Associated Papers
An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities.
Yang Y et al.
Nucleic Acids Research, 2023
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.
Salzano E et al.
Frontiers in Neurology, 2023
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N et al.
European Journal of Human Genetics : Ejhg, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S5-final_16052022.xlsx › Table_S5B
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M et al.
Journal of Medical Genetics, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Novel mutation in the MED23 gene for intellectual disability: A case report and literature review.
Hashemi-Gorji F et al.
Clinical Case Reports, 2019
Crystal structure of human Mediator subunit MED23.
Monté D et al.
Nature Communications, 2018
MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
Lionel AC et al.
American Journal of Medical Genetics. Part A, 2016
MED23-associated intellectual disability in a non-consanguineous family.
Trehan A et al.
American Journal of Medical Genetics. Part A, 2015
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
Hashimoto S et al.
Science (new York, N.y.), 2011
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