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Annet Simons
Researcher at Radboud University Nijmegen
Publications - 47
Citations - 2291
Annet Simons is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Fluorescence in situ hybridization & Comparative genomic hybridization. The author has an hindex of 19, co-authored 45 publications receiving 1748 citations. Previous affiliations of Annet Simons include Catholic University of Leuven & Leiden University.
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Journal ArticleDOI
Presence of Genetic Variants Among Young Men With Severe COVID-19.
Caspar I van der Made,Annet Simons,Janneke H M Schuurs-Hoeijmakers,Guus R. M. van den Heuvel,Tuomo Mantere,Simone Kersten,Rosanne C. van Deuren,Marloes Steehouwer,Simon V. van Reijmersdal,Martin Jaeger,Tom Hofste,Galuh D.N. Astuti,Jordi Corominas Galbany,Vyne van der Schoot,Hans van der Hoeven,Eva Klijn,Catrien van den Meer,Jeroen Fiddelaers,Quirijn de Mast,Chantal P. Bleeker-Rovers,Leo A. B. Joosten,Helger G. Yntema,Christian Gilissen,Marcel R. Nelen,Jos W. M. van der Meer,Han G. Brunner,Mihai G. Netea,Frank L. van de Veerdonk,Alexander Hoischen +28 more
TL;DR: In this case series of 4 young male patients with severe COVID-19, rare putative loss-of-function variants of X-chromosomal TLR7 were identified that were associated with impaired type I and II IFN responses and provide insights into the pathogenesis of CO VID-19.
Journal ArticleDOI
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia
Sohela Shah,Kasmintan A. Schrader,Esmé Waanders,Andrew E. Timms,Joseph Vijai,Cornelius Miething,Jeremy Wechsler,Jun J. Yang,James E. Hayes,Robert J. Klein,Jinghui Zhang,Lei Wei,Gang Wu,Michael Rusch,Panduka Nagahawatte,Jing Ma,Shann Ching Chen,Guangchun Song,Jinjun Cheng,Paul A. Meyers,Deepa Bhojwani,Suresh C. Jhanwar,Peter Maslak,Martin Fleisher,Jason Littman,Lily Offit,Rohini Rau-Murthy,Megan Harlan Fleischut,Marina Corines,Rajmohan Murali,Xiaoni Gao,Christopher Manschreck,Thomas Kitzing,Vundavalli V. Murty,Susana C. Raimondi,Roland P. Kuiper,Annet Simons,Joshua D. Schiffman,Kenan Onel,Sharon E. Plon,David A. Wheeler,Deborah I. Ritter,David S. Ziegler,Katherine L. Tucker,Rosemary Sutton,Georgia Chenevix-Trench,Jun Li,David G. Huntsman,Samantha Hansford,Janine Senz,Tom Walsh,Ming Lee,Christopher N. Hahn,Kathryn G. Roberts,Mary Claire King,Sarah M. Lo,Ross L. Levine,Agnes Viale,Nicholas D. Socci,Katherine L. Nathanson,Hamish S. Scott,Mark J. Daly,Steven M. Lipkin,Scott W. Lowe,James R. Downing,David Altshuler,John T. Sandlund,Marshall S. Horwitz,Charles G. Mullighan,Kenneth Offit +69 more
TL;DR: A new heterozygous germline variant, c.547G>A (p.Gly183Ser), affecting the octapeptide domain of PAX5 that was found to segregate with disease in two unrelated kindreds with autosomal dominant B-ALL is reported, implicate PAX5 in a new syndrome of susceptibility to pre-B cell neoplasia.
Journal ArticleDOI
Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.
TL;DR: The multiple nomenclature changes in the respective chapters of the 2013 version compared to the previous version of the ISCN published in 2009 are highlighted as a guide for the cytogeneticist to assist in the transition in the use of this updated nomenClature.
Journal ArticleDOI
ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma.
Pascale De Paepe,Mathijs Baens,Mathijs Baens,Han van Krieken,Han van Krieken,Bruno Verhasselt,Bruno Verhasselt,Michel Stul,Michel Stul,Annet Simons,Annet Simons,B Poppe,B Poppe,Genevieve Laureys,Genevieve Laureys,Paul P. T. Brons,Paul P. T. Brons,Peter Vandenberghe,Peter Vandenberghe,Frank Speleman,Frank Speleman,Marleen Praet,Marleen Praet,Chris De Wolf-Peeters,Chris De Wolf-Peeters,Peter Marynen,Peter Marynen,Iwona Wlodarska,Iwona Wlodarska +28 more
TL;DR: 3 cases of large B-cell lymphoma (LBCL) with a granular cytoplasmic staining for anaplastic lymphoma kinase (ALK) showed striking similarities in morphology and immunohistochemical profile characterized by a massive monomorphic proliferation of CD20-/CD138+ plasmablast-like cells.
Journal ArticleDOI
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Rolph Pfundt,Marisol del Rosario,Lisenka E.L.M. Vissers,Michael Kwint,Irene M. Janssen,Nicole de Leeuw,Helger G. Yntema,Marcel R. Nelen,Dorien Lugtenberg,Erik-Jan Kamsteeg,Nienke Wieskamp,Alexander P.A. Stegmann,Servi J. C. Stevens,Richard J. Rodenburg,Annet Simons,Arjen R. Mensenkamp,Tuula Rinne,Christian Gilissen,Hans Scheffer,Hans Scheffer,Joris A. Veltman,Joris A. Veltman,Jayne Y. Hehir-Kwa +22 more
TL;DR: This study shows that CNVs play an important role in a broad range of genetic disorders and that detection via exome-based CNV profiling results in an increase in the diagnostic yield without additional testing, bringing us closer to single-test genomics.