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1,451 results

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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. 2024 Oct 23:S2213-1779(24)00625-5. doi: 10.1016/j.jchf.2024.08.019. Online ahead of print. JACC Heart Fail. 2024. 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.
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Behera S, Belyeu JR, Chen X, Paulin LF, Nguyen NQH, Newman E, Mahmoud M, Menon VK, Qi Q, Joshi P, Marcovina S, Rossi M, Roller E, Han J, Onuchic V, Avery CL, Ballantyne CM, Rodriguez CJ, Kaplan RC, Muzny DM, Metcalf GA, Gibbs RA, Yu B, Boerwinkle E, Eberle MA, Sedlazeck FJ. Behera S, et al. Among authors: boerwinkle e. BMC Med Genomics. 2024 Oct 24;17(1):255. doi: 10.1186/s12920-024-02024-0. BMC Med Genomics. 2024. PMID: 39449055 Free PMC article.
Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.
Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Kunkle BW, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS; Alzheimer's Disease Sequencing Project; Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Lee WP, et al. Among authors: boerwinkle e. Alzheimers Dement. 2024 Dec;20(12):8470-8483. doi: 10.1002/alz.14283. Epub 2024 Oct 20. Alzheimers Dement. 2024. PMID: 39428839 Free PMC article.
1,451 results