Sophie Javerzat

This paper introduces a functional rescue assay to classify genetic variants in albinism genes, demonstrating its effectiveness with TYR variants.

The paper investigates how variants in OCA2 exon 10 affect splicing and pigmentation, showing that some variants increase exon skipping and contribute to hypopigmentation.

This study analyzes the genotypic spectrum of albinism in 23 Malian patients, identifying four novel variants and highlighting differences from other African populations.

The paper shows that blood cell RNA analysis can detect the effects of OCA2 variants on exon skipping and mRNA levels, helping to reclassify variants of unknown significance as pathogenic.

This paper investigates the retinal phenotype of Dct-/- mice to understand retinogenesis misregulation in albinism patients.

The paper identifies DCT gene variants in two patients with oculocutaneous albinism, demonstrating their association with hypopigmentation and proposing a new subtype, OCA8.