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Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Boles RG, Hornung HA, Moody AE, Ortiz TB, Wong SA, Eggington JM, Stanley CM, Gao M, Zhou H, McLaughlin S, Zare AS, Sheldon KM, Skolnick J, McKernan KJ. Boles RG, et al. Among authors: eggington jm. Mitochondrion. 2015 Jul;23:64-70. doi: 10.1016/j.mito.2015.05.002. Epub 2015 May 27. Mitochondrion. 2015. PMID: 26022780 Free PMC article.
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes.
Kerr ID, Cox HC, Moyes K, Evans B, Burdett BC, van Kan A, McElroy H, Vail PJ, Brown KL, Sumampong DB, Monteferrante NJ, Hardman KL, Theisen A, Mundt E, Wenstrup RJ, Eggington JM. Kerr ID, et al. Among authors: eggington jm. J Community Genet. 2017 Apr;8(2):87-95. doi: 10.1007/s12687-016-0289-x. Epub 2017 Jan 3. J Community Genet. 2017. PMID: 28050887 Free PMC article.
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
Pruss D, Morris B, Hughes E, Eggington JM, Esterling L, Robinson BS, van Kan A, Fernandes PH, Roa BB, Gutin A, Wenstrup RJ, Bowles KR. Pruss D, et al. Among authors: eggington jm. Breast Cancer Res Treat. 2014 Aug;147(1):119-32. doi: 10.1007/s10549-014-3065-9. Epub 2014 Aug 2. Breast Cancer Res Treat. 2014. PMID: 25085752 Clinical Trial.
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
Biswas K, Das R, Eggington JM, Qiao H, North SL, Stauffer S, Burkett SS, Martin BK, Southon E, Sizemore SC, Pruss D, Bowles KR, Roa BB, Hunter N, Tessarollo L, Wenstrup RJ, Byrd RA, Sharan SK. Biswas K, et al. Among authors: eggington jm. Hum Mol Genet. 2012 Sep 15;21(18):3993-4006. doi: 10.1093/hmg/dds222. Epub 2012 Jun 7. Hum Mol Genet. 2012. PMID: 22678057 Free PMC article.
Genomic Data Heterogeneity across Molecular Diagnostic Laboratories: A Real-World Connect Myeloid Disease Registry Perspective on Variabilities in Genomic Assay Methodology and Reporting.
Patel JL, Erba HP, Savona MR, Grinblatt DL, Clark M, Clive TC, Smart TB, Makinde AY, DeGutis IS, Yu E, Eggington JM, George TI. Patel JL, et al. Among authors: eggington jm. J Mol Diagn. 2023 Aug;25(8):611-618. doi: 10.1016/j.jmoldx.2023.05.002. J Mol Diagn. 2023. PMID: 37517825 Free article.
14 results