Associated Papers
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency.
Averdunk L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature review.
Fernandes da Rocha D et al.
Clinical Dysmorphology, 2025
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Bartolomaeus T et al.
European Journal of Human Genetics : Ejhg, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.
Kalotay E et al.
Frontiers in Neuroscience, 2023
37274208 (PubMed )
Supplement: Table_1.pdf
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
Select a paper to view details