Claudio Plaisant

6PUBLICATIONS
26CO-AUTHORS
Molecular targetsGene expression (incl. microarray and other genome-wide approaches)Anthropological geneticsFree radical chemistryEpigenetics (incl. genome methylation and epigenomics)
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Publications (6)

|Jan 14, 2025
A patient with TPCN2-related hypopigmentation and ocular phenotype.

Cécile Courdier, Vincent Michaud, Modibo Diallo

|Aug 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Modibo Diallo, Cécile Courdier, Elina Mercier

|May 09, 2024
Genotypic spectrum of albinism in Mali.

Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé

|Aug 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Vincent Michaud, Angèle Sequeira, Elina Mercier

|Jan 21, 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.

Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria

|Apr 05, 2020
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.

Vincent Michaud, Mathieu Fiore, Valentine Coste

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Frequent Collaborators

6 joint publications

Benoit Arveiler

5 joint publications

Vincent Michaud

3 joint publications

Eulalie Lasseaux

3 joint publications

Fanny Morice-Picard