Works by van Roosmalen, Markus J.

Results: 13

Direct detection of 8-oxo-dG using nanopore sequencing.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60391-3

By:

Pagès-Gallego, Marc;
van Soest, Daan M. K.;
Besselink, Nicolle J. M.;
Straver, Roy;
Keijer, Janneke P.;
Vermeulen, Carlo;
Marcozzi, Alessio;
van Roosmalen, Markus J.;
van Boxtel, Ruben;
Burgering, Boudewijn M. T.;
Dansen, Tobias B.;
de Ridder, Jeroen

Publication type:

Article

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

Published in:

Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00899-7

By:

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

Publication type:

Article

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

Published in:

Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0692-0

By:

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

Publication type:

Article

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

Published in:

Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16641-7

By:

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

Publication type:

Article

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220

By:

Vergult, Sarah;
Van Binsbergen, Ellen;
Sante, Tom;
Nowak, Silke;
Vanakker, Olivier;
Claes, Kathleen;
Poppe, Bruce;
Van der Aa, Nathalie;
van Roosmalen, Markus J;
Duran, Karen;
Tavakoli-Yaraki, Masoumeh;
Swinkels, Marielle;
van den Boogaard, Marie-José;
van Haelst, Mieke;
Roelens, Filip;
Speleman, Frank;
Cuppen, Edwin;
Mortier, Geert;
Kloosterman, Wigard P;
Menten, Björn

Publication type:

Article

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

Published in:

2016

By:

van der Crabben, Saskia N.;
Hennus, Marije P.;
McGregor, Grant A.;
Ritter, Deborah I.;
Nagamani, Sandesh C. S.;
Wells, Owen S.;
Harakalova, Magdalena;
Chinn, Ivan K.;
Alt, Aaron;
Vondrova, Lucie;
Hochstenbach, Ron;
van Montfrans, Joris M.;
Terheggen-Lagro, Suzanne W.;
van Lieshout, Stef;
van Roosmalen, Markus J.;
Renkens, Ivo;
Duran, Karen;
Nijman, Isaac J.;
Kloosterman, Wigard P.;
Hennekam, Eric

Publication type:

journal article

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

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01343-4

By:

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

Publication type:

Article

Identification of human D lactate dehydrogenase deficiency.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09458-6

By:

Monroe, Glen R.;
van Eerde, Albertien M.;
Tessadori, Federico;
Duran, Karen J.;
Savelberg, Sanne M. C.;
van Alfen, Johanna C.;
Terhal, Paulien A.;
van der Crabben, Saskia N.;
Lichtenbelt, Klaske D.;
Fuchs, Sabine A.;
Gerrits, Johan;
van Roosmalen, Markus J.;
van Gassen, Koen L.;
van Aalderen, Mirjam;
Koot, Bart G.;
Oostendorp, Marlies;
Duran, Marinus;
Visser, Gepke;
de Koning, Tom J.;
Calì, Francesco

Publication type:

Article

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.

Published in:

Genome Biology, 2011, v. 12, n. 10, p. 1, doi. 10.1186/gb-2011-12-10-r103

By:

Kloosterman, Wigard P.;
Hoogstraat, Marlous;
Paling, Oscar;
Tavakoli-Yarak, Masoumeh;
Renkens, Ivo;
Vermaat, Joost S.;
van Roosmalen, Markus J.;
Lieshout, Stef van;
Nijman, Isaac J.;
Roessingh, Wijnand;
Slot, Ruben van 't;
de Belt, José van;
Guryev, Victor;
Koudijs, Marco;
Voest2, Emile;
Cuppen, Edwin

Publication type:

Article

Selective pressures of platinum compounds shape the evolution of therapy-related myeloid neoplasms.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50384-z

By:

Bertrums, Eline J. M.;
de Kanter, Jurrian K.;
Derks, Lucca L. M.;
Verheul, Mark;
Trabut, Laurianne;
van Roosmalen, Markus J.;
Hasle, Henrik;
Antoniou, Evangelia;
Reinhardt, Dirk;
Dworzak, Michael N.;
Mühlegger, Nora;
van den Heuvel-Eibrink, Marry M.;
Zwaan, C. Michel;
Goemans, Bianca F.;
van Boxtel, Ruben

Publication type:

Article

Mitochondrial H<sub>2</sub>O<sub>2</sub> release does not directly cause damage to chromosomal DNA.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47008-x

By:

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

Publication type:

Article

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.

Published in:

Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0399-z

By:

Middelkamp, Sjors;
van Heesch, Sebastiaan;
Braat, A. Koen;
de Ligt, Joep;
van Iterson, Maarten;
Simonis, Marieke;
van Roosmalen, Markus J.;
Kelder, Martijn J. E.;
Kruisselbrink, Evelien;
Hochstenbach, Ron;
Verbeek, Nienke E.;
Ippel, Elly F.;
Adolfs, Youri;
Pasterkamp, R. Jeroen;
Kloosterman, Wigard P.;
Kuijk, Ewart W.;
Cuppen, Edwin

Publication type:

Article

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

Published in:

eLife, 2019, p. 1, doi. 10.7554/eLife.50292

By:

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

Publication type:

Article