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Year Number of Results
2008 1
2009 1
2010 2
2011 5
2012 7
2013 11
2014 10
2015 11
2016 16
2017 8
2018 6
2019 3
2020 2
2021 5
2022 9
2023 3
2024 1

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84 results

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Page 1
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Advances in Understanding Air Pollution and CVD.
Kaufman JD, Spalt EW, Curl CL, Hajat A, Jones MR, Kim SY, Vedal S, Szpiro AA, Gassett A, Sheppard L, Daviglus ML, Adar SD. Kaufman JD, et al. Glob Heart. 2016 Sep;11(3):343-352. doi: 10.1016/j.gheart.2016.07.004. Glob Heart. 2016. PMID: 27741981 Free PMC article. Review.
Clonal hematopoiesis associated with epigenetic aging and clinical outcomes.
Nachun D, Lu AT, Bick AG, Natarajan P, Weinstock J, Szeto MD, Kathiresan S, Abecasis G, Taylor KD, Guo X, Tracy R, Durda P, Liu Y, Johnson C, Rich SS, Van Den Berg D, Laurie C, Blackwell T, Papanicolaou GJ, Correa A, Raffield LM, Johnson AD, Murabito J, Manson JE, Desai P, Kooperberg C, Assimes TL, Levy D, Rotter JI, Reiner AP, Whitsel EA, Wilson JG, Horvath S, Jaiswal S; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Nachun D, et al. Aging Cell. 2021 Jun;20(6):e13366. doi: 10.1111/acel.13366. Epub 2021 May 29. Aging Cell. 2021. PMID: 34050697 Free PMC article.
Association of clonal hematopoiesis with chronic obstructive pulmonary disease.
Miller PG, Qiao D, Rojas-Quintero J, Honigberg MC, Sperling AS, Gibson CJ, Bick AG, Niroula A, McConkey ME, Sandoval B, Miller BC, Shi W, Viswanathan K, Leventhal M, Werner L, Moll M, Cade BE, Barr RG, Correa A, Cupples LA, Gharib SA, Jain D, Gogarten SM, Lange LA, London SJ, Manichaikul A, O'Connor GT, Oelsner EC, Redline S, Rich SS, Rotter JI, Ramachandran V, Yu B, Sholl L, Neuberg D, Jaiswal S, Levy BD, Owen CA, Natarajan P, Silverman EK, van Galen P, Tesfaigzi Y, Cho MH, Ebert BL; COPDGene Study Investigators, National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Consortium. Miller PG, et al. Blood. 2022 Jan 20;139(3):357-368. doi: 10.1182/blood.2021013531. Blood. 2022. PMID: 34855941 Free PMC article.
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology & Hemostasis Working Group; Raffield LM, Reiner AP, Li Y. Kowalski MH, et al. PLoS Genet. 2019 Dec 23;15(12):e1008500. doi: 10.1371/journal.pgen.1008500. eCollection 2019 Dec. PLoS Genet. 2019. PMID: 31869403 Free PMC article.
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de Las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST; NHLBI CARE Network; Mak AC, Loos RJ, Kumar … See abstract for full author list ➔ Taub MA, et al. Cell Genom. 2022 Jan 12;2(1):100084. doi: 10.1016/j.xgen.2021.100084. Epub 2022 Jan 13. Cell Genom. 2022. PMID: 35530816 Free PMC article.
Genetic associations with valvular calcification and aortic stenosis.
Thanassoulis G, Campbell CY, Owens DS, Smith JG, Smith AV, Peloso GM, Kerr KF, Pechlivanis S, Budoff MJ, Harris TB, Malhotra R, O'Brien KD, Kamstrup PR, Nordestgaard BG, Tybjaerg-Hansen A, Allison MA, Aspelund T, Criqui MH, Heckbert SR, Hwang SJ, Liu Y, Sjogren M, van der Pals J, Kälsch H, Mühleisen TW, Nöthen MM, Cupples LA, Caslake M, Di Angelantonio E, Danesh J, Rotter JI, Sigurdsson S, Wong Q, Erbel R, Kathiresan S, Melander O, Gudnason V, O'Donnell CJ, Post WS; CHARGE Extracoronary Calcium Working Group. Thanassoulis G, et al. N Engl J Med. 2013 Feb 7;368(6):503-12. doi: 10.1056/NEJMoa1109034. N Engl J Med. 2013. PMID: 23388002 Free PMC article.
