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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.
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 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.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, West DM, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AM, Walsh R, Amin AS, van Slegtenhorst MA, Roslin N, Strug LJ, Salvi E, Lanzani C, de Marvao A; Hypergenes InterOmics Collaborators; Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Pinto YM, Rakowski H, Pantazis A, Baksi J, Halliday BP, Prasad SK, Barton PJ, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Matthews PM, Wilde AA, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H. Tadros R, et al. medRxiv [Preprint]. 2023 Feb 6:2023.01.28.23285147. doi: 10.1101/2023.01.28.23285147. medRxiv. 2023. PMID: 36778260 Free PMC article. Preprint.
Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.
Ochoa JP, Lalaguna L, Mirelis JG, Dominguez F, Gonzalez-Lopez E, Salas C, Roustan G, McGurk KA, Zheng SL, Barton PJR, Ware JS, Gómez-Gaviro MV, Lara-Pezzi E, Garcia-Pavia P. Ochoa JP, et al. Circ Heart Fail. 2024 Mar;17(3):e011226. doi: 10.1161/CIRCHEARTFAILURE.123.011226. Epub 2024 Mar 4. Circ Heart Fail. 2024. PMID: 38436102 Free PMC article. No abstract available.