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215 results

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Page 1
Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program.
Brunette CA, Yi T, Danowski ME, Cardellino M, Harrison A, Assimes TL, Knowles JW, Christensen KD, Sturm AC, Sun YV, Hui Q, Pyarajan S, Shi Y, Whitbourne SB, Gaziano JM, Muralidhar S, Vassy JL. Brunette CA, et al. Among authors: knowles jw. JAMIA Open. 2024 Mar 8;7(1):ooae020. doi: 10.1093/jamiaopen/ooae020. eCollection 2024 Apr. JAMIA Open. 2024. PMID: 38464744 Free PMC article.
A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes.
Saliba-Gustafsson P, Justesen JM, Ranta A, Sharma D, Bielczyk-Maczynska E, Li J, Najmi LA, Apodaka M, Aspichueta P, Björck HM, Eriksson P, Franco-Cereceda A, Gloudemans M, Mujica E, den Hoed M, Assimes TL, Quertermous T, Carcamo-Orive I, Park CY, Knowles JW. Saliba-Gustafsson P, et al. Among authors: knowles jw. medRxiv [Preprint]. 2024 Feb 4:2024.02.03.24302258. doi: 10.1101/2024.02.03.24302258. medRxiv. 2024. PMID: 38352379 Free PMC article. Preprint.
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, Pers TH, Johnson AD, Ko YA, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AK, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tonjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun GA, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann HE, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, Leach IM, Ford I,… See abstract for full author list ➔ Pattaro C, et al. Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023. Nat Commun. 2016. PMID: 26831199 Free PMC article.
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson Å, Rudan I, Aulchenko YS, Kirichenko AV, Janssens AC, Jansen RC, Gnewuch C, Domingues FS, Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman A, Karssen LC, Struchalin M, Floyd J, Igl W, Biloglav Z, Broer L, Pfeufer A, Pichler I, Campbell S, Zaboli G, Kolcic I, Rivadeneira F, Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart V; DIAGRAM Consortium; Nelson CP, Preuss M; CARDIoGRAM Consortium; Bis JC, O'Donnell CJ, Franceschini N; CHARGE Consortium; Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward C, Wright AF, Gyllensten U, Campbell H, Schmitz G; EUROSPAN consortium. Demirkan A, et al. PLoS Genet. 2012;8(2):e1002490. doi: 10.1371/journal.pgen.1002490. Epub 2012 Feb 16. PLoS Genet. 2012. PMID: 22359512 Free PMC article.
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Reiner AP, Hartiala J, Zeller T, Bis JC, Dupuis J, Fornage M, Baumert J, Kleber ME, Wild PS, Baldus S, Bielinski SJ, Fontes JD, Illig T, Keating BJ, Lange LA, Ojeda F, Müller-Nurasyid M, Munzel TF, Psaty BM, Rice K, Rotter JI, Schnabel RB, Tang WH, Thorand B, Erdmann J; CARDIoGRAM Consortium; Jacobs DR Jr, Wilson JG, Koenig W, Tracy RP, Blankenberg S, März W, Gross MD, Benjamin EJ, Hazen SL, Allayee H. Reiner AP, et al. Hum Mol Genet. 2013 Aug 15;22(16):3381-93. doi: 10.1093/hmg/ddt189. Epub 2013 Apr 24. Hum Mol Genet. 2013. PMID: 23620142 Free PMC article.
Mining the human phenome using allelic scores that index biological intermediates.
Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafò M, Whitfield JB, Medland SE, Montgomery GW; GIANT Consortium; CRP Consortium; TAG Consortium; Timpson NJ, St Pourcain B, Lawlor DA, Martin NG, Dehghan A, Hirschhorn J, Smith GD. Evans DM, et al. PLoS Genet. 2013 Oct;9(10):e1003919. doi: 10.1371/journal.pgen.1003919. Epub 2013 Oct 31. PLoS Genet. 2013. PMID: 24204319 Free PMC article.
Genetic predisposition to higher blood pressure increases coronary artery disease risk.
Lieb W, Jansen H, Loley C, Pencina MJ, Nelson CP, Newton-Cheh C, Kathiresan S, Reilly MP, Assimes TL, Boerwinkle E, Hall AS, Hengstenberg C, Laaksonen R, McPherson R, Thorsteinsdottir U, Ziegler A, Peters A, Thompson JR, König IR, Erdmann J, Samani NJ, Vasan RS, Schunkert H; CARDIoGRAM. Lieb W, et al. Hypertension. 2013 May;61(5):995-1001. doi: 10.1161/HYPERTENSIONAHA.111.00275. Epub 2013 Mar 11. Hypertension. 2013. PMID: 23478099 Free PMC article.
Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Brænne I, Nöthen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, Li SC, März W, Reilly M, Kathiresan S, McPherson R, Walter U; CARDIoGRAM; Ott J, Samani NJ, Strom TM, Meitinger T, Hengstenberg C, Schunkert H. Erdmann J, et al. Nature. 2013 Dec 19;504(7480):432-6. doi: 10.1038/nature12722. Epub 2013 Nov 10. Nature. 2013. PMID: 24213632
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
Lu X, Wang L, Chen S, He L, Yang X, Shi Y, Cheng J, Zhang L, Gu CC, Huang J, Wu T, Ma Y, Li J, Cao J, Chen J, Ge D, Fan Z, Li Y, Zhao L, Li H, Zhou X, Chen L, Liu D, Chen J, Duan X, Hao Y, Wang L, Lu F, Liu Z, Yao C, Shen C, Pu X, Yu L, Fang X, Xu L, Mu J, Wu X, Zheng R, Wu N, Zhao Q, Li Y, Liu X, Wang M, Yu D, Hu D, Ji X, Guo D, Sun D, Wang Q, Yang Y, Liu F, Mao Q, Liang X, Ji J, Chen P, Mo X, Li D, Chai G, Tang Y, Li X, Du Z, Liu X, Dou C, Yang Z, Meng Q, Wang D, Wang R, Yang J, Schunkert H, Samani NJ, Kathiresan S, Reilly MP, Erdmann J; Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Consortium; Peng X, Wu X, Liu D, Yang Y, Chen R, Qiang B, Gu D. Lu X, et al. Nat Genet. 2012 Jul 1;44(8):890-4. doi: 10.1038/ng.2337. Nat Genet. 2012. PMID: 22751097 Free PMC article.
The shared allelic architecture of adiponectin levels and coronary artery disease.
Dastani Z, Johnson T, Kronenberg F, Nelson CP, Assimes TL, März W; CARDIoGRAM Consortium; ADIPOGen Consortium; Richards JB. Dastani Z, et al. Atherosclerosis. 2013 Jul;229(1):145-8. doi: 10.1016/j.atherosclerosis.2013.03.034. Epub 2013 Apr 22. Atherosclerosis. 2013. PMID: 23664276 Free PMC article.
215 results