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Page 1
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 tuil mc. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
Mutations in GRIP1 cause Fraser syndrome.
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Vogel MJ, et al. Among authors: van tuil mc. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510445
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.
Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes.
Meister MT, Groot Koerkamp MJA, de Souza T, Breunis WB, Frazer-Mendelewska E, Brok M, DeMartino J, Manders F, Calandrini C, Kerstens HHD, Janse A, Dolman MEM, Eising S, Langenberg KPS, van Tuil M, Knops RRG, van Scheltinga ST, Hiemcke-Jiwa LS, Flucke U, Merks JHM, van Noesel MM, Tops BBJ, Hehir-Kwa JY, Kemmeren P, Molenaar JJ, van de Wetering M, van Boxtel R, Drost J, Holstege FCP. Meister MT, et al. EMBO Mol Med. 2022 Oct 10;14(10):e16001. doi: 10.15252/emmm.202216001. Epub 2022 Aug 2. EMBO Mol Med. 2022. PMID: 35916583 Free PMC article.
Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors.
van Belzen IAEM, van Tuil M, Badloe S, Strengman E, Janse A, Verwiel ETP, van der Leest DFM, de Vos S, Baker-Hernandez J, Groenendijk A, de Krijger R, Kerstens HHD, Drost J, van den Heuvel-Eibrink MM, Tops BBJ, Holstege FCP, Kemmeren P, Hehir-Kwa JY. van Belzen IAEM, et al. Cancers (Basel). 2022 Oct 5;14(19):4872. doi: 10.3390/cancers14194872. Cancers (Basel). 2022. PMID: 36230794 Free PMC article.
Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.
van Belzen IAEM, Cai C, van Tuil M, Badloe S, Strengman E, Janse A, Verwiel ETP, van der Leest DFM, Kester L, Molenaar JJ, Meijerink J, Drost J, Peng WC, Kerstens HHD, Tops BBJ, Holstege FCP, Kemmeren P, Hehir-Kwa JY. van Belzen IAEM, et al. BMC Cancer. 2023 Jul 3;23(1):618. doi: 10.1186/s12885-023-11054-3. BMC Cancer. 2023. PMID: 37400763 Free PMC article.