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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: cohen j. 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.
Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population.
Martyn M, Anderson V, Archibald A, Carter R, Cohen J, Delatycki M, Donath S, Emery J, Halliday J, Hill M, Sheffield L, Slater H, Tassone F, Younie S, Metcalfe S. Martyn M, et al. Among authors: cohen j. BMJ Open. 2013 Sep 10;3(9):e003660. doi: 10.1136/bmjopen-2013-003660. BMJ Open. 2013. PMID: 24022395 Free PMC article.
Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.
Kraan CM, Hocking DR, Georgiou-Karistianis N, Metcalfe SA, Archibald AD, Fielding J, Trollor J, Bradshaw JL, Cohen J, Cornish KM. Kraan CM, et al. Among authors: cohen j. Am J Med Genet B Neuropsychiatr Genet. 2014 Jan;165B(1):41-51. doi: 10.1002/ajmg.b.32203. Epub 2013 Oct 26. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 24166828
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