Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations.
Zhu J et al.
Frontiers in Genetics, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Pauly MG et al.
Movement Disorders Clinical Practice, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD et al.
Neurology. Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
[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
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Muthiah A et al.
Frontiers in Cellular Neuroscience, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases.
Moulinier L et al.
Human Mutation, 2017
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.
Shimojima K et al.
Human Genome Variation, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L et al.
Brain : a Journal of Neurology, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Németh AH et al.
Brain : a Journal of Neurology, 2013
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper GC et al.
Nature Genetics, 2007