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Page 1
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.
Lahrouchi N, Raju H, Lodder EM, Papatheodorou S, Miles C, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen M, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Sheppard MN, Bezzina CR, Behr ER. Lahrouchi N, et al. Among authors: pua cj. Eur J Hum Genet. 2020 Jan;28(1):17-22. doi: 10.1038/s41431-019-0500-8. Epub 2019 Sep 18. Eur J Hum Genet. 2020. PMID: 31534214 Free PMC article.
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.
Lahrouchi N, Raju H, Lodder EM, Papatheodorou E, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen MC, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Bezzina CR, Sheppard MN, Behr ER. Lahrouchi N, et al. Among authors: pua cj. J Am Coll Cardiol. 2017 May 2;69(17):2134-2145. doi: 10.1016/j.jacc.2017.02.046. J Am Coll Cardiol. 2017. PMID: 28449774 Free PMC article.
Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N, Cook SA. Schafer S, et al. Among authors: pua cj. Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869827 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. Among authors: pua cj. 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.
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: pua cj. 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.
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: pua cj. 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.
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.
30 results