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Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.
Hudaiberdiev S, Taylor DL, Song W, Narisu N, Bhuiyan RM, Taylor HJ, Tang X, Yan T, Swift AJ, Bonnycastle LL, Consortium D, Chen S, Stitzel ML, Erdos MR, Ovcharenko I, Collins FS. Hudaiberdiev S, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 2023 Aug 29;120(35):e2206612120. doi: 10.1073/pnas.2206612120. Epub 2023 Aug 21. Proc Natl Acad Sci U S A. 2023. PMID: 37603758 Free PMC article.
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants.
Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, van Bueren KL, Chines PS, Narisu N; NISC Comparative Sequencing Program; Black BL, Visel A, Pennacchio LA, Collins FS; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program Authors; NISC Comparative Sequencing Program Authors. Parker SC, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 2013 Oct 29;110(44):17921-6. doi: 10.1073/pnas.1317023110. Epub 2013 Oct 14. Proc Natl Acad Sci U S A. 2013. PMID: 24127591 Free PMC article.
Genetic regulatory signatures underlying islet gene expression and type 2 diabetes.
Varshney A, Scott LJ, Welch RP, Erdos MR, Chines PS, Narisu N, Albanus RD, Orchard P, Wolford BN, Kursawe R, Vadlamudi S, Cannon ME, Didion JP, Hensley J, Kirilusha A; NISC Comparative Sequencing Program; Bonnycastle LL, Taylor DL, Watanabe R, Mohlke KL, Boehnke M, Collins FS, Parker SC, Stitzel ML. Varshney A, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2301-2306. doi: 10.1073/pnas.1621192114. Epub 2017 Feb 13. Proc Natl Acad Sci U S A. 2017. PMID: 28193859 Free PMC article.
Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle.
Taylor DL, Jackson AU, Narisu N, Hemani G, Erdos MR, Chines PS, Swift A, Idol J, Didion JP, Welch RP, Kinnunen L, Saramies J, Lakka TA, Laakso M, Tuomilehto J, Parker SCJ, Koistinen HA, Davey Smith G, Boehnke M, Scott LJ, Birney E, Collins FS. Taylor DL, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 2019 May 28;116(22):10883-10888. doi: 10.1073/pnas.1814263116. Epub 2019 May 10. Proc Natl Acad Sci U S A. 2019. PMID: 31076557 Free PMC article.
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jørgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjögren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ; Wellcome Trust Case Control Consortium; Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M, Altshuler D. Zeggini E, et al. Among authors: collins fs. Nat Genet. 2008 May;40(5):638-45. doi: 10.1038/ng.120. Epub 2008 Mar 30. Nat Genet. 2008. PMID: 18372903 Free PMC article.
Tissue-specific alternative splicing of TCF7L2.
Prokunina-Olsson L, Welch C, Hansson O, Adhikari N, Scott LJ, Usher N, Tong M, Sprau A, Swift A, Bonnycastle LL, Erdos MR, He Z, Saxena R, Harmon B, Kotova O, Hoffman EP, Altshuler D, Groop L, Boehnke M, Collins FS, Hall JL. Prokunina-Olsson L, et al. Among authors: collins fs. Hum Mol Genet. 2009 Oct 15;18(20):3795-804. doi: 10.1093/hmg/ddp321. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602480 Free PMC article.
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci.
Stitzel ML, Sethupathy P, Pearson DS, Chines PS, Song L, Erdos MR, Welch R, Parker SC, Boyle AP, Scott LJ; NISC Comparative Sequencing Program; Margulies EH, Boehnke M, Furey TS, Crawford GE, Collins FS. Stitzel ML, et al. Among authors: collins fs. Cell Metab. 2010 Nov 3;12(5):443-55. doi: 10.1016/j.cmet.2010.09.012. Cell Metab. 2010. PMID: 21035756 Free PMC article.
Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M. Bonnycastle LL, et al. Among authors: collins fs. Diabetes. 2013 Nov;62(11):3943-50. doi: 10.2337/db13-0571. Epub 2013 Jul 31. Diabetes. 2013. PMID: 23903355 Free PMC article.
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