Author
Université de Bordeaux
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
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.
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.
Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová…·Benoı̂t Arveiler
The paper identifies DCT gene variants in two patients with oculocutaneous albinism, demonstrating their association with hypopigmentation and proposing a new subtype, OCA8.