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Page 1
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R. Mazzarotto F, et al. Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983221 Free PMC article.
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.
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.
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP. Curran L, et al. Circ Genom Precis Med. 2023 Dec;16(6):e004200. doi: 10.1161/CIRCGEN.123.004200. Epub 2023 Nov 28. Circ Genom Precis Med. 2023. PMID: 38014537 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.
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.
Siguero-Álvarez M, Salguero-Jiménez A, Grego-Bessa J, de la Barrera J, MacGrogan D, Prados B, Sánchez-Sáez F, Piñeiro-Sabarís R, Felipe-Medina N, Torroja C, Gómez MJ, Sabater-Molina M, Escribá R, Richaud-Patin I, Iglesias-García O, Sbroggio M, Callejas S, O'Regan DP, McGurk KA, Dopazo A, Giovinazzo G, Ibañez B, Monserrat L, Pérez-Pomares JM, Sánchez-Cabo F, Pendas AM, Raya A, Gimeno-Blanes JR, de la Pompa JL. Siguero-Álvarez M, et al. Circulation. 2023 Jan 3;147(1):47-65. doi: 10.1161/CIRCULATIONAHA.121.058767. Epub 2022 Nov 3. Circulation. 2023. PMID: 36325906 Free 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.
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F, Hawley MH, Beltrami M, Beekman L, de Marvao A, McGurk KA, Statton B, Boschi B, Girolami F, Roberts AM, Lodder EM, Allouba M, Romeih S, Aguib Y, Baksi AJ, Pantazis A, Prasad SK, Cerbai E, Yacoub MH, O'Regan DP, Cook SA, Ware JS, Funke B, Olivotto I, Bezzina CR, Barton PJR, Walsh R. Mazzarotto F, et al. Genet Med. 2021 May;23(5):856-864. doi: 10.1038/s41436-020-01049-x. Epub 2021 Jan 26. Genet Med. 2021. PMID: 33500567 Free PMC article.
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Müller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Völker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanché H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dörr M, Asselbergs FW, Villard E, Trégouët DA, Charron P. Garnier S, et al. Eur Heart J. 2021 May 21;42(20):2000-2011. doi: 10.1093/eurheartj/ehab030. Eur Heart J. 2021. PMID: 33677556 Free PMC article.
Environmental and genetic predictors of human cardiovascular ageing.
Shah M, de A Inácio MH, Lu C, Schiratti PR, Zheng SL, Clement A, de Marvao A, Bai W, King AP, Ware JS, Wilkins MR, Mielke J, Elci E, Kryukov I, McGurk KA, Bender C, Freitag DF, O'Regan DP. Shah M, et al. Nat Commun. 2023 Aug 21;14(1):4941. doi: 10.1038/s41467-023-40566-6. Nat Commun. 2023. PMID: 37604819 Free PMC article.
33 results