Search Results - "Vries, Bert"

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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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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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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Renewable energy sources: Their global potential for the first-half of the 21st century at a global level: An integrated approach by de Vries, Bert J.M., van Vuuren, Detlef P., Hoogwijk, Monique M.

“…The risk of human-induced climate change and the volatility of world oil markets make non-fossil fuel options important. This paper investigates the potential…”
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development by Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.

“…Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that…”
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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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The Human Phenotype Ontology in 2017 by Köhler, Sebastian, Vasilevsky, Nicole A, Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M, Boerkoel, Cornelius F, Boycott, Kym M, Brudno, Michael, Buske, Orion J, Chinnery, Patrick F, Cipriani, Valentina, Connell, Laureen E, Dawkins, Hugh J S, DeMare, Laura E, Devereau, Andrew D, de Vries, Bert B A, Firth, Helen V, Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A, James, Roger, Krause, Roland, F Laulederkind, Stanley J, Lochmüller, Hanns, Lyon, Gholson J, Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H, Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H, Segal, Michael, Sergouniotis, Panagiotis I, Sever, Richard, Smith, Cynthia L, Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W M, Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O B, Groza, Tudor, Smedley, Damian, Mungall, Christopher J, Haendel, Melissa, Robinson, Peter N

“…Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are…”
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Model projections for household energy use in India by van Ruijven, Bas J., van Vuuren, Detlef P., de Vries, Bert J.M., Isaac, Morna, van der Sluijs, Jeroen P., Lucas, Paul L., Balachandra, P.

“…Energy use in developing countries is heterogeneous across households. Present day global energy models are mostly too aggregate to account for this…”
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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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Treatment of 95 post-Covid patients with SSRIs by Rus, Carla P., de Vries, Bert E. K., de Vries, Ingmar E. J., Nutma, Idelette, Kooij, J. J. Sandra

“…After Covid-19 infection, 12.5% develops post-Covid-syndrome (PCS). Symptoms indicate numerous affected organ systems. After a year, chronic fatigue,…”
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Conceptualizing sustainable development: An assessment methodology connecting values, knowledge, worldviews and scenarios by Petersen, Arthur C, de Vries, Bert J.M

“…Sustainability science poses severe challenges to classical disciplinary science. To bring the perspectives of diverse disciplines together in a meaningful…”
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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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Genomic microarrays in mental retardation: A practical workflow for diagnostic applications by Koolen, David A, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne Y, Nillesen, Willy M, Neefs, Ineke, Scheltinga, Ine, Sistermans, Erik, Smeets, Dominique, Brunner, Han G, van Kessel, Ad Geurts, Veltman, Joris A, de Vries, Bert B.A

“…Microarray-based copy number analysis has found its way into routine clinical practice, predominantly for the diagnosis of patients with unexplained mental…”
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Clinical Significance of De Novo and Inherited Copy-Number Variation by 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.

“…ABSTRACT Copy‐number variations (CNVs) are a common cause of intellectual disability and/or multiple congenital anomalies (ID/MCA). However, the clinical…”
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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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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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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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Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders by Linda, Katrin, Lewerissa, Elly I., Verboven, Anouk H. A., Gabriele, Michele, Frega, Monica, Klein Gunnewiek, Teun M., Devilee, Lynn, Ulferts, Edda, Hommersom, Marina, Oudakker, Astrid, Schoenmaker, Chantal, van Bokhoven, Hans, Schubert, Dirk, Testa, Giuseppe, Koolen, David A., de Vries, Bert B.A., Nadif Kasri, Nael

“…Macroautophagy (hereafter referred to as autophagy) is a finely tuned process of programmed degradation and recycling of proteins and cellular components,…”
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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function by Ba, Wei, Yan, Yan, Reijnders, Margot R F, Schuurs-Hoeijmakers, Janneke H M, Feenstra, Ilse, Bongers, Ernie M H F, Bosch, Daniëlle G M, De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Mefford, Heather C, Eichler, Evan E, Vissers, Lisenka E L M, Nadif Kasri, Nael, De Vries, Bert B A

“…Recently, we marked TRIO for the first time as a candidate gene for intellectual disability (ID). Across diverse vertebrate species, TRIO is a well-conserved…”
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