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Page 1
DNA Methylation-Derived Immune Cell Proportions and Cancer Risk, Including Lung Cancer, in Black Participants.
Semancik CS, Zhao N, Koestler DC, Boerwinkle E, Bressler J, Buchsbaum RJ, Kelsey KT, Platz EA, Michaud DS. Semancik CS, et al. Among authors: boerwinkle e. medRxiv [Preprint]. 2024 May 9:2024.05.09.24307118. doi: 10.1101/2024.05.09.24307118. medRxiv. 2024. Update in: Cancer Res Commun. 2024 Oct 1;4(10):2714-2723. doi: 10.1158/2767-9764.CRC-24-0257 PMID: 38766207 Free PMC article. Updated. Preprint.
Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.
Vardarajan BN, Barral S, Jaworski J, Beecham GW, Blue E, Tosto G, Reyes-Dumeyer D, Medrano M, Lantigua R, Naj A, Thornton T, DeStefano A, Martin E, Wang LS, Brown L, Bush W, van Duijn C, Goate A, Farrer L, Haines JL, Boerwinkle E, Schellenberg G, Wijsman E, Pericak-Vance MA, Mayeux R; Alzheimer's Disease Sequencing Project; Wang LS. Vardarajan BN, et al. Among authors: boerwinkle e. Ann Clin Transl Neurol. 2018 Mar 13;5(4):406-417. doi: 10.1002/acn3.537. eCollection 2018 Apr. Ann Clin Transl Neurol. 2018. PMID: 29688227 Free PMC article.
General Kernel Machine Methods for Multi-Omics Integration and Genome-Wide Association Testing With Related Individuals.
Little A, Zhao N, Mikhaylova A, Zhang A, Ling W, Thibord F, Johnson AD, Raffield LM, Curran JE, Blangero J, O'Connell JR, Xu H, Rotter JI, Rich SS, Rice KM, Chen MH, Reiner A, Kooperberg C, Vu T, Hou L, Fornage M, Loos RJF, Kenny E, Mathias R, Becker L, Smith AV, Boerwinkle E, Yu B, Thornton T, Wu MC. Little A, et al. Among authors: boerwinkle e. Genet Epidemiol. 2025 Jan;49(1):e22610. doi: 10.1002/gepi.22610. Genet Epidemiol. 2025. PMID: 39812506
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 DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S; Regeneron Genetics Center; Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B; NHLBI Trans-Omics for Precision Medicine Consortium; Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Among authors: boerwinkle e. Am J Hum Genet. 2025 Jan 6:S0002-9297(24)00456-7. doi: 10.1016/j.ajhg.2024.12.014. Online ahead of print. Am J Hum Genet. 2025. PMID: 39809269
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, Taliun SAG, 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.
1,455 results