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Deep sequencing to reveal new variants in pooled DNA samples.
Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P, Hes FJ. Out AA, et al. Among authors: ariyurek y. Hum Mutat. 2009 Dec;30(12):1703-12. doi: 10.1002/humu.21122. Hum Mutat. 2009. PMID: 19842214
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Sun Y, et al. Among authors: ariyurek y. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Am J Hum Genet. 2010. PMID: 20598277 Free PMC article.
Experiences with array-based sequence capture; toward clinical applications.
Almomani R, van der Heijden J, Ariyurek Y, Lai Y, Bakker E, van Galen M, Breuning MH, den Dunnen JT. Almomani R, et al. Among authors: ariyurek y. Eur J Hum Genet. 2011 Jan;19(1):50-5. doi: 10.1038/ejhg.2010.145. Epub 2010 Nov 24. Eur J Hum Genet. 2011. PMID: 21102627 Free PMC article.
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