Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability von de Ligt, Joep, Willemsen, Marjolein H, van Bon, Bregje W.M, Kleefstra, Tjitske, Yntema, Helger G, Kroes, Thessa, Vulto-van Silfhout, Anneke T, Koolen, David A, de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, de Vries, Bert B.A, Brunner, Han G, Veltman, Joris A, Vissers, Lisenka E.L.M

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A de novo paradigm for mental retardation von Vissers, Lisenka E L M, de Ligt, Joep, Gilissen, Christian, Janssen, Irene, Steehouwer, Marloes, de Vries, Petra, van Lier, Bart, Arts, Peer, Wieskamp, Nienke, del Rosario, Marisol, van Bon, Bregje W M, Hoischen, Alexander, de Vries, Bert B A, Brunner, Han G, Veltman, Joris A

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Seeking a Better Balance Between Efficiency and Interpretability: Comparing the Likert Response Format With the Guttman Response Format von Wilson, Mark, Bathia, Shruti, Morell, Linda, Gochyyev, Perman, Koo, Bon W., Smith, Rebecca

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome von Hoischen, Alexander, van Bon, Bregje W M, Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z, Revencu, Nicole, Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M, Thompson, Elizabeth M, Brunner, Han G, de Vries, Bert B A, Veltman, Joris A

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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy von McMichael, G, Bainbridge, M N, Haan, E, Corbett, M, Gardner, A, Thompson, S, van Bon, B W M, van Eyk, C L, Broadbent, J, Reynolds, C, O'Callaghan, M E, Nguyen, L S, Adelson, D L, Russo, R, Jhangiani, S, Doddapaneni, H, Muzny, D M, Gibbs, R A, Gecz, J, MacLennan, A H

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Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene von Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.

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Cantú Syndrome Is Caused by Mutations in ABCC9 von van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander

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Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments von Morison, Lottie D, Braden, Ruth O, Amor, David J, Brignell, Amanda, van Bon, Bregje W M, Morgan, Angela T

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Speech and language deficits are central to SETBP1 haploinsufficiency disorder von Morgan, Angela, Braden, Ruth, Wong, Maggie M K, Colin, Estelle, Amor, David, Liégeois, Frederique, Srivastava, Siddharth, Vogel, Adam, Bizaoui, Varoona, Ranguin, Kara, Fisher, Simon E, van Bon, Bregje W

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID von van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function von Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, Woerden, Geeske M.

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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects von Willemsen, Marjolein H, Vissers, Lisenka E L, Willemsen, Michèl A A P, van Bon, Bregje W M, Kroes, Thessa, de Ligt, Joep, de Vries, Bert B, Schoots, Jeroen, Lugtenberg, Dorien, Hamel, Ben C J, van Bokhoven, Hans, Brunner, Han G, Veltman, Joris A, Kleefstra, Tjitske

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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations von Woerden, Geeske M., Senden, Richelle, Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., Bever, Yolande, Bird, Lynne M., Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, Wessels, Marja W., Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet

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Clinical delineation of SETBP1 haploinsufficiency disorder von Jansen, Nadieh A, Braden, Ruth O, Srivastava, Siddharth, Otness, Erin F, Lesca, Gaetan, Rossi, Massimiliano, Nizon, Mathilde, Bernier, Raphael A, Quelin, Chloé, van Haeringen, Arie, Kleefstra, Tjitske, Wong, Maggie M K, Whalen, Sandra, Fisher, Simon E, Morgan, Angela T, van Bon, Bregje W

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Monogenic and chromosomal causes of isolated speech and language impairment von Barnett, C P, van Bon, B W M

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies von Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A, van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B, Destree, Anne, Smigiel, Robert, Lambie, Lindsday A, Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G, Mihci, Ercan, Moreira, Lilia M A, Borges Ferreira, Viviane, Horovitz, Dafne D G, da Rocha, Katia M, Jezela-Stanek, Aleksandra, Brooks, Alice S, Reutter, Heiko, Cohen, Julie S, Fatemi, Ali, Smitka, Martin, Grebe, Theresa A, Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A, De Vries, Bert B A, Schinzel, Albert, Fisher, Simon E, Hoischen, Alexander, van Bon, Bregje W

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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations von Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje W M, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa L E, Smeets, Eric E J, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine E L, Kleefstra, Tjitske

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Programming of glucose-insulin metabolism in adult sheep after maternal undernutrition von Gardner, D. S, Tingey, K, Van Bon, B. W. M, Ozanne, S. E, Wilson, V, Dandrea, J, Keisler, D. H, Stephenson, T, Symonds, M. E

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Addressing Sustainability in the High School Biology Classroom through Socioscientific Issues von Jackson, Wendy M, Binding, Maia K, Grindstaff, Kelly, Hariani, Manisha, Koo, Bon W

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Clinical Significance of De Novo and Inherited Copy-Number Variation von Vulto-van Silfhout, Anneke T., Hehir-Kwa, Jayne Y., van Bon, Bregje W.M., Schuurs-Hoeijmakers, Janneke H.M., Meader, Stephen, Hellebrekers, Claudia J.M., Thoonen, Ilse J.M., de Brouwer, Arjan P.M., Brunner, Han G., Webber, Caleb, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B.A.

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