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Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes.
Wood AR, Tuke MA, Nalls M, Hernandez D, Gibbs JR, Lin H, Xu CS, Li Q, Shen J, Jun G, Almeida M, Tanaka T, Perry JR, Gaulton K, Rivas M, Pearson R, Curran JE, Johnson MP, Göring HH, Duggirala R, Blangero J, Mccarthy MI, Bandinelli S, Murray A, Weedon MN, Singleton A, Melzer D, Ferrucci L, Frayling TM. Wood AR, et al. Among authors: gaulton k. Hum Mol Genet. 2015 Mar 1;24(5):1504-12. doi: 10.1093/hmg/ddu560. Epub 2014 Nov 6. Hum Mol Genet. 2015. PMID: 25378555 Free PMC article.
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research.
Costanzo MC, Roselli C, Brandes M, Duby M, Hoang Q, Jang D, Koesterer R, Kudtarkar P, Moriondo A, Nguyen T, Ruebenacker O, Smadbeck P, Sun Y, Butterworth AS, Aragam KG, Lumbers RT, Khera AV, Lubitz SA, Ellinor PT, Gaulton KJ, Flannick J, Burtt NP. Costanzo MC, et al. Among authors: gaulton kj. Circ Genom Precis Med. 2023 Dec;16(6):e004181. doi: 10.1161/CIRCGEN.123.004181. Epub 2023 Oct 10. Circ Genom Precis Med. 2023. PMID: 37814896 No abstract available.
Integration of single-cell multiomic measurements across disease states with genetics identifies mechanisms of beta cell dysfunction in type 2 diabetes.
Wang G, Chiou J, Zeng C, Miller M, Matta I, Han JY, Kadakia N, Okino ML, Beebe E, Mallick M, Camunas-Soler J, Dos Santos T, Dai XQ, Ellis C, Hang Y, Kim SK, MacDonald PE, Kandeel FR, Preissl S, Gaulton KJ, Sander M. Wang G, et al. Among authors: gaulton kj. bioRxiv [Preprint]. 2023 Jan 2:2022.12.31.522386. doi: 10.1101/2022.12.31.522386. bioRxiv. 2023. PMID: 36711922 Free PMC article. Updated. Preprint.
Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal.
Kudtarkar P, Costanzo MC, Sun Y, Jang D, Koesterer R, Mychaleckyj JC, Nayak U, Onengut-Gumuscu S, Rich SS, Flannick JA, Gaulton KJ, Burtt NP. Kudtarkar P, et al. bioRxiv [Preprint]. 2023 Feb 5:2023.02.03.526066. doi: 10.1101/2023.02.03.526066. bioRxiv. 2023. PMID: 36778413 Free PMC article. Updated. Preprint.
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
Pasquali L, Gaulton KJ, Rodríguez-Seguí SA, Mularoni L, Miguel-Escalada I, Akerman İ, Tena JJ, Morán I, Gómez-Marín C, van de Bunt M, Ponsa-Cobas J, Castro N, Nammo T, Cebola I, García-Hurtado J, Maestro MA, Pattou F, Piemonti L, Berney T, Gloyn AL, Ravassard P, Skarmeta JLG, Müller F, McCarthy MI, Ferrer J. Pasquali L, et al. Nat Genet. 2014 Feb;46(2):136-143. doi: 10.1038/ng.2870. Epub 2014 Jan 12. Nat Genet. 2014. PMID: 24413736 Free PMC article.
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ; NHLBI Grand Opportunity Exome Sequencing Project. Lange LA, et al. Among authors: gaulton k. Am J Hum Genet. 2014 Feb 6;94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010. Am J Hum Genet. 2014. PMID: 24507775 Free PMC article.
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