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1,453 results

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The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup.
Huang YJ, Kurniansyah N, Goodman MO, Spitzer BW, Wang J, Stilp A, Laurie C, de Vries PS, Chen H, Min YI, Sims M, Peloso GM, Guo X, Bis JC, Brody JA, Raffield LM, Smith JA, Zhao W, Rotter JI, Rich SS, Redline S, Fornage M, Kaplan R, Franceschini N, Levy D, Morrison AC, Boerwinkle E, Smith NL, Kooperberg C, Psaty BM, Zöllner S; Trans-Omics in Precision Medicine Consortium; Sofer T. Huang YJ, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Dec 20:2024.03.05.24303738. doi: 10.1101/2024.03.05.24303738. medRxiv. 2024. PMID: 39763564 Free PMC article. Preprint.
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.
Li R, Gagliano Taliun SA, Liao K, Flickinger M, Sobell JL, Genovese G, Locke AE, Chiu RR, LeFaive J, Martins T, Chapman S, Neumann A, Handsaker RE, Arnett DK, Barnes KC, Boerwinkle E, Braff D, Cade BE, Fornage M, Gibbs RA, Hoth KF, Hou L, Kooperberg C, Loos RJF, Metcalf GA, Montgomery CG, Morrison AC, Qin ZS, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Viaud-Martinez KA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Genomic Psychiatry Cohort investigators; Bigdeli TB, Gabriel S, Zollner S, Smith AV, Abecasis G, McCarroll S, Pato MT, Pato CN, Boehnke M, Knowles J, Kang HM, Ophoff RA, Ernst J, Scott LJ. Li R, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Dec 29:2024.12.27.24319111. doi: 10.1101/2024.12.27.24319111. medRxiv. 2024. PMID: 39763555 Free PMC article. Preprint.
Epigenome-wide Association Analysis of Mitochondrial Heteroplasmy Provides Insight into Molecular Mechanisms of Disease.
Lai M, Kim K, Zheng Y, Castellani CA, Ratliff SM, Wang M, Liu X, Haessler J, Huan T, Bielak LF, Zhao W, Joehanes R, Ma J, Guo X, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Blackwell TW, Lake NJ, Faul JD, Ferrier KR, Hou L, Kooperberg C, Reiner AP, Zhang K, Peyser PA, Fornage M, Boerwinkle E, Raffield LM, Carson AP, Rich SS, Liu Y, Levy D, Rotter JI, Smith JA, Arking DE, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Lai M, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Dec 8:2024.12.05.24318557. doi: 10.1101/2024.12.05.24318557. medRxiv. 2024. PMID: 39677472 Free PMC article. Preprint.
The impact of the Turkish population variome on the genomic architecture of rare disease traits.
Coban-Akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Bozkurt-Yozgatli T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CMB, Shaw CA, Posey JE, Valle D, Lupski JR. Coban-Akdemir Z, et al. Among authors: boerwinkle e. Genet Med Open. 2024 Feb 14;2:101830. doi: 10.1016/j.gimo.2024.101830. eCollection 2024. Genet Med Open. 2024. PMID: 39669594 Free PMC article.
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A, Klonowski J, Yuan B, Coveler KJ, Dardas Z, Egab I, Xu J, Lupo PJ, Agopian AJ, Kostka D, Lo CW, Yi SS, Gelb BD, Seidman CE, Boerwinkle E, Posey JE, Gibbs RA, Lupski JR, Morris SA, Coban-Akdemir Z. Rai A, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Nov 21:2024.11.19.24317385. doi: 10.1101/2024.11.19.24317385. medRxiv. 2024. PMID: 39606420 Free PMC article. Preprint.
Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype.
Nagarajan P, Kurniansyah N, Lee J, Gharib SA, Xu Y, Zhang Y, Spitzer B, Faquih T, Zhou H, Boerwinkle E, Chen H, Gottlieb DJ, Guo X, Heard-Costa NL, Hidalgo BA, Levy D, Liu PY, Mei H, Montalvan R, Mukherjee S, North KE, O'Conner GT, Palmer LJ, Patel SR, Psaty BM, Purcell SM, Raffield LM, Rich SS, Rotter JI, Saxena R, Smith AV, Stone KL, Zhu X; TOPMed Sleep Trait WG; Cade BE, Sofer T, Redline S, Wang H. Nagarajan P, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 Oct 28:2024.10.25.24316158. doi: 10.1101/2024.10.25.24316158. medRxiv. 2024. PMID: 39574859 Free PMC article. Preprint.
Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers.
Shetty NS, Gaonkar M, Pampana A, Patel N, Morrison AC, Reiner AP, Carson AP, Yu B, Psaty BM, Kooperberg C, Fatkin D, Boerwinkle E, Rotter JI, Taylor KD, Hou L, Irvin MR, Hall ME, Maurer M, Fornage M, Armstrong ND, Bart N, Goyal P, Rich SS, Vasan RS, Li P, Arora G, Arora P. Shetty NS, et al. Among authors: boerwinkle e. JACC Heart Fail. 2025 Jan;13(1):91-101. doi: 10.1016/j.jchf.2024.08.019. Epub 2024 Nov 6. JACC Heart Fail. 2025. PMID: 39520444
Multicohort Epigenome-Wide Association Study of All-Cause Cardiovascular Disease and Cancer Incidence: A Cardio-Oncology Approach.
Domingo-Relloso A, Riffo-Campos AL, Zhao N, Ayala G, Haack K, Manterola C, Rhoades DA, Umans JG, Fallin MD, Herreros-Martinez M, Pollan M, Boerwinkle E, Platz EA, Jones MR, Bressler J, Joehanes R, Ryan CP, Gonzalez JR, Levy D, Belsky DW, Cole SA, Michaud DS, Navas-Acien A, Tellez-Plaza M. Domingo-Relloso A, et al. Among authors: boerwinkle e. JACC CardioOncol. 2024 Sep 10;6(5):731-742. doi: 10.1016/j.jaccao.2024.07.014. eCollection 2024 Oct. JACC CardioOncol. 2024. PMID: 39479324 Free PMC article.
1,453 results