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Issue Date	Title	Author(s)
2012	Project HOPE : providing the last piece of the puzzle	Venselaar, H.
2012	Phosphorylation target site specificity for AGC kinases DMPK E and Lats2.	Gerrits, L.; Venselaar, H.; Wieringa, B.; Wansink, D.G.; Hendriks, W.J.A.J.
2012	A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain	Cho, H.J.; Park, H.J.; Trexler, M.; Venselaar, H.; Lee, K.Y.; Robertson, N.G.; Baek, J.I.; Kang, B.S.; Morton, C.C.; Vriend, G.; Patthy, L.; Kim, U.K.
2012	Dominant missense mutations in ABCC9 cause Cantu syndrome.	Harakalova, M.; Harssel, J.J. van; Terhal, P.A.; Lieshout, S. van; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; Heyden, M.A. van der; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.A.M.; Smagt, J.J. van der; Nijman, IJ; Kloosterman, W.P.; Haelst, M.M. van; Haaften, G. van; Cuppen, E.
2012	Membrane topology and intracellular processing of cyclin M2 (CNNM2).	Baaij, J.H.F. de; Stuiver, M.; Meij, I.C.; Lainez, S.; Kopplin, K.; Venselaar, H.; Muller, D.; Bindels, R.J.M.; Hoenderop, J.G.J.
2012	Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa	Ajmal, M.; Khan, M.I.; Micheal, S.; Ahmed, W.; Shah, A.; Venselaar, H.; Bokhari, H.; Azam, A.; Waheed, N.K.; Collin, R.W.J.; Hollander, A.I. den; Qamar, R.; Cremers, F.P.
2012	NPHP4 variants are associated with pleiotropic heart malformations.	French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.
2012	A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.	Ngu, L.H.; Nijtmans, L.G.J.; Distelmaier, F.; Venselaar, H.; Emst-de Vries, S.E. van; Brand, M.A.M. van den; Stoltenborg, B.J.M.; Wintjes, L.T.; Willems, P.H.G.M.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Rodenburg, R.J.T.
2011	The future of HOPE: what can and cannot be predicted about the molecular effects of a disease causing point mutation in a protein?	Camilli, F.; Borrmann, A.; Gholizadeh, S.; Beek, T.A.H. te; Kuipers, R.K.P.; Venselaar, H.
2011	The structure-function relationship of the Aspergillus fumigatuscyp51A L98H conversion by site-directed mutagenesis: the mechanism of L98H azole resistance	Snelders, E.; Karawajczyk, A.; Verhoeven, R.J.; Venselaar, H.; Schaftenaar, G.; Verweij, P.E.; Melchers, W.J.G.
2011	Mass spectrometry analysis of hepcidin peptides in experimental mouse models	Tjalsma, H.; Laarakkers, C.M.; van Swelm, R.P.; Theurl, M.; Theurl, I.; Kemna, E.H.J.M.; Burgt, Y.E. van der; Venselaar, H.; Dutilh, B.E.; Russel, F.G.M.; Weiss, G.; Masereeuw, R.; Fleming, R.E.; Swinkels, D.W.
2011	Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis	Laar, I.M. van de; Oldenburg, R.A.; Pals, G.; Roos-Hesselink, J.W.; Graaf, B.M. de; Verhagen, J.M.; Hoedemaekers, Y.M.; Willemsen, R.; Severijnen, L.A.; Venselaar, H.; Vriend, G.; Pattynama, P.M.; Collee, M.; Majoor-Krakauer, D.; Poldermans, D.; Frohn-Mulder, I.M.; Micha, D.; Timmermans, J.; Hilhorst-Hofstee, Y.; Bierma-Zeinstra, S.M.; Willems, P.J.; Kros, J.M.; Oei, E.H.; Oostra, B.A.; Wessels, M.W.; Bertoli-Avella, A.M.
2011	Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors	Poulton, C.J.; Schot, R.; Kia, S.K.; Jones, M.; Verheijen, F.W.; Venselaar, H.; Wit, M.C. de; Graaff, E. de; Bertoli-Avella, A.M.; Mancini, G.M.
2011	Variation in genes of beta-glucan recognition pathway and susceptibility to opportunistic infections in HIV-positive patients	Rosentul, D.C.; Plantinga, T.S.; Papadopoulos, A.; Joosten, L.A.B.; Antoniadou, A.; Venselaar, H.; Kullberg, B.J.; Meer, J.W.M. van der; Giamarellos-Bourboulis, E.J.; Netea, M.G.
