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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: rosenthal ea. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Familial aggregation patterns in mathematical ability.
Wijsman EM, Robinson NM, Ainsworth KH, Rosenthal EA, Holzman T, Raskind WH. Wijsman EM, et al. Among authors: rosenthal ea. Behav Genet. 2004 Jan;34(1):51-62. doi: 10.1023/B:BEGE.0000009476.33020.b9. Behav Genet. 2004. PMID: 14739696
Genetic and nongenetic sources of variation in phospholipid transfer protein activity.
Jarvik GP, Rajagopalan R, Rosenthal EA, Wolfbauer G, McKinstry L, Vaze A, Brunzell J, Motulsky AG, Nickerson DA, Heagerty PJ, Wijsman EM, Albers JJ. Jarvik GP, et al. Among authors: rosenthal ea. J Lipid Res. 2010 May;51(5):983-90. doi: 10.1194/jlr.M000125. Epub 2009 Nov 2. J Lipid Res. 2010. PMID: 19965587 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. 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: rosenthal ea. 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.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Dorschner MO, et al. Among authors: rosenthal ea. Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055113 Free PMC article.
TCIRG1-associated congenital neutropenia.
Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC; UW Center for Mendelian Genomics. Makaryan V, et al. Among authors: rosenthal ea. Hum Mutat. 2014 Jul;35(7):824-7. doi: 10.1002/humu.22563. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24753205 Free PMC article.
78 results