Author
Université de BordeauxORCID 0009-0003-8663-2710Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Elina Mercier, Vincent Michaud, Angèle Tingaud‐Sequeira…·Sophie Javerzat
This paper introduces a functional rescue assay to classify genetic variants in albinism genes, demonstrating its effectiveness with TYR variants.
Elina Mercier, David‐Alexandre Trégouët, Sébastien Campagne…·Sophie Javerzat
The paper investigates how variants in OCA2 exon 10 affect splicing and pigmentation, showing that some variants increase exon skipping and contribute to hypopigmentation.
Modibo Diallo, O Sylla, Mohamed Kole Sidibé…·Benoı̂t Arveiler
This study analyzes the genotypic spectrum of albinism in 23 Malian patients, identifying four novel variants and highlighting differences from other African populations.
Vincent Michaud, Angèle Tingaud‐Sequeira, Elina Mercier…·Sophie Javerzat
The paper shows that blood cell RNA analysis can detect the effects of OCA2 variants on exon skipping and mRNA levels, helping to reclassify variants of unknown significance as pathogenic.
Angèle Tingaud‐Sequeira, Elina Mercier, Vincent Michaud…·Sophie Javerzat
This paper investigates the retinal phenotype of Dct-/- mice to understand retinogenesis misregulation in albinism patients.