Associated Papers
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Ratnaike TE et al.
European Journal of Human Genetics : Ejhg, 2025
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Rius R et al.
Genes, 2021
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Kiraly-Borri C et al.
Cold Spring Harbor Molecular Case Studies, 2019
The G3-U70-independent tRNA recognition by human mitochondrial alanyl-tRNA synthetase.
Zeng QY et al.
Nucleic Acids Research, 2019
Clinical genome sequencing in an unbiased pediatric cohort.
Thiffault I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Sommerville EW et al.
Human Molecular Genetics, 2019
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0
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