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A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Among authors: spruijt l. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
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: spruijt l. 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.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. Arts HH, et al. Among authors: spruijt l. J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378380
Clinical phenotype of 5 females with a CDKL5 mutation.
Stalpers XL, Spruijt L, Yntema HG, Verrips A. Stalpers XL, et al. Among authors: spruijt l. J Child Neurol. 2012 Jan;27(1):90-3. doi: 10.1177/0883073811413832. Epub 2011 Jul 15. J Child Neurol. 2012. PMID: 21765152
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: spruijt l. Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5. Gastroenterology. 2013. PMID: 23747338
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