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Full Text	Issue Date	Title	Author(s)
	2012	Diagnostic interpretation of array data using public databases and internet sources	de Leeuw, N.; Dijkhuizen, T.; Hehir-Kwa, J.; Carter, N.; Feuk, L.; Firth, H.; Kuhn, R.; Ledbetter, D.; Martin, C.; van Ravenswaaij-Arts, C.; Scherer, S.; Shams, S.; Van Vooren, S.; Sijmons, R.; Swertz, M.; Hastings, R.
	2012	Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.	Gardeitchik, T.; Leeuw, N. de; Nijtmans, L.G.; Jira, P.; Kozicz, T.L.; Czako, M.; Burgt, C.J.A.M. van der; Morava, E.
	2012	A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome	Vulto-van Silfhout, A.T.; de Brouwer, A.F.; de Leeuw, N.; Obihara, C.C.; Brunner, H.G.; de Vries, B.B.
	2012	Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism	Robberecht, C.; Voet, T.; Utine, G.E.; Schinzel, A.; de Leeuw, N.; Fryns, J.P.; Vermeesch, J.
	2012	A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy	Verhoeven, W.M.A.; Egger, J.I.M.; Feenstra, I.; Leeuw, N. de
	2012	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?	Van de Kerkhof, N.W.; Feenstra, I.; van der Heijden, F.M.; de Leeuw, N.; Pfundt, R.; Stöber, G.; Egger, J.I.; Verhoeven, W.M.
	2012	Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion	Mundhofir, F.E.; Smeets, D.; Nillesen, W.; Winarni, T.I.; Yntema, H.G.; de Leeuw, N.; Hamel, B.C.; Faradz, S.M.; van Bon, B.W.
	2012	A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.	Verhoeven, W.M.A.; Egger, J.I.; Feenstra, I.; Leeuw, N. de
	2012	Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies	Willemsen, M.H.; de Leeuw, N.; Brouwer, A.P.M. de; Pfundt, R.; Hehir, J.Y.; Yntema, H.G.; Nillesen, W.M.; de Vries, B.B.; Bokhoven, J.H.L.M. van; Kleefstra, T.
	2012	Genome-wide arrays in routine diagnostics of hematological malignancies	Simons, A.; Sikkema-Raddatz, B.; de Leeuw, N.; Konrad, N.C.; Hastings, R.J.; Schoumans, J.
	2012	A de novo microdeletion in chromosome 8q12.3q13.2: association with mild intellectual disability and epilepsy?	Verhoeven, W.M.A.; Egger, J.I.M.; Feenstra, I.; Leeuw, N. de
	2012	Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.	Koolen, D.A.; Dupont, J.; Leeuw, N. de; Vissers, L.E.L.M.; Heuvel, S.P. van den; Bradbury, A.; Steer, J.; Brouwer, A.P.M. de; Kate, L.P. Ten; Nillesen, W.M.; Vries, B.B. de; Parker, M.J.
	2012	A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.	Molin, A.M.; Andrieux, J.; Koolen, D.A.; Malan, V.; Carella, M.; Colleaux, L.; Cormier-Daire, V.; David, A.; Leeuw, N. de; Delobel, B.; Duban-Bedu, B.; Fischetto, R.; Flinter, F.; Kjaergaard, S.; Kok, F.; Krepischi, A.C.; Caignec, C. Le; Ogilvie, C.M.; Maia, S.; Mathieu-Dramard, M.; Munnich, A.; Palumbo, O.; Papadia, F.; Pfundt, R.; Reardon, W.; Receveur, A.; Rio, M. del; Ronsbro Darling, L.; Rosenberg, C.; Sa, J.; Vallee, L.; Vincent-Delorme, C.; Zelante, L.; Bondeson, M.L.; Anneren, G.
	2012	Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies	Nowakowska, B.A.; de Leeuw, N.; Ruivenkamp, C.A.; Sikkema-Raddatz, B.; Crolla, J.A.; Thoelen, R.; Koopmans, M.; den Hollander, N.; van Haeringen, A.; van der Kevie-Kersemaekers, A.M.; Pfundt, R.; Mieloo, H.; van Essen, T.; de Vries, B.B.; Green, A.; Reardon, W.; Fryns, J.P.; Vermeesch, J.R.
