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Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS, Meister MT, Bakhuizen JJ, Boer JM, van Eijkelenburg NKA, Hulleman E, Ilan U, Looze EJ, Dierselhuis MP, van der Lugt J, Breunis W, Schild LG, Ober K, van Hooff SR, Scheijde-Vermeulen MA, Hiemcke-Jiwa LS, Flucke UE, Kranendonk MEG, Wesseling P, Sonneveld E, Punt S, Boltjes A, van Dijk F, Verwiel ETP, Volckmann R, Hehir-Kwa JY, Kester LA, Koudijs MMJ, Waanders E, Holstege FCP, Vormoor HJ, Hoving EW, van Noesel MM, Pieters R, Kool M, Stumpf M, Blattner-Johnson M, Balasubramanian GP, Van Tilburg CM, Jones BC, Jones DTW, Witt O, Pfister SM, Jongmans MCJ, Kuiper RP, de Krijger RR, Wijnen MHW, den Boer ML, Zwaan CM, Kemmeren P, Koster J, Tops BBJ, Goemans BF, Molenaar JJ. Langenberg KPS, et al. Among authors: hehir kwa jy. Eur J Cancer. 2022 Nov;175:311-325. doi: 10.1016/j.ejca.2022.09.001. Epub 2022 Sep 29. Eur J Cancer. 2022. PMID: 36182817 Free PMC article.
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. 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.
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
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
Zhang J, Wang X, de Voer RM, Hehir-Kwa JY, Kamping EJ, Weren RDA, Nelen M, Hoischen A, Ligtenberg MJL, Hoogerbrugge N, Yang X, Yang Z, Fan X, Wang L, Liu H, Wang J, Kuiper RP, van Kessel AG. Zhang J, et al. Oncotarget. 2017 Apr 11;8(15):24533-24547. doi: 10.18632/oncotarget.15593. Oncotarget. 2017. PMID: 28445943 Free PMC article.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. Diets IJ, et al. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929739 Free PMC article.
Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma.
Pouwer AW, VAN DEN Einden LCG, VAN DER Linden M, Hehir-Kwa JY, Yu J, Hendriks KM, Kamping EJ, Eijkelenboom A, Massuger LFAG, Bulten J, VAN Tilborg AAG, DE Hullu JA, Kuiper RP. Pouwer AW, et al. Cancer Genomics Proteomics. 2020 Mar-Apr;17(2):151-160. doi: 10.21873/cgp.20175. Cancer Genomics Proteomics. 2020. PMID: 32108037 Free PMC article.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Sabatella M, Mantere T, Waanders E, Neveling K, Mensenkamp AR, van Dijk F, Hehir-Kwa JY, Derks R, Kwint M, O'Gorman L, Tropa Martins M, Gidding CE, Lequin MH, Küsters B, Wesseling P, Nelen M, Biegel JA, Hoischen A, Jongmans MC, Kuiper RP. Sabatella M, et al. J Pathol. 2021 Oct;255(2):202-211. doi: 10.1002/path.5755. Epub 2021 Jul 29. J Pathol. 2021. PMID: 34231212 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. JCO Precis Oncol. 2022 Jan;6:e2000504. doi: 10.1200/PO.20.00504. JCO Precis Oncol. 2022. PMID: 35085008 Free PMC article.
92 results