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Issue Date	Title	Author(s)
2012	Disease gene identification through next generation sequencing	Gilissen, C.F.H.A.
2012	Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells.	Sanecka, A.; Ansems, M.; Hout-Kuijer, M.A. van; Looman, M.W.G.; Prosser, A.C; Welten, S.; Gilissen, C.F.; Sama, I.E.; Huynen, M.A.; Veltman, J.A.; Jansen, B.J.H.; Eleveld-Trancikova, D.; Adema, G.J.
2012	Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome	Santen, G.W.; Aten, E.; Sun, Y; Almomani, R.; Gilissen, C.F.; Nielsen, M.; Kant, S.G.; Snoeck, I.N.; Peeters, E.A.; Hilhorst-Hofstee, Y.; Wessels, M.W.; Hollander, N.S. den; Ruivenkamp, C.A.; van Ommen, G.J.; Breuning, M.H.; den Dunnen, J.T.; van Haeringen, A.; Kriek, M.
2012	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.	Koolen, D.A.; Kramer, J.M.; Neveling, K.; Nillesen, W.M.; Moore-Barton, H.L.; Elmslie, F.V.; Toutain, A.; Amiel, J.; Malan, V.; Tsai, A.C.; Cheung, S.W.; Gilissen, C.F.H.A.; Verwiel, E.T.P.; Martens, S.; Feuth, T.; Bongers, M.H.F.; Vries, P.F. de; Scheffer, H.; Vissers, L.E.L.M.; Brouwer, A.P.M. de; Brunner, H.G.; Veltman, J.A.; Schenck, A.; Yntema, H.G.; Vries, B.B. de
2012	Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability	Kleefstra, T.; Kramer, J.M.; Neveling, K.; Willemsen, M.H.; Koemans, T.S.; Peart-Vissers, L.E.L.M.; Wissink-Lindhout, W.M.; Fenckova, M.; Akker, W.M.R. van den; Nadif Kasri, N.; Nillesen, W.M.; Prescott, T.; Clark, R.D.; Devriendt, K.; Reeuwijk, J. van; Brouwer, A.P. de; Gilissen, C.F.; Zhou, H.; Brunner, H.G.; Veltman, J.A.; Schenck, A.; Bokhoven, H. van
2012	Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis	Toonen, E.J.M.; Gilissen, C.F.; Franke, B.; Kievit, W.; Eijsbouts, A.M.; Broeder, A.A. den; Reijmersdal, S.V. van; Veltman, J.A.; Scheffer, H.; Radstake, T.R.; van Riel, P.L.; Barrera, P.; Coenen, M.J.
2012	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.	Wortmann, S.B.; Vaz, F.M.; Gardeitchik, T.; Vissers, L.E.L.M.; Renkema, G.H.; Schuurs-Hoeijmakers, J.H.M.; Kulik, W.; Lammens, M.M.Y.; Christin, C.; Kluijtmans, L.A.J.; Rodenburg, R.J.T.; Nijtmans, L.G.J.; Grunewald, A.; Klein, C.; Gerhold, J.M.; Kozicz, T.L.; Hasselt, P.M. van; Harakalova, M.; Kloosterman, W.; Baric, I.; Pronicka, E.; Ucar, S.K.; Naess, K.; Singhal, K.K.; Krumina, Z.; Gilissen, C.F.H.A.; Bokhoven, J.H.L.M. van; Veltman, J.A.; Smeitink, J.A.M.; Lefeber, D.J.; Spelbrink, J.N.; Wevers, R.A.; Morava, E.; Brouwer, A.P.M. de
