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Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E. Sumner K, et al. Among authors: mitchell s. Genet Test Mol Biomarkers. 2012 Jul;16(7):656-60. doi: 10.1089/gtmb.2011.0204. Epub 2012 Feb 24. Genet Test Mol Biomarkers. 2012. PMID: 22364140
Copy number variation analysis in 98 individuals with PHACE syndrome.
Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Siegel DH, et al. Among authors: mitchell s. J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096700 Free PMC article.
Candidate locus analysis for PHACE syndrome.
Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. Mitchell S, et al. Am J Med Genet A. 2012 Jun;158A(6):1363-7. doi: 10.1002/ajmg.a.35341. Epub 2012 Apr 27. Am J Med Genet A. 2012. PMID: 22544659 Free PMC article.
Benign copy number changes in clinical cytogenetic diagnostics by array CGH.
Whitby H, Tsalenko A, Aston E, Tsang P, Mitchell S, Bayrak-Toydemir P, Hopkins C, Peters G, Bailey DK, Bruhn L, Brothman AR. Whitby H, et al. Among authors: mitchell s. Cytogenet Genome Res. 2008;123(1-4):94-101. doi: 10.1159/000184696. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287143 Free PMC article.
Regulation of YAP and Wnt signaling by the endosomal protein MAMDC4.
Cox CM, Wu MH, Padilla-Rodriguez M, Blum I, Momtaz S, Mitchell SAT, Wilson JM. Cox CM, et al. Among authors: mitchell sat. PLoS One. 2024 May 24;19(5):e0296003. doi: 10.1371/journal.pone.0296003. eCollection 2024. PLoS One. 2024. PMID: 38787854 Free PMC article.
Tensor modeling of MRSA bacteremia cytokine and transcriptional patterns reveals coordinated, outcome-associated immunological programs.
Chin JL, Tan ZC, Chan LC, Ruffin F, Parmar R, Ahn R, Taylor SD, Bayer AS, Hoffmann A, Fowler VG Jr, Reed EF, Yeaman MR, Meyer AS; with the MRSA Systems Immunobiology Group. Chin JL, et al. PNAS Nexus. 2024 May 4;3(5):pgae185. doi: 10.1093/pnasnexus/pgae185. eCollection 2024 May. PNAS Nexus. 2024. PMID: 38779114 Free PMC article.
Specialist physiotherapy for functional motor disorder in England and Scotland (Physio4FMD): a pragmatic, multicentre, phase 3 randomised controlled trial.
Nielsen G, Stone J, Lee TC, Goldstein LH, Marston L, Hunter RM, Carson A, Holt K, Marsden J, Le Novere M, Nazareth I, Noble H, Reuber M, Strudwick AM, Santana Suarez B, Edwards MJ; Physio4FMD study group. Nielsen G, et al. Lancet Neurol. 2024 May 16:S1474-4422(24)00135-2. doi: 10.1016/S1474-4422(24)00135-2. Online ahead of print. Lancet Neurol. 2024. PMID: 38768621
3,997 results