Caroline Dufaure de Citres

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.

This paper identifies a missense variant in the PAOX gene as the cause of juvenile-onset polyneuropathy in American Staffordshire Terriers, highlighting its potential as a model for human Charcot-Marie-Tooth disease.

This paper develops and validates variant classification guidelines for animals, improving the accuracy of pathogenicity assessment in cats and eight other species.