2011	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP	Vissers, L.E.L.M.; Lausch, E.; Unger, S.; Campos-Xavier, A.B.; Gilissen, C.F.H.A.; Rossi, A. de; Rosario, M. del; Venselaar, H.; Knoll, U.; Nampoothiri, S.; Nair, M.; Spranger, J.; Brunner, H.G.; Bonafe, L.; Veltman, J.A.; Zabel, B.; Superti-Furga, A.
2011	Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle	Smits, P.; Antonicka, H.; Hasselt, P.M. van; Weraarpachai, W.; Haller, W.; Schreurs, M.; Venselaar, H.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den
2011	Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations	Weegerink, N.J.D.; Schraders, M.; Oostrik, J.; Huygen, P.L.M.; Strom, T.M.; Granneman, S.; Pennings, R.J.E.; Venselaar, H.; Hoefsloot, L.H.; Elting, M.; Cremers, C.W.R.J.; Admiraal, R.J.C.; Kremer, J.M.J.; Kunst, H.P.M.
2010	Synthesis of covalently linked enzyme dimers	Schoffelen, S.; Schobers, L.; Venselaar, H.; Vriend, G.; Hest, J.C.M. van
2010	Homology modelling and spectroscopy, a never-ending love story.	Venselaar, H.; Joosten, R.P.; Vroling, B.; Baakman, C.A.; Hekkelman, M.L.; Krieger, E.; Vriend, G.
2010	Protein structure analysis of mutations causing inheritable diseases : an e-science approach with life scientist friendly interfaces	Venselaar, H.; Beek, T.A.H. te; Kuipers, R.K.P.; Hekkelman, M.L.; Vriend, G.
2010	The alpha-kinase family: an exceptional branch on the protein kinase tree.	Middelbeek, J.A.J.; Clark, K.; Venselaar, H.; Huynen, M.A.; Leeuwen, F.N. van
2010	Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.	Waanders, E.; Venselaar, H.; Morsche, R.H.M. te; Koning, D.B. de; Kamath, P.S.; Torres, V.E.; Somlo, S.; Drenth, J.P.H.
2010	Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.	Sun, Y.; Almomani, R.; Aten, E.; Celli, J.; Heijden, J. van der; Venselaar, H.; Robertson, S.P.; Baroncini, A.; Franco, B.; Basel-Vanagaite, L.; Horii, E.; Drut, R.; Ariyurek, Y.; Dunnen, J.T. den; Breuning, M.H.
2010	The moonlighting function of pyruvate carboxylase resides in the non-catalytic end of the TIM barrel.	Huberts, D.H.; Venselaar, H.; Vriend, G.; Veenhuis, M.; Klei, I.J. van der
2010	Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.	Nouws, J.; Nijtmans, L.G.J.; Houten, S.M.; Brand, M. van den; Huijnen, M.A.; Venselaar, H.; Hoefs, S.J.G.; Gloerich, J.; Kronick, J.; Hutchin, T.; Willems, P.H.G.M.; Rodenburg, R.J.T.; Wanders, R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Vogel, R.O.
2010	Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.	Nikopoulos, K.; Venselaar, H.; Collin, R.W.J.; Riveiro-Alvarez, R.; Boonstra, F.N.; Hooymans, J.M.; Mukhopadhyay, A.; Shears, D.; Bers, M. van; Wijs, I.J. de; Essen, A.J. van; Sijmons, R.H.; Tilanus, M.A.D.; Nouhuys, C.E. van; Ayuso, C.; Hoefsloot, L.H.; Cremers, F.P.M.
2010	Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.	Wijst, J.A.J. van der; Glaudemans, B.; Venselaar, H.; Nair, A.V.; Forst, A.L.; Hoenderop, J.G.J.; Bindels, R.J.M.
2009	Role of the C-terminal linear region of EGF-like growth factors in ErbB specificity	Woning, S.P. van der; Venselaar, H.; Rotterdam, W. van; Jacobs-Oomen, S.; Leeuwen, J.E.M. van; Zoelen, E.J.J. van
2009	Role of the C-terminal linear region of EGF-like growth factors in ErbB specificity.	Woning, S.P. van der; Venselaar, H.; Rotterdam, W. van; Jacobs-Oomen, S.; Leeuwen, J.E. van; Zoelen, E.J. van
2009	Human dectin-1 deficiency and mucocutaneous fungal infections.	Ferwerda, E.B.; Ferwerda, G.; Plantinga, T.S.; Willment, J.A.; Spriel, A.B. van; Venselaar, H.; Elbers, C.C.; Johnson, M.D.; Cambi, A.; Huysamen, C.; Jacobs, L.; Jansen, T.J.G.; Verheijen, K.; Masthoff, L.; Morre, S.A.; Vriend, G.; Williams, D.L.; Perfect, J.R.; Joosten, L.A.B.; Wijmenga, C.; Meer, J.W.M. van der; Adema, G.J.; Kullberg, B.J.; Brown, G.D.; Netea, M.G.
