Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Impact of pathogenic mutations on the refolding ability and stability of human mitochondrial Phenylalanyl-tRNA synthetase.
Roy D et al.
Archives of Biochemistry and Biophysics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.
Zhang X et al.
Bmc Neurology, 2024
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Chen W et al.
Molecular Genetics and Metabolism, 2023
Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.
Panzeri E et al.
Frontiers in Genetics, 2023
[Genetic analysis of a child with combined oxidative phosphorylation deficiency 14 due to variant of FARS2 gene].
Ma J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
Li L et al.
European Journal of Medical Research, 2022
Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.
Chen X et al.
Cell & Bioscience, 2022
FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism.
Fan W et al.
Nucleic Acids Research, 2021
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G et al.
European Journal of Human Genetics : Ejhg, 2021
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Kim SY et al.
Clinical Genetics, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.
Sahai SK et al.
Annals of Clinical and Translational Neurology, 2018
New insights into the phenotype of FARS2 deficiency.
Vantroys E et al.
Molecular Genetics and Metabolism, 2017
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.
Kartvelishvili E et al.
Protein Science : a Publication of the Protein Society, 2017
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Cho JS et al.
Epilepsy Research, 2017