Séverine Drunat
5PUBLICATIONS
149CO-AUTHORS
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Publications (5)
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|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.Caroline Nava, Benjamin Cogne, Amandine Santini
|Apr 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder.Eric N Anderson, Stephan Drukewitz, Sukhleen Kour
|Mar 28, 2025
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the <i>RTTN</i> Gene.Clarisse Gins, Fabien Guimiot, Séverine Drunat
|Feb 11, 2025
A biallelic variant in <i>GORASP1</i> causes a novel Golgipathy with glycosylation and mitotic defects.Sophie Lebon, Arnaud Bruneel, Séverine Drunat
|Apr 11, 2024
Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.Yoann Vial, Jeannette Nardelli, Adeline A Bonnard
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Frequent Collaborators
3 joint publications
Yoann Vial
3 joint publications
Pierre Gressens
3 joint publications
Sandrine Passemard
2 joint publications
Konrad Platzer
2 joint publications
Alain Verloes
2 joint publications
Rami Abou Jamra
2 joint publications
Nicolas Chatron
2 joint publications
Henri Margot
2 joint publications
Frederic Tran Mau-Them
2 joint publications
Vincent El Ghouzzi
