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Page 1
Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans.
Smeekens SP, Ng A, Kumar V, Johnson MD, Plantinga TS, van Diemen C, Arts P, Verwiel ET, Gresnigt MS, Fransen K, van Sommeren S, Oosting M, Cheng SC, Joosten LA, Hoischen A, Kullberg BJ, Scott WK, Perfect JR, van der Meer JW, Wijmenga C, Netea MG, Xavier RJ. Smeekens SP, et al. Among authors: verwiel et. Nat Commun. 2013;4:1342. doi: 10.1038/ncomms2343. Nat Commun. 2013. PMID: 23299892 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. Among authors: verwiel et. Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938944
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
de Voer RM, Hahn MM, Mensenkamp AR, Hoischen A, Gilissen C, Henkes A, Spruijt L, van Zelst-Stams WA, Kets CM, Verwiel ET, Nagtegaal ID, Schackert HK, van Kessel AG, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. de Voer RM, et al. Among authors: verwiel et. Sci Rep. 2015 Sep 11;5:14060. doi: 10.1038/srep14060. Sci Rep. 2015. PMID: 26358404 Free PMC article.
The role of interleukin-1 beta in the pathophysiology of Schnitzler's syndrome.
de Koning HD, Schalkwijk J, Stoffels M, Jongekrijg J, Jacobs JF, Verwiel E, Koenen HJ, Preijers F, Holzinger D, Joosten I, van der Meer JW, Simon A. de Koning HD, et al. Arthritis Res Ther. 2015 Jul 22;17(1):187. doi: 10.1186/s13075-015-0696-0. Arthritis Res Ther. 2015. PMID: 26198339 Free PMC article.
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Koolen DA, et al. Among authors: verwiel et. Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262. Nat Genet. 2012. PMID: 22544363
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Jongmans MC, et al. Among authors: verwiel et. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 Free PMC article.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.
de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP. de Voer RM, et al. Among authors: verwiel et. Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5. Gastroenterology. 2013. PMID: 23747338
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
Weren RD, Venkatachalam R, Cazier JB, Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk M, Kamping EJ, Kiemeney LA, Neveling K, Aben KK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A, Kuiper RP. Weren RD, et al. Among authors: verwiel et. J Pathol. 2015 Jun;236(2):155-64. doi: 10.1002/path.4520. Epub 2015 Mar 26. J Pathol. 2015. PMID: 25712196 Free PMC article.
Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing.
Hehir-Kwa JY, Koudijs MJ, Verwiel ETP, Kester LA, van Tuil M, Strengman E, Buijs A, Kranendonk MEG, Hiemcke-Jiwa LS, de Haas V, van de Geer E, de Leng W, van der Lugt J, Lijnzaad P, Holstege FCP, Kemmeren P, Tops BBJ. Hehir-Kwa JY, et al. Among authors: verwiel etp. JCO Precis Oncol. 2022 Jan;6:e2000504. doi: 10.1200/PO.20.00504. JCO Precis Oncol. 2022. PMID: 35085008 Free PMC article.
27 results