	2012	Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.	Faas, B.H.W.; Feenstra, I.; Eggink, A.J.; Kooper, A.J.A.; Pfundt, R.; Vugt, J.M.G. van; Leeuw, N. de
	2011	SNP array analysis in constitutional and cancer genome diagnostics-copy number variants, genotyping and quality control.	Leeuw, N. de; Hehir-Kwa, J.Y.; Simons, A.; Geurts van Kessel, A.H.M.; Smeets, D.F.; Faas, B.H.W.; Pfundt, R.
	2011	Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly	Bon, B.W. van; Hoischen, A.; Hehir-Kwa, J.Y.; Brouwer, A.P. de; Ruivenkamp, C.; Gijsbers, A.C.; Marcelis, C.L.M.; Leeuw, N. de; Veltman, J.A.; Brunner, H.G.; Vries, B.B. de
	2011	A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder	Verhoeven, W.; Egger, J.; Brunner, H.G.; Leeuw, N. de
	2011	A Patient With a De Novo Distal 22q11.2 Microdeletion and Anxiety Disorder	Verhoeven, W.M.A.; Egger, J.I.M.; Brunner, H.G.; Leeuw, N. de
	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	Pierpont syndrome: a collaborative study	Wright, E.M.; Suri, M.; White, S.M.; Leeuw, N. de; Vulto-van Silfhout, A.T.; Stewart, F.; McKee, S.; Mansour, S.; Connell, F.C.; Chopra, M.; Kirk, E.P.; Devriendt, K.; Reardon, W.; Brunner, H.G.; Donnai, D.
	2011	Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions	Willemsen, M.H.; Leeuw, N. de; Mercer, C.; Eisenhauer, H.; Morris, J.; Collinson, M.N.; Barber, J.C.; Lam, S.T.; Lo, I.F.; Rensen, H.; Ferwerda, A.; Hamel, B.C.J.; Kleefstra, T.
	2011	Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis	Feenstra, I.; Hanemaaijer, N.; Sikkema-Raddatz, B.; Yntema, H.G.; Dijkhuizen, T.; Lugtenberg, D.; Verheij, J.; Green, A.; Hordijk, R.; Reardon, W.; Vries, B. de; Brunner, H.G.; Bongers, E.M.; Leeuw, N. de; Ravenswaaij-Arts, C.M.A. van
	2011	The phenotype of recurrent 10q22q23 deletions and duplications	Bon, B.W. van; Balciuniene, J.; Fruhman, G.; Nagamani, S.C.; Broome, D.L.; Cameron, E.; Martinet, D.; Roulet, E.; Jacquemont, S.; Beckmann, J.S.; Irons, M.; Potocki, L.; Lee, B.; Cheung, S.W.; Patel, A.; Bellini, M.; Selicorni, A.; Ciccone, R.; Silengo, M.; Vetro, A.; Knoers, N.V.A.M.; Leeuw, N. de; Pfundt, R.; Wolf, B.; Jira, P.; Aradhya, S.; Stankiewicz, P.; Brunner, H.G.; Zuffardi, O.; Selleck, S.B.; Lupski, J.R.; Vries, B.B. de
	2011	C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome	Arts, H.H.; Bongers, M.H.F.; Mans, D.A.; Beersum, S.E.C. van; Oud, M.M.; Bolat, E.; Spruijt, L.; Cornelissen, E.A.M.; Schuurs-Hoeijmakers, J.H.M.; Leeuw, N. de; Cormier-Daire, V.; Brunner, H.G.; Knoers, N.V.A.M.; Roepman, R.
	2011	Homozygosity mapping in outbred families with mental retardation	Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Pfundt, R.; Bon, B.W.M. van; Leeuw, N. de; Kleefstra, T.; Willemsen, M.A.A.P.; Geurts van Kessel, A.H.M.; Brunner, H.G.; Veltman, J.A.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de; Vries, B.B. de
	2011	Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions	Willemsen, M.H.; Beunders, G.; Callaghan, M.; Leeuw, N. de; Nillesen, W.M.; Yntema, H.G.; Hagen, J.M. van; Nieuwint, A.W.; Morrison, N.; Keijzers-Vloet, S.T.M.; Hoischen, A.; Brunner, H.G.; Tolmie, J.; Kleefstra, T.
