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Page 1
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.
Choi SH, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng LC, Pirruccello JP, Arnar DO, Gudbjartsson DF, Mantineo H, von Falkenhausen AS, Natale A, Tveit A, Geelhoed B, Roselli C, Van Wagoner DR, Darbar D, Haase D, Soliman EZ, Davogustto GE, Jun G, Calkins H, Anderson JL, Brody JA, Halford JL, Barnard J, Hokanson JE, Smith JD, Bis JC, Young K, Johnson LSB, Risch L, Gula LJ, Kwee LC, Chaffin MD, Kühne M, Preuss M, Gupta N, Nafissi NA, Smith NL, Nilsson PM, van der Harst P, Wells QS, Judy RL, Schnabel RB, Johnson R, Smit RAJ, Gabriel S, Knight S, Furukawa T, Blackwell TW, Nauffal V, Wang X, Min YI, Yoneda ZT, Laksman ZWM, Bezzina CR, Alonso A, Psaty BM, Albert CM, Arking DE, Roden DM, Chasman DI, Rader DJ, Conen D, McManus DD, Fatkin D, Benjamin EJ, Boerwinkle E, Marcus GM, Christophersen IE, Smith JG, Roberts JD, Raffield LM, Shoemaker MB, Cho MH, Cutler MJ, Rienstra M, Chung MK, S Olesen M, Sinner MF, Sotoodehnia N, Kirchhof P, Loos RJF, Nazarian S, Mohanty S, Damrauer SM, Kaab S, Heckbert SR, Redline S, Shah SH, Tanaka T, Ebana Y; Regeneron Genetics Center; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Holm H, Stefansson K, … See abstract for full author list ➔ Choi SH, et al. Nat Genet. 2025 Mar;57(3):548-562. doi: 10.1038/s41588-025-02074-9. Epub 2025 Mar 6. Nat Genet. 2025. PMID: 40050430
Rare variants in neuronal excitability genes influence risk for bipolar disorder.
Ament SA, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, Shekhtman T, Badner JA, Brunkow ME, Mauldin DE, Stittrich AB, Rouleau K, Detera-Wadleigh SD, Nurnberger JI Jr, Edenberg HJ, Gershon ES, Schork N; Bipolar Genome Study; Price ND, Gelinas R, Hood L, Craig D, McMahon FJ, Kelsoe JR, Roach JC. Ament SA, et al. Proc Natl Acad Sci U S A. 2015 Mar 17;112(11):3576-81. doi: 10.1073/pnas.1424958112. Epub 2015 Feb 17. Proc Natl Acad Sci U S A. 2015. PMID: 25730879 Free PMC article.
A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.
Luo Y, Kanai M, Choi W, Li X, Sakaue S, Yamamoto K, Ogawa K, Gutierrez-Arcelus M, Gregersen PK, Stuart PE, Elder JT, Forer L, Schönherr S, Fuchsberger C, Smith AV, Fellay J, Carrington M, Haas DW, Guo X, Palmer ND, Chen YI, Rotter JI, Taylor KD, Rich SS, Correa A, Wilson JG, Kathiresan S, Cho MH, Metspalu A, Esko T, Okada Y, Han B; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; McLaren PJ, Raychaudhuri S. Luo Y, et al. Nat Genet. 2021 Oct;53(10):1504-1516. doi: 10.1038/s41588-021-00935-7. Epub 2021 Oct 5. Nat Genet. 2021. PMID: 34611364 Free PMC article.
Carbohydrate metabolism genes and pathways in insects: insights from the honey bee genome.
Kunieda T, Fujiyuki T, Kucharski R, Foret S, Ament SA, Toth AL, Ohashi K, Takeuchi H, Kamikouchi A, Kage E, Morioka M, Beye M, Kubo T, Robinson GE, Maleszka R. Kunieda T, et al. Among authors: ament sa. Insect Mol Biol. 2006 Oct;15(5):563-76. doi: 10.1111/j.1365-2583.2006.00677.x. Insect Mol Biol. 2006. PMID: 17069632 Free PMC article.
Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington's disease.
Bragg RM, Coffey SR, Weston RM, Ament SA, Cantle JP, Minnig S, Funk CC, Shuttleworth DD, Woods EL, Sullivan BR, Jones L, Glickenhaus A, Anderson JS, Anderson MD, Dunnett SB, Wheeler VC, MacDonald ME, Brooks SP, Price ND, Carroll JB. Bragg RM, et al. Among authors: ament sa. Sci Rep. 2017 Mar 28;7:44960. doi: 10.1038/srep44960. Sci Rep. 2017. PMID: 28350386 Free PMC article. No abstract available.
Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease.
Katz DH, Tahir UA, Bick AG, Pampana A, Ngo D, Benson MD, Yu Z, Robbins JM, Chen ZZ, Cruz DE, Deng S, Farrell L, Sinha S, Schmaier AA, Shen D, Gao Y, Hall ME, Correa A, Tracy RP, Durda P, Taylor KD, Liu Y, Johnson WC, Guo X, Yao J, Ida Chen YD, Manichaikul AW, Jain D, Bouchard C, Sarzynski MA, Rich SS, Rotter JI, Wang TJ, Wilson JG, Natarajan P, Gerszten RE; National Heart, Lung, and Blood Institute TOPMed (Trans-Omics for Precision Medicine) Consortium†. Katz DH, et al. Circulation. 2022 Feb;145(5):357-370. doi: 10.1161/CIRCULATIONAHA.121.055117. Epub 2021 Nov 24. Circulation. 2022. PMID: 34814699 Free PMC article.
Variant-specific inflation factors for assessing population stratification at the phenotypic variance level.
Sofer T, Zheng X, Laurie CA, Gogarten SM, Brody JA, Conomos MP, Bis JC, Thornton TA, Szpiro A, O'Connell JR, Lange EM, Gao Y, Cupples LA, Psaty BM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Rice KM. Sofer T, et al. Nat Commun. 2021 Jun 9;12(1):3506. doi: 10.1038/s41467-021-23655-2. Nat Commun. 2021. PMID: 34108454 Free PMC article.
95 results