Associated Papers
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.
Bibi A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report.
Zha J et al.
Frontiers in Pediatrics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
Khan A et al.
Genes, 2020
32878022 (PubMed )
Supplement: genes-11-01021-s001.pdf
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Further delineation of METTL23-associated intellectual disability.
Almannai M et al.
American Journal of Medical Genetics. Part A, 2020
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Reiff RE et al.
Human Molecular Genetics, 2014
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