| Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces H Venselaar, TAH Te Beek, RKP Kuipers, ML Hekkelman, G Vriend BMC bioinformatics 11, 1-10, 2010 | 1072 | 2010 |
| Human dectin-1 deficiency and mucocutaneous fungal infections B Ferwerda, G Ferwerda, TS Plantinga, JA Willment, AB Van Spriel, ... New England Journal of Medicine 361 (18), 1760-1767, 2009 | 860 | 2009 |
| Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis IMBH van de Laar, RA Oldenburg, G Pals, JW Roos-Hesselink, ... Nature genetics 43 (2), 121-126, 2011 | 717 | 2011 |
| Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections AM Bertoli-Avella, E Gillis, H Morisaki, JMA Verhagen, BM De Graaf, ... Journal of the American College of Cardiology 65 (13), 1324-1336, 2015 | 308 | 2015 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 270 | 2015 |
| Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype T Kleefstra, WA van Zelst-Stams, WM Nillesen, V Cormier-Daire, G Houge, ... Journal of medical genetics 46 (9), 598-606, 2009 | 236 | 2009 |
| Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I J Nouws, L Nijtmans, SM Houten, M van den Brand, M Huynen, ... Cell metabolism 12 (3), 283-294, 2010 | 219 | 2010 |
| Dominant missense mutations in ABCC9 cause Cantú syndrome M Harakalova, JJT Van Harssel, PA Terhal, S Van Lieshout, K Duran, ... Nature genetics 44 (7), 793-796, 2012 | 208 | 2012 |
| Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease A Saada, RO Vogel, SJ Hoefs, MA van den Brand, HJ Wessels, ... The American Journal of Human Genetics 84 (6), 718-727, 2009 | 199 | 2009 |
| Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP K Nikopoulos, H Venselaar, RWJ Collin, R Riveiro‐Alvarez, FN Boonstra, ... Human mutation 31 (6), 656-666, 2010 | 173 | 2010 |
| The alpha-kinase family: an exceptional branch on the protein kinase tree J Middelbeek, K Clark, H Venselaar, MA Huynen, FN Van Leeuwen Cellular and molecular life sciences 67, 875-890, 2010 | 139 | 2010 |
| Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35 RWJ Collin, E Kalay, M Tariq, T Peters, B van der Zwaag, H Venselaar, ... The American Journal of Human Genetics 82 (1), 125-138, 2008 | 131 | 2008 |
| Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer RM de Voer, AG van Kessel, RDA Weren, MJL Ligtenberg, D Smeets, ... Gastroenterology 145 (3), 544-547, 2013 | 126 | 2013 |
| CAD mutations and uridine-responsive epileptic encephalopathy J Koch, JA Mayr, B Alhaddad, C Rauscher, J Bierau, R Kovacs-Nagy, ... Brain 140 (2), 279-286, 2017 | 114 | 2017 |
| Membrane topology and intracellular processing of cyclin M2 (CNNM2) JHF de Baaij, M Stuiver, IC Meij, S Lainez, K Kopplin, H Venselaar, ... Journal of biological chemistry 287 (17), 13644-13655, 2012 | 109 | 2012 |
| Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome ZM Ahmed, S Riazuddin, S Aye, RA Ali, H Venselaar, S Anwar, ... Human genetics 124, 215-223, 2008 | 108 | 2008 |
| Spatial clustering of de novo missense mutations identifies candidate neurodevelopmental disorder-associated genes SH Lelieveld, L Wiel, H Venselaar, R Pfundt, G Vriend, JA Veltman, ... The American Journal of Human Genetics 101 (3), 478-484, 2017 | 103 | 2017 |
| The structure–function relationship of the Aspergillus fumigatus cyp51A L98H conversion by site-directed mutagenesis: the mechanism of L98H azole resistance E Snelders, A Karawajczyk, RJA Verhoeven, H Venselaar, G Schaftenaar, ... Fungal Genetics and Biology 48 (11), 1062-1070, 2011 | 103 | 2011 |
| Mutations in the epithelial cadherin-p120-catenin complex cause mendelian non-syndromic cleft lip with or without cleft palate LL Cox, TC Cox, LMM Uribe, Y Zhu, CT Richter, N Nidey, JM Standley, ... The American Journal of Human Genetics 102 (6), 1143-1157, 2018 | 101 | 2018 |
| Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors CJ Poulton, R Schot, SK Kia, M Jones, FW Verheijen, H Venselaar, ... The American Journal of Human Genetics 89 (2), 265-276, 2011 | 101 | 2011 |
