Taking too long? Close loading screen.
MED13L

Publications

Muncke N et al. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation. 2003;108(23):2843-2850.  PMID: 14638541.

Asadollahi R et al. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013;21(10):1100-1104.  PMID: 23403903.

Adegbola A et al. Redefining the MED13L syndrome. Eur J Hum Genet 2015;23(10):1308-1317.  PMID: 25758992.

Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519(7542):223-8.  PMID: 25533962.

Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433-438.  PMID: 28135719.

Asadollahi R et al. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Eur J Med Genet. 2017;60(9):451-464.  PMID: 28645799.

Smol T et al. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics. 2018;19(2):93-103.  PMID: 29511999.