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Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. McMillin MJ, et al. Among authors: faustman em. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261301 Free PMC article.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Below JE, et al. Among authors: faustman em. Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273567 Free PMC article.
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Turner TN, Hormozdiari F, Duyzend MH, McClymont SA, Hook PW, Iossifov I, Raja A, Baker C, Hoekzema K, Stessman HA, Zody MC, Nelson BJ, Huddleston J, Sandstrom R, Smith JD, Hanna D, Swanson JM, Faustman EM, Bamshad MJ, Stamatoyannopoulos J, Nickerson DA, McCallion AS, Darnell R, Eichler EE. Turner TN, et al. Among authors: faustman em. Am J Hum Genet. 2016 Jan 7;98(1):58-74. doi: 10.1016/j.ajhg.2015.11.023. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749308 Free PMC article.
Measurements of cell death in neuronal and glial cells.
Giordano G, Hong S, Faustman EM, Costa LG. Giordano G, et al. Among authors: faustman em. Methods Mol Biol. 2011;758:171-8. doi: 10.1007/978-1-61779-170-3_11. Methods Mol Biol. 2011. PMID: 21815065 Review.
Susceptibility to quantum dot induced lung inflammation differs widely among the Collaborative Cross founder mouse strains.
Scoville DK, White CC, Botta D, McConnachie LA, Zadworny ME, Schmuck SC, Hu X, Gao X, Yu J, Dills RL, Sheppard L, Delaney MA, Griffith WC, Beyer RP, Zangar RC, Pounds JG, Faustman EM, Kavanagh TJ. Scoville DK, et al. Among authors: faustman em. Toxicol Appl Pharmacol. 2015 Dec 1;289(2):240-50. doi: 10.1016/j.taap.2015.09.019. Epub 2015 Oct 21. Toxicol Appl Pharmacol. 2015. PMID: 26476918 Free PMC article.
214 results