Sophie Javerzat

5PUBLICATIONS
25CO-AUTHORS
Organic chemical synthesisGene expression (incl. microarray and other genome-wide approaches)Anthropological geneticsFree radical chemistryOptical technology
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Publications (5)

|Sep 25, 2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne

|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

|Jul 27, 2022
The Dct-/- Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

Angèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud

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Frequent Collaborators

4 joint publications

Vincent Michaud

3 joint publications

Claudio Plaisant

3 joint publications

Benoît Arveiler

2 joint publications

Elina Mercier