Associated Papers
Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.
Bejma TA et al.
American Journal of Medical Genetics. Part A, 2024
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
Domínguez-Ruiz M et al.
Genes, 2024
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Lin SJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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