	2011	Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Jacquemont, S.; Reymond, A.; Zufferey, F.; Harewood, L.; Walters, R.G.; Kutalik, Z.; Martinet, D.; Shen, Y.; Valsesia, A.; Beckmann, N.D.; Thorleifsson, G.; Belfiore, M.; Bouquillon, S.; Campion, D.; Leeuw, N. de; Vries, B.B. de; Esko, T.; Fernandez, B.A.; Fernandez-Aranda, F.; Fernandez-Real, J.M.; Gratacos, M.; Guilmatre, A.; Hoyer, J.; Jarvelin, M.R.; Kooy, R.F.; Kurg, A.; Caignec, C. Le; Mannik, K.; Platt, O.S.; Sanlaville, D.; Haelst, M.M. van; Villatoro Gomez, S.; Walha, F.; Wu, B.L.; Yu, Y.; Aboura, A.; Addor, M.C.; Alembik, Y.; Antonarakis, S.E.; Arveiler, B.; Barth, M.; Bednarek, N.; Bena, F.; Bergmann, S.; Beri, M.; Bernardini, L.; Blaumeiser, B.; Bonneau, D.; Bottani, A.; Boute, O.; Brunner, H.G.; Cailley, D.; Callier, P.; Chiesa, J.; Chrast, J.; Coin, L.; Coutton, C.; Cuisset, J.M.; Cuvellier, J.C.; David, A.; Freminville, B. de; Delobel, B.; Delrue, M.A.; Demeer, B.; Descamps, D.; Didelot, G.; Dieterich, K.; Disciglio, V.; Doco-Fenzy, M.; Drunat, S.; Duban-Bedu, B.; Dubourg, C.; El-Sayed Moustafa, J.S.; Elliott, P.; Faas, B.H.W.; Faivre, L.; Faudet, A.; Fellmann, F.; Ferrarini, A.; Fisher, R.; Flori, E.; Forer, L.; Gaillard, D.; Gerard, M.; Gieger, C.; Gimelli, S.; Gimelli, G.; Grabe, H.J.; Guichet, A.; Guillin, O.; Hartikainen, A.L.; Heron, D.; Hippolyte, L.; Holder, M.; Homuth, G.; Isidor, B.; Jaillard, S.; Jaros, Z.; Jimenez-Murcia, S.; Helas, G.J.
	2010	Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome.	Ockeloen, C.W.; Leeuw, N. de; Mieloo, H.; Reijnen, I.G.; Vries, L.B.A. de
	2010	Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.	Drijvers, J.M.; Lefeber, D.J.; Munnik, S.A. de; Pfundt, R.; Leeuw, N. de; Marcelis, C.L.M.; Thiel, C.; Koerner, C.; Wevers, R.A.; Morava, E.
	2010	Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.	Pohjola, P.; Leeuw, N. de; Penttinen, M.; Kaariainen, H.
	2010	Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.	Faas, B.H.W.; Burgt, C.J.A.M. van der; Kooper, A.J.A.; Pfundt, R.; Hehir, J.Y.; Smits, A.P.T.; Leeuw, N. de
	2010	UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.	Leeuw, N. de; Bulk, S.; Green, A.; Jaeckle-Santos, L.; Baker, L.A.; Zinn, A.R.; Kleefstra, T.; Smagt, J.J. van der; Vianne Morgante, A.M.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
	2010	Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.	Kleefstra, T.; Leeuw, N. de; Wolf, R.; Nillesen, W.M.; Schobers, G.; Mieloo, H.; Willemsen, M.A.A.P.; Perrotta, C.S.; Poddighe, P.J.; Feenstra, I.; Draaisma, J.M.T.; Ravenswaaij-Arts, C.M.A. van
	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	Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.	Schuurs-Hoeijmakers, J.H.M.; Vermeer, S.; Bon, B.W.M. van; Pfundt, R.P.; Marcelis, C.L.M.; Brouwer, A.P.M. de; Leeuw, N. de; Vries, L.B.A. de
	2009	A healthy, female chimera with 46,XX/46,XY karyotype.	Binkhorst, M.; Leeuw, N. de; Otten, B.J.
	2009	The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.	Buysse, K.; Reardon, W.; Mehta, L.; Costa, T.; Fagerstrom, C.; Kingsbury, D.J.; Anadiotis, G.; McGillivray, B.C.; Hellemans, J.; Leeuw, N. de; Vries, L.B.A. de; Speleman, F.; Menten, B.; Mortier, G.
