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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy by Walsh, R, Mazzarotto, F, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Li, N, Felkin, L, Ingold, N, Govind, R, Ahmad, M, Mazaika, E, Allouba, M, Zhang, X, De Marvao, A, Day, SM, Ashley, E, Colan, SD, Michels, M, Pereira, AC, Jacoby, D, Ho, CY, Thomson, KL, Watkins, H, Barton, PJR, Olivotto, I, Cook, SA, Ware, JS
Published 2019Journal article -
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Reevaluating the genetic contribution of monogenic dilated cardiomyopathy by 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, LHL, 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
Published 2020Journal article