Search Results - "Vandeweyer, Geert"

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease by Annear, Dale J., Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E., Raymond, Lucy, Kooy, R. Frank

“…Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative disorders, including the fragile X syndrome and fragile X-associated…”
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Osmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF‐mediated auxin responses by Kalve, Shweta, Sizani, Bulelani L., Markakis, Marios Nektarios, Helsmoortel, Céline, Vandeweyer, Geert, Laukens, Kris, Sommen, Manou, Naulaerts, Stefan, Vissenberg, Kris, Prinsen, Els, Beemster, Gerrit T. S.

“…Summary We investigated the interaction between osmotic stress and auxin signaling in leaf growth regulation. Therefore, we grew Arabidopsis thaliana seedlings…”
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The roles of patient groups in fostering cancer research by Hennink, Merel, Vandeweyer, Geert, Freeman-Daily, Janet

“…As more patients with oncogene-driven non-small-cell lung cancer are treated with targeted therapies, they are joining forces online to form groups that…”
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CRISPR/Cas9-edited ROS1 + non-small cell lung cancer cell lines highlight differential drug sensitivity in 2D vs 3D cultures while reflecting established resistance profiles by Terrones, Marc, Deben, Christophe, Rodrigues-Fortes, Felicia, Schepers, Anne, de Beeck, Ken Op, Van Camp, Guy, Vandeweyer, Geert

“…The study of resistance-causing mutations in oncogene-driven tumors is fundamental to guide clinical decisions. Several point mutations affecting the ROS1…”
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Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes by Proost, Dorien, Vandeweyer, Geert, Meester, Josephina A.N., Salemink, Simone, Kempers, Marlies, Ingram, Christie, Peeters, Nils, Saenen, Johan, Vrints, Christiaan, Lacro, Ronald V., Roden, Dan, Wuyts, Wim, Dietz, Harry C., Mortier, Geert, Loeys, Bart L., Van Laer, Lut

“…ABSTRACT At least 14 causative genes have been identified for both syndromic and nonsyndromic forms of thoracic aortic aneurysm/dissection (TAA), an important…”
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Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1 by Vandamme, Timon, Peeters, Marc, Dogan, Fadime, Pauwels, Patrick, Van Assche, Elvire, Beyens, Matthias, Mortier, Geert, Vandeweyer, Geert, de Herder, Wouter, Van Camp, Guy, Hofland, Leo J, Op de Beeck, Ken

“…The human BON-1 and QGP-1 cell lines are two frequently used models in pancreatic neuroendocrine tumor (PNET) research. Data on the whole-exome genetic…”
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Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes by Fransen, Erik, Valgaeren, Hanne, Janssens, Katleen, Sommen, Manou, De Ridder, Raphael, Vandeweyer, Geert, Bisceglia, Luigi, Soler, Vincent, Hoischen, Alexander, Mortier, Geert, Malecaze, François, Koppen, Carina, Van Camp, Guy

“…The involvement of genetic factors in the pathogenesis of KC has long been recognized but the identification of variants affecting the underlying protein…”
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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections by Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.

“…Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far,…”
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy by Ajit Bolar, Nikhita, Vanlander, Arnaud Vincent, Wilbrecht, Claudia, Van der Aa, Nathalie, Smet, Joél, De Paepe, Boel, Vandeweyer, Geert, Kooy, Frank, Eyskens, François, De Latter, Elien, Delanghe, Gwenda, Govaert, Paul, Leroy, Jules Gerard, Loeys, Bart, Lill, Roland, Van Laer, Lut, Van Coster, Rudy

“…Two siblings from consanguineous parents died perinatally with a condition characterized by generalized hypotonia, respiratory insufficiency, arthrogryposis,…”
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Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy by Luyckx, Ilse, MacCarrick, Gretchen, Kempers, Marlies, Meester, Josephina, Geryl, Céline, Rombouts, Olivier, Peeters, Nils, Claes, Charlotte, Boeckx, Nele, Sakalihasan, Natzi, Jacquinet, Adeline, Hoischen, Alexander, Vandeweyer, Geert, Van Lent, Sarah, Saenen, Johan, Van Craenenbroeck, Emeline, Timmermans, Janneke, Duijnhouwer, Anthonie, Dietz, Harry, Van Laer, Lut, Loeys, Bart, Verstraeten, Aline

