Vincent Michaud

27PUBLICATIONS
205CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Organic chemical synthesisGenetic immunologyNeurology and neuromuscular diseasesMolecular targets
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (27)

|Jun 06, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

|Sep 25, 2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne

|Jun 23, 2025
Genetic analysis of participants with foveal hypoplasia.

Raphael Lejoyeux, Vincent Michaud, Hugo Le Boité

|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

|Jan 14, 2025
A patient with TPCN2-related hypopigmentation and ocular phenotype.

Cécile Courdier, Vincent Michaud, Modibo Diallo

|Nov 29, 2024
The phenotypic spectrum of CEP250 gene variants.

Cécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald

Pageof 5

Frequent Collaborators

13 joint publications

Benoît Arveiler

6 joint publications

Fanny Morice-Picard

5 joint publications

Claudio Plaisant

4 joint publications

Eulalie Lasseaux