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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. 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.
Maternal attitudes to newborn screening for fragile X syndrome.
Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, Boyle J, Turner C, Hansen J, Hunter M, Goel H, Field M. Christie L, et al. Am J Med Genet A. 2013 Feb;161A(2):301-11. doi: 10.1002/ajmg.a.35752. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303663
Fragile X protein in newborn dried blood spots.
Adayev T, LaFauci G, Dobkin C, Caggana M, Wiley V, Field M, Wotton T, Kascsak R, Nolin SL, Glicksman A, Hosmer N, Brown WT. Adayev T, et al. BMC Med Genet. 2014 Oct 28;15:119. doi: 10.1186/s12881-014-0119-0. BMC Med Genet. 2014. PMID: 25348928 Free PMC article.
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, Bennetts BH, Oertel R, Smith MJ, du Sart D, Bruno D, Wotton TL, Amor DJ, Francis D, Godler DE. Kraan CM, et al. Among authors: wotton tl. Genet Med. 2018 Dec;20(12):1627-1634. doi: 10.1038/gim.2018.52. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595813 Free article.
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Farrar MA, Kariyawasam D, Grattan S, Bayley K, Davis M, Holland S, Waddel LB, Jones K, Lorentzos M, Ravine A, Wotton T, Wiley V; DMD NBS Working Group. Farrar MA, et al. J Neuromuscul Dis. 2023;10(1):15-28. doi: 10.3233/JND-221535. J Neuromuscul Dis. 2023. PMID: 36373292 Free PMC article. Review.
13 results