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Stef van Lieshout

Netherlands Cancer Institute

12H指数
32论文数
1.1K被引数
收录论文 10
发表时间
A multi-platform reference for somatic structural variation detection
err2022-06-01
err7
errOAAI
errValle-Inclan, Jose Espejo; Besselink, Nicolle J. M.; de Bruijn, Ewart; Cameron, Daniel L.; Ebler, Jana; Kutzera, Joachim; van Lieshout, Stef; Marschall, Tobias; Nelen, Marcel; Priestley, Peter; Renkens, Ivo; Roemer, Margaretha G. M.; Roosmalen, Markus J. van; Wenger, Aaron M.; Ylstra, Bauke; Fijneman, Remond J. A.; Kloosterman, Wigard P.; Cuppen, Edwin
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Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA-minus RNA sequencing data聚腺苷酸化和核糖体RNA减RNA测序数据中的融合转录本及其基因组断点
err2021-12-09
err8
errOAAI
errHoogstrate, Youri; Komor, Malgorzata A.; Bottcher, Rene; van Riet, Job; van de Werken, Harmen J. G.; van Lieshout, Stef; Hoffmann, Ralf; van den Broek, Evert; Bolijn, Anne S.; Dits, Natasja; Sie, Daoud; van der Meer, David; Pepers, Floor; Bangma, Chris H.; van Leenders, Geert J. L. H.; Smid, Marcel; French, Pim J.; Martens, John W. M.; van Workum, Wilbert; van der Spek, Peter J.; Janssen, Bart; Caldenhoven, Eric; Rausch, Christian; de Jong, Mark; Stubbs, Andrew P.; Meijer, Gerrit A.; Fijneman, Remond J. A.; Jenster, Guido W.
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Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics全基因组测序用于癌症诊断的临床验证
err2021-07-01
err51
errOAAI
errRoepman, Paul; de Bruijn, Ewart; van Lieshout, Stef; Schoenmaker, Lieke; Boelens, Mirjam C.; Dubbink, Hendrikus J.; Geurts-Giele, Willemina R. R.; Groenendijk, Floris H.; Huibers, Manon M. H.; Kranendonk, Mariette E. G.; Roemer, Margaretha G. M.; Samsom, Kris G.; Steehouwer, Marloes; de Leng, Wendy W. J.; Hoischen, Alexander; Ylstra, Bauke; Monkhorst, Kim; van der Hoeven, Jacobus J. M.; Cuppen, Edwin
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Characterization of structural variants within MACROD2 in the pathogenesis of colorectal cancer
err2019-07-01
err0
PREAI
errFijneman, Remond J. A.; Mekkes, Nienke; van den Broek, Evert; Stringer, Bas; Glas, Roel A.; Komor, Malgorzata A.; Rausch, Christian; van Lieshout, Stef; Cuppen, Edwin; Smith, Melissa L.; Sebra, Robert P.; Rowell, William J.; Ashby, Meredith; Carvelho, Beatriz; Heringa, Jaap; Meijer, Gerrit A.; Abeln, Sanne
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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
err2016-07-18
err68
errOAAI
errvan 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; Orange, Jordan S.; van Hasselt, Peter M.; Wheeler, David A.; Palecek, Jan J.; Lehmann, Alan R.; Oliver, Antony W.; Pearl, Laurence H.; Plon, Sharon E.; Murray, Johanne M.; van Haaften, Gijs
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QDNAseq: A bioinformatics pipeline for DNA copy number analysis from shallow whole genome sequencing with noise levels near the probabilistic lower limit imposed by read counting
err2016-01-03
err0
PREAI
errSie, Daoud; Scheinin, Ilari; van Lieshout, Stef; Cordes, Martijn; Pinkel, Daniel; Albertson, Donna G.; van de Wiel, Mark A.; Ylstra, Bauke
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Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
err2014-02-01
err129
PREAI
errNijman, Isaac J.; van Montfrans, Joris M.; Hoogstraat, Marlous; Boes, Marianne L.; van de Corput, Lisette; Renner, Ellen D.; van Zon, Patrick; van Lieshout, Stef; Elferink, Martin G.; van der Burg, Mirjam; Vermont, Clementien L.; van der Zwaag, Bert; Janson, Esther; Cuppen, Edwin; van Amstel, Johannes K. Ploos; van Gijn, Marielle E.
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X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
err2012-08-12
err71
PREAI
errHarakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C.; Duran, Karen; Renkens, Ivo; Terhal, Paulien A.; de Kovel, Carolien; Nijman, Ies J.; van Haelst, Mieke; Knoers, Nine V. A. M.; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C. M.; Cuppen, Edwin; van Amstel, Hans Kristian Ploos
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Dominant missense mutations in ABCC9 cause Cantu syndrome
err2012-05-18
err169
PREAI
errHarakalova, Magdalena; van Harssel, Jeske J. T.; Terhal, Paulien A.; van Lieshout, Stef; Duran, Karen; Renkens, Ivo; Amor, David J.; Wilson, Louise C.; Kirk, Edwin P.; Turner, Claire L. S.; Shears, Debbie; Garcia-Minaur, Sixto; Lees, Melissa M.; Ross, Alison; Venselaar, Hanka; Vriend, Gert; Takanari, Hiroki; Rook, Martin B.; van der Heyden, Marcel A. G.; Asselbergs, Folkert W.; Breur, Hans M.; Swinkels, Marielle E.; Scurr, Ingrid J.; Smithson, Sarah F.; Knoers, Nine V.; van der Smagt, Jasper J.; Nijman, Isaac J.; Kloosterman, Wigard P.; van Haelst, Mieke M.; van Haaften, Gijs; Cuppen, Edwin
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Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
err2011-10-19
err170
errOAAI
errKloosterman, Wigard P.; Hoogstraat, Marlous; Paling, Oscar; Tavakoli-Yaraki, Masoumeh; Renkens, Ivo; Vermaat, Joost S.; van Roosmalen, Markus J.; van Lieshout, Stef; Nijman, Isaac J.; Roessingh, Wijnand; van 't Slot, Ruben; van de Belt, Jose; Guryev, Victor; Koudijs, Marco; Voest, Emile; Cuppen, Edwin
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