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Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.
Barrie ES, Weinshenker D, Verma A, Pendergrass SA, Lange LA, Ritchie MD, Wilson JG, Kuivaniemi H, Tromp G, Carey DJ, Gerhard GS, Brilliant MH, Hebbring SJ, Cubells JF, Pinsonneault JK, Norman GJ, Sadee W. Barrie ES, et al. Circ Res. 2014 Dec 5;115(12):1017-25. doi: 10.1161/CIRCRESAHA.116.304398. Epub 2014 Oct 17. Circ Res. 2014. PMID: 25326128 Free PMC article.
Human Bacterial Artificial Chromosome (BAC) Transgenesis Fully Rescues Noradrenergic Function in Dopamine β-Hydroxylase Knockout Mice.
Cubells JF, Schroeder JP, Barrie ES, Manvich DF, Sadee W, Berg T, Mercer K, Stowe TA, Liles LC, Squires KE, Mezher A, Curtin P, Perdomo DL, Szot P, Weinshenker D. Cubells JF, et al. Among authors: barrie es. PLoS One. 2016 May 5;11(5):e0154864. doi: 10.1371/journal.pone.0154864. eCollection 2016. PLoS One. 2016. PMID: 27148966 Free PMC article.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G. Morgan A, et al. Among authors: barrie es. Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1. Hum Mutat. 2019. PMID: 31397523
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Rose NC, et al. Among authors: barrie es. Genet Med. 2022 Jul;24(7):1379-1391. doi: 10.1016/j.gim.2022.03.019. Epub 2022 May 24. Genet Med. 2022. PMID: 35608568 Free article. Review.
17 results