Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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
Published in The New England journal of medicine (15.11.2012)
Published in The New England journal of medicine (15.11.2012)
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Veltman, Joris A, 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
Published in Nature genetics (01.06.2010)
Published in Nature genetics (01.06.2010)
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Cantú Syndrome Is Caused by Mutations in ABCC9
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
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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A de novo paradigm for mental retardation
Brunner, Han G, Veltman, Joris A, 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
Published in Nature genetics (01.12.2010)
Published in Nature genetics (01.12.2010)
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Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
Morison, Lottie D, Braden, Ruth O, Amor, David J, Brignell, Amanda, van Bon, Bregje W M, Morgan, Angela T
Published in European journal of human genetics : EJHG (01.07.2022)
Published in European journal of human genetics : EJHG (01.07.2022)
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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
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
Published in Journal of medical genetics (01.03.2012)
Published in Journal of medical genetics (01.03.2012)
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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Kumar, Raman, Corbett, Mark A, Van Bon, Bregje W M, Gardner, Alison, Woenig, Joshua A, Jolly, Lachlan A, Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A, Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I, Haas, Stefan A, Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M, Haan, Eric, Kalscheuer, Vera M, Gecz, Jozef
Published in Human molecular genetics (20.12.2015)
Published in Human molecular genetics (20.12.2015)
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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Thierry, Gaelle, Bénéteau, Claire, Pichon, Olivier, Flori, Elisabeth, Isidor, Bertrand, Popelard, Françoise, Delrue, Marie-Ange, Duboscq-Bidot, Laetitia, Thuresson, Ann-Charlotte, van Bon, Bregje W.M., Cailley, Dorothée, Rooryck, Caroline, Paubel, Agathe, Metay, Corinne, Dusser, Anne, Pasquier, Laurent, Béri, Mylène, Bonnet, Céline, Jaillard, Sylvie, Dubourg, Christèle, Tou, Bassim, Quéré, Marie-Pierre, Soussi-Zander, Cecilia, Toutain, Annick, Lacombe, Didier, Arveiler, Benoit, de Vries, Bert B.A., Jonveaux, Philippe, David, Albert, Le Caignec, Cédric
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Brunner, Han G, Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjaergaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, de Vries, Bert B B A
Published in Nature genetics (01.08.2011)
Published in Nature genetics (01.08.2011)
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The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
VAN BON, Bregje W. M, KOOLEN, David A, DALLA BERNARDINA, Bernardo, ZOCCANTE, Leonardo, BALOTTIN, Umberto, PIAZZA, Fausta, PECILE, Vanna, GASPARINI, Paolo, GUERCI, Veronica, KETS, Marleen, PFUNDT, Rolph, DE BROUWER, Arjan P, BRUETON, Louise, VELTMAN, Joris A, DE LEEUW, Nicole, WILSON, Meredith, ANTONY, Jayne, REITANO, Santina, LUCIANO, Daniela, FICHERA, Marco, ROMAN, Corrado, BRUNNER, Han G, ZUFFARDI, Orsetta, MCMULLAN, Dominic, DE VRIES, Bert B. A, LICHTENBELT, Klaske D, ADES, Lesley C, PETERS, Gregory, GIBSON, Kate, NOVARA, Francesca, PRAMPARO, Tiziano
Published in European journal of human genetics : EJHG (01.02.2010)
Published in European journal of human genetics : EJHG (01.02.2010)
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CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
van Bon, Bregje W M, Oortveld, Merel A W, Nijtmans, Leo G, Fenckova, Michaela, Nijhof, Bonnie, Besseling, Judith, Vos, Melissa, Kramer, Jamie M, de Leeuw, Nicole, Castells-Nobau, Anna, Asztalos, Lenke, Viragh, Erika, Ruiter, Mariken, Hofmann, Falko, Eshuis, Lillian, Collavin, Licio, Huynen, Martijn A, Asztalos, Zoltan, Verstreken, Patrik, Rodenburg, Richard J, Smeitink, Jan A, de Vries, Bert B A, Schenck, Annette
Published in Human molecular genetics (01.08.2013)
Published in Human molecular genetics (01.08.2013)
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Genome sequencing identifies major causes of severe intellectual disability
Gilissen, Christian, Hehir-Kwa, Jayne Y., Thung, Djie Tjwan, van de Vorst, Maartje, van Bon, Bregje W. M., Willemsen, Marjolein H., Kwint, Michael, Janssen, Irene M., Hoischen, Alexander, Schenck, Annette, Leach, Richard, Klein, Robert, Tearle, Rick, Bo, Tan, Pfundt, Rolph, Yntema, Helger G., de Vries, Bert B. A., Kleefstra, Tjitske, Brunner, Han G., Vissers, Lisenka E. L. M., Veltman, Joris A.
Published in Nature (London) (17.07.2014)
Published in Nature (London) (17.07.2014)
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Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-Hoeijmakers, Janneke H, Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L, Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J, Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R F, Torchia, Beth S, Peeters, Hilde, Thompson, Elizabeth, O'Roak, Brian J, Fichera, Marco, Hehir-Kwa, Jayne Y, Shendure, Jay, Mefford, Heather C, Haan, Eric, Gécz, Jozef, de Vries, Bert B A, Romano, Corrado, Eichler, Evan E
Published in Nature genetics (01.10.2014)
Published in Nature genetics (01.10.2014)
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Mutations in TPM2 and congenital fibre type disproportion
Clarke, Nigel F, Waddell, Leigh B, Sie, Lilian T.L, van Bon, Bregje W.M, McLean, Catriona, Clark, Damian, Kornberg, Andrew, Lammens, Martin, North, Kathryn N
Published in Neuromuscular disorders : NMD (01.11.2012)
Published in Neuromuscular disorders : NMD (01.11.2012)
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
Mundhofir, Farmaditya E.P., Smeets, Dominique, Nillesen, Willy, Winarni, Tri Indah, Yntema, Helger G., de Leeuw, Nicole, Hamel, Ben C.J., Faradz, Sultana M.H., van Bon, Bregje W.M.
Published in Gene (15.12.2012)
Published in Gene (15.12.2012)
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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
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
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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