Search Results - "de Vries Bert B A"

The Genetics of Intellectual Disability by Jansen, Sandra, Vissers, Lisenka E L M, de Vries, Bert B A

“…Intellectual disability (ID) has a prevalence of ~2-3% in the general population, having a large societal impact. The underlying cause of ID is largely of…”
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SOD1 is a synthetic-lethal target in PPM1D -mutant leukemia cells by Zhang, Linda, Hsu, Joanne I, Braekeleer, Etienne D, Chen, Chun-Wei, Patel, Tajhal D, Martell, Alejandra G, Guzman, Anna G, Wohlan, Katharina, Waldvogel, Sarah M, Uryu, Hidetaka, Tovy, Ayala, Callen, Elsa, Murdaugh, Rebecca L, Richard, Rosemary, Jansen, Sandra, Vissers, Lisenka, de Vries, Bert B A, Nussenzweig, Andre, Huang, Shixia, Coarfa, Cristian, Anastas, Jamie, Takahashi, Koichi, Vassiliou, George, Goodell, Margaret A

“…The DNA damage response is critical for maintaining genome integrity and is commonly disrupted in the development of cancer. PPM1D (protein phosphatase Mg /Mn…”
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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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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome by Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans

“…A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental…”
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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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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability by Lelieveld, Stefan H, Reijnders, Margot R F, Pfundt, Rolph, Yntema, Helger G, Kamsteeg, Erik-Jan, de Vries, Petra, de Vries, Bert B A, Willemsen, Marjolein H, Kleefstra, Tjitske, Löhner, Katharina, Vreeburg, Maaike, Stevens, Servi J C, van der Burgt, Ineke, Bongers, Ernie M H F, Stegmann, Alexander P A, Rump, Patrick, Rinne, Tuula, Nelen, Marcel R, Veltman, Joris A, Vissers, Lisenka E L M, Brunner, Han G, Gilissen, Christian

“…The authors analyzed the exome sequences of 2,104 intellectual disability patients and their parents. They identified 10 novel candidate genes associated with…”
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome by Veltman, Joris A, Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, van Kessel, Ad Geurts

“…CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping…”
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture by Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel

“…Genomic copy number variation (CNV) plays a major role in various human diseases as well as in normal phenotypic variability. For some recurrent…”
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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders by van der Sanden, Bart P G H, Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A, Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T R M, Kleefstra, Tjitske, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P, Stevens, Servi J, van den Wijngaard, Arthur, Brunner, Han G, Yntema, Helger G, Gilissen, Christian, Nelen, Marcel R, Vissers, Lisenka E L M

“…Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better…”
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Characterization of a recurrent 15q24 microdeletion syndrome by Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, Coppola, Antonietta, Regan, Regina, Price, Sue M., Knoers, Nine V., Eis, Peggy S., Brunner, Han G., Hennekam, Raoul C., Knight, Samantha J.L., de Vries, Bert B.A., Zuffardi, Orsetta, Eichler, Evan E.

“…We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution…”
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Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature by St John, Miya, van Reyk, Olivia, Koolen, David A, de Vries, Bert B A, Amor, David J, Morgan, Angela T

“…Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here we define speech, language,…”
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome by D'Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J, Alders, Mariëlle, Dingemans, Alexander J M, Mateiu, Ligia, de Vries, Bert B A, Vanden Berghe, Wim, Kooy, R Frank

“…Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the…”
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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function by Gómez-Herreros, Fernando, Schuurs-Hoeijmakers, Janneke H M, McCormack, Mark, Greally, Marie T, Rulten, Stuart, Romero-Granados, Rocío, Counihan, Timothy J, Chaila, Elijah, Conroy, Judith, Ennis, Sean, Delanty, Norman, Cortés-Ledesma, Felipe, de Brouwer, Arjan P M, Cavalleri, Gianpiero L, El-Khamisy, Sherif F, de Vries, Bert B A, Caldecott, Keith W

“…Keith Caldecott, Bert de Vries, Sherif El-Khamisy, Gianpiero Cavalleri and colleagues identify homozygous TDP2 mutations in individuals with intellectual…”
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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells by Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna

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Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals by Dingemans, Alexander J. M., Jansen, Sandra, van Reeuwijk, Jeroen, de Leeuw, Nicole, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke, van Bon, Bregje W., Marcelis, Carlo, Ockeloen, Charlotte W., Willemsen, Marjolein, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Vissers, Lisenka E. L. M., de Vries, Bert B. A.

“…The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDDs) is not well understood, yet these are important for accurate diagnosis…”
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype by Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M.A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B.A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Õunap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, Rauch, Anita

“…Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype,…”
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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells by Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Khadri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna

“…Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic…”
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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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Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2 by Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N, Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D, de Vries, Bert B A, Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco

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