Vincent Michaud

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.

The paper investigates the combined effect of TYR and OCA2 variants on albinism risk and finds synergistic effects increasing diagnosis odds.

The paper investigates the role of common regulatory and protein-coding TYR variants in albinism, finding a high-frequency promoter variant modulates penetrance of a missense change and a haplotype associated with increased albinism risk.

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

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

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