Marlies Kempers

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (<i>THOX2</i>) and Congenital Hypothyroidism

J.C. Moreno, Hennie Bikker, Marlies Kempers et al. · New England Journal of Medicine · 2002 · 474 citations · Full text

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 · 454 citations · Full text

Thoracic Aortic Aneurysm, Syndromic Presentation, Developmental Biology +5

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 304 citations · Full text

Baraitser-winter Syndrome, Genetic Disorder, Genetics +6

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 · 290 citations · Full text

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Marlies Kempers, Roland P. Kuiper, Charlotte W. Ockeloen et al. · The Lancet Oncology · 2010 · 287 citations · Full text

Cancer Risk, Medicine, Colorectal Cancer +6