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2021 1
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2024 5

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Page 1
Genetics and mechanisms of thoracic aortic disease.
Chou E, Pirruccello JP, Ellinor PT, Lindsay ME. Chou E, et al. 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.
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Jurgens SJ, Choi SH, Morrill VN, Chaffin M, Pirruccello JP, Halford JL, Weng LC, Nauffal V, Roselli C, Hall AW, Oetjens MT, Lagerman B, vanMaanen DP; Regeneron Genetics Center; Aragam KG, Lunetta KL, Haggerty CM, Lubitz SA, Ellinor PT. Jurgens SJ, et al. Nat Genet. 2022 Mar;54(3):240-250. doi: 10.1038/s41588-021-01011-w. Epub 2022 Feb 17. Nat Genet. 2022. PMID: 35177841 Free PMC article.
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. Nat Commun. 2023 Dec 2;14(1):7994. doi: 10.1038/s41467-023-43851-6. Nat Commun. 2023. PMID: 38042913 Free PMC article.
Genetic analysis of right heart structure and function in 40,000 people.
Pirruccello JP, Di Achille P, Nauffal V, Nekoui M, Friedman SF, Klarqvist MDR, Chaffin MD, Weng LC, Cunningham JW, Khurshid S, Roselli C, Lin H, Koyama S, Ito K, Kamatani Y, Komuro I; BioBank Japan Project; Jurgens SJ, Benjamin EJ, Batra P, Natarajan P, Ng K, Hoffmann U, Lubitz SA, Ho JE, Lindsay ME, Philippakis AA, Ellinor PT. Pirruccello JP, et al. Nat Genet. 2022 Jun;54(6):792-803. doi: 10.1038/s41588-022-01090-3. Epub 2022 Jun 13. Nat Genet. 2022. PMID: 35697867 Free PMC article.
Genetics of myocardial interstitial fibrosis in the human heart and association with disease.
Nauffal V, Di Achille P, Klarqvist MDR, Cunningham JW, Hill MC, Pirruccello JP, Weng LC, Morrill VN, Choi SH, Khurshid S, Friedman SF, Nekoui M, Roselli C, Ng K, Philippakis AA, Batra P, Ellinor PT, Lubitz SA. Nauffal V, et al. Nat Genet. 2023 May;55(5):777-786. doi: 10.1038/s41588-023-01371-5. Epub 2023 Apr 20. Nat Genet. 2023. PMID: 37081215 Free PMC article.
Deep learning enables genetic analysis of the human thoracic aorta.
Pirruccello JP, Chaffin MD, Chou EL, Fleming SJ, Lin H, Nekoui M, Khurshid S, Friedman SF, Bick AG, Arduini A, Weng LC, Choi SH, Akkad AD, Batra P, Tucker NR, Hall AW, Roselli C, Benjamin EJ, Vellarikkal SK, Gupta RM, Stegmann CM, Juric D, Stone JR, Vasan RS, Ho JE, Hoffmann U, Lubitz SA, Philippakis AA, Lindsay ME, Ellinor PT. Pirruccello JP, et al. Nat Genet. 2022 Jan;54(1):40-51. doi: 10.1038/s41588-021-00962-4. Epub 2021 Nov 26. Nat Genet. 2022. PMID: 34837083 Free PMC article.
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.
Klarin D, Devineni P, Sendamarai AK, Angueira AR, Graham SE, Shen YH, Levin MG, Pirruccello JP, Surakka I, Karnam PR, Roychowdhury T, Li Y, Wang M, Aragam KG, Paruchuri K, Zuber V, Shakt GE, Tsao NL, Judy RL, Vy HMT, Verma SS, Rader DJ, Do R, Bavaria JE, Nadkarni GN, Ritchie MD; VA Million Veteran Program; Burgess S, Guo DC, Ellinor PT, LeMaire SA, Milewicz DM, Willer CJ, Natarajan P, Tsao PS, Pyarajan S, Damrauer SM. Klarin D, et al. Nat Genet. 2023 Jul;55(7):1106-1115. doi: 10.1038/s41588-023-01420-z. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308786 Free PMC article.
Deep learning of left atrial structure and function provides link to atrial fibrillation risk.
Pirruccello JP, Di Achille P, Choi SH, Rämö JT, Khurshid S, Nekoui M, Jurgens SJ, Nauffal V, Kany S; FinnGen; Ng K, Friedman SF, Batra P, Lunetta KL, Palotie A, Philippakis AA, Ho JE, Lubitz SA, Ellinor PT. Pirruccello JP, et al. Nat Commun. 2024 May 21;15(1):4304. doi: 10.1038/s41467-024-48229-w. Nat Commun. 2024. PMID: 38773065 Free PMC article.
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.
25 results