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regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions.
Teng M, Ichikawa S, Padgett LR, Wang Y, Mort M, Cooper DN, Koller DL, Foroud T, Edenberg HJ, Econs MJ, Liu Y. Teng M, et al. Among authors: padgett lr. Bioinformatics. 2012 Jul 15;28(14):1879-86. doi: 10.1093/bioinformatics/bts275. Epub 2012 May 18. Bioinformatics. 2012. PMID: 22611130 Free PMC article.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK. Ganapathi M, et al. Among authors: padgett lr. Am J Hum Genet. 2019 Feb 7;104(2):287-298. doi: 10.1016/j.ajhg.2018.12.017. Epub 2019 Jan 17. Am J Hum Genet. 2019. PMID: 30661771 Free PMC article.
28 results