Stéphanie Baulac
31PUBLICATIONS
251CO-AUTHORS
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Publications (31)
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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
|Mar 06, 2026
Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 deletion.Marina Maletic, Sara Bizzotto, Théo Ribierre
|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
|Apr 30, 2025
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia.Sara Baldassari, Esther Klingler, Lucia Gomez Teijeiro
|Apr 28, 2025
[From brain mosaicism to epilepsy: toward a novel targeted therapeutic strategy].Théo Ribierre, Stéphanie Baulac
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Frequent Collaborators
8 joint publications
Sara Baldassari
5 joint publications
Aristea S Galanopoulou
5 joint publications
David C Henshall
5 joint publications
Ozlem Akman
5 joint publications
Stéphane Auvin
4 joint publications
Jean-Madeleine De Sainte Agathe
4 joint publications
Ingmar Blümcke
3 joint publications
Katja Kobow
3 joint publications
Eleonora Aronica
3 joint publications
Jeong Ho Lee
