Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.
Zhang Y et al.
Pediatric Neurology, 2022
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
de Valles-Ibáñez G et al.
Epilepsia Open, 2022
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1
[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].
Wu TH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
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