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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. Among authors: cook sa. 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.
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Domínguez F, et al. J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181. J Am Coll Cardiol. 2018. PMID: 30442290 Free PMC article.
Sacubitril/valsartan versus valsartan in regressing myocardial fibrosis in hypertension: a prospective, randomized, open-label, blinded endpoint clinical trial protocol.
Lee V, Zheng Q, Toh DF, Pua CJ, Bryant JA, Lee CH, Cook SA, Butler J, Díez J, Richards AM, Le TT, Chin CWL. Lee V, et al. Among authors: cook sa. Front Cardiovasc Med. 2023 Aug 22;10:1248468. doi: 10.3389/fcvm.2023.1248468. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37674806 Free PMC article.
Sex Differences in the Clinical Presentation and Natural History of Dilated Cardiomyopathy.
Owen R, Buchan R, Frenneaux M, Jarman JWE, Baruah R, Lota AS, Halliday BP, Roberts AM, Izgi C, Van Spall HGC, Michos ED, McMurray JJV, Januzzi JL, Pennell DJ, Cook SA, Ware JS, Barton PJ, Gregson J, Prasad SK, Tayal U. Owen R, et al. Among authors: cook sa. JACC Heart Fail. 2024 Feb;12(2):352-363. doi: 10.1016/j.jchf.2023.10.009. Epub 2023 Nov 29. JACC Heart Fail. 2024. PMID: 38032570 Free PMC article.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
The Singapore National Precision Medicine Strategy.
Wong E, Bertin N, Hebrard M, Tirado-Magallanes R, Bellis C, Lim WK, Chua CY, Tong PML, Chua R, Mak K, Lim TM, Cheong WY, Thien KE, Goh KT, Chai JF, Lee J, Sung JJ, Wong TY, Chin CWL, Gluckman PD, Goh LL, Ban KHK, Tan TW; SG10K_Health Consortium; Sim X, Cheng CY, Davila S, Karnani N, Leong KP, Liu J, Prabhakar S, Maurer-Stroh S, Verma CS, Krishnaswamy P, Goh RSM, Chia I, Ho C, Low D, Virabhak S, Yong J, Zheng W, Seow SW, Seck YK, Koh M, Chambers JC, Tai ES, Tan P. Wong E, et al. Nat Genet. 2023 Feb;55(2):178-186. doi: 10.1038/s41588-022-01274-x. Epub 2023 Jan 19. Nat Genet. 2023. PMID: 36658435 Review.
Cardiac myocyte apoptosis.
Cook SA, Poole-Wilson PA. Cook SA, et al. Eur Heart J. 1999 Nov;20(22):1619-29. doi: 10.1053/euhj.1999.1548. Eur Heart J. 1999. PMID: 10543925 Review. No abstract available.
353 results