Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics.
Roepman P, de Bruijn E, van Lieshout S, Schoenmaker L, Boelens MC, Dubbink HJ, Geurts-Giele WRR, Groenendijk FH, Huibers MMH, Kranendonk MEG, Roemer MGM, Samsom KG, Steehouwer M, de Leng WWJ, Hoischen A, Ylstra B, Monkhorst K, van der Hoeven JJM, Cuppen E. Roepman P, et al. Among authors: van lieshout s. J Mol Diagn. 2021 Jul;23(7):816-833. doi: 10.1016/j.jmoldx.2021.04.011. Epub 2021 May 6. J Mol Diagn. 2021. PMID: 33964451 Free article.
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.
Kloosterman WP, Hoogstraat M, Paling O, Tavakoli-Yaraki M, Renkens I, Vermaat JS, van Roosmalen MJ, van Lieshout S, Nijman IJ, Roessingh W, van 't Slot R, van de Belt J, Guryev V, Koudijs M, Voest E, Cuppen E. Kloosterman WP, et al. Among authors: van t slot r, van lieshout s, van de belt j, van roosmalen mj. Genome Biol. 2011 Oct 19;12(10):R103. doi: 10.1186/gb-2011-12-10-r103. Genome Biol. 2011. PMID: 22014273 Free PMC article.
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Nijman IJ, et al. Among authors: van lieshout s, van gijn me, van der zwaag b, van de corput l, van der burg m, van montfrans jm, van zon p. J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139496
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 WW, Gadellaa-van Hooijdonk CG, Barendregt-Smouter FA, Koudijs MJ, Nijman I, Hinrichs JW, Cuppen E, van Lieshout S, Loberg RD, de Jonge M, Voest EE, de Weger RA, Steeghs N, Langenberg MH, Sleijfer S, Willems SM, Lolkema MP. de Leng WW, et al. Among authors: van lieshout s. PLoS One. 2016 Feb 26;11(2):e0149405. doi: 10.1371/journal.pone.0149405. eCollection 2016. PLoS One. 2016. PMID: 26919633 Free PMC article.
A multi-platform reference for somatic structural variation detection.
Espejo Valle-Inclan J, Besselink NJM, de Bruijn E, Cameron DL, Ebler J, Kutzera J, van Lieshout S, Marschall T, Nelen M, Priestley P, Renkens I, Roemer MGM, van Roosmalen MJ, Wenger AM, Ylstra B, Fijneman RJA, Kloosterman WP, Cuppen E. Espejo Valle-Inclan J, et al. Among authors: van lieshout s. Cell Genom. 2022 Jun 8;2(6):100139. doi: 10.1016/j.xgen.2022.100139. eCollection 2022 Jun 8. Cell Genom. 2022. PMID: 36778136 Free PMC article.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: van haelst mm, van lieshout s, van haaften g, van der smagt jj, van harssel jj, van der heyden ma. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. Among authors: van haelst m, van lieshout s, van den boogaard mj, van haaften g, van tuil mc. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA-minus RNA sequencing data.
Hoogstrate Y, Komor MA, Böttcher R, van Riet J, van de Werken HJG, van Lieshout S, Hoffmann R, van den Broek E, Bolijn AS, Dits N, Sie D, van der Meer D, Pepers F, Bangma CH, van Leenders GJLH, Smid M, French PJ, Martens JWM, van Workum W, van der Spek PJ, Janssen B, Caldenhoven E, Rausch C, de Jong M, Stubbs AP, Meijer GA, Fijneman RJA, Jenster GW. Hoogstrate Y, et al. Among authors: van lieshout s. Gigascience. 2021 Dec 9;10(12):giab080. doi: 10.1093/gigascience/giab080. Gigascience. 2021. PMID: 34891161 Free PMC article.
23 results