2009	Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.	Saada, A.; Vogel, R.O.; Hoefs, S.J.G.; Brand, M.A.M. van den; Wessels, H.J.; Willems, P.H.G.M.; Venselaar, H.; Shaag, A.; Barghuti, F.; Reish, O.; Shohat, M.; Huijnen, M.A.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J.
2009	Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.	Kleefstra, T.; Zelst-Stams, W.A. van; Nillesen, W.M.; Cormier-Daire, V.; Houge, G.; Foulds, N.; Dooren, M. van; Willemsen, M.H.; Pfundt, R.P.; Turner, A.; Wilson, M.; McGaughran, J.; Rauch, A.; Zenker, M.; Adam, M.P.; Innes, M.; Davies, C.; Lopez, A.G.; Casalone, R.; Weber, A.; Brueton, L.; Navarro, A.D.; Bralo, M.P.; Venselaar, H.; Stegmann, S.P.; Yntema, H.G.; Bokhoven, J.H.L.M. van; Brunner, H.G.
2009	A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.	Littink, K.W.; Genderen, M. van; Collin, R.W.J.; Roosing, S.; Brouwer, A.P.M. de; Riemslag, F.C.; Venselaar, H.; Thiadens, A.A.H.J.; Hoyng, C.B.; Rohrschneider, K.; Hollander, A.I. den; Cremers, F.P.M.; Born, L.I. van den
2009	Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.	Lee, H.K.; Song, M.H.; Kang, M.; Lee, J.T.; Kong, K.A.; Choi, S.J.; Lee, K.Y.; Venselaar, H.; Vriend, G.; Lee, W.S.; Park, H.J.; Kwon, T.K.; Bok, J.; Kim, U.K.
2008	Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.	Ahmed, Z.M.; Riazuddin, Saima; Aye, S.; Ali, R.A.; Venselaar, H.; Anwar, S.; Belyantseva, P.P.; Qasim, M.; Riazuddin, Sheikh; Friedman, T.B.
2008	Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.	Ahmed, Z.M.; Masmoudi, S.; Kalay, E.; Belyantseva, I.A.; Mosrati, M.A.; Collin, R.W.J.; Riazuddin, Saima; Hmani-Aifa, M.; Venselaar, H.; Kawar, M.N.; Tlili, A.; Zwaag, B. van der; Khan, S.; Ayadi, L.; Riazuddin, S.A.; Morell, R.J.; Griffith, A.J.; Charfedine, I.; Caylan, R.; Oostrik, J.; Karaguzel, A.; Ghorbel, A.; Riazuddin, Sheikh; Friedman, T.B.; Ayadi, H.; Kremer, H.
2008	Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.	Collin, R.W.J.; Kalay, E.; Tariq, M.; Peters, T.A.; Zwaag, B. van der; Venselaar, H.; Oostrik, J.; Lee, K.; Ahmed, Z.M.; Caylan, R.; Li, Y.; Spierenburg, H.A.; Eyupoglu, E.; Heister, A.; Riazuddin, Saima; Bahat, E.; Ansar, M.; Arslan, S.; Wollnik, B.; Brunner, H.G.; Cremers, C.W.R.J.; Karaguzel, A.; Ahmad, W.; Cremers, F.P.M.; Vriend, G.; Friedman, T.B.; Riazuddin, Sheikh; Leal, S.M.; Kremer, H.
2008	Role of the alpha-kinase domain in transient receptor potential melastatin 6 channel and regulation by intracellular ATP.	Thebault, S.; Cao, G.; Venselaar, H.; Xi, Q.; Bindels, R.J.M.; Hoenderop, J.G.J.
2008	A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.	Swinkels, D.W.; Venselaar, H.; Wiegerinck, E.T.G.; Bakker, E.; Joosten, I.; Jaspers, C.A.; Vasmel, W.L.; Breuning, M.H.
2006	Negative constraints underlie the ErbB specificity of epidermal growth factor-like ligands	Woning, S.P. van der; Rotterdam, W. van; Nabuurs, S.B.; Venselaar, H.; Jacobs-Oomen, S.; Wingens, M.; Vriend, G.; Stortelers, C.; Zoelen, E.J.J. van