Search Results - "VAN BON, Bregje W. M"

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability by 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

“…In this study, exome sequencing yielded a genetic diagnosis in 16% of patients who had previously been evaluated to rule out known causes of intellectual…”
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome by 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

“…Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected…”
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Cantú Syndrome Is Caused by Mutations in ABCC9 by 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

“…Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an…”
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A de novo paradigm for mental retardation by 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

“…The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common…”
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Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments by Morison, Lottie D, Braden, Ruth O, Amor, David J, Brignell, Amanda, van Bon, Bregje W M, Morgan, Angela T

“…Speech and language impairments are commonly reported in DYRK1A syndrome. Yet, speech and language abilities have not been systematically examined in a…”
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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects by 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

“…DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor protein complex that plays a key role in retrograde axonal transport in neurons…”
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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems by 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

“…Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental…”
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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder by 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

“…Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including…”
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures by 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

“…Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies,…”
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome by 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

“…Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the…”
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The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype by 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

“…Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have…”
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CEP89 is required for mitochondrial metabolism and neuronal function in man and fly by 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

“…It is estimated that the human mitochondrial proteome consists of 1000-1500 distinct proteins. The majority of these support the various biochemical pathways…”
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Genome sequencing identifies major causes of severe intellectual disability by 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.

“…Whole-genome sequencing is used to identify genetic alterations in patients with severe intellectual disability for whom all other tests, including array and…”
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Refining analyses of copy number variation identifies specific genes associated with developmental delay by 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

“…Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate…”
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Mutations in TPM2 and congenital fibre type disproportion by 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

“…Abstract The main diagnostic feature of congenital fibre type disproportion is that type 1 fibres are consistently smaller than type 2 fibres in the absence of…”
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction by 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.

“…Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and…”
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome by 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.

“…Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal…”
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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion by 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.

“…Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we…”
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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome by 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.

“…Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and…”
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations by 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

“…Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural,…”
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