Associated Papers
Functional Interpretation of a Novel Homozygous METTL5 Variant Associated with ADHD and Neurodevelopmental Abnormalities: A Case Report and Literature Review.
Hashem S et al.
Genes, 2025
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family.
Zhou X et al.
Journal of Human Genetics, 2025
Cortical organoids reveal human-specific roles of METTL5 in neurodevelopment via regulation of CHCHD2.
Turkalj EM et al.
Biorxiv : the Preprint Server for Biology, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review.
Shakarami F et al.
Journal of Genetics, 2023
Division of labor in epitranscriptomics: What have we learnt from the structures of eukaryotic and viral multimeric RNA methyltransferases?
Graille M
Wiley Interdisciplinary Reviews. Rna, 2022
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
Torun D et al.
The Turkish Journal of Pediatrics, 2022
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
Richard EM et al.
American Journal of Human Genetics, 2019
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 2017
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