Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA–minus RNA sequencing data
Hoogstrate, Youri, Komor, Malgorzata A, Böttcher, René, 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
Published in Gigascience (09.12.2021)
Published in Gigascience (09.12.2021)
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GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes [version 2; peer review: 2 approved]
van den Broek, Evert, van Lieshout, Stef, Rausch, Christian, Ylstra, Bauke, van de Wiel, Mark A, Meijer, Gerrit A, Fijneman, Remond J.A, Abeln, Sanne
Published in F1000 research (01.01.2016)
Published in F1000 research (01.01.2016)
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Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
Nijman, Isaac J., PhD, van Montfrans, Joris M., MD, PhD, Hoogstraat, Marlous, BAS, Boes, Marianne L., PhD, van de Corput, Lisette, PhD, Renner, Ellen D., MD, PhD, van Zon, Patrick, BSc, van Lieshout, Stef, BSc, Elferink, Martin G., PhD, van der Burg, Mirjam, PhD, Vermont, Clementien L., MD, PhD, van der Zwaag, Bert, PhD, Janson, Esther, BSc, Cuppen, Edwin, PhD, Ploos van Amstel, Johannes K., PhD, van Gijn, Marielle E., PhD
Published in Journal of allergy and clinical immunology (01.02.2014)
Published in Journal of allergy and clinical immunology (01.02.2014)
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Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
Kloosterman, 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, José, Guryev, Victor, Koudijs, Marco, Voest, Emile, Cuppen, Edwin
Published in Genome Biology (19.10.2011)
Published in Genome Biology (19.10.2011)
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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
Harakalova, 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, Ploos van Amstel, Hans Kristian
Published in Journal of medical genetics (01.08.2012)
Published in Journal of medical genetics (01.08.2012)
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A multi-platform reference for somatic structural variation detection
Espejo Valle-Inclan, Jose, 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., van Roosmalen, Markus J., Wenger, Aaron M., Ylstra, Bauke, Fijneman, Remond J.A., Kloosterman, Wigard P., Cuppen, Edwin
Published in Cell genomics (08.06.2022)
Published in Cell genomics (08.06.2022)
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Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
Schanze, Denny, Harakalova, Magdalena, Stevens, Cathy A., Brancati, Francesco, Dallapiccola, Bruno, Farndon, Peter, Ferraz, Victor E. F., McDonald-McGinn, Donna M., Zackai, Elaine H., Wright, Michael, van Lieshout, Stef, Vogel, Maartje J., van Haelst, Mieke M., Zenker, Martin
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics
Roepman, 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, Mariëtte 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
Published in The Journal of molecular diagnostics : JMD (01.07.2021)
Published in The Journal of molecular diagnostics : JMD (01.07.2021)
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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material
de Leng, Wendy W J, Gadellaa-van Hooijdonk, Christa G, Barendregt-Smouter, Françoise A S, Koudijs, Marco J, Nijman, Ies, Hinrichs, John W J, Cuppen, Edwin, van Lieshout, Stef, Loberg, Robert D, de Jonge, Maja, Voest, Emile E, de Weger, Roel A, Steeghs, Neeltje, Langenberg, Marlies H G, Sleijfer, Stefan, Willems, Stefan M, Lolkema, Martijn P
Published in PloS one (26.02.2016)
Published in PloS one (26.02.2016)
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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
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, 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
Published in The Journal of clinical investigation (01.08.2016)
Published in The Journal of clinical investigation (01.08.2016)
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Dominant missense mutations in ABCC9 cause Cantú syndrome
Harakalova, 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
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
de Kovel, Carolien G.F, Meisler, Miriam H, Brilstra, Eva H, van Berkestijn, Frederique M.C, Slot, Ruben van ‘t, van Lieshout, Stef, Nijman, Isaac J, O’Brien, Janelle E, Hammer, Michael F, Estacion, Mark, Waxman, Stephen G, Dib-Hajj, Sulayman D, Koeleman, Bobby P.C
Published in Epilepsy research (01.11.2014)
Published in Epilepsy research (01.11.2014)
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Abstract 1738: Characterization of structural variants within MACROD2 in the pathogenesis of colorectal cancer
Fijneman, Remond J A, Mekkes, Nienke, Broek, Evert van den, Stringer, Bas, Glas, Roel A., Komor, Malgorzata A., Rausch, Christian, Lieshout, Stef van, Cuppen, Edwin, Smith, Melissa L., Sebra, Robert P., Rowell, William J., Ashby, Meredith, Carvalho, Beatriz, Heringa, Jaap, Meijer, Gerrit A., Abeln, Sanne
Published in Cancer research (Chicago, Ill.) (01.07.2019)
Published in Cancer research (Chicago, Ill.) (01.07.2019)
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Abstract 52: 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
Sie, Daoud, Scheinin, Ilari, Lieshout, Stef van, Cordes, Martijn, Pinkel, Daniel, Albertson, Donna G., Wiel, Mark A. van de, Ylstra, Bauke
Published in Clinical cancer research (01.01.2016)
Published in Clinical cancer research (01.01.2016)
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Effective Therapeutic Intervention and Comprehensive Genetic Analysis of mTOR Signaling in PEComa: A Case Report
Weeber, Fleur, Koudijs, Marco J, Hoogstraat, Marlous, Besselink, Nicolle J M, VAN Lieshout, Stef, Nijman, Isaac J, Cuppen, Edwin, Offerhaus, G Johan, Voest, Emile E
Published in Anticancer research (01.06.2015)
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Published in Anticancer research (01.06.2015)
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GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes
van den Broek, Evert, van Lieshout, Stef, Rausch, Christian, Ylstra, Bauke, van de Wiel, Mark A, Meijer, Gerrit A, Fijneman, Remond J A, Abeln, Sanne
Published in F1000 research (2016)
Published in F1000 research (2016)
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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material: e0149405
Leng, W Jde, Hooijdonk, Christa GGadellaa-van, Barendregt-Smouter, Francoise AS, Koudijs, Marco J, Nijman, Ies, Hinrichs, John WJ, Cuppen, Edwin, Lieshout, Stef van, Loberg, Robert D, Jonge, Maja de
Published in PloS one (01.02.2016)
Published in PloS one (01.02.2016)
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A multi-platform reference for somatic structural variation detection
Jose Espejo Valle-Inclan, Besselink, Nicolle Jm, Ewart De Bruijn, Cameron, Daniel L, Ebler, Jana, Kutzera, Joachim, Stef Van Lieshout, Marschall, Tobias, Nelen, Marcel, Andy Wing Chun Pang, Priestley, Peter, Renkens, Ivo, Roemer, Margaretha Gm, Van Roosmalen, Markus J, Wenger, Aaron M, Ylstra, Bauke, Fijneman, Remond Ja, Kloosterman, Wigard P, Cuppen, Edwin
Published in bioRxiv (16.10.2020)
Published in bioRxiv (16.10.2020)
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