Search Results - "van Reijmersdal, Simon"

TRIM28 haploinsufficiency predisposes to Wilms tumor by Diets, Illja J., Hoyer, Juliane, Ekici, Arif B., Popp, Bernt, Hoogerbrugge, Nicoline, Reijmersdal, Simon V., Bhaskaran, Rajith, Hadjihannas, Michel, Vasileiou, Georgia, Thiel, Christian T., Seven, Didem, Uebe, Steffen, Ilencikova, Denisa, Waanders, Esmé, Mavinkurve‐Groothuis, Annelies M.C., Roeleveld, Nel, Krijger, Ronald R., Wegert, Jenny, Graf, Norbert, Vokuhl, Christian, Agaimy, Abbas, Gessler, Manfred, Reis, André, Kuiper, Roland P., Jongmans, Marjolijn C.J., Metzler, Markus

“…Two percent of patients with Wilms tumors have a positive family history. In many of these cases the genetic cause remains unresolved. By applying germline…”
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Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations by Antić, Željko, Yu, Jiangyan, Van Reijmersdal, Simon V, Van Dijk, Anke, Dekker, Linde, Segerink, Wouter H, Sonneveld, Edwin, Fiocco, Marta, Pieters, Rob, Hoogerbrugge, Peter M, Van Leeuwen, Frank N, Van Kessel, Ad Geurts, Waanders, Esme, Kuiper, Roland P

“…Genomic studies of pediatric acute lymphoblastic leukemia (ALL) have shown remarkable heterogeneity in initial diagnosis, with multiple (sub)clones harboring…”
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Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 by Solanich, Xavier, Vargas-Parra, Gardenia, van der Made, Caspar I., Simons, Annet, Schuurs-Hoeijmakers, Janneke, Antolí, Arnau, del Valle, Jesús, Rocamora-Blanch, Gemma, Setién, Fernando, Esteller, Manel, van Reijmersdal, Simon V., Riera-Mestre, Antoni, Sabater-Riera, Joan, Capellá, Gabriel, van de Veerdonk, Frank L., van der Hoven, Ben, Corbella, Xavier, Hoischen, Alexander, Lázaro, Conxi

“…IntroductionLoss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We…”
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study by Hebert, Anne, Simons, Annet, Schuurs-Hoeijmakers, Janneke H M, Koenen, Hans J P M, Zonneveld-Huijssoon, Evelien, Henriet, Stefanie S V, Schatorjé, Ellen J H, Hoppenreijs, Esther P A H, Leenders, Erika K S M, Janssen, Etienne J M, Santen, Gijs W E, de Munnik, Sonja A, van Reijmersdal, Simon V, van Rijssen, Esther, Kersten, Simone, Netea, Mihai G, Smeets, Ruben L, van de Veerdonk, Frank L, Hoischen, Alexander, van der Made, Caspar I

“…variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of…”
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Clonal dynamics in pediatric B‐cell precursor acute lymphoblastic leukemia with very early relapse by Antić, Željko, Yu, Jiangyan, Bornhauser, Beat C., Lelieveld, Stefan H., Ham, Cedric G., Reijmersdal, Simon V., Morgado, Lionel, Elitzur, Sarah, Bourquin, Jean‐Pierre, Cazzaniga, Giovanni, Eckert, Cornelia, Camós, Mireia, Sutton, Rosemary, Cavé, Hélène, Moorman, Anthony V., Sonneveld, Edwin, Geurts van Kessel, Ad, Leeuwen, Frank N., Hoogerbrugge, Peter M., Waanders, Esmé, Kuiper, Roland P.

“…Introduction One‐quarter of the relapses in children with B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) occur very early (within 18 months, before…”
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Diagnostic Genome Profiling in Mental Retardation by de Vries, Bert B.A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E.L.M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H.L.P.G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M.A., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Brunner, Han G., Veltman, Joris A.

