François Lecoquierre
21PUBLICATIONS
332CO-AUTHORS

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Publications (21)
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|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Amandine Santini, Angelo Tognon, Anne-Claire Richard
|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.Rocio Rius, Alexander J M Blakes, Yuyang Chen
|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
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Frequent Collaborators
8 joint publications
Gaël Nicolas
7 joint publications
Laurence Faivre
4 joint publications
Gaetan Lesca
4 joint publications
Benjamin Cogné
4 joint publications
Nicolas Chatron
3 joint publications
Ingo Helbig
3 joint publications
Olivier Quenez
3 joint publications
Matias Wagner
3 joint publications
Guerrot Anne Marie
3 joint publications
Christophe Philippe