Associated Papers
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
Verdura E et al.
Journal of Medical Genetics, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen N et al.
Human Mutation, 2022
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Ravel JM et al.
Human Mutation, 2021
Treatment of ARS deficiencies with specific amino acids.
Kok G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Bruel AL et al.
European Journal of Human Genetics : Ejhg, 2019
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