“…Mental retardation (MR) occurs in 2%–3% of the general population. Conventional karyotyping has a resolution of 5–10 million bases and detects chromosomal…”
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The origin and nature of tightly clustered BTG1 deletions in precursor B-cell acute lymphoblastic leukemia support a model of multiclonal evolution by Waanders, Esmé, Scheijen, Blanca, van der Meer, Laurens T, van Reijmersdal, Simon V, van Emst, Liesbeth, Kroeze, Yvet, Sonneveld, Edwin, Hoogerbrugge, Peter M, van Kessel, Ad Geurts, van Leeuwen, Frank N, Kuiper, Roland P

“…Recurrent submicroscopic deletions in genes affecting key cellular pathways are a hallmark of pediatric acute lymphoblastic leukemia (ALL). To gain more…”
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Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis by Toonen, Erik J M, Gilissen, Christian, Franke, Barbara, Kievit, Wietske, Eijsbouts, Agnes M, den Broeder, Alfons A, van Reijmersdal, Simon V, Veltman, Joris A, Scheffer, Hans, Radstake, Timothy R D J, van Riel, Piet L C M, Barrera, Pilar, Coenen, Marieke J H

“…So far, there are no means of identifying rheumatoid arthritis (RA) patients who will fail to respond to tumour necrosis factor blocking agents (anti-TNF),…”
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Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia by Smits, Willem K., Vermeulen, Carlo, Hagelaar, Rico, Kimura, Shunsuke, Vroegindeweij, Eric M., Buijs-Gladdines, Jessica G.C.A.M., van de Geer, Ellen, Verstegen, Marjon J.A.M., Splinter, Erik, van Reijmersdal, Simon V., Buijs, Arjan, Galjart, Niels, van Eyndhoven, Winfried, van Min, Max, Kuiper, Roland, Kemmeren, Patrick, Mullighan, Charles G., de Laat, Wouter, Meijerink, Jules P.P.

“…Monoallelic inactivation of CCCTC-binding factor (CTCF) in human cancer drives altered methylated genomic states, altered CTCF occupancy at promoter and…”
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Upfront Treatment Influences the Composition of Genetic Alterations in Relapsed Pediatric B‐Cell Precursor Acute Lymphoblastic Leukemia by Yu, Jiangyan, Waanders, Esmé, Reijmersdal, Simon V., Antić, Željko, Bosbeek, Charlotte M., Sonneveld, Edwin, Groot, Hester, Fiocco, Marta, Kessel, Ad Geurts, Leeuwen, Frank N., Pieters, Rob, Hoogerbrugge, Peter M., Kuiper, Roland P.

“…Supplemental Digital Content is available in the text Genomic alterations in relapsed B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) may provide…”
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Presence of Genetic Variants Among Young Men With Severe COVID-19 by van der Made, Caspar I, Simons, Annet, Schuurs-Hoeijmakers, Janneke, van den Heuvel, Guus, Mantere, Tuomo, Kersten, Simone, van Deuren, Rosanne C, Steehouwer, Marloes, van Reijmersdal, Simon V, Jaeger, Martin, Hofste, Tom, Astuti, Galuh, Corominas Galbany, Jordi, van der Schoot, Vyne, van der Hoeven, Hans, Hagmolen of ten Have, Wanda, Klijn, Eva, van den Meer, Catrien, Fiddelaers, Jeroen, de Mast, Quirijn, Bleeker-Rovers, Chantal P, Joosten, Leo A. B, Yntema, Helger G, Gilissen, Christian, Nelen, Marcel, van der Meer, Jos W. M, Brunner, Han G, Netea, Mihai G, van de Veerdonk, Frank L, Hoischen, Alexander

“…IMPORTANCE: Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly male, patients without preexisting medical conditions. Some…”
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Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization by Hol, Janna A, Kuiper, Roland P, van Dijk, Freerk, Waanders, Esmé, van Peer, Sophie E, Koudijs, Marco J, Bladergroen, Reno, van Reijmersdal, Simon V, Morgado, Lionel M, Bliek, Jet, Lombardi, Maria Paola, Hopman, Saskia, Drost, Jarno, de Krijger, Ronald R, van den Heuvel-Eibrink, Marry M, Jongmans, Marjolijn C J

“…Wilms tumor (WT) is associated with (epi)genetic predisposing factors affecting a growing number of WT predisposing genes and loci, including those causing…”
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Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL by van der Veer, Arian, Waanders, Esmé, Pieters, Rob, Willemse, Marieke E., Van Reijmersdal, Simon V., Russell, Lisa J., Harrison, Christine J., Evans, William E., van der Velden, Vincent H.J., Hoogerbrugge, Peter M., Van Leeuwen, Frank, Escherich, Gabriele, Horstmann, Martin A., Mohammadi Khankahdani, Leila, Rizopoulos, Dimitris, De Groot-Kruseman, Hester A., Sonneveld, Edwin, Kuiper, Roland P., Den Boer, Monique L.

