Author
Centre Hospitalier Universitaire de BordeauxORCID 0000-0002-1293-6717Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
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.
David J. Green, Vincent Michaud, Eulalie Lasseaux…·Panagiotis I. Sergouniotis
The paper investigates the combined effect of TYR and OCA2 variants on albinism risk and finds synergistic effects increasing diagnosis odds.
Vincent Michaud, Eulalie Lasseaux, David J. Green…·Panagiotis I. Sergouniotis
The paper investigates the role of common regulatory and protein-coding TYR variants in albinism, finding a high-frequency promoter variant modulates penetrance of a missense change and a haplotype associated with increased albinism risk.
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.