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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Einson J, et al. Among authors: castaldi p. Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115. Genetics. 2023. PMID: 37348055
Cluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysema.
Castaldi PJ, Dy J, Ross J, Chang Y, Washko GR, Curran-Everett D, Williams A, Lynch DA, Make BJ, Crapo JD, Bowler RP, Regan EA, Hokanson JE, Kinney GL, Han MK, Soler X, Ramsdell JW, Barr RG, Foreman M, van Beek E, Casaburi R, Criner GJ, Lutz SM, Rennard SI, Santorico S, Sciurba FC, DeMeo DL, Hersh CP, Silverman EK, Cho MH. Castaldi PJ, et al. Thorax. 2014 May;69(5):415-22. doi: 10.1136/thoraxjnl-2013-203601. Epub 2014 Feb 21. Thorax. 2014. PMID: 24563194 Free PMC article.
Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci.
Castaldi PJ, Cho MH, Zhou X, Qiu W, Mcgeachie M, Celli B, Bakke P, Gulsvik A, Lomas DA, Crapo JD, Beaty TH, Rennard S, Harshfield B, Lange C, Singh D, Tal-Singer R, Riley JH, Quackenbush J, Raby BA, Carey VJ, Silverman EK, Hersh CP. Castaldi PJ, et al. Hum Mol Genet. 2015 Feb 15;24(4):1200-10. doi: 10.1093/hmg/ddu525. Epub 2014 Oct 14. Hum Mol Genet. 2015. PMID: 25315895 Free PMC article.
370 results