A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype by Verhoeven WMA, Egger JIM, Mergler S, Meijer TAA, Pfundt R, Willemsen MH

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Birth, death or fixation of human segmental duplications by Nguyen, D, Webber, C, Hehir-Kwa, J, Pfundt, R, Veltman, J, Ponting, C

Reduced purifying selection prevails over positive selection in human copy number variant evolution. by Nguyen, D, Webber, C, Hehir-Kwa, J, Pfundt, R, Veltman, J, Ponting, C

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely... by Verhoeven W, Zuijdam J, Scheick A, van Nieuwenhuijsen F, Zwemer AS, Pfundt R, Egger J

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A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability by Verhoeven WMA, Egger JIM, Jongbloed RE, Meijer van Putten M, de Bruin-van Zandwijk M, Zwemer AS, Pfundt R, Willemsen MH

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Accurate distinction of pathogenic from benign CNVs in mental retardation. by Hehir-Kwa, J, Wieskamp, N, Webber, C, Pfundt, R, Brunner, H, Gilissen, C, de Vries, B, Ponting, C, Veltman, J

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice? by Van de Kerkhof NW, Feenstra I, van der Heijden FM,  De Leeuw N, Pfundt R, Stöber G, Egger JI, Verhoeven WM

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From Copy Number Identification to Copy Number Interpretation and back again by Hehir-Kwa, J, Pfundt, R, de Ligt, J, Webber, C, Verwiel, E, del Rosario, M, Wieskamp, N, de Leeuw, N, Brunner, H, Ponting, C, Veltman, J

Clinical significance of de novo and inherited copy-number variation. by Vulto-van Silfhout, A, Hehir-Kwa, J, van Bon, B, Schuurs-Hoeijmakers, J, Meader, S, Hellebrekers, C, Thoonen, I, de Brouwer, A, Brunner, H, Webber, C, Pfundt, R, de Leeuw, N, de Vries, B

Clinical Significance of De Novo and Inherited Copy-Number Variation by Vulto-van Silfhout, A, Hehir-Kwa, J, van Bon, B, Schuurs-Hoeijmakers, J, Meader, S, Hellebrekers, C, Thoonen, I, de Brouwer, A, Brunner, H, Webber, C, Pfundt, R, de Leeuw, N, De Vries, B

Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia by Goos, J, Swagemakers, S, Twigg, S, van Dooren, M, Hoogeboom, A, Beetz, C, Günther, S, Magielsen, F, Ockeloen, C, Ramos-Arroyo, M, Pfundt, R, Yntema, H, van der Spek, P, Stanier, P, Wieczorek, D, Wilkie, A, van den Ouweland, A, Mathijssen, I, Hurst, J

RAC1 missense mutations in developmental disorders with diverse phenotypes by Reijnders, MRF, Ansor, NM, Kousi, M, Yue, WW, Tan, PL, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, JR, Lam, WWK, Mancini, GMS, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chitayat, D, Millard, TH, Katsanis, N, Brunner, HG, Banka, S

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. by Koolen, D, Vissers, L, Pfundt, R, de Leeuw, N, Knight, S, Regan, R, Kooy, R, Reyniers, E, Romano, C, Fichera, M, Schinzel, A, Baumer, A, Anderlid, B, Schoumans, J, Knoers, N, van Kessel, A, Sistermans, E, Veltman, J, Brunner, H, de Vries, B

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome by Menke, LA, Gardeitchik, T, Hammond, P, Heimdal, KR, Houge, G, Hufnagel, SB, Ji, J, Johansson, S, Kant, SG, Kinning, E, Leon, EL, Newbury-Ecob, R, Paolacci, S, Pfundt, R, Ragge, NK, Rinne, T, Ruivenkamp, C, Saitta, SC, Sun, Y, Tartaglia, M, Terhal, PA, van Essen, AJ, Vigeland, MD, Xiao, B, Hennekam, RC

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. by Koolen, D, Sharp, A, Hurst, J, Firth, H, Knight, S, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L, Destrée, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bell, K, Nowaczyk, M, Mancini, G, Poddighe, P, Schwartz, C, Rossi, E, De Gregori, M, Antonacci-Fulton, L, McLellan, MD, Garrett, J

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome by Koolen, D, Sharp, A, Hurst, J, Firth, H, Knight, S, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L, Destree, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bell, K, Nowaczyk, M, Mancini, G, Poddighe, P, Schwartz, C, Rossi, E, De Gregori, M, Antonacci-Fulton, L, Ii, M, Garrett, J

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome by van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. by van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients by Moortgat, S, Berland, S, Maystadt, I, Baker, I, Wilkie, A, Benoit, V, Caro-Llopis, A, Cooper, N, Debray, F, Faivre, L, Gardeitchik, T, Haukanes, B, Houge, G, Kivuva, E, Martinez, F, Mehta, S, Nassogne, M, Powell-Hamilton, N, Pfundt, R, Rosello, M, Prescott, T, Vasudevan, P, van Loon, B, Verellen-Dumoulin, C, Verloes, A, von der Lippe, C, Wakeling, E, Wilson, L, Yuen, A, Low, K, Newbury-Ecob, R

De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia by Haijes, H, Koster, M, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G, Lehman, A, Van De Laar, I, Tesselaar, C, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A, Kini, U, Vos, H, Van Es, R, Van Schaik, R, Van Essen, T, Kibaek, M, Taylor, J, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D, Van Gassen, K, Pfundt, R, Falk, M, McCormick, E, Timmers, H, Van Hasselt, P