Elsa Leitão
16PUBLICATIONS
352CO-AUTHORS
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Publications (16)
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|Apr 08, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji
|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 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Ilaria Parenti, Alina Hesters, Marta Gil-Salvador
|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 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji
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Frequent Collaborators
12 joint publications
Christel Depienne
7 joint publications
Caroline Nava
5 joint publications
Julien Buratti
5 joint publications
Nicola Whiffin
5 joint publications
Anne O'Donnell-Luria
5 joint publications
Rocio Rius
4 joint publications
Florian Kraft
4 joint publications
Yuyang Chen
4 joint publications
Cas Simons
4 joint publications
Rodrigo Mendez
