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Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study.
Keshawarz A, Bui H, Joehanes R, Ma J, Liu C, Huan T, Hwang SJ, Tejada B, Sooda M, Courchesne P, Munson PJ, Demirkale CY, Yao C, Heard-Costa NL, Pitsillides AN, Lin H, Liu CT, Wang Y, Peloso GM, Lundin J, Haessler J, Du Z, Cho M, Hersh CP, Castaldi P, Raffield LM, Wen J, Li Y, Reiner AP, Feolo M, Sharopova N, Vasan RS, DeMeo DL, Carson AP, Kooperberg C, Levy D. Keshawarz A, et al. Among authors: castaldi p. Sci Rep. 2023 Aug 10;13(1):12952. doi: 10.1038/s41598-023-39936-3. Sci Rep. 2023. PMID: 37563237 Free PMC article.
Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.
McDonald ML, Cho MH, Sørheim IC, Lutz SM, Castaldi PJ, Lomas DA, Coxson HO, Edwards LD, MacNee W, Vestbo J, Yates JC, Agusti A, Calverley PM, Celli B, Crim C, Rennard SI, Wouters EF, Bakke P, Tal-Singer R, Miller BE, Gulsvik A, Casaburi R, Wells JM, Regan EA, Make BJ, Hokanson JE, Lange C, Crapo JD, Beaty TH, Silverman EK, Hersh CP; Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints and COPDGene Investigators. McDonald ML, et al. Among authors: castaldi pj. Am J Respir Cell Mol Biol. 2014 Nov;51(5):678-87. doi: 10.1165/rcmb.2014-0135OC. Am J Respir Cell Mol Biol. 2014. PMID: 24825563 Free PMC article. Clinical Trial.
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.
Sun W, Kechris K, Jacobson S, Drummond MB, Hawkins GA, Yang J, Chen TH, Quibrera PM, Anderson W, Barr RG, Basta PV, Bleecker ER, Beaty T, Casaburi R, Castaldi P, Cho MH, Comellas A, Crapo JD, Criner G, Demeo D, Christenson SA, Couper DJ, Curtis JL, Doerschuk CM, Freeman CM, Gouskova NA, Han MK, Hanania NA, Hansel NN, Hersh CP, Hoffman EA, Kaner RJ, Kanner RE, Kleerup EC, Lutz S, Martinez FJ, Meyers DA, Peters SP, Regan EA, Rennard SI, Scholand MB, Silverman EK, Woodruff PG, O'Neal WK, Bowler RP; SPIROMICS Research Group; COPDGene Investigators. Sun W, et al. Among authors: castaldi p. PLoS Genet. 2016 Aug 17;12(8):e1006011. doi: 10.1371/journal.pgen.1006011. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27532455 Free PMC article.
Genetic regulation of expression of leukotriene A4 hydrolase.
Szul T, Castaldi P, Cho MH, Blalock JE, Gaggar A. Szul T, et al. Among authors: castaldi p. ERJ Open Res. 2016 Feb 9;2(1):00058-2015. doi: 10.1183/23120541.00058-2015. eCollection 2016 Jan. ERJ Open Res. 2016. PMID: 27730172 Free PMC article.
Genomics and response to long-term oxygen therapy in chronic obstructive pulmonary disease.
Seo M, Qiu W, Bailey W, Criner GJ, Dransfield MT, Fuhlbrigge AL, Reilly JJ, Scholand MB, Castaldi P, Chase R, Parker M, Saferali A, Yun JH, Crapo JD, Cho MH, Beaty TH, Silverman EK, Hersh CP. Seo M, et al. Among authors: castaldi p. J Mol Med (Berl). 2018 Dec;96(12):1375-1385. doi: 10.1007/s00109-018-1708-8. Epub 2018 Oct 23. J Mol Med (Berl). 2018. PMID: 30353303 Free PMC article. Clinical Trial.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
365 results