1. Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Delague, Valérie, Urtizberea, J Andoni. . A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. In Journal of neuromuscular diseases, 9, 193-210. doi:10.3233/JND-210652. https://pubmed.ncbi.nlm.nih.gov/34602496/
2. Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G, Gleeson, Joseph G, Varshney, Gaurav K. 2021. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. In Genetics in medicine : official journal of the American College of Medical Genetics, 23, 1933-1943. doi:10.1038/s41436-021-01239-1. https://pubmed.ncbi.nlm.nih.gov/34172899/
3. Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Goffrini, Paola, Brunetti-Pierri, Nicola. 2021. Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. In Human mutation, 42, 745-761. doi:10.1002/humu.24210. https://pubmed.ncbi.nlm.nih.gov/33942428/
4. Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Santorelli, Filippo, Giglio, Sabrina. 2021. Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report. In BMC medical genomics, 14, 25. doi:10.1186/s12920-020-00863-1. https://pubmed.ncbi.nlm.nih.gov/33478492/
5. Dias, José, Octobre, Guillaume, Kobbi, Lydia, Flisiak, Sebastian, Mirande, Marc. 2012. Activation of human mitochondrial lysyl-tRNA synthetase upon maturation of its premitochondrial precursor. In Biochemistry, 51, 909-16. doi:10.1021/bi201337b. https://pubmed.ncbi.nlm.nih.gov/22235746/