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Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Inaba Y, et al. Among authors: shi ez. Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11. Genet Med. 2013. PMID: 23060046 Free article.
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR. Godler DE, et al. Among authors: shi ez. Hum Mol Genet. 2013 Apr 15;22(8):1516-24. doi: 10.1093/hmg/ddt002. Epub 2013 Jan 10. Hum Mol Genet. 2013. PMID: 23307923 Free PMC article.
Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.
Schmiegel W, Scott RJ, Dooley S, Lewis W, Meldrum CJ, Pockney P, Draganic B, Smith S, Hewitt C, Philimore H, Lucas A, Shi E, Namdarian K, Chan T, Acosta D, Ping-Chang S, Tannapfel A, Reinacher-Schick A, Uhl W, Teschendorf C, Wolters H, Stern J, Viebahn R, Friess H, Janssen KP, Nitsche U, Slotta-Huspenina J, Pohl M, Vangala D, Baraniskin A, Dockhorn-Dworniczak B, Hegewisch-Becker S, Ronga P, Edelstein DL, Jones FS, Hahn S, Fox SB. Schmiegel W, et al. Mol Oncol. 2017 Feb;11(2):208-219. doi: 10.1002/1878-0261.12023. Epub 2017 Jan 20. Mol Oncol. 2017. PMID: 28106345 Free PMC article. Clinical Trial.