Alexandre Janin

15PUBLICATIONS
87CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)MechanobiologyCardiology (incl. cardiovascular diseases)
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Publications (15)

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

|Jun 17, 2026
NuMA1 controls myonuclear motility in striated skeletal muscle through AMPK activity and is impaired in Duchenne muscular dystrophy.

|Jul 23, 2025
Functional Evaluation of Splice Variants Using a Minigene Strategy.

Angélique Nizou, Lana Mahfoud, Alexandre Janin

|Mar 11, 2025
SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrity.

Alexandre Guiraud, Nathalie Couturier, Emilie Christin

|Jan 17, 2025
RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

Alexis Hermida, Flavie Ader, Gilles Millat

|Nov 25, 2024
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Laurie Surles, Alexandre Janin, Corentin Molitor

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Frequent Collaborators

7 joint publications

Gilles Millat

4 joint publications

Philippe Chevalier

3 joint publications

Oriane Marmontel

3 joint publications

Pascale Richard