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Issue Date	Title	Author(s)
2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan	Roscioli, T.; Reeuwijk, J. van; Elzen, C. van den; Beusekom, E. van; Pfundt, R.; Vissers, L.E.L.M.; Buckley, M.F.; Zhou, H.; Veltman, J.A.; Gilissen, C.; Bokhoven, Hans van
2011	Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans.	Feenstra, I.; Vissers, L.E.L.M.; Pennings, R.J.E.; Nillesen, W.M.; Pfundt, R.; Kunst, H.P.; Admiraal, R.J.; Veltman, J.A.; Ravenswaaij-Arts, C.M.A. van; Brunner, H.G.; Cremers, C.W.R.J.
2011	De novo copy number variants associated with intellectual disability have a paternal origin and age bias	Hehir, J.Y.; Rodriguez-Santiago, B.; Vissers, L.E.L.M.; Leeuw, N. de; Pfundt, R.; Buitelaar, J.K.; Perez-Jurado, L.A.; Veltman, J.A.
2011	Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)	Vissers, L.E.L.M.; Fano, V.; Martinelli, D.; Campos-Xavier, B.; Barbuti, D.; Cho, T.J.; Dursun, A.; Kim, O.H.; Lee, S.; Timpani, G.; Nishimura, G.; Unger, S.; Sass, J.O.; Veltman, J.A.; Brunner, H.G.; Bonafe, L.; Dionisi-Vici, C.; Superti-Furga, 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	Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice	Vissers, L.E.L.M.; Cox, T.C.; Maga, A.M.; Short, K.M.; Wiradjaja, F.; Janssen, I.M.; Jehee, F.; Bertola, D.; Liu, J.; Yagnik, G.; Sekiguchi, K.; Kiyozumi, D.; Bokhoven, J.H.L.M. van; Marcelis, C.L.M.; Cunningham, M.L.; Anderson, P.J.; Boyadjiev, S.A.; Passos-Bueno, M.R.; Veltman, J.A.; Smyth, I.; Buckley, M.F.; Roscioli, T.
2011	Recurrence and variability of germline EPCAM deletions in Lynch syndrome	Kuiper, R.P.; Vissers, L.E.L.M.; Venkatachalam, R.; Bodmer, D.; Hoenselaar, E.; Goossens, M.; Haufe, A.; Kamping, E.J.; Niessen, R.C.; Hogervorst, F.B.L.; Gille, J.J.P.; Redeker, B.; Tops, C.M.; Gijn, M.E. van; Ouweland, A.M. van den; Rahner, N.; Steinke, V.; Kahl, P.; Holinski-Feder, E.; Morak, M.; Kloor, M.; Stemmler, S.; Betz, B.; Hutter, P.; Bunyan, D.J.; Syngal, S.; Culver, J.O.; Graham, T.; Chan, T.L.; Nagtegaal, I.D.; Krieken, J.H. van; Schackert, H.K.; Hoogerbrugge, N.; Geurts van Kessel, A.H.M.; Ligtenberg, M.J.L.
2010	Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.	Rao, P.N.; Li, W.; Vissers, L.E.L.M.; Veltman, J.A.; Ophoff, R.A.
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.
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.
2008	Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.	Swinkels, M.E.; Simons, A.; Smeets, D.F.C.M.; Vissers, L.E.L.M.; Veltman, J.A.; Pfundt, R.P.; Vries, L.B.A. de; Faas, B.H.W.; Schrander-Stumpel, C.T.; McCann, E.; Sweeney, E.; May, P.; Draaisma, J.M.T.; Knoers, N.V.A.M.; Geurts van Kessel, A.H.M.; Ravenswaaij-Arts, C.M.A. van
2008	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.	Koolen, D.A.; Sharp, A.J.; Hurst, J.A.; Firth, H.V.; Knight, S.J.; Goldenberg, A.; Saugier-Veber, P.; Pfundt, R.P.; Vissers, L.E.L.M.; Destree, A.; Grisart, B.; Rooms, L.; Aa, N. van der; Field, M.; Hackett, A.; Bell, K.; Nowaczyk, M.J.; Mancini, G.M.; Poddighe, P.J.; Schwartz, C.E.; Rossi, E.; Gregori, M. de; Antonacci-Fulton, L.L.; McLellan, MD2nd; Garrett, J.M.; Wiechert, M.A.; Miner, T.L.; Crosby, S.; Ciccone, R.; Willatt, L.; Rauch, A.; Zenker, M.; Aradhya, S.; Manning, M.A.; Strom, T.M.; Wagenstaller, J.; Krepischi-Santos, A.C.; Vianna-Morgante, A.M.; Rosenberg, C.; Price, S.M.; Stewart, H.; Shaw-Smith, C.; Brunner, H.G.; Wilkie, A.O.; Veltman, J.A.; Zuffardi, O.; Eichler, E.E.; Vries, L.B.A. de
2007	Variation of CNV distribution in five different ethnic populations.	White, S.J.; Vissers, L.E.L.M.; Geurts van Kessel, A.H.M.; Menezes, R.X. de; Kalay, E.; Lehesjoki, A.E.; Giordano, P.C.; Vosse, E. van de; Breuning, M.H.; Brunner, H.G.; Dunnen, J.T. den; Veltman, J.A.
