Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
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
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
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Bernkopf M et al.
Human Molecular Genetics, 2014
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Reiff RE et al.
Human Molecular Genetics, 2014
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