Dorien Schepers

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Mark E. Lindsay, Dorien Schepers, Nikhita Bolar et al. · Nature Genetics · 2012 · 464 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Dominant‐negative effects of <i>KCNQ2</i> mutations are associated with epileptic encephalopathy

Gökce Orhan, Merle Bock, Dorien Schepers et al. · Annals of Neurology · 2013 · 275 citations

Life Sciences, Molecular Genetics, Neuroscience +17

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Alexander Doyle, Jefferson J. Doyle, Seneca L. Bessling et al. · Nature Genetics · 2012 · 262 citations · Full text

Medicine, Cardiology, Cardiovascular Genetics +10

A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

Dorien Schepers, Giada Tortora, Hiroko Morisaki et al. · Human Mutation · 2018 · 168 citations · Full text

Medicine, Craniofacial Biology, Molecular Genetics +17

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Nikhita Bolar, Christelle Golzio, Martina Živná et al. · The American Journal of Human Genetics · 2016 · 159 citations · Full text

Medicine, Genetics, Molecular Genetics +17