Associated Papers
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Efthymiou S et al.
American Journal of Human Genetics, 2025
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
Blaesius K et al.
American Journal of Medical Genetics. Part A, 2018
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R et al.
Molecular Psychiatry, 2018
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.
Jazayeri R et al.
Archives of Iranian Medicine, 2015
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
Davarniya B et al.
Plos One, 2015
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