Eulalie Lasseaux

GENOTYPIC SPECTRUM OF ALBINISM IN MALI

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

Unsuspected consequences of synonymous and missense variants in can be detected in blood cell RNA samples of patients with albinism

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 co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

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

The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism

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.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

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.

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

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