Ange-Line Buel
52PUBLICATIONS
406CO-AUTHORS
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Publications (52)
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|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Elsa Leitão, Amandine Santini, Benjamin Cogne
|Feb 02, 2026
Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.Neftalí Vazquez, Chanjae Lee, Irene Valenzuela
|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.Céline Jost, Tiffany Busa, Daniel Wegner
|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.Marlène Malbos, Thierry Gautier, Amelle Shillington
|Sep 19, 2025
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.Loraine Mania-Pâris, Antonio Vitobello, Hana Safraou
|Sep 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.Jeanne Jury, Thomas Besnard, Wallid Deb
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Frequent Collaborators
21 joint publications
Laurence Faivre
18 joint publications
Antonio Vitobello
17 joint publications
Anne-Sophie Denommé-Pichon
16 joint publications
Christophe Philippe
16 joint publications
Cristel Thauvin-Robinet
15 joint publications
Frédéric Tran-Mau-Them
10 joint publications
Sophie Nambot
8 joint publications
Sébastien Moutton
8 joint publications
Caroline Racine
7 joint publications
Arthur Sorlin