2011	Unlocking Mendelian disease using exome sequencing.	Gilissen, C.F.; Hoischen, A.; Brunner, H.G.; Veltman, J.A.
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	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome	Hoischen, A.; Bon, B.W. van; Rodriguez-Santiago, B.; Gilissen, C.F.H.A.; Vissers, L.E.L.M.; Vries, P.F. de; Janssen, I.M.; Lier, B. van; Hastings, R.; Smithson, S.F.; Newbury-Ecob, R.; Kjaergaard, S.; Goodship, J.; McGowan, R.; Bartholdi, D.; Rauch, A.; Peippo, M.; Cobben, J.M.; Wieczorek, D.; Gillessen-Kaesbach, G.; Veltman, J.A.; Brunner, H.G.; Vries, B.B. de
2011	High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patients	Noordermeer, S.M.; Sanders, M.P.; Gilissen, C.F.; Tonnissen, E.; Heijden, A. van der; Dohner, K.; Bullinger, L.; Jansen, J.H.; Valk, P.J.; Reijden, B.A. van der
2011	Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19	Bredrup, C.; Saunier, S.; Oud, M.M.; Fiskerstrand, T.; Hoischen, A.; Brackman, D.; Leh, S.M.; Midtbo, M.; Filhol, E.; Bole-Feysot, C.; Nitschke, P.; Gilissen, C.F.H.A.; Haugen, O.H.; Sanders, J.S.; Stolte-Dijkstra, I.; Mans, D.A.; Steenbergen, E.; Hamel, B.C.J.; Matignon, M.; Pfundt, R.; Jeanpierre, C.; Boman, H.; Rodahl, E.; Veltman, J.A.; Knappskog, P.M.; Knoers, N.V.A.M.; Roepman, R.; Arts, H.H.
2011	Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta	Becker, J.; Semler, O.; Gilissen, C.F.H.A.; Li, Y.; Bolz, H.J.; Giunta, C.; Bergmann, C.; Rohrbach, M.; Koerber, F.; Zimmermann, K.; Vries, P.F. de; Wirth, B.; Schoenau, E.; Wollnik, B.; Veltman, J.A.; Hoischen, A.; Netzer, C.
2011	STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis	Veerdonk, F.L. van de; Plantinga, T.S.; Hoischen, A.; Smeekens, S.P.; Joosten, L.A.B.; Gilissen, C.F.H.A.; Arts, P.; Rosentul-Amram, D.C.; Carmichael, A.J.; Smits-van der Graaf, C.A.; Kullberg, B.J.; Meer, J.W.M. van der; Lilic, D.; Veltman, J.A.; Netea, M.G.
2010	BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia.	Galen, J.C. van; Kuiper, R.P.; Emst, J.E. van; Levers, M.R.; Tijchon, E.J.H.; Scheijen, B.; Waanders, E.; Reijmersdal, S.V. van; Gilissen, C.F.H.A.; Geurts van Kessel, A.H.M.; Hoogerbrugge, P.M.; Leeuwen, F.N. van
2010	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.	Hoischen, A.; Bon, B.W.M. van; Gilissen, C.F.H.A.; Arts, P.J.W.; Lier, B. van; Steehouwer, M.; Vries, P.F. de; Reuver, R. de; Wieskamp, N.A.W.; Mortier, G.; Devriendt, K.; Amorim, M.Z.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Oley, C.; Henderson, A.; Hayes, I.M.; Thompson, E.M.; Brunner, H.G.; Vries, L.B.A. de; Veltman, J.A.
2010	High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs.	Lammers, G.; Gilissen, C.F.H.A.; Nillesen, S.T.M.; Uijtdewilligen, P.J.E.; Wismans, P.G.P.; Veltman, J.A.; Daamen, W.F.; Kuppevelt, A.H.M.S.M. van
2010	A de novo paradigm for mental retardation.	Vissers, L.E.L.M.; Ligt, J. de; Gilissen, C.F.H.A.; Janssen, I.M.; Steehouwer, M.; Vries, P.F. de; Lier, B. van; Arts, P.J.W.; Wieskamp, N.A.W.; Rosario, M. del; Bon, B.W.M. van; Hoischen, A.; Vries, L.B.A. de; Brunner, H.G.; Veltman, J.A.
2010	Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.	Gilissen, C.F.H.A.; Arts, H.H.; Hoischen, A.; Spruijt, L.; Mans, D.A.; Arts, P.J.W.; Lier, B. van; Steehouwer, M.; Reeuwijk, J. van; Kant, S.G.; Roepman, R.; Knoers, N.V.A.M.; Veltman, J.A.; Brunner, H.G.
