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Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics.
Eijkelenboom A, Tops BBJ, van den Berg A, van den Brule AJC, Dinjens WNM, Dubbink HJ, Ter Elst A, Geurts-Giele WRR, Groenen PJTA, Groenendijk FH, Heideman DAM, Huibers MMH, Huijsmans CJJ, Jeuken JWM, van Kempen LC, Korpershoek E, Kroeze LI, de Leng WWJ, van Noesel CJM, Speel EM, Vogel MJ, van Wezel T, Nederlof PM, Schuuring E, Ligtenberg MJL. Eijkelenboom A, et al. Among authors: tops bbj. Virchows Arch. 2019 Jun;474(6):673-680. doi: 10.1007/s00428-019-02555-3. Epub 2019 Mar 19. Virchows Arch. 2019. PMID: 30888490 Free PMC article.
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N. Weren RD, et al. Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938944
Next generation sequencing in synovial sarcoma reveals novel gene mutations.
Vlenterie M, Hillebrandt-Roeffen MH, Flucke UE, Groenen PJ, Tops BB, Kamping EJ, Pfundt R, de Bruijn DR, Geurts van Kessel AH, van Krieken HJ, van der Graaf WT, Versleijen-Jonkers YM. Vlenterie M, et al. Oncotarget. 2015 Oct 27;6(33):34680-90. doi: 10.18632/oncotarget.5786. Oncotarget. 2015. PMID: 26415226 Free PMC article.
76 results