Louis Lebreton

6PUBLICATIONS
114CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)PharmacogenomicsNeurology and neuromuscular diseasesGene and molecular therapy
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Jul 16, 2026
Deep intronic ANK1 variants causing pseudo-exon inclusion in hereditary spherocytosis: Whole-genome sequencing and functional assessment.

|Mar 07, 2026
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research.

Victor Marin, Hugo Lannes, Victor Dumont

|Jan 06, 2026
French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Gene Panel Analysis Through Genotyping or Sequencing in Pharmacogenetics.

Nicolas Picard, Estelle Ayme-Dietrich, Sylvie Quaranta

|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

|Nov 25, 2024
French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten.

Louis Lebreton, Jean-Christophe Boyer, Claire Lafay-Chebassier

|Jan 13, 2023
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.

Lebreton Louis, Gaschignard Margaux, Guibet Claire

Pageof 1

Frequent Collaborators

3 joint publications

Victor Marin

2 joint publications

Nicolas Picard

2 joint publications

Abd El Kader Ait Tayeb

1 joint publications

Julian Boutin