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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: steehouwer m. 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.
Massively parallel sequencing of ataxia genes after array-based enrichment.
Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA. Hoischen A, et al. Among authors: steehouwer m. Hum Mutat. 2010 Apr;31(4):494-9. doi: 10.1002/humu.21221. Hum Mutat. 2010. PMID: 20151403
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Gilissen C, et al. Among authors: steehouwer m. Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004. Am J Hum Genet. 2010. PMID: 20817137 Free PMC article.
A de novo paradigm for mental retardation.
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. Vissers LE, et al. Among authors: steehouwer m. Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14. Nat Genet. 2010. PMID: 21076407
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Tylki-Szymańska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Różdżyńska-Świątkowska A, Hoischen A, Chrzanowska KH. Tylki-Szymańska A, et al. Among authors: steehouwer m. J Med Genet. 2015 May;52(5):312-6. doi: 10.1136/jmedgenet-2014-102936. Epub 2015 Feb 10. J Med Genet. 2015. PMID: 25670821
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB. White JJ, et al. Among authors: steehouwer m. Am J Hum Genet. 2016 Mar 3;98(3):553-561. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924530 Free PMC article.
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
Wills ES, Cnossen WR, Veltman JA, Woestenenk R, Steehouwer M, Salomon J, Te Morsche RH, Huch M, Hehir-Kwa JY, Banning MJ, Pfundt R, Roepman R, Hoischen A, Drenth JP. Wills ES, et al. Among authors: steehouwer m. Eur J Hum Genet. 2016 Dec;24(12):1707-1714. doi: 10.1038/ejhg.2016.97. Epub 2016 Aug 24. Eur J Hum Genet. 2016. PMID: 27552964 Free PMC article.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A. Neveling K, et al. Among authors: steehouwer m. Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14. Clin Chem. 2017. PMID: 27974384
44 results