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Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.
Du M, Yuan T, Schilter KF, Dittmar RL, Mackinnon A, Huang X, Tschannen M, Worthey E, Jacob H, Xia S, Gao J, Tillmans L, Lu Y, Liu P, Thibodeau SN, Wang L. Du M, et al. Among authors: schilter kf. Hum Mol Genet. 2015 Jan 1;24(1):154-66. doi: 10.1093/hmg/ddu426. Epub 2014 Aug 22. Hum Mol Genet. 2015. PMID: 25149474 Free PMC article.
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Reis LM, et al. Among authors: schilter kf. Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22. Hum Genet. 2011. PMID: 21340693 Free PMC article.
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH. Schilter KF, et al. Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686325 Free PMC article.
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. Reis LM, et al. Among authors: schilter kf. Eur J Hum Genet. 2012 Dec;20(12):1224-33. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9. Eur J Hum Genet. 2012. PMID: 22569110 Free PMC article.
8q21.11 microdeletion in two patients with syndromic peters anomaly.
Happ H, Schilter KF, Weh E, Reis LM, Semina EV. Happ H, et al. Among authors: schilter kf. Am J Med Genet A. 2016 Sep;170(9):2471-5. doi: 10.1002/ajmg.a.37840. Epub 2016 Jul 5. Am J Med Genet A. 2016. PMID: 27378168 Free PMC article. Review.
22 results