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Full Text	Issue Date	Title	Author(s)
	2012	Neuropsychological phenotyping of genetic syndromes	Egger, J.I.M.; Koolen, D.A.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Kleefstra, T.; Vries, L.B.A. de
	2012	Social cognition and the behavioural phenotype of 17q21.31 microdeletion syndrome	Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Kessels, R.P.C.; Koolen, D.A.
	2010	Subtelomeric chromosomal anomalies in infantile epileptic encephalopathies.	Ruiter, M.; Pfundt, R.; Koolen, D.A.; Sistermans, E.A.; Nillesen, W.M.; Ravenswaaij, C.M.A. van; Vries, B. de; Willemsen, M.A.A.P.
	2010	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.	Bon, B.W.M. van; Koolen, D.A.; Brueton, L.; McMullan, D.; Lichtenbelt, K.D.; Ades, L.C.; Peters, G.; Gibson, K.; Moloney, S.; Novara, F.; Pramparo, T.; Bernardina, B. Dalla; Zoccante, L.; Balottin, U.; Piazza, F.; Pecile, V.; Gasparini, P.; Guerci, V.; Kets, M.; Pfundt, R.; Brouwer, A.P.M. de; Veltman, J.A.; Leeuw, N. de; Wilson, M.; Antony, J.; Reitano, S.; Luciano, D.; Fichera, M.; Romano, C.; Brunner, H.G.; Zuffardi, O.; Vries, L.B.A. de
	2009	Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.	Koolen, D.A.; Pfundt, R.P.; Leeuw, N. de; Hehir-Kwa, J.Y.; Nillesen, W.M.; Neefs, I.; Scheltinga, I.; Sistermans, E.A.; Smeets, D.F.C.M.; Brunner, H.G.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Vries, L.B.A. de
	2009	Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.	Bon, B.W.M. van; Mefford, H.C.; Menten, B.; Koolen, D.A.; Sharp, A.J.; Nillesen, W.M.; Innis, J.W.; Ravel, T.J. de; Mercer, C.L.; Fichera, M.; Stewart, H.; Connell, L.E.; Ounap, K.; Lachlan, K.; Castle, B.; Aa, N. van der; Ravenswaaij-Arts, C.M.A. van; Nobrega, M.A.; Serra-Juhe, C.; Simonic, I.; Leeuw, N. de; Pfundt, R.P.; Bongers, E.M.H.F.; Baker, C.; Finnemore, P.; Huang, S.; Maloney, V.K.; Crolla, J.A.; Kalmthout, M. van; Elia, M.; Weyer, G. van de; Fryns, J.P.; Janssens, S.; Foulds, N.; Reitano, S.; Smith, K.; Parkel, S.; Loeys, B.; Woods, C.G.; Oostra, A.; Speleman, F.; Pereira, A.C.; Kurg, A.; Willatt, L.; Knight, S.J.; Vermeesch, J.R.; Romano, C.; Barber, J.C.; Mortier, G.; Perez-Jurado, L.A.; Kooy, F.; Brunner, H.G.; Eichler, E.E.; Kleefstra, T.; Vries, L.B.A. de
	2008	Copy number variation and mental retardation	Koolen, D.A.
	2008	Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.	Bon, B.W.M. van; Koolen, D.A.; Pfundt, R.P.; Burgt, I. van der; Leeuw, N. de; Vries, L.B.A. de
	2008	A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.	Leeuw, N. de; Pfundt, R.P.; Koolen, D.A.; Neefs, I.; Scheltinga, I.; Mieloo, H.; Sistermans, E.A.; Nillesen, W.; Smeets, D.F.C.M.; Vries, L.B.A. de; Knoers, N.V.A.M.
