Hanka Venselaar

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Hanka Venselaar, Tim AH te Beek, Remko Kuipers et al. · BMC Bioinformatics · 2010 · 1.1K citations · Full text

Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections

Bart Ferwerda, Gerben Ferwerda, Theo S. Plantinga et al. · New England Journal of Medicine · 2009 · 734 citations · Full text

Antifungal Agent, Autoimmune Disease, Antifungal Agents +15

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 DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +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 · 290 citations · Full text