2010	Functional differences between mesenchymal stem cell populations are reflected by their transcriptome.	Jansen, B.J.H.; Gilissen, C.F.H.A.; Roelofs, H.; Oziemlak, A.M.; Veltman, J.A.; Raymakers, R.A.P.; Jansen, J.H.; Kogler, G.; Figdor, C.G.; Torensma, R.; Adema, G.J.
2010	Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.	Taylor, P.J.; Betts, G.A.; Maroulis, S.; Gilissen, C.F.H.A.; Pedersen, R.L.; Mowat, D.R.; Johnston, H.M.; Buckley, M.F.
2010	Accurate distinction of pathogenic from benign CNVs in mental retardation.	Hehir, J.Y.; Wieskamp, N.A.W.; Webber, C.; Pfundt, R.; Brunner, H.G.; Gilissen, C.F.H.A.; Vries, L.B.A. de; Ponting, C.P.; Veltman, J.A.
2010	MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human unrestricted somatic stem cells.	Oziemlak, A.M.; Raymakers, R.A.P.; Bergevoet, S.M.; Gilissen, C.F.H.A.; Jansen, B.J.H.; Adema, G.J.; Kogler, G.; Sage, C. le; Agami, R.; Reijden, B.A. van der; Jansen, J.H.
2010	Massively parallel sequencing of ataxia genes after array-based enrichment.	Hoischen, A.; Gilissen, C.F.H.A.; Arts, P.J.W.; Wieskamp, N.A.W.; Vliet, W. van der; Vermeer, S.; Steehouwer, M.; Vries, P.F. de; Meijer, R.; Seiqueros, J.; Knoers, N.V.A.M.; Buckley, M.F.; Scheffer, H.; Veltman, J.A.
2010	Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.	Nikopoulos, K.; Gilissen, C.F.H.A.; Hoischen, A.; Nouhuys, C.E. van; Boonstra, F.N.; Blokland, E.A.W.; Arts, P.J.W.; Wieskamp, N.A.W.; Strom, T.M.; Ayuso, C.; Tilanus, M.A.D.; Bouwhuis, S.; Mukhopadhyay, A.; Scheffer, H.; Hoefsloot, L.H.; Veltman, J.A.; Cremers, F.P.M.; Collin, R.W.J.
2010	Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells	Tang, L.; Bergevoet, S.M.; Gilissen, C.F.H.A.; Witte, T.J.M. de; Jansen, J.H.; Reijden, B.A. van der; Raymakers, R.A.P.
2010	Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.	Vermeer, S.; Hoischen, A.; Meijer, R.P.; Gilissen, C.F.H.A.; Neveling, K.; Wieskamp, N.A.W.; Brouwer, A.; Koenig, M.; Anheim, M.; Assoum, M.; Drouot, N.; Todorovic, S.; Milic-Rasic, V.; Lochmuller, H.; Stevanin, G.; Goizet, C.; David, A.; Durr, A.; Brice, A.; Kremer, B.; Warrenburg, B.P.C. van de; Schijvenaars, M.M.V.A.P.; Heister, A.; Kwint, M.P.; Arts, P.J.W.; Wijst, J.A.J. van der; Veltman, J.; Kamsteeg, E.J.; Scheffer, H.; Knoers, N.V.A.M.
2009	Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.	Vissers, L.E.L.M.; Bhatt, S.S.; Janssen, I.M.; Xia, Z.; Lalani, S.R.; Pfundt, R.P.; Derwinska, K.; Vries, L.B.A. de; Gilissen, C.F.H.A.; Hoischen, A.; Nesteruk, M.; Wisniowiecka-Kowalnik, B.; Smyk, M.; Brunner, H.G.; Cheung, S.W.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Stankiewicz, P.
2007	Error Probabilities for Local Extrema in Gene Expression Data	Groot, P.C.; Gilissen, C.F.H.A.; Egmont-Peterson, M.
2006	Prediction of protein-to-protein interactions	Gilissen, C.F.H.A.; Groot, P.C.; Lucas, P.; Veltman, J.; Geurts van Kessel, A.H.M.; Egmont-Peterson, M.