	2009	Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.	Wieczorek, D.; Gener, B.; Gonzalez, M.J.; Seland, S.; Fischer, S.; Hehr, U.; Kuechler, A.; Hoefsloot, L.H.; Leeuw, N. de; Gillessen-Kaesbach, G.; Lohmann, D.R.
	2009	An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.	Verheij, J.B.; Munnik, S.A. de; Dijkhuizen, T.; Leeuw, N. de; Olde Weghuis, D.E.M.; Hoek, G.J. van den; Rijlaarsdam, R.S.; Thomasse, Y.E.; Dikkers, F.G.; Marcelis, C.L.M.; Ravenswaaij-Arts, C.M.A. van
	2009	Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.	McMullan, D.J.; Bonin, M.; Hehir-Kwa, J.Y.; Vries, L.B.A. de; Dufke, A.; Rattenberry, E.; Steehouwer, M.; Moruz, L.M.; Pfundt, R.P.; Leeuw, N. de; Riess, A.; Altug-Teber, O.; Enders, H.; Singer, S.; Grasshoff, U.; Walter, M.; Walker, J.M.; Lamb, C.V.; Davison, E.V.; Brueton, L.; Riess, O.; Veltman, J.A.
	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	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	Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.	Shahdadpuri, R.; Vries, B. de; Pfundt, R.P.; Leeuw, N. de; Reardon, W.
	2008	Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.	Faas, B.H.W.; Nillesen, W.; Vermeer, S.; Weghuis, D.O.; Leeuw, N. de; Smits, A.P.T.; Ravenswaaij-Arts, C.M.A. van
	2008	Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.	Menko, F.H.; Kneepkens, C.M.; Leeuw, N. de; Peeters, E.A.; Maldergem, L Van; Kamsteeg, E.J.; Davidson, R.; Rozendaal, L.; Lasham, C.A.; Peeters-Scholte, C.M.; Jansweijer, M.C.E.; Hilhorst-Hofstee, Y.; Gille, J.J.P.; Heins, Y.M.; Nieuwint, A.W.; Sistermans, E.A.
	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	Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.	Mefford, H.C.; Sharp, A.J.; Baker, C.; Itsara, A.; Jiang, Z.; Buysse, K.; Huang, S.; Maloney, V.K.; Crolla, J.A.; Baralle, D.; Collins, A.; Mercer, C.; Norga, K.; Ravel, T. de; Devriendt, K.; Bongers, E.M.H.F.; Leeuw, N. de; Reardon, W.; Gimelli, S.; Bena, F.; Hennekam, R.C.M.; Male, A.; Gaunt, L.; Clayton-Smith, J.; Simonic, I.; Park, S.M.; Mehta, S.G.; Nik-Zainal, S.; Woods, C.G.; Firth, H.V.; Parkin, G.; Fichera, M.; Reitano, S.; Giudice, M. Lo; Li, K.E.; Casuga, I.; Broomer, A.; Conrad, B.; Schwerzmann, M.; Raber, L.; Gallati, S.; Striano, P.; Coppola, A.; Tolmie, J.L.; Tobias, E.S.; Lilley, C.; Armengol, L.; Spysschaert, Y.; Verloo, P.; Coene, A. de; Goossens, L.; Mortier, G.; Speleman, F.; Binsbergen, E. van; Nelen, M.R.; Hochstenbach, R.; Poot, M.; Gallagher, L.; Gill, M.; McClellan, J.; King, M.C.; Regan, R.; Skinner, C.; Stevenson, R.E.; Antonarakis, S.E.; Chen, C.; Estivill, X.; Menten, B.; Gimelli, G.; Gribble, S.; Schwartz, S.; Sutcliffe, J.S.; Walsh, T.; Knight, S.J.; Sebat, J.; Romano, C.; Schwartz, C.E.; Veltman, J.A.; Vries, L.B.A. de; Vermeesch, J.R.; Barber, J.C.; Willatt, L.; Tassabehji, M.; Eichler, E.E.

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