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Nature Communications|July 8, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinismVincent Michaud, Eulalie Lasseaux, David J Green, et al.
Molecular Genetics and Metabolism Reports|June 30, 2026
OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenicModibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, et al.
Gene|November 7, 2024
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1Modibo Diallo, Alicia Defay-Stinat, Victor Gindensperger, et al.
European Journal of Medical Genetics|May 23, 2020
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3Jean-Madeleine de Sainte Agathe, Julien Van-Gils, Eulalie Lasseaux, et al.
Pigment Cell & Melanoma Research|October 15, 2013
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 geneFanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, et al.
American Journal of Medical Genetics. Part A|March 24, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1Paul Bonnemason-Carrere, Fanny Morice-Picard, Perrine Pennamen, et al.
Pigment Cell & Melanoma Research|August 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinismVincent Michaud, Angèle Sequeira, Elina Mercier, et al.
Pigment Cell & Melanoma Research|July 21, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndromePerrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, et al.
Acta Neuropathologica Communications|April 16, 2020
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelinationAurélien Trimouille, Florent Marguet, Fanny Sauvestre, et al.
Pigment Cell & Melanoma Research|June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPSVincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
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