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

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 · 663 citations

Cartilage Degeneration, Osteoarthritis, Pathology +6

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 · 348 citations · Full text

Chromatin, Genome Instability, Swi/snf Chromatin +10

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 · 312 citations · Full text

Igf-i Secretion, Human Growth, Genetics +18

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 · 295 citations

Genetic Disorder, Natural Sciences, Genetics +9