“…Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic dissections…”
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CNV-WebStore: online CNV analysis, storage and interpretation by Vandeweyer, Geert, Reyniers, Edwin, Wuyts, Wim, Rooms, Liesbeth, Kooy, R Frank

“…Microarray technology allows the analysis of genomic aberrations at an ever increasing resolution, making functional interpretation of these vast amounts of…”
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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort by Meester, Josephina A.N., Sukalo, Maja, Schröder, Kim C., Schanze, Denny, Baynam, Gareth, Borck, Guntram, Bramswig, Nuria C., Duman, Duygu, Gilbert‐Dussardier, Brigitte, Holder‐Espinasse, Muriel, Itin, Peter, Johnson, Diana S., Joss, Shelagh, Koillinen, Hannele, McKenzie, Fiona, Morton, Jenny, Nelle, Heike, Reardon, Willie, Roll, Claudia, Salih, Mustafa A., Savarirayan, Ravi, Scurr, Ingrid, Splitt, Miranda, Thompson, Elizabeth, Titheradge, Hannah, Travers, Colm P., Maldergem, Lionel, Whiteford, Margo, Wieczorek, Dagmar, Vandeweyer, Geert, Trembath, Richard, Laer, Lut, Loeys, Bart L., Zenker, Martin, Southgate, Laura, Wuyts, Wim

“…Adams–Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD)…”
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A Panel-Based Sequencing Analysis of Patients with Paget’s Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus by De Ridder, Raphaël, Vandeweyer, Geert, Boudin, Eveline, Hendrickx, Gretl, Huybrechts, Yentl, Cremers, Tycho Canter, Devogelaer, Jean-Pierre, Mortier, Geert, Fransen, Erik, Van Hul, Wim

“…Paget’s disease of bone (PDB) is a common bone disorder characterized by focal lesions caused by increased bone turnover. Monogenic forms of PDB and…”
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pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data by Beyens, Matthias, Boeckx, Nele, Van Camp, Guy, Op de Beeck, Ken, Vandeweyer, Geert

“…Haloplex targeted resequencing is a popular method to analyze both germline and somatic variants in gene panels. However, involved wet-lab procedures may…”
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Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders by van der Werf, Ilse M, Jansen, Sandra, de Vries, Petra F, Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B A, Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E L M, Kooy, R Frank, Vandeweyer, Geert

“…Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of…”
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The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome by Vandeweyer, Geert, Van der Aa, Nathalie, Reyniers, Edwin, Kooy, R. Frank

“…Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities,…”
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A Case-Control Study Supports Genetic Contribution of the PON Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease by Van Dijck, Evelien, Diels, Sara, Fransen, Erik, Cremers, Tycho Canter, Verrijken, An, Dirinck, Eveline, Hoischen, Alexander, Vandeweyer, Geert, Vanden Berghe, Wim, Van Gaal, Luc, Francque, Sven, Van Hul, Wim

“…The paraoxonase ( ) gene family (including PON1, PON2, and PON3), is known for its anti-oxidative and anti-inflammatory properties, protecting against…”
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A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples by van der Werf, Ilse M, Kooy, R Frank, Vandeweyer, Geert

“…Contemporary genetic studies frequently involve sequencing of a targeted gene panel, for instance consisting of a set of genes associated with a specific…”
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FRA2A is a CGG repeat expansion associated with silencing of AFF3 by Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S, Bengani, Hemant, Wilson, David I, Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, Fitzpatrick, David R, Kooy, R Frank

“…Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are…”
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Balanced translocations in mental retardation by Vandeweyer, Geert, Kooy, R. Frank

“…Over the past few decades, the knowledge on genetic defects causing mental retardation has dramatically increased. In this review, we discuss the importance of…”
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