Julien Buratti
16PUBLICATIONS
277CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (16)
Sort by Publication Date:
|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
|May 27, 2024
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).Eléonore Viora-Dupont, Françoise Robert, Aline Chassagne
|Feb 24, 2023
Loss of function of ADNP by an intragenic inversion.Mathieu Georget, Elodie Lejeune, Julien Buratti
|Feb 06, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau
Pageof 3
Frequent Collaborators
6 joint publications
Christel Depienne
5 joint publications
Jozef Gecz
5 joint publications
Anne-Sophie Denommé-Pichon
5 joint publications
Elsa Leitão
5 joint publications
Gaetan Lesca
4 joint publications
Mark A Corbett
4 joint publications
Benjamin Cogné
4 joint publications
Amélie Piton
4 joint publications
Frédéric Tran Mau-Them
4 joint publications
Florian Kraft
