Author
Université de BordeauxORCID 0000-0002-2987-2932Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
9 papers
Recent·Most cited
Elina Mercier, Vincent Michaud, Angèle Tingaud‐Sequeira, Benoı̂t Arveiler, Sophie Javerzat
This paper introduces a functional rescue assay to classify genetic variants in albinism genes, demonstrating its effectiveness with TYR variants.
medRxiv · Nov 26, 2025 · PreprintGenetic & Genomic Medicine
Elina Mercier, David‐Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J. Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel John Rigden, Catherine E. Estay-Ahumada, David Hicks, Panagiotis I. Sergouniotis, Benoı̂t Arveiler, 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.
PLoS Genetics · Sep 25, 2025Peer-reviewedGenetics
Caroline Nava, Benjamin Cogné, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, , Radu Harbuz
The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.
Nature Genetics · May 16, 2025Peer-reviewedGenetic & Genomic Medicine
Modibo Diallo, O Sylla, Mohamed Kole Sidibé, Claudio Plaisant, Elina Mercier, Angèle Tingaud‐Sequeira, Sophie Javerzat, Abdelaziz Hadid, Eulalie Lasseaux, Vincent Michaud, 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.
Pigment Cell & Melanoma Research · May 9, 2024Peer-reviewedGenetic & Genomic Medicine
Vincent Michaud, Angèle Tingaud‐Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj-Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux‐Coëslier, Fanny Morice‐Picard, Juliette Coursimault, Benoı̂t Arveiler, 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.
Pigment Cell & Melanoma Research · Aug 31, 2023Peer-reviewedGenetic & Genomic Medicine
David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Tomas W. Fitzgerald, Ewan Birney, Graeme Charles M. Black, Benoı̂t Arveiler, Panagiotis I. Sergouniotis
The paper investigates the combined effect of TYR and OCA2 variants on albinism risk and finds synergistic effects increasing diagnosis odds.
medRxiv · Jan 19, 2023 · PreprintGenetic & Genomic Medicine
Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, Tomas W. Fitzgerald, Ewan Birney, Benoı̂t Arveiler, Graeme Charles M. Black, 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.
Nature Communications · Jul 8, 2022Peer-reviewedGenetic & Genomic Medicine
Angèle Tingaud‐Sequeira, Elina Mercier, Vincent Michaud, Benoı̂t Pinson, Iveta Gažová, Étienne Gontier, Fanny Decoeur, Lisa McKie, Ian J. Jackson, Benoı̂t Arveiler, Sophie Javerzat
This paper investigates the retinal phenotype of Dct-/- mice to understand retinogenesis misregulation in albinism patients.
Genes · Jun 27, 2022Peer-reviewedGenetics
Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian J. Jackson, 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.
Genetics in Medicine · Oct 25, 2020Peer-reviewedGenetics