Claudio Plaisant

Molecular characterization of a series of 990 index patients with albinism

Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud et al. · Pigment Cell & Melanoma Research · 2018 · 153 citations

Life Sciences, Genetics, Molecular Genetics +17

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Perrine Pennamen, Linh Le, Angèle Tingaud‐Sequeira et al. · Genetics in Medicine · 2020 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Vincent Michaud, Eulalie Lasseaux, David Green et al. · Nature Communications · 2022 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová et al. · Genetics in Medicine · 2020 · 58 citations · Full text

Medicine, Ophthalmology, Human Genetics +5

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene

Solène Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet et al. · British Journal of Ophthalmology · 2018 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12