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Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K. Schoenmakers E, et al. Among authors: pirruccello jp. Nat Commun. 2023 Dec 2;14(1):7994. doi: 10.1038/s41467-023-43851-6. Nat Commun. 2023. PMID: 38042913 Free PMC article.
Genetics and mechanisms of thoracic aortic disease.
Chou E, Pirruccello JP, Ellinor PT, Lindsay ME. Chou E, et al. Among authors: pirruccello jp. Nat Rev Cardiol. 2023 Mar;20(3):168-180. doi: 10.1038/s41569-022-00763-0. Epub 2022 Sep 21. Nat Rev Cardiol. 2023. PMID: 36131050 Review.
Aortic Cellular Diversity and Quantitative Genome-Wide Association Study Trait Prioritization Through Single-Nuclear RNA Sequencing of the Aneurysmal Human Aorta.
Chou EL, Chaffin M, Simonson B, Pirruccello JP, Akkad AD, Nekoui M, Lino Cardenas CL, Bedi KC Jr, Nash C, Juric D, Stone JR, Isselbacher EM, Margulies KB, Klattenhoff C, Ellinor PT, Lindsay ME. Chou EL, et al. Among authors: pirruccello jp. Arterioscler Thromb Vasc Biol. 2022 Nov;42(11):1355-1374. doi: 10.1161/ATVBAHA.122.317953. Epub 2022 Sep 29. Arterioscler Thromb Vasc Biol. 2022. PMID: 36172868 Free PMC article.
Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.
Khurshid S, Lazarte J, Pirruccello JP, Weng LC, Choi SH, Hall AW, Wang X, Friedman SF, Nauffal V, Biddinger KJ, Aragam KG, Batra P, Ho JE, Philippakis AA, Ellinor PT, Lubitz SA. Khurshid S, et al. Among authors: pirruccello jp. Nat Commun. 2023 Mar 21;14(1):1558. doi: 10.1038/s41467-023-37173-w. Nat Commun. 2023. PMID: 36944631 Free PMC article.
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Halford JL, et al. Among authors: pirruccello jp. Nat Commun. 2022 Aug 30;13(1):5106. doi: 10.1038/s41467-022-32009-5. Nat Commun. 2022. PMID: 36042188 Free PMC article.
Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Halford JL, et al. Among authors: pirruccello jp. Nat Commun. 2022 Sep 30;13(1):5767. doi: 10.1038/s41467-022-33534-z. Nat Commun. 2022. PMID: 36180445 Free PMC article. No abstract available.
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. 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.
77 results