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.
Kelly TN, Sun X, He KY, Brown MR, Taliun SAG, Hellwege JN, Irvin MR, Mi X, Brody JA, Franceschini N, Guo X, Hwang SJ, de Vries PS, Gao Y, Moscati A, Nadkarni GN, Yanek LR, Elfassy T, Smith JA, Chung RH, Beitelshees AL, Patki A, Aslibekyan S, Blobner BM, Peralta JM, Assimes TL, Palmas WR, Liu C, Bress AP, Huang Z, Becker LC, Hwa CM, O'Connell JR, Carlson JC, Warren HR, Das S, Giri A, Martin LW, Craig Johnson W, Fox ER, Bottinger EP, Razavi AC, Vaidya D, Chuang LM, Chang YC, Naseri T, Jain D, Kang HM, Hung AM, Srinivasasainagendra V, Snively BM, Gu D, Montasser ME, Reupena MS, Heavner BD, LeFaive J, Hixson JE, Rice KM, Wang FF, Nielsen JB, Huang J, Khan AT, Zhou W, Nierenberg JL, Laurie CC, Armstrong ND, Shi M, Pan Y, Stilp AM, Emery L, Wong Q, Hawley NL, Minster RL, Curran JE, Munroe PB, Weeks DE, North KE, Tracy RP, Kenny EE, Shimbo D, Chakravarti A, Rich SS, Reiner AP, Blangero J, Redline S, Mitchell BD, Rao DC, Ida Chen YD, Kardia SLR, Kaplan RC, Mathias RA, He J, Psaty BM, Fornage M, Loos RJF, Correa A, Boerwinkle E, Rotter JI, Kooperberg C, Edwards TL, Abecasis GR, Zhu X, Levy D, Arnett DK, Morrison AC; Samoan Obesity, Lifestyle, and Genetic Adaptations Study (OLaGA) Group,‡ N… See abstract for full author list ➔ Kelly TN, et al. Hypertension. 2022 Aug;79(8):1656-1667. doi: 10.1161/HYPERTENSIONAHA.122.19324. Epub 2022 Jun 2. Hypertension. 2022. PMID: 35652341 Free PMC article.
A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
Noordam R, Sitlani CM, Avery CL, Stewart JD, Gogarten SM, Wiggins KL, Trompet S, Warren HR, Sun F, Evans DS, Li X, Li J, Smith AV, Bis JC, Brody JA, Busch EL, Caulfield MJ, Chen YI, Cummings SR, Cupples LA, Duan Q, Franco OH, Méndez-Giráldez R, Harris TB, Heckbert SR, van Heemst D, Hofman A, Floyd JS, Kors JA, Launer LJ, Li Y, Li-Gao R, Lange LA, Lin HJ, de Mutsert R, Napier MD, Newton-Cheh C, Poulter N, Reiner AP, Rice KM, Roach J, Rodriguez CJ, Rosendaal FR, Sattar N, Sever P, Seyerle AA, Slagboom PE, Soliman EZ, Sotoodehnia N, Stott DJ, Stürmer T, Taylor KD, Thornton TA, Uitterlinden AG, Wilhelmsen KC, Wilson JG, Gudnason V, Jukema JW, Laurie CC, Liu Y, Mook-Kanamori DO, Munroe PB, Rotter JI, Vasan RS, Psaty BM, Stricker BH, Whitsel EA. Noordam R, et al. J Med Genet. 2017 May;54(5):313-323. doi: 10.1136/jmedgenet-2016-104112. Epub 2016 Dec 30. J Med Genet. 2017. PMID: 28039329 Free PMC article.
A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies.
Li X, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly T, Konigsberg I, Kooperberg C, Kral BG, Li C, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari H, Vasan RS, Wang Z, Yanek LR, Yu B; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X. Li X, et al. bioRxiv [Preprint]. 2023 Nov 2:2023.10.30.564764. doi: 10.1101/2023.10.30.564764. bioRxiv. 2023. PMID: 37961350 Free PMC article. Preprint.
84 results