Amandine Santini
4PUBLICATIONS
181CO-AUTHORS
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Publications (4)
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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
|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
|Sep 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Elsa Leitão, Amandine Santini, Benjamin Cogne
|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
4 joint publications
Gael Nicolas
4 joint publications
Nicolas Chatron
3 joint publications
Caroline Nava
3 joint publications
Benjamin Cogne
3 joint publications
Elsa Leitão
3 joint publications
Gaetan Lesca
3 joint publications
Jean-Madeleine de Sainte Agathe
3 joint publications
Julien Buratti
3 joint publications
Stéphanie Baulac
3 joint publications
Laurence Faivre