“…Most relapses in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) are not predicted using current prognostic features. Here, we determined the…”
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Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing by Yu, Jiangyan, Antić, Željko, van Reijmersdal, Simon V., Hoischen, Alexander, Sonneveld, Edwin, Waanders, Esmé, Kuiper, Roland P.

“…Pathogenic mutations in relapse-associated genes in pediatric acute lymphoblastic leukemia may improve risk stratification when detected at subclonal levels at…”
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BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia by van Galen, Joost C., Kuiper, Roland P., van Emst, Liesbeth, Levers, Marloes, Tijchon, Esther, Scheijen, Blanca, Waanders, Esmé, van Reijmersdal, Simon V., Gilissen, Christian, van Kessel, Ad Geurts, Hoogerbrugge, Peter M., van Leeuwen, Frank N.

“…Resistance to glucocorticoids (GCs) is a major clinical problem in the treatment of acute lymphoblastic leukemia (ALL), but the underlying mechanisms are not…”
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Gfi1 ubiquitination and proteasomal degradation is inhibited by the ubiquitin ligase Triad1 by Marteijn, Jurgen A.F., van der Meer, Laurens T., van Emst, Liesbeth, van Reijmersdal, Simon, Wissink, Willemijn, de Witte, Theo, Jansen, Joop H., Van der Reijden, Bert A.

“…Growth factor independence 1 (Gfi1) is a transcriptional repressor essential for the function and development of many different hematopoietic lineages. The…”
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A Novel Germline PAX5 Single Exon Deletion in a Paediatric Patient with B-Cell Leukaemia by van Engelen, Nienke, Roest, Merel A., van Dijk, Freerk, Sonneveld, Edwin, Bladergroen, Reno, van Reijmersdal, Simon, van der Velden, Vincent H.J., Hoogeveen, Patricia G., Kors, W.A., Waanders, Esme, Kuiper, Roland P., Jongmans, Marjolijn C.J.

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Elevated Enhancer-Oncogene Contacts and Higher Oncogene Expression Levels By Recurrent CTCF inactivating Mutations in T Cell Acute Lymphoblastic Leukemia by Smits, Willem K., Vermeulen, Carlo, Hagelaar, Rico, Kimura, Shunsuke, Vroegindeweij, Eric, Buijs-Gladdines, Jessica G.C.A.M., Van De Geer, Ellen, Verstegen, Marjon J.A.M., Splinter, Erik, van Reijmersdal, Simon V., Buijs, Arjan, Galjart, Niels, Van Eyndhoven, Winfried, Van Min, Max Jan, Kuiper, Roland P, Kemmeren, Patrick, Mullighan, Charles G., De Laat, Wouter, Meijerink, Jules P.P.

“…Introduction. The CCCTC-binding factor (CTCF) regulates the 3D chromatin architecture by facilitating chromosomal loops and forming the boundaries of…”
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Accurate Detection of Low Mosaic Mutations Associated with Therapy Resistance in Pediatric Acute Lymphoblastic Leukemia Using Single Molecule Tagging and Deep-Sequencing by Yu, Jiangyan, van Reijmersdal, Simon V., Hoischen, Alexander, Sonneveld, Edwin, Hoogerbrugge, Peter M., Waanders, Esmé, Kuiper, Roland P.

“…Introduction: Recent work has demonstrated that relapses in pediatric acute lymphoblastic leukemia (ALL) can arise from minor subclones present at diagnosis…”
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Genomic Architecture and Clonal Dynamics of Early Relapsed BCP-ALL by Antic, Zeljko, Yu, Jiangyan, van Reijmersdal, Simon V., Kuiper, Renske, Sonneveld, Edwin, van Leeuwen, Frank N., Hoogerbrugge, Peter M., Waanders, Esmé, Kuiper, Roland P.

“…Relapse represents the most common cause of therapy failure in B-cell precursor ALL acute lymphoblastic leukemia (BCP-ALL), and is caused by selective…”
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