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Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
Ostrander BEP, Butterfield RJ, Pedersen BS, Farrell AJ, Layer RM, Ward A, Miller C, DiSera T, Filloux FM, Candee MS, Newcomb T, Bonkowsky JL, Marth GT, Quinlan AR. Ostrander BEP, et al. Among authors: newcomb t. NPJ Genom Med. 2018 Aug 13;3:22. doi: 10.1038/s41525-018-0061-8. eCollection 2018. NPJ Genom Med. 2018. PMID: 30109124 Free PMC article.
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ. Butterfield RJ, et al. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19. Neurology. 2014. PMID: 24647030 Free PMC article.
Reassessing carrier status for dystrophinopathies.
Newcomb TM, Flanigan KM. Newcomb TM, et al. Neurol Genet. 2016 Oct 5;2(5):e108. doi: 10.1212/NXG.0000000000000108. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27761523 Free PMC article.
New therapeutic approaches to spinal muscular atrophy.
Lewelt A, Newcomb TM, Swoboda KJ. Lewelt A, et al. Curr Neurol Neurosci Rep. 2012 Feb;12(1):42-53. doi: 10.1007/s11910-011-0240-9. Curr Neurol Neurosci Rep. 2012. PMID: 22134788 Free PMC article. Review.
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.
Zaworski P, von Herrmann KM, Taylor S, Sunshine SS, McCarthy K, Risher N, Newcomb T, Weetall M, Prior TW, Swoboda KJ, Chen KS, Paushkin S. Zaworski P, et al. Among authors: newcomb t. PLoS One. 2016 Mar 8;11(3):e0150640. doi: 10.1371/journal.pone.0150640. eCollection 2016. PLoS One. 2016. PMID: 26953792 Free PMC article.
78 results