Brigitte Gilbert-Dussardier
9PUBLICATIONS
57CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (9)
Sort by Publication Date:
|Mar 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.Ange-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan
|Nov 17, 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.Guillaume Jedraszak, Florence Jobic, Aline Receveur
|Oct 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.Thomas Husson, François Lecoquierre, Gaël Nicolas
|Jul 08, 2020
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.Tanguy Niclass, Gwenael Le Guyader, Claire Beneteau
|Jul 11, 2019
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.Gara Samara Brajadenta, Frédéric Bilan, Brigitte Gilbert-Dussardier
|Jul 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.Caroline Michot, Carine Le Goff, Edward Blair
Pageof 2
Frequent Collaborators
2 joint publications
Marine Legendre
2 joint publications
Laurence Faivre
2 joint publications
Marlène Rio
2 joint publications
Xavier Le Guillou Horn
1 joint publications
Claire Beneteau
1 joint publications
Frédéric Brioude
1 joint publications
Sébastien Mur
1 joint publications
Miranda Splitt
1 joint publications
Christel Thauvin-Robinet
1 joint publications
Alain Verloes
