Andrea Louise Vincent

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES

The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.

WFS1E864K in humans and mice causes Wolfram-like syndrome optic atrophy via early axonal mitochondrial dysfunction

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.