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De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.
DiCorpo D, Gaynor SM, Russell EM, Westerman KE, Raffield LM, Majarian TD, Wu P, Sarnowski C, Highland HM, Jackson A, Hasbani NR, de Vries PS, Brody JA, Hidalgo B, Guo X, Perry JA, O'Connell JR, Lent S, Montasser ME, Cade BE, Jain D, Wang H, D'Oliveira Albanus R, Varshney A, Yanek LR, Lange L, Palmer ND, Almeida M, Peralta JM, Aslibekyan S, Baldridge AS, Bertoni AG, Bielak LF, Chen CS, Chen YI, Choi WJ, Goodarzi MO, Floyd JS, Irvin MR, Kalyani RR, Kelly TN, Lee S, Liu CT, Loesch D, Manson JE, Minster RL, Naseri T, Pankow JS, Rasmussen-Torvik LJ, Reiner AP, Reupena MS, Selvin E, Smith JA, Weeks DE, Xu H, Yao J, Zhao W, Parker S, Alonso A, Arnett DK, Blangero J, Boerwinkle E, Correa A, Cupples LA, Curran JE, Duggirala R, He J, Heckbert SR, Kardia SLR, Kim RW, Kooperberg C, Liu S, Mathias RA, McGarvey ST, Mitchell BD, Morrison AC, Peyser PA, Psaty BM, Redline S, Shuldiner AR, Taylor KD, Vasan RS, Viaud-Martinez KA, Florez JC, Wilson JG, Sladek R, Rich SS, Rotter JI, Lin X, Dupuis J, Meigs JB, Wessel J, Manning AK. DiCorpo D, et al. Among authors: almeida m. Commun Biol. 2022 Jul 28;5(1):756. doi: 10.1038/s42003-022-03702-4. Commun Biol. 2022. PMID: 35902682 Free PMC article.
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: almeida m. 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.
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Jun G, Manning A, Almeida M, Zawistowski M, Wood AR, Teslovich TM, Fuchsberger C, Feng S, Cingolani P, Gaulton KJ, Dyer T, Blackwell TW, Chen H, Chines PS, Choi S, Churchhouse C, Fontanillas P, King R, Lee S, Lincoln SE, Trubetskoy V, DePristo M, Fingerlin T, Grossman R, Grundstad J, Heath A, Kim J, Kim YJ, Laramie J, Lee J, Li H, Liu X, Livne O, Locke AE, Maller J, Mazur A, Morris AP, Pollin TI, Ragona D, Reich D, Rivas MA, Scott LJ, Sim X, Tearle RG, Teo YY, Williams AL, Zöllner S, Curran JE, Peralta J, Akolkar B, Bell GI, Burtt NP, Cox NJ, Florez JC, Hanis CL, McKeon C, Mohlke KL, Seielstad M, Wilson JG, Atzmon G, Below JE, Dupuis J, Nicolae DL, Lehman D, Park T, Won S, Sladek R, Altshuler D, McCarthy MI, Duggirala R, Boehnke M, Frayling TM, Abecasis GR, Blangero J. Jun G, et al. Among authors: almeida m. Proc Natl Acad Sci U S A. 2018 Jan 9;115(2):379-384. doi: 10.1073/pnas.1705859115. Epub 2017 Dec 26. Proc Natl Acad Sci U S A. 2018. PMID: 29279374 Free PMC article.
Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees.
Almasy L, Dyer TD, Peralta JM, Jun G, Wood AR, Fuchsberger C, Almeida MA, Kent JW Jr, Fowler S, Blackwell TW, Puppala S, Kumar S, Curran JE, Lehman D, Abecasis G, Duggirala R, Blangero J; T2D-GENES Consortium. Almasy L, et al. Among authors: almeida ma. BMC Proc. 2014 Jun 17;8(Suppl 1):S2. doi: 10.1186/1753-6561-8-S1-S2. eCollection 2014. BMC Proc. 2014. PMID: 25519314 Free PMC article.
Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.
Blangero J, Teslovich TM, Sim X, Almeida MA, Jun G, Dyer TD, Johnson M, Peralta JM, Manning A, Wood AR, Fuchsberger C, Kent JW Jr, Aguilar DA, Below JE, Farook VS, Arya R, Fowler S, Blackwell TW, Puppala S, Kumar S, Glahn DC, Moses EK, Curran JE, Thameem F, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis C, Abecasis G, Boehnke M, Göring H, Duggirala R, Almasy L; T2D-GENES Consortium. Blangero J, et al. Among authors: almeida ma. BMC Proc. 2016 Oct 18;10(Suppl 7):71-77. doi: 10.1186/s12919-016-0008-y. eCollection 2016. BMC Proc. 2016. PMID: 27980614 Free PMC article.
APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.
Goyal S, Tanigawa Y, Zhang W, Chai JF, Almeida M, Sim X, Lerner M, Chainakul J, Ramiu JG, Seraphin C, Apple B, Vaughan A, Muniu J, Peralta J, Lehman DM, Ralhan S, Wander GS, Singh JR, Mehra NK, Sidorov E, Peyton MD, Blackett PR, Curran JE, Tai ES, van Dam R, Cheng CY, Duggirala R, Blangero J, Chambers JC, Sabanayagam C, Kooner JS, Rivas MA, Aston CE, Sanghera DK. Goyal S, et al. Among authors: almeida m. Lipids Health Dis. 2021 Sep 21;20(1):113. doi: 10.1186/s12944-021-01531-8. Lipids Health Dis. 2021. PMID: 34548093 Free PMC article.
4,188 results