Bertrand Chesneau
13PUBLICATIONS
126CO-AUTHORS
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Publications (13)
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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
|Jan 22, 2026
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui
|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.Camille Engel, Michaela Rendek, Jessica Assoumani
|Mar 13, 2024
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie
|Aug 16, 2023
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.Julie Plaisancié, Jelena Martinovic, Bertrand Chesneau
|Feb 03, 2023
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.Mélissa Santorini, Bertrand Chesneau, Patricia Koskas-Boublil
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Frequent Collaborators
5 joint publications
Julie Plaisancié
3 joint publications
Anne-Sophie Denommé-Pichon
3 joint publications
Jonathan Levy
3 joint publications
Nicolas Chassaing
3 joint publications
Marlène Rio
3 joint publications
Julien Van-Gils
3 joint publications
Godelieve Morel
2 joint publications
Camille Engel
2 joint publications
Marion Aubert-Mucca
2 joint publications
Pierre Blanc
