Marie Abitbol

This study investigates the effects of a missense LMNA variant in DCM patients, showing nuclear integrity and sarcomere remodeling defects in iPSC-derived cardiomyocytes.

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.

The paper identifies variants in the Hairless gene associated with hypotrichia and roaning in lykoi cats by comparing whole genome sequencing data from a lykoi cat to a non-lykoi dataset.