Dorien Schepers

Dorien Schepers

University of Antwerp - Antwerp / Belgium
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1389814
Universiteit Antwerpen
person_outline Dorien Schepers's MOST POPULAR ARTICLES
1-) Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm Nature genetics 44 (8), 922-927, 2012
2-) Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome Annals of cardiothoracic surgery 6 (6), 582, 2017
3-) Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm Nature genetics 44 (11), 1249-1254, 2012
4-) Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy Annals of neurology 75 (3), 382-394, 2014
5-) Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia The American Journal of Human Genetics 99 (1), 174-187, 2016