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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
A human case of GIMAP6 deficiency: a novel primary immune deficiency.
Shadur B et al.
European Journal of Human Genetics : Ejhg, 2021
33328581 (PubMed )
Supplement: 41431_2020_773_MOESM1_ESM.docx
Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z et al.
Italian Journal of Pediatrics, 2020
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T et al.
Neurogenetics, 2018
Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.
Jiménez-Romero S et al.
Molecular Syndromology, 2018
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R et al.
European Journal of Medical Genetics, 2017
Redefining the MED13L syndrome.
Adegbola A et al.
European Journal of Human Genetics : Ejhg, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Utami KH et al.
Human Mutation, 2014
Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population.
Lei L et al.
Journal of Thoracic Disease, 2014
Mediator and human disease.
Spaeth JM et al.
Seminars in Cell & Developmental Biology, 2011
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
Muncke N et al.
Circulation, 2003
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