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Page 1
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries.
García-Marín LM, Campos AI, Diaz-Torres S, Rabinowitz JA, Ceja Z, Mitchell BL, Grasby KL, Thorp JG, Agartz I, Alhusaini S, Ames D, Amouyel P, Andreassen OA, Arfanakis K, Vasquez AA, Armstrong NJ, Athanasiu L, Bastin ME, Beiser AS, Bennett DA, Bis JC, Boks MP, Boomsma DI, Brodaty H, Brouwer RM, Buitelaar JK, Burkhardt R, Cahn W, Calhoun VD, Carmichael OT, Chakravarty M, Chen Q, Ching CRK, Cichon S, Crespo-Facorro B, Crivello F, Dale AM, Smith GD, de Geus EJ, De Jager PL, de Zubicaray GI, Debette S, DeCarli C, Depondt C, Desrivières S, Djurovic S, Ehrlich S, Erk S, Espeseth T, Fernández G, Filippi I, Fisher SE, Fleischman DA, Fletcher E, Fornage M, Forstner AJ, Francks C, Franke B, Ge T, Goldman AL, Grabe HJ, Green RC, Grimm O, Groenewold NA, Gruber O, Gudnason V, Håberg AK, Haukvik UK, Heinz A, Hibar DP, Hilal S, Himali JJ, Ho BC, Hoehn DF, Hoekstra PJ, Hofer E, Hoffmann W, Holmes AJ, Homuth G, Hosten N, Ikram MK, Ipser JC, Jack CR Jr, Jahanshad N, Jönsson EG, Kahn RS, Kanai R, Klein M, Knol MJ, Launer LJ, Lawrie SM, Hellard SL, Lee PH, Lemaître H, Li S, Liewald DC, Lin H, Longstreth WT Jr, Lopez OL, Luciano M, Maillard P, Marquand AF, Martin NG, Martinot JL, Mather KA, Mattay VS, … See abstract for full author list ➔ García-Marín LM, et al. Among authors: psaty bm. medRxiv [Preprint]. 2024 Aug 15:2024.08.13.24311922. doi: 10.1101/2024.08.13.24311922. medRxiv. 2024. Update in: Nat Genet. 2024 Nov;56(11):2333-2344. doi: 10.1038/s41588-024-01951-z PMID: 39371125 Free PMC article. Updated. Preprint.
Machine learning models for blood pressure phenotypes combining multiple polygenic risk scores.
Hrytsenko Y, Shea B, Elgart M, Kurniansyah N, Lyons G, Morrison AC, Carson AP, Haring B, Mitchel BD, Psaty BM, Jaeger BC, Gu CC, Kooperberg C, Levy D, Lloyd-Jones D, Choi E, Brody JA, Smith JA, Rotter JI, Moll M, Fornage M, Simon N, Castaldi P, Casanova R, Chung RH, Kaplan R, Loos RJF, Kardia SLR, Rich SS, Redline S, Kelly T, O'Connor T, Zhao W, Kim W, Guo X, Der Ida Chen Y; Trans-Omics in Precision Medicine Consortium; Sofer T. Hrytsenko Y, et al. Among authors: psaty bm. medRxiv [Preprint]. 2023 Dec 14:2023.12.13.23299909. doi: 10.1101/2023.12.13.23299909. medRxiv. 2023. Update in: Sci Rep. 2024 May 30;14(1):12436. doi: 10.1038/s41598-024-62945-9 PMID: 38168328 Free PMC article. Updated. Preprint.
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Einson J, et al. bioRxiv [Preprint]. 2023 Jan 31:2023.01.31.526505. doi: 10.1101/2023.01.31.526505. bioRxiv. 2023. Update in: Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115 PMID: 36778406 Free PMC article. Updated. Preprint.
CUBN is a gene locus for albuminuria.
Böger CA, Chen MH, Tin A, Olden M, Köttgen A, de Boer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu CT, Glazer NL, Li M, O'Connell JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang SJ, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Tönjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarød K, Skorpen F, Syvänen AC, Illig T, Baumert J, Koenig W, Krämer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJ, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Völzke H, Stumvoll M, Mägi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia SL, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Arnlöv J, Hallan S, Navis G; CKDGen Consortium; Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bull SB, Paterson NJ, Wichmann HE, Wareham NJ, Loos RJ, Ro… See abstract for full author list ➔ Böger CA, et al. Among authors: psaty bm. J Am Soc Nephrol. 2011 Mar;22(3):555-70. doi: 10.1681/ASN.2010060598. J Am Soc Nephrol. 2011. PMID: 21355061 Free PMC article.
Genetic Variants Associated with the Biochemical Response to Vitamin D3 in the Multi-Ethnic Study of Atherosclerosis.
Best CM, Li X, Rotter JI, Prince DK, Hsu S, Hoofnagle AN, Siscovick D, Taylor KD, Williams K, Michos ED, Psaty BM, Shea S, Rice KM, Watson KE, Allen NB, Tracy RP, Robinson-Cohen C, de Boer IH, Kestenbaum BR. Best CM, et al. Among authors: psaty bm. J Clin Endocrinol Metab. 2025 Jan 16:dgaf025. doi: 10.1210/clinem/dgaf025. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39815761
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: psaty bm. 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 Free article.
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: psaty bm. medRxiv [Preprint]. 2024 Dec 20:2024.03.05.24303738. doi: 10.1101/2024.03.05.24303738. medRxiv. 2024. PMID: 39763564 Free PMC article. Preprint.
The impact of common and rare genetic variants on bradyarrhythmia development.
Weng LC, Rämö JT, Jurgens SJ, Khurshid S, Chaffin M, Hall AW, Morrill VN, Wang X, Nauffal V, Sun YV, Beer D, Lee S, Nadkarni GN, Duong T, Wang B, Czuba T, Austin TR, Yoneda ZT, Friedman DJ, Clayton A, Hyman MC, Judy RL, Skanes AC, Orland KM, Treu TM, Oetjens MT, Alonso A, Soliman EZ, Lin H, Lunetta KL, van der Pals J, Issa TZ, Nafissi NA, May HT, Leong-Sit P, Roselli C, Choi SH; FinnGen; Million Veteran Program; Regeneron Genetics Center; Khan HR, Knight S, Karlsson Linnér R, Bezzina CR, Ripatti S, Heckbert SR, Gaziano JM, Loos RJF, Psaty BM, Smith JG, Benjamin EJ, Arking DE, Rader DJ, Shah SH, Roden DM, Damrauer SM, Eckhardt LL, Roberts JD, Cutler MJ, Shoemaker MB, Haggerty CM, Cho K, Palotie A, Wilson PWF, Ellinor PT, Lubitz SA. Weng LC, et al. Among authors: psaty bm. Nat Genet. 2025 Jan;57(1):53-64. doi: 10.1038/s41588-024-01978-2. Epub 2025 Jan 2. Nat Genet. 2025. PMID: 39747593 Free PMC article.
1,355 results