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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Borg J, Papadopoulos P, Georgitsi M, Gutiérrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgür Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Borg J, et al. Among authors: van der spek pj, van ijcken w. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1. Nat Genet. 2010. PMID: 20676099 Free PMC article.
Functional annotation of the human retinal pigment epithelium transcriptome.
Booij JC, van Soest S, Swagemakers SM, Essing AH, Verkerk AJ, van der Spek PJ, Gorgels TG, Bergen AA. Booij JC, et al. Among authors: van der spek pj, van soest s. BMC Genomics. 2009 Apr 20;10:164. doi: 10.1186/1471-2164-10-164. BMC Genomics. 2009. PMID: 19379482 Free PMC article.
Physiological thyroid hormone levels regulate numerous skeletal muscle transcripts.
Visser WE, Heemstra KA, Swagemakers SM, Ozgür Z, Corssmit EP, Burggraaf J, van Ijcken WF, van der Spek PJ, Smit JW, Visser TJ. Visser WE, et al. Among authors: van der spek pj, van ijcken wf. J Clin Endocrinol Metab. 2009 Sep;94(9):3487-96. doi: 10.1210/jc.2009-0782. Epub 2009 Jun 30. J Clin Endocrinol Metab. 2009. PMID: 19567520
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium; Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Sharma VP, et al. Among authors: van der spek pj. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354436 Free PMC article.
Boston type craniosynostosis: report of a second mutation in MSX2.
Florisson JM, Verkerk AJ, Huigh D, Hoogeboom AJ, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IM, van der Spek PJ. Florisson JM, et al. Among authors: van der spek pj. Am J Med Genet A. 2013 Oct;161A(10):2626-33. doi: 10.1002/ajmg.a.36126. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23949913
252 results