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Page 1
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett D, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox N, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Kenny EE, Levy D, Li Y, Lima JA, Liu Y, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito J, Mychaleckyj JC, North K, Orchard P, Parker SC, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S, Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub M, Tiwari HK, Tracy R, Tuftin B, Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Among authors: psaty bm. medRxiv [Preprint]. 2024 Apr 19:2024.04.16.24305851. doi: 10.1101/2024.04.16.24305851. medRxiv. 2024. PMID: 38699360 Free PMC article. Preprint.
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, L… See abstract for full author list ➔ Kanoni S, et al. Among authors: psaty bm. Genome Biol. 2022 Dec 27;23(1):268. doi: 10.1186/s13059-022-02837-1. Genome Biol. 2022. PMID: 36575460 Free PMC article.
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, Arruda ALSV, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franco OH, Frayling TM, Freedman BI, … See abstract for full author list ➔ Suzuki K, et al. Among authors: psaty bm. medRxiv [Preprint]. 2023 Mar 31:2023.03.31.23287839. doi: 10.1101/2023.03.31.23287839. medRxiv. 2023. PMID: 37034649 Free PMC article. Preprint.
Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.
Huffman JE, Nicolas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F, Almasy L, Bartz TM, Bielak LF, Bowler RP, Carrasquilla GD, Chasman DI, Chen MH, Emmert DB, Ghanbari M, Haessle J, Hottenga JJ, Kleber ME, Le NQ, Lee J, Lewis JP, Li-Gao R, Luan J, Malmberg A, Mangino M, Marioni RE, Martinez-Perez A, Pankratz N, Polasek O, Richmond A, Rodriguez BA, Rotter JI, Steri M, Suchon P, Trompet S, Weiss S, Zare M, Auer P, Cho MH, Christofidou P, Davies G, de Geus E, Deleuze JF, Delgado GE, Ekunwe L, Faraday N, Gögele M, Greinacher A, He G, Howard T, Joshi PK, Kilpeläinen TO, Lahti J, Linneberg A, Naitza S, Noordam R, Paüls-Vergés F, Rich SS, Rosendaal FR, Rudan I, Ryan KA, Souto JC, van Rooij FJ, Wang H, Zhao W, Becker LC, Beswick A, Brown MR, Cade BE, Campbell H, Cho K, Crapo JD, Curran JE, de Maat MP, Doyle M, Elliott P, Floyd JS, Fuchsberger C, Grarup N, Guo X, Harris SE, Hou L, Kolcic I, Kooperberg C, Menni C, Nauck M, O'Connell JR, Orrù V, Psaty BM, Räikkönen K, Smith JA, Soria JM, Stott DJ, van Hylckama Vlieg A, Watkins H, Willemsen G, Wilson P, Ben-Shlomo Y, Blangero J, Boomsma D, Cox SR, Dehghan A, Eriksson JG, Fiorillo E, Fornage M, Hansen T, Hayward C, Ikra… See abstract for full author list ➔ Huffman JE, et al. Among authors: psaty bm. medRxiv [Preprint]. 2023 Jun 12:2023.06.07.23291095. doi: 10.1101/2023.06.07.23291095. medRxiv. 2023. Update in: Blood. 2024 Nov 21;144(21):2248-2265. doi: 10.1182/blood.2023022596. PMID: 37398003 Free PMC article. Updated. Preprint.
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study.
Wang Y, Selvaraj MS, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Cade BE, Carlson JC, Carson AP, Chen YI, Curran JE, de Vries PS, Dutcher SK, Ellinor PT, Floyd JS, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, Guo X, He J, Heard-Costa N, Hildalgo B, Hou L, Irvin MR, Joehanes R, Kaplan RC, Kardia SL, Kelly TN, Kim R, Kooperberg C, Kral BG, Levy D, Li C, Liu C, Lloyd-Jone D, Loos RJ, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Murabito JM, Naseri T, O'Connell JR, Palmer ND, Preuss MH, Psaty BM, Raffield LM, Rao DC, Redline S, Reiner AP, Rich SS, Ruepena MS, Sheu WH, Smith JA, Smith A, Tiwari HK, Tsai MY, Viaud-Martinez KA, Wang Z, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Rotter JI, Lin X, Natarajan P, Peloso GM. Wang Y, et al. Among authors: psaty bm. medRxiv [Preprint]. 2023 Jun 29:2023.06.28.23291966. doi: 10.1101/2023.06.28.23291966. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Oct 5;110(10):1704-1717. doi: 10.1016/j.ajhg.2023.09.003. PMID: 37425772 Free PMC article. Updated. Preprint.
