Claudio Plaisant
Bordeaux, France
Last Updated: 09/26/2026
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Found 29 publications
OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic.
Journal: Molecular genetics and metabolism reports
Published: April 23, 2026
First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.
Journal: Pigment cell & melanoma research
Published: August 18, 2025
Genetic analysis of participants with foveal hypoplasia.
Journal: Ophthalmic genetics
Published: June 23, 2025
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Journal: European journal of human genetics : EJHG
Published: October 12, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Journal: International journal of molecular sciences
Published: July 02, 2024
Genotypic spectrum of albinism in Mali.
Journal: Pigment cell & melanoma research
Published: March 13, 2024
Proteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred proteins.
Journal: Journal of dermatological science
Published: August 24, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Journal: Pigment cell & melanoma research
Published: July 07, 2023
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Journal: Nature communications
Published: December 13, 2022
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
Journal: Journal of medical genetics
Published: December 01, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Journal: Nature communications
Published: October 18, 2021
Last Updated: 09/26/2026