Hanka Venselaar
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Hearing, Cochlea, Tinnitus, Genetics, Retinal Development and Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces(2010)1,159 cited
- → Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections(2009)735 cited
- → Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis(2011)663 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections(2015)291 cited
- → Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype(2009)257 cited