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Page 1
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF. Maduro V, et al. Among authors: mason ce. Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6. Orphanet J Rare Dis. 2016. PMID: 27179618 Free PMC article.
Detecting false-positive signals in exome sequencing.
Fuentes Fajardo KV, Adams D; NISC Comparative Sequencing Program; Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello T. Fuentes Fajardo KV, et al. Among authors: mason ce. Hum Mutat. 2012 Apr;33(4):609-13. doi: 10.1002/humu.22033. Epub 2012 Mar 5. Hum Mutat. 2012. PMID: 22294350 Free PMC article.
Base-pair resolution DNA methylation sequencing reveals profoundly divergent epigenetic landscapes in acute myeloid leukemia.
Akalin A, Garrett-Bakelman FE, Kormaksson M, Busuttil J, Zhang L, Khrebtukova I, Milne TA, Huang Y, Biswas D, Hess JL, Allis CD, Roeder RG, Valk PJ, Löwenberg B, Delwel R, Fernandez HF, Paietta E, Tallman MS, Schroth GP, Mason CE, Melnick A, Figueroa ME. Akalin A, et al. Among authors: mason ce. PLoS Genet. 2012;8(6):e1002781. doi: 10.1371/journal.pgen.1002781. Epub 2012 Jun 21. PLoS Genet. 2012. PMID: 22737091 Free PMC article.
Genetic and epigenetic heterogeneity in acute myeloid leukemia.
Li S, Mason CE, Melnick A. Li S, et al. Among authors: mason ce. Curr Opin Genet Dev. 2016 Feb;36:100-6. doi: 10.1016/j.gde.2016.03.011. Epub 2016 May 7. Curr Opin Genet Dev. 2016. PMID: 27162099 Free PMC article. Review.
A hybrid mechanism of action for BCL6 in B cells defined by formation of functionally distinct complexes at enhancers and promoters.
Hatzi K, Jiang Y, Huang C, Garrett-Bakelman F, Gearhart MD, Giannopoulou EG, Zumbo P, Kirouac K, Bhaskara S, Polo JM, Kormaksson M, MacKerell AD Jr, Xue F, Mason CE, Hiebert SW, Prive GG, Cerchietti L, Bardwell VJ, Elemento O, Melnick A. Hatzi K, et al. Among authors: mason ce. Cell Rep. 2013 Aug 15;4(3):578-88. doi: 10.1016/j.celrep.2013.06.016. Epub 2013 Aug 1. Cell Rep. 2013. PMID: 23911289 Free PMC article.
Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.
Li S, Garrett-Bakelman FE, Chung SS, Sanders MA, Hricik T, Rapaport F, Patel J, Dillon R, Vijay P, Brown AL, Perl AE, Cannon J, Bullinger L, Luger S, Becker M, Lewis ID, To LB, Delwel R, Löwenberg B, Döhner H, Döhner K, Guzman ML, Hassane DC, Roboz GJ, Grimwade D, Valk PJ, D'Andrea RJ, Carroll M, Park CY, Neuberg D, Levine R, Melnick AM, Mason CE. Li S, et al. Among authors: mason ce. Nat Med. 2016 Jul;22(7):792-9. doi: 10.1038/nm.4125. Epub 2016 Jun 20. Nat Med. 2016. PMID: 27322744 Free PMC article.
417 results