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544 results

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Page 1
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Einson J, et al. Among authors: ellinor p. Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115. Genetics. 2023. PMID: 37348055
Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Apr;616(7958):747-754. doi: 10.1038/s41586-023-05857-4. Epub 2023 Apr 12. Nature. 2023. PMID: 37046084 Free PMC article.
Treatment of calcific arterial disease via enhancement of autophagy using GSK343.
Lino Cardenas CL, Jiang W, Kajuluri LP, Singh K, Ostrom K, Li R, Cherbonneau F, Boerboom S, Birchenough C, Roh K, Chou EL, Shahrooz Z, Nicholson C, Johnson AL, Lee S, Ichinose F, Bloch DB, Nigwekar S, Ellinor PT, Musolino P, Lindsay ME, Dou Z, Miller CL, Malhotra R. Lino Cardenas CL, et al. Among authors: ellinor pt. iScience. 2023 Oct 29;26(11):108360. doi: 10.1016/j.isci.2023.108360. eCollection 2023 Nov 17. iScience. 2023. PMID: 38033629 Free PMC article.
Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.
van der Voorn SM, van Drie E, Proost V, Dimitrova K, Netherlands Acm/Pln Registry, Ernst RF, James CA, Tichnell C, Murray B, Calkins H, Saguner AM, Duru F, Ellinor PT, Bezzina CR, Jurgens SJ, van Tintelen JP, van Veen TAB. van der Voorn SM, et al. Int J Mol Sci. 2023 Nov 3;24(21):15931. doi: 10.3390/ijms242115931. Int J Mol Sci. 2023. PMID: 37958923 Free PMC article.
Natural Language Processing for Adjudication of Heart Failure in a Multicenter Clinical Trial: A Secondary Analysis of a Randomized Clinical Trial.
Cunningham JW, Singh P, Reeder C, Claggett B, Marti-Castellote PM, Lau ES, Khurshid S, Batra P, Lubitz SA, Maddah M, Philippakis A, Desai AS, Ellinor PT, Vardeny O, Solomon SD, Ho JE. Cunningham JW, et al. Among authors: ellinor pt. JAMA Cardiol. 2024 Feb 1;9(2):174-181. doi: 10.1001/jamacardio.2023.4859. JAMA Cardiol. 2024. PMID: 37950744
The Genetic Determinants of Aortic Distention.
Pirruccello JP, Rämö JT, Choi SH, Chaffin MD, Kany S, Nekoui M, Chou EL, Jurgens SJ, Friedman SF, Juric D, Stone JR, Batra P, Ng K, Philippakis AA, Lindsay ME, Ellinor PT. Pirruccello JP, et al. Among authors: ellinor pt. J Am Coll Cardiol. 2023 Apr 11;81(14):1320-1335. doi: 10.1016/j.jacc.2023.01.044. J Am Coll Cardiol. 2023. PMID: 37019578 Free article.
Novel Polygenic Risk Score and Established Clinical Risk Factors for Risk Estimation of Aortic Stenosis.
Small AM, Melloni GEM, Kamanu FK, Bergmark BA, Bonaca MP, O'Donoghue ML, Giugliano RP, Scirica BM, Bhatt D, Antman EM, Raz I, Wiviott SD, Truong B, Wilson PWF, Cho K, O'Donnell CJ, Braunwald E, Lubitz SA, Ellinor P, Peloso GM, Ruff CT, Sabatine MS, Natarajan P, Marston NA. Small AM, et al. Among authors: ellinor p. JAMA Cardiol. 2024 Apr 1;9(4):357-366. doi: 10.1001/jamacardio.2024.0011. JAMA Cardiol. 2024. PMID: 38416462 Clinical Trial.
Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.
Rämö JT, Abner E, van Dijk EHC, Wang X, Brinks J, Nikopensius T, Nõukas M, Marjonen H, Silander K, Jukarainen S, Kiiskinen T, Choi SH, Kajanne R, Mehtonen J, Palta P, Lubitz SA, Kaarniranta K, Sobrin L, Kurki M, Yzer S, Ellinor PT, Esko T, Daly MJ, den Hollander AI, Palotie A, Turunen JA, Boon CJF, Rossin EJ; FinnGen Study; Estonian Biobank Research Team. Rämö JT, et al. Among authors: ellinor pt. JAMA Ophthalmol. 2023 May 1;141(5):449-457. doi: 10.1001/jamaophthalmol.2023.0706. JAMA Ophthalmol. 2023. PMID: 37079300 Free PMC article.
544 results