Francis Ramond

15PUBLICATIONS
293CO-AUTHORS
Genomics and transcriptomicsNeurology and neuromuscular diseasesSensory systemsCell and nuclear divisionNeurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (15)

|Jun 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

|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

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Kamal Khan, Erika Tavares, Katherine Bishara

|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

Pageof 3

Frequent Collaborators

5 joint publications

Alain Verloes

5 joint publications

Anne-Sophie Denommé-Pichon

4 joint publications

Mélanie Fradin

4 joint publications

Gaetan Lesca