Associated Papers
Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY.
Kuan J et al.
Frontiers in Pediatrics, 2023
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.
Forrest ME et al.
Cold Spring Harbor Molecular Case Studies, 2022
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L et al.
Journal of Molecular Medicine (berlin, Germany), 2021
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L et al.
Journal of Molecular Medicine (berlin, Germany), 2021
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
Zeiad RKHM et al.
Journal of the Endocrine Society, 2021
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Williams KB et al.
Human Molecular Genetics, 2019
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