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146 results

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Page 1
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Shuey MM, Stead WW, Aka I, Barnado AL, Bastarache JA, Brokamp E, Campbell M, Carroll RJ, Goldstein JA, Lewis A, Malow BA, Mosley JD, Osterman T, Padovani-Claudio DA, Ramirez A, Roden DM, Schuler BA, Siew E, Sucre J, Thomsen I, Tinker RJ, Van Driest S, Walsh C, Warner JL, Wells QS, Wheless L, Bastarache L. Shuey MM, et al. Among authors: mosley jd. Bioinformatics. 2023 Nov 1;39(11):btad655. doi: 10.1093/bioinformatics/btad655. Bioinformatics. 2023. PMID: 37930895 Free PMC article.
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
Wells QS, Becker JR, Su YR, Mosley JD, Weeke P, D'Aoust L, Ausborn NL, Ramirez AH, Pfotenhauer JP, Naftilan AJ, Markham L, Exil V, Roden DM, Hong CC. Wells QS, et al. Among authors: mosley jd. Circ Cardiovasc Genet. 2013 Aug;6(4):317-26. doi: 10.1161/CIRCGENETICS.113.000011. Epub 2013 Jul 16. Circ Cardiovasc Genet. 2013. PMID: 23861363 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. PLoS One. 2013 Dec 12;8(12):e81503. doi: 10.1371/journal.pone.0081503. eCollection 2013. PLoS One. 2013. PMID: 24349080 Free PMC article.
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.
Weeke P, Mosley JD, Hanna D, Delaney JT, Shaffer C, Wells QS, Van Driest S, Karnes JH, Ingram C, Guo Y, Shyr Y, Norris K, Kannankeril PJ, Ramirez AH, Smith JD, Mardis ER, Nickerson D, George AL Jr, Roden DM. Weeke P, et al. Among authors: mosley jd. J Am Coll Cardiol. 2014 Apr 15;63(14):1430-7. doi: 10.1016/j.jacc.2014.01.031. Epub 2014 Feb 19. J Am Coll Cardiol. 2014. PMID: 24561134 Free PMC article.
Biobanks and electronic medical records: enabling cost-effective research.
Bowton E, Field JR, Wang S, Schildcrout JS, Van Driest SL, Delaney JT, Cowan J, Weeke P, Mosley JD, Wells QS, Karnes JH, Shaffer C, Peterson JF, Denny JC, Roden DM, Pulley JM. Bowton E, et al. Among authors: mosley jd. Sci Transl Med. 2014 Apr 30;6(234):234cm3. doi: 10.1126/scitranslmed.3008604. Sci Transl Med. 2014. PMID: 24786321 Free PMC article.
146 results