	2008	Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.	Koolen, D.A.; Sistermans, E.A.; Nilessen, W.; Knight, S.J.; Regan, R.; Liu, Y.T.; Kooy, R.F.; Rooms, L.; Romano, C.; Fichera, M.; Schinzel, A.; Baumer, A.; Anderlid, B.M.; Schoumans, J.; Geurts van Kessel, A.H.M.; Nordenskjold, M.; Vries, L.B.A. de
	2008	Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.	Bon, B.W.M. van; Koolen, D.A.; Borgatti, R.; Magee, A.; Garcia-Minaur, S.; Rooms, L.; Reardon, W.; Zollino, M.; Bonaglia, M.C.; Gregori, M. de; Novara, F.; Grasso, R.; Ciccone, R.; Duyvenvoorde, H.A. van; Aalbers, A.M.; Guerrini, R.; Fazzi, E.; Nillesen, W.M.; McCullough, S.; Kant, S.G.; Marcelis, C.L.M.; Pfundt, R.P.; Leeuw, N. de; Smeets, D.; Sistermans, E.A.; Wit, J.M.; Hamel, B.C.J.; Brunner, H.G.; Kooy, F.; Zuffardi, O.; Vries, L.B.A. de
	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	Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.	Bon, B.W.M. van; Koolen, D.A.; Feenstra, I.; Neefs, I.; Pfundt, R.; Smeets, D.F.C.M.; Vries, B. de
	2007	A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.	Vermeer, S.; Koolen, D.A.; Visser, G.; Brackel, H.J.; Burgt, I. van der; Leeuw, N. de; Willemsen, M.A.A.P.; Sistermans, E.A.; Pfundt, R.; Vries, B.B. van
	2007	Pure subtelomeric microduplications as a cause of mental retardation.	Ruiter, E.M.; Koolen, D.A.; Kleefstra, T.; Nillesen, W.M.; Pfundt, R.; Leeuw, N. de; Hamel, B.C.J.; Brunner, H.G.; Sistermans, E.A.; Vries, B.B. van
	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	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.	Koolen, D.A.; Herbergs, J.; Veltman, J.A.; Pfundt, R.; Bokhoven, J.H.L.M. van; Stroink, H.; Sistermans, E.A.; Brunner, H.G.; Geurts van Kessel, A.H.M.; Vries, L.B.A. de
	2006	Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.	Feenstra, I.; Koolen, D.A.; Pas, J. van der; Hamel, B.C.J.; Mieloo, H.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van
	2006	A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.	Ruiter, M.; Koolen, D.A.; Pfundt, R.; Leeuw, N. de; Klinkers, H.M.; Sistermans, E.A.; Veltman, J.A.; Vries, L.B.A. de
	2006	Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.	Kleefstra, T.; Koolen, D.A.; Nillesen, W.M.; Leeuw, N. de; Hamel, B.C.J.; Veltman, J.A.; Sistermans, E.A.; Bokhoven, J.H.L.M. van; Ravenswaaij-Arts, C.M.A. van; Vries, L.B.A. de
	2006	European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.	Feenstra, I.; Fang, J.; Koolen, D.A.; Siezen, A.; Evans, C.; Winter, R.M.; Lees, M.; Riegel, M.; Vries, L.B.A. de; Ravenswaaij-Arts, C.M.A. van; Schinzel, A.
	2005	Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.	Koolen, D.A.; Knoers, N.V.A.M.; Nillesen, W.M.; Slabbers, G.H.; Smeets, D.F.C.M.; Leeuw, N. de; Sistermans, E.A.; Vries, L.B.A. de
	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.
	2005	Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.	Koolen, D.A.; Reardon, W.; Rosser, E.M.; Lacombe, D.; Hurst, J.A.; Law, C.J.; Bongers, E.M.H.F.; Ravenswaaij-Arts, C.M.A. van; Leisink, M.A.R.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Vries, L.B.A. de
	2004	Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization.	Koolen, D.A.; Veltman, J.A.; Renier, W.O.; Droog, R.P.; Geurts van Kessel, A.H.M.; Vries, L.B.A. de
	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	Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).	Koolen, D.A.; Nillesen, W.M.; Versteeg, M.H.; Merkx, G.F.M.; Knoers, N.V.A.M.; Kets, M.; Vermeer, S.; Ravenswaaij-Arts, C.M.A. van; Kovel, C.G.F. de; Brunner, H.G.; Smeets, D.F.C.M.; Vries, L.B.A. de; Sistermans, E.A.

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