Cappuccio, G., Ceccatelli Berti, C., Baruffini, E., Sullivan, J., Shashi, V., Jewett, T., Stamper, T., Maitz, S., Canonico, F., Revah‐Politi, A., Kupchik, G. S., Anyane‐Yeboa, K., Aggarwal, V., Benneche, A., Bratland, E., Berland, S., D’Arco, F., Alves, C. A., Vanderver, A., … Brunetti‐Pierri, N. (2021). Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Human Mutation, 42(6), 745–761. Portico. https://doi.org/10.1002/humu.24210