Francis Ramond

15PUBLICATIONS
293CO-AUTHORS
Genomics and transcriptomicsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Sensory systemsCell and nuclear division
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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

|Mar 27, 2026
STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.

Cecilia Marelli, Quentin Charret, Cyril Goizet

|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

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Frequent Collaborators

5 joint publications

Alain Verloes

5 joint publications

Anne-Sophie Denommé-Pichon

4 joint publications

Mélanie Fradin

4 joint publications

Gaetan Lesca