Yvonne Hilhorst‐Hofstee

The revised Ghent nosology for the Marfan syndrome: Table 1

Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text

Medicine, Clinical Sciences, Pediatrics +11

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 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

Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation

M.J.E. Walenkamp, Marcel Karperien, Alberto M. Pereira et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 314 citations · Full text

Medicine, Endocrinology, Genetics +17

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Chantal Stoepker, Karolina Hain, Beatrice Schuster et al. · Nature Genetics · 2011 · 299 citations

Life Sciences, Genetics, Molecular Biology +9