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Large-scale identification of undiagnosed hepatic steatosis using natural language processing.
Schneider CV, Li T, Zhang D, Mezina AI, Rattan P, Huang H, Creasy KT, Scorletti E, Zandvakili I, Vujkovic M, Hehl L, Fiksel J, Park J, Wangensteen K, Risman M, Chang KM, Serper M, Carr RM, Schneider KM, Chen J, Rader DJ. Schneider CV, et al. Among authors: park j. EClinicalMedicine. 2023 Aug 9;62:102149. doi: 10.1016/j.eclinm.2023.102149. eCollection 2023 Aug. EClinicalMedicine. 2023. PMID: 37599905 Free PMC article.
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Park J, Lucas AM, Zhang X, Chaudhary K, Cho JH, Nadkarni G, Dobbyn A, Chittoor G, Josyula NS, Katz N, Breeyear JH, Ahmadmehrabi S, Drivas TG, Chavali VRM, Fasolino M, Sawada H, Daugherty A, Li Y, Zhang C, Bradford Y, Weaver J, Verma A, Judy RL, Kember RL, Overton JD, Reid JG, Ferreira MAR, Li AH, Baras A, LeMaire SA, Shen YH, Naji A, Kaestner KH, Vahedi G, Edwards TL, Chen J, Damrauer SM, Justice AE, Do R, Ritchie MD, Rader DJ. Park J, et al. Nat Med. 2021 Jan;27(1):66-72. doi: 10.1038/s41591-020-1133-8. Epub 2021 Jan 11. Nat Med. 2021. PMID: 33432171 Free PMC article.
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.
Gu X, Yang H, Sheng X, Ko YA, Qiu C, Park J, Huang S, Kember R, Judy RL, Park J, Damrauer SM, Nadkarni G, Loos RJF, My VTH, Chaudhary K, Bottinger EP, Paranjpe I, Saha A, Brown C, Akilesh S, Hung AM, Palmer M, Baras A, Overton JD, Reid J, Ritchie M, Rader DJ, Susztak K. Gu X, et al. Among authors: park j. Sci Transl Med. 2021 Jan 13;13(576):eaaz1458. doi: 10.1126/scitranslmed.aaz1458. Sci Transl Med. 2021. PMID: 33441424 Free PMC article.
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Ahmadmehrabi S, Li B, Park J, Devkota B, Vujkovic M, Ko YA, Van Wagoner D, Tang WHW, Krantz I, Ritchie M; Regeneron Genetics Center; Brant J, Ruckenstein MJ, Epstein DJ, Rader DJ. Ahmadmehrabi S, et al. Among authors: park j. Hum Genet. 2021 Jun;140(6):957-967. doi: 10.1007/s00439-021-02263-6. Epub 2021 Mar 21. Hum Genet. 2021. PMID: 33745059
Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins.
Khetarpal SA, Vitali C, Levin MG, Klarin D, Park J, Pampana A, Millar JS, Kuwano T, Sugasini D, Subbaiah PV, Billheimer JT, Natarajan P, Rader DJ. Khetarpal SA, et al. Among authors: park j. PLoS Genet. 2021 Sep 20;17(9):e1009802. doi: 10.1371/journal.pgen.1009802. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34543263 Free PMC article.
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