Associated Papers
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.
Peeples SM et al.
Hgg Advances, 2026
Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells.
Vallee I et al.
The Journal of Biological Chemistry, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Purification and validation of asparaginyl-tRNA synthetase heterodimer with indistinguishable subunits.
Vallee I et al.
Iubmb Life, 2025
Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.
Kalotay E et al.
Frontiers in Neuroscience, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Select a paper to view details