MutationalPatterns: the one stop shop for the analysis of mutational processes

by Freek Manders, Arianne M. Brandsma, Jurrian de Kanter, Mark Verheul, Rurika Oka, Markus J. van Roosmalen, Bastiaan van der Roest, Arne van Hoeck, Edwin Cuppen, Ruben van Boxtel
Published 2022-02-01

Human induced pluripotent stem cells display a similar mutation burden as embryonic pluripotent cells in vivo

by Karlijn A.L. Hasaart, Freek Manders, Joske Ubels, Mark Verheul, Markus J. van Roosmalen, Niels M. Groenen, Rurika Oka, Ewart Kuijk, Susana M. Chuva de Sousa Lopes, Ruben van Boxtel
Published 2022-02-01

Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

by Maja Kneissig, Kristina Keuper, Mirjam S de Pagter, Markus J van Roosmalen, Jana Martin, Hannah Otto, Verena Passerini, Aline Campos Sparr, Ivo Renkens, Fenna Kropveld, Anand Vasudevan, Jason M Sheltzer, Wigard P Kloosterman, Zuzana Storchova
Published 2019-11-01

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

by Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen
Published 2019-12-01

Mitochondrial H2O2 release does not directly cause damage to chromosomal DNA

by Daan M. K. van Soest, Paulien E. Polderman, Wytze T. F. den Toom, Janneke P. Keijer, Markus J. van Roosmalen, Tim M. F. Leyten, Johannes Lehmann, Susan Zwakenberg, Sasha De Henau, Ruben van Boxtel, Boudewijn M. T. Burgering, Tobias B. Dansen
Published 2024-03-01

Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing

by Christina Stangl, Sam de Blank, Ivo Renkens, Liset Westera, Tamara Verbeek, Jose Espejo Valle-Inclan, Rocio Chamorro González, Anton G. Henssen, Markus J. van Roosmalen, Ronald W. Stam, Emile E. Voest, Wigard P. Kloosterman, Gijs van Haaften, Glen R. Monroe
Published 2020-06-01

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

by Mircea Cretu Stancu, Markus J. van Roosmalen, Ivo Renkens, Marleen M. Nieboer, Sjors Middelkamp, Joep de Ligt, Giulia Pregno, Daniela Giachino, Giorgia Mandrile, Jose Espejo Valle-Inclan, Jerome Korzelius, Ewart de Bruijn, Edwin Cuppen, Michael E. Talkowski, Tobias Marschall, Jeroen de Ridder, Wigard P. Kloosterman
Published 2017-11-01

Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients

by Jose Espejo Valle-Inclan, Christina Stangl, Anouk C. de Jong, Lisanne F. van Dessel, Markus J. van Roosmalen, Jean C. A. Helmijr, Ivo Renkens, Roel Janssen, Sam de Blank, Chris J. de Witte, John W. M. Martens, Maurice P. H. M. Jansen, Martijn P. Lolkema, Wigard P. Kloosterman
Published 2021-05-01

A multi-platform reference for somatic structural variation detection

by Jose Espejo Valle-Inclan, Nicolle J.M. Besselink, Ewart de Bruijn, Daniel L. Cameron, Jana Ebler, Joachim Kutzera, Stef van Lieshout, Tobias Marschall, Marcel Nelen, Peter Priestley, Ivo Renkens, Margaretha G.M. Roemer, Markus J. van Roosmalen, Aaron M. Wenger, Bauke Ylstra, Remond J.A. Fijneman, Wigard P. Kloosterman, Edwin Cuppen
Published 2022-06-01

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

by Wigard P. Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia A.L. Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen
Published 2012-06-01

Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

by Sebastiaan van Heesch, Marieke Simonis, Markus J. van Roosmalen, Vamsee Pillalamarri, Harrison Brand, Ewart W. Kuijk, Kim L. de Luca, Nico Lansu, A. Koen Braat, Androniki Menelaou, Wensi Hao, Jeroen Korving, Simone Snijder, Lars T. van der Veken, Ron Hochstenbach, Alida C. Knegt, Karen Duran, Ivo Renkens, Najla Alekozai, Myrthe Jager, Sarah Vergult, Björn Menten, Ewart de Bruijn, Sander Boymans, Elly Ippel, Ellen van Binsbergen, Michael E. Talkowski, Klaske Lichtenbelt, Edwin Cuppen, Wigard P. Kloosterman
Published 2014-12-01

Identification of human D lactate dehydrogenase deficiency

by Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans
Published 2019-04-01