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2019 1
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Page 1
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS. McGurk KA, et al. Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30. Am J Hum Genet. 2023. PMID: 37652022 Free PMC article.
Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension.
Harbaum L, Rhodes CJ, Wharton J, Lawrie A, Karnes JH, Desai AA, Nichols WC, Humbert M, Montani D, Girerd B, Sitbon O, Boehm M, Novoyatleva T, Schermuly RT, Ghofrani HA, Toshner M, Kiely DG, Howard LS, Swietlik EM, Gräf S, Pietzner M, Morrell NW, Wilkins MR; U.K. National Institute for Health Research BioResource Rare Diseases Consortium, U.K. Pulmonary Arterial Hypertension Cohort Study Consortium, and U.S. Pulmonary Arterial Hypertension Biobank Consortium. Harbaum L, et al. Am J Respir Crit Care Med. 2022 Jun 15;205(12):1449-1460. doi: 10.1164/rccm.202109-2106OC. Am J Respir Crit Care Med. 2022. PMID: 35394406 Free PMC article.
A population-based phenome-wide association study of cardiac and aortic structure and function.
Bai W, Suzuki H, Huang J, Francis C, Wang S, Tarroni G, Guitton F, Aung N, Fung K, Petersen SE, Piechnik SK, Neubauer S, Evangelou E, Dehghan A, O'Regan DP, Wilkins MR, Guo Y, Matthews PM, Rueckert D. Bai W, et al. Nat Med. 2020 Oct;26(10):1654-1662. doi: 10.1038/s41591-020-1009-y. Epub 2020 Aug 24. Nat Med. 2020. PMID: 32839619 Free PMC article.
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG, van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider-Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR. Tadros R, et al. Nat Genet. 2021 Feb;53(2):128-134. doi: 10.1038/s41588-020-00762-2. Epub 2021 Jan 25. Nat Genet. 2021. PMID: 33495596 Free PMC article.
Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature.
Zekavat SM, Raghu VK, Trinder M, Ye Y, Koyama S, Honigberg MC, Yu Z, Pampana A, Urbut S, Haidermota S, O'Regan DP, Zhao H, Ellinor PT, Segrè AV, Elze T, Wiggs JL, Martone J, Adelman RA, Zebardast N, Del Priore L, Wang JC, Natarajan P. Zekavat SM, et al. Circulation. 2022 Jan 11;145(2):134-150. doi: 10.1161/CIRCULATIONAHA.121.057709. Epub 2021 Nov 8. Circulation. 2022. PMID: 34743558 Free PMC article.
172 results