Associated Papers
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST3
IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
Dong Q et al.
Orphanet Journal of Rare Diseases, 2024
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
Watanabe M et al.
Genes, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient.
Zhou F et al.
Global Medical Genetics, 2024
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
Upadia J et al.
Clinical Case Reports, 2022
IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.
Gong Y et al.
Frontiers in Pediatrics, 2022
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G et al.
Haematologica, 2021
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS et al.
Clinical Genetics, 2020
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona B et al.
Bmc Medical Genetics, 2018
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.
Takezawa Y et al.
Brain & Development, 2018
A case report of de novo missense FOXP1 mutation in a non-Caucasian patient with global developmental delay and severe speech impairment.
Song H et al.
Clinical Case Reports, 2015
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