Delphine Blain

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.

The qMini assay identifies an overlooked class of splice variants

The qMini assay identifies a new class of splice variants that reduce mature mRNA levels without altering sequence, suggesting a novel pathogenic mechanism.

Zfp503/Nlz2 is Required for RPE Differentiation and Optic Fissure Closure

The paper shows that Zfp503 is essential for RPE differentiation and optic fissure closure, with loss of function leading to uveal coloboma and altered gene expression in developing mouse eyes.