2007	Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.	Schlaubitz, S.; Yatsenko, S.A.; Smith, L.D.; Keller, K.L.; Vissers, L.E.L.M.; Scott, D.A.; Cai, W.W.; Reardon, W.; Abdul-Rahman, O.A.; Lammer, E.J.; Lifchez, C.A.; Magenis, E.; Veltman, J.A.; Stankiewicz, P.; Zabel, B.U.; Lee, B.
2007	Molecular karyotyping by array CGH : linking gene dosage alterations to disease phenotypes	Vissers, Lisenka Elisabeth Louisa Maria
2007	Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.	Feenstra, I.; Vissers, L.E.L.M.; Orsel, M.; Geurts van Kessel, A.H.M.; Brunner, H.G.; Veltman, J.A.; Ravenswaaij-Arts, C.M.A. van
2007	Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.	Vissers, L.E.L.M.; Stankiewicz, P.; Yatsenko, S.A.; Crawford, E.; Creswick, H.; Proud, V.K.; Vries, B. de; Pfundt, R.; Marcelis, C.L.M.; Zackowski, J.; Bi, W.; Geurts van Kessel, A.H.M.; Lupski, J.R.; Veltman, J.A.
2006	A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.	Koolen, D.A.; Vissers, L.E.L.M.; Pfundt, R.; Leeuw, N. de; Knight, S.J.; Regan, R.; Kooy, R.F.; Reyniers, E.; Romano, C.; Fichera, M.; Schinzel, A.; Baumer, A.; Anderlid, B.M.; Schoumans, J.; Knoers, N.V.A.M.; Geurts van Kessel, A.H.M.; Sistermans, E.A.; Veltman, J.A.; Brunner, H.G.; Vries, L.B.A. de
2006	CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.	Jongmans, M.C.J.; Admiraal, R.J.C.; Donk, K.P. van der; Vissers, L.E.L.M.; Baas, A.; Kapusta, L.; Hagen, J.M. van; Donnai, D.; Ravel, T.J. de; Veltman, J.A.; Geurts van Kessel, A.H.M.; Vries, L.B.A. de; Brunner, H.G.; Hoefsloot, L.H.; Ravenswaaij-Arts, C.M.A. van
2005	Identification of disease genes by whole genome CGH arrays.	Vissers, L.E.L.M.; Veltman, J.A.; Geurts van Kessel, A.H.M.; Brunner, H.G.
2005	Diagnostic genome profiling in mental retardation.	Vries, L.B.A. de; Pfundt, R.; Leisink, M.A.R.; Koolen, D.A.; Vissers, L.E.L.M.; Janssen, I.M.; Reijmersdal, S.V. van; Nillesen, W.M.; Huys, E.; Leeuw, N. de; Smeets, D.F.C.M.; Sistermans, E.A.; Feuth, A.B.; Ravenswaaij-Arts, C.M.A. van; Geurts van Kessel, A.H.M.; Schoenmakers, E.F.P.M.; Brunner, H.G.; Veltman, J.A.
2004	A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.	Koolen, D.A.; Vissers, L.E.L.M.; Nillesen, W.M.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van; Sistermans, E.A.; Veltman, J.A.; Vries, B.D. de
2004	Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.	Vissers, L.E.L.M.; Ravenswaaij-Arts, C.M.A. van; Admiraal, R.J.C.; Hurst, J.A.; Vries, L.B.A. de; Janssen, I.M.; Vliet, W.A. van der; Huys, E.; Jong, P.J. de; Hamel, B.C.J.; Schoenmakers, E.F.P.M.; Brunner, H.G.; Veltman, J.A.; Geurts van Kessel, A.H.M.