Claudio Plaisant

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 6

Top Topics

Intellectual Disability

Newly Diagnosed

Gene Expression

Top Venues

International journal of molecular sciences

Pigment cell & melanoma research

This page only lists publications with an associated author ORCID identifier.

Publications

Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé, Claudio Plaisant, Elina Mercier, Angèle Tingaud-Sequeira, Sophie Javerzat, Abdelaziz Hadid, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler
Genotypic spectrum of albinism in Mali. Pigment cell & melanoma research (2024)
Vincent Michaud, Angèle Tingaud-Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux-Coeslier, Fanny Morice-Picard, Juliette Coursimault, Benoit Arveiler, Sophie Javerzat
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. Pigment cell & melanoma research (2023)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, Rachel Stapleton, Stéphane Claverol, Claudio Plaisant, Marc Bonneu, Estelle Lopez, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Human genetics 140 (6) (2021)
Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. Platelets 32 (3) (2020)