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Benoit Arveiler

19PUBLICATIONS
131CO-AUTHORS
OphthalmologyNeurology and neuromuscular diseasesMolecular targetsGene expression (incl. microarray and other genome-wide approaches)Anthropological genetics
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Journal

Publications (19)

Sort by Publication Date:
|Jan 11, 2026
First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.

Alain Froment, Paul Verdu, Claudio Plaisant

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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

Cécile Courdier, Vincent Michaud, Modibo Diallo

|Sep 30, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

David J Green, Vincent Michaud, Eulalie Lasseaux

|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

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Frequent Collaborators

13 joint publications

Vincent Michaud

6 joint publications

Fanny Morice-Picard

6 joint publications

Claudio Plaisant

4 joint publications

Eulalie Lasseaux

3 joint publications

Sophie Javerzat

3 joint publications

Angèle Tingaud-Sequeira

2 joint publications

Tomas Fitzgerald

2 joint publications

Smail Hadj-Rabia

2 joint publications

Perrine Pennamen

2 joint publications

Ewan Birney

Frequent Collaborators

13 joint publications

Vincent Michaud

6 joint publications

Fanny Morice-Picard

6 joint publications

Claudio Plaisant

4 joint publications

Eulalie Lasseaux

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