Associated Papers
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig H et al.
Neuropathology and Applied Neurobiology, 2022
Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.
Wu S et al.
Bmc Pediatrics, 2022
TRMT5 mutations are associated with features of complex hereditary spastic paraparesis.
Tarnopolsky MA et al.
Neurology, 2017
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM13_ESM.xlsx › Sup._T10_-_LOF_GL_Exomes
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Powell CA et al.
American Journal of Human Genetics, 2015
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