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Pollitt syndrome patients carry mutation in TTDN1.
Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ. Swagemakers SM, et al. Among authors: kremer a. Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606444 Free PMC article.
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Stubbs A, McClellan EA, Horsman S, Hiltemann SD, Palli I, Nouwens S, Koning AH, Hoogland F, Reumers J, Heijsman D, Swagemakers S, Kremer A, Meijerink J, Lambrechts D, van der Spek PJ. Stubbs A, et al. Among authors: kremer a. J Clin Bioinforma. 2012 Nov 19;2(1):19. doi: 10.1186/2043-9113-2-19. J Clin Bioinforma. 2012. PMID: 23164068 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: kremer a. 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
Tumor-specific mutations in low-frequency genes affect their functional properties.
Erdem-Eraslan L, Heijsman D, de Wit M, Kremer A, Sacchetti A, van der Spek PJ, Sillevis Smitt PA, French PJ. Erdem-Eraslan L, et al. Among authors: kremer a. J Neurooncol. 2015 May;122(3):461-70. doi: 10.1007/s11060-015-1741-1. Epub 2015 Feb 19. J Neurooncol. 2015. PMID: 25694352 Free PMC article.
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Oegema R, et al. Among authors: kremer a. PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. PLoS Genet. 2017. PMID: 28542170 Free PMC article.
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Oegema R, et al. Among authors: kremer a. PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug. PLoS Genet. 2017. PMID: 28763441 Free PMC article.
521 results