Marja W. Wessels

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals et al. · Nature Genetics · 2011 · 674 citations

Medicine, Cardiology, Molecular Genetics +11

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul Coucke, Andy Willaert, Marja W. Wessels et al. · Nature Genetics · 2006 · 398 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 350 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 316 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki et al. · Journal of the American College of Cardiology · 2015 · 297 citations · Full text

Medicine, Cardiology, Genetics +16