzo; Urania Kotzaeridou; Steffen Syrbe; Evdokia Anagnostou; Meron Azage; Renee Bend; Amber Begtrup; Natasha Brown; Benjamin Büttner; Megan Cho; Gregory Cooper; Jan Doering; Christèle Dubourg; 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; Rhonda Schnur; Brooke Smith; Jonathan Strober; Susan Walker; Mathew Wallis; Laurence Walsh; Sandra Yang; Ryan Yuen; Andreas Ziegler; Heinrich Sticht; Michael Pride; Lori Orosco; Verónica Martínez-Cerdeño; Jill Silverman; Jacqueline Crawley; Stephen Scherer; Konstantinos Zarbalis; Rami Jamra

doi:10.1093/brain/awz198

Journal articles

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, *}

* Corresponding author

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 WDFY3 neurodevelopmental delay brain size

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Journal articles

Domain :

Life Sciences [q-bio]

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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, April 19, 2021 - 10:20:21 AM

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

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

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