Multi-ancestry polygenic risk scores for venous thromboembolism.
Jee YH, Thibord F, Dominguez A, Sept C, Boulier K, Venkateswaran V, Ding Y, Cherlin T, Verma SS, Faro VL, Bartz TM, Boland A, Brody JA, Deleuze JF, Emmerich J, Germain M, Johnson AD, Kooperberg C, Morange PE, Pankratz N, Psaty BM, Reiner AP, Smadja DM, Sitlani CM, Suchon P, Tang W, Trégouët DA, Zöllner S, Pasaniuc B, Damrauer SM, Sanna S, Snieder H; Lifelines Cohort Study; Kabrhel C, Smith NL, Kraft P; INVENT Consortium. Jee YH, et al. Among authors: psaty bm. medRxiv [Preprint]. 2024 Jan 10:2024.01.09.24300914. doi: 10.1101/2024.01.09.24300914. medRxiv. 2024. Update in: Hum Mol Genet. 2024 Sep 3;33(18):1584-1591. doi: 10.1093/hmg/ddae097. PMID: 38260294 Free PMC article. Updated. Preprint.
Association analysis of mitochondrial DNA heteroplasmic variants: methods and application.
Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, Rotter JI, Rich SS, Abecasis G, Carson AP, Vasan RS, Bis JC, Psaty BM, Boerwinkle E, Fitzpatrick AL, Satizabal CL, Arking DE, Ding J, Levy D; TOPMed mtDNA working group; Liu C. Sun X, et al. Among authors: psaty bm. medRxiv [Preprint]. 2024 Jan 13:2024.01.12.24301233. doi: 10.1101/2024.01.12.24301233. medRxiv. 2024. Update in: Mitochondrion. 2024 Sep 7;79:101954. doi: 10.1016/j.mito.2024.101954. PMID: 38260412 Free PMC article. Updated. Preprint.
Plasma proteome-wide analysis of cerebral small vessel disease identifies novel biomarkers and disease pathways.
Gomez GT, Shi L, Fohner AE, Chen J, Yang Y, Fornage M, Duggan MR, Peng Z, Daya GN, Tin A, Schlosser P, Longstreth WT, Kalani R, Sharma M, Psaty BM, Nevado-Holgado AJ, Buckley NJ, Gottesman RF, Lutsey PL, Jack CR, Sullivan KJ, Mosley T, Hughes TM, Coresh J, Walker KA. Gomez GT, et al. Among authors: psaty bm. medRxiv [Preprint]. 2024 Oct 8:2024.10.07.24314972. doi: 10.1101/2024.10.07.24314972. medRxiv. 2024. PMID: 39417098 Free PMC article. Preprint.
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H, Belk JA, Jan M, Qi Y, Sarnowski C, Wirth S, Ma L, Chrostek MR, Ahmad H, Nachun D, Yao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Beiser A, Bick AG, Bis JC, Fornage M, Longstreth WT Jr, Lopez OL, Natarajan P, Psaty BM, Satizabal CL, Weinstock J, Larson EB, Crane PK, Keene CD, Seshadri S, Satpathy AT, Montine TJ, Jaiswal S. Bouzid H, et al. Among authors: psaty bm. Nat Med. 2023 Jul;29(7):1662-1670. doi: 10.1038/s41591-023-02397-2. Epub 2023 Jun 15. Nat Med. 2023. PMID: 37322115 Free PMC article.
1,347 results