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Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, M… See abstract for full author list ➔ Hindy G, et al. Among authors: park ks, park cj, park j. Am J Hum Genet. 2022 Jan 6;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20. Am J Hum Genet. 2022. PMID: 34932938 Free PMC article.
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Ahmadmehrabi S, Li B, Park J, Devkota B, Vujkovic M, Ko YA, Van Wagoner D, Tang WHW, Krantz I, Ritchie M; Regeneron Genetics Center; Brant J, Ruckenstein MJ, Epstein DJ, Rader DJ. Ahmadmehrabi S, et al. Hum Genet. 2021 Jun;140(6):957-967. doi: 10.1007/s00439-021-02263-6. Epub 2021 Mar 21. Hum Genet. 2021. PMID: 33745059
Large-scale identification of undiagnosed hepatic steatosis using natural language processing.
Schneider CV, Li T, Zhang D, Mezina AI, Rattan P, Huang H, Creasy KT, Scorletti E, Zandvakili I, Vujkovic M, Hehl L, Fiksel J, Park J, Wangensteen K, Risman M, Chang KM, Serper M, Carr RM, Schneider KM, Chen J, Rader DJ. Schneider CV, et al. EClinicalMedicine. 2023 Aug 9;62:102149. doi: 10.1016/j.eclinm.2023.102149. eCollection 2023 Aug. EClinicalMedicine. 2023. PMID: 37599905 Free PMC article.
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.
Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG; Regeneron Genetic Center; Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S. Zhang C, et al. medRxiv [Preprint]. 2021 Aug 7:2021.06.28.21259529. doi: 10.1101/2021.06.28.21259529. medRxiv. 2021. PMID: 34230933 Free PMC article. Updated. Preprint.
Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci.
Bellomo TR, Bone WP, Chen BY, Gawronski KAB, Zhang D, Park J, Levin M, Tsao N, Klarin D, Lynch J, Assimes TL, Gaziano JM, Wilson PW, Cho K, Vujkovic M, O'Donnell CJ, Chang KM, Tsao PS, Rader DJ, Ritchie MD, Damrauer SM, Voight BF. Bellomo TR, et al. Front Genet. 2022 Feb 2;12:787545. doi: 10.3389/fgene.2021.787545. eCollection 2021. Front Genet. 2022. PMID: 35186008 Free PMC article.
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D; Regeneron Genetics Center; Penn Medicine BioBank; Green RC, Gold NB. Gold JI, et al. HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37593415 Free PMC article.
7,011 results