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Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK. Haggerty CM, et al. Among authors: carey dj. Genet Med. 2017 Nov;19(11):1245-1252. doi: 10.1038/gim.2017.40. Epub 2017 May 4. Genet Med. 2017. PMID: 28471438 Free PMC article.
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.
Verma A, Bang L, Miller JE, Zhang Y, Lee MTM, Zhang Y, Byrska-Bishop M, Carey DJ, Ritchie MD, Pendergrass SA, Kim D; DiscovEHR Collaboration. Verma A, et al. Among authors: carey dj. Am J Hum Genet. 2019 Jan 3;104(1):55-64. doi: 10.1016/j.ajhg.2018.11.006. Epub 2018 Dec 29. Am J Hum Genet. 2019. PMID: 30598166 Free PMC article.
Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.
Carruth ED, Young W, Beer D, James CA, Calkins H, Jing L, Raghunath S, Hartzel DN, Leader JB, Kirchner HL, Smelser DT, Carey DJ, Kelly MA, Sturm AC, Alsaid A, Fornwalt BK, Haggerty CM. Carruth ED, et al. Among authors: carey dj. Circ Genom Precis Med. 2019 Nov;12(11):e002579. doi: 10.1161/CIRCGEN.119.002579. Epub 2019 Oct 22. Circ Genom Precis Med. 2019. PMID: 31638835 Free PMC article.
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.
Mosley JD, Van Driest SL, Larkin EK, Weeke PE, Witte JS, Wells QS, Karnes JH, Guo Y, Bastarache L, Olson LM, McCarty CA, Pacheco JA, Jarvik GP, Carrell DS, Larson EB, Crosslin DR, Kullo IJ, Tromp G, Kuivaniemi H, Carey DJ, Ritchie MD, Denny JC, Roden DM. Mosley JD, et al. Among authors: carey dj. PLoS One. 2013 Dec 12;8(12):e81503. doi: 10.1371/journal.pone.0081503. eCollection 2013. PLoS One. 2013. PMID: 24349080 Free PMC article.
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. Among authors: carey dj. 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.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Dewey FE, et al. Among authors: carey dj. Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. Science. 2016. PMID: 28008009
234 results