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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH; for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),; Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Among authors: jarvik gp. Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560121 Free PMC article.
Linkage and association of phospholipid transfer protein activity to LASS4.
Rosenthal EA, Ronald J, Rothstein J, Rajagopalan R, Ranchalis J, Wolfbauer G, Albers JJ, Brunzell JD, Motulsky AG, Rieder MJ, Nickerson DA, Wijsman EM, Jarvik GP. Rosenthal EA, et al. Among authors: jarvik gp. J Lipid Res. 2011 Oct;52(10):1837-46. doi: 10.1194/jlr.P016576. Epub 2011 Jul 13. J Lipid Res. 2011. PMID: 21757428 Free PMC article.
Dietary cholesterol increases paraoxonase 1 enzyme activity.
Kim DS, Burt AA, Ranchalis JE, Richter RJ, Marshall JK, Nakayama KS, Jarvik ER, Eintracht JF, Rosenthal EA, Furlong CE, Jarvik GP. Kim DS, et al. Among authors: jarvik er, jarvik gp. J Lipid Res. 2012 Nov;53(11):2450-8. doi: 10.1194/jlr.P030601. Epub 2012 Aug 15. J Lipid Res. 2012. PMID: 22896672 Free PMC article.
Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT).
Bennette CS, Trinidad SB, Fullerton SM, Patrick D, Amendola L, Burke W, Hisama FM, Jarvik GP, Regier DA, Veenstra DL. Bennette CS, et al. Among authors: jarvik gp. Genet Med. 2013 Nov;15(11):873-81. doi: 10.1038/gim.2013.63. Epub 2013 May 30. Genet Med. 2013. PMID: 23722871 Free PMC article.
513 results