Simone Salemink

A Dominant-Negative <i>GFI1B</i> Mutation in the Gray Platelet Syndrome

Davide Monteferrario, Nikhita Bolar, Anna E. Marneth et al. · New England Journal of Medicine · 2013 · 162 citations · Full text

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Dorien Proost, Geert Vandeweyer, Josephina Meester et al. · Human Mutation · 2015 · 117 citations

Taa Genes, Functional Genomics, Engineering +12

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Elisabeth Gillis, Ajay Kumar, Ilse Luyckx et al. · Frontiers in Physiology · 2017 · 107 citations · Full text

Hypertrophic remodelling in cardiac regulatory myosin light chain (<i>MYL2</i>) founder mutation carriers

Godelieve R.F. Claes, Florence H. J. van Tienen, Patrick Lindsey et al. · European Heart Journal · 2015 · 76 citations · Full text

Urinary heparanase activity in patients with Type 1 and Type 2 diabetes

Angelique L. Rops, M.J. van den Hoven, B. A. J. Veldman et al. · Nephrology Dialysis Transplantation · 2011 · 43 citations