Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo by Zhou, J, Ng, B, Ko, NSJ, Fiedler, LR, Khin, E, Lim, A, Sahib, NE, Wu, Y, Chothani, SP, Schafer, S, Bay, B-H, Sinha, RA, Cook, SA, Yen, PM

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

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

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms by Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N

Titin-truncating variants affect heart function in disease cohorts and the general population by Schafer, S, de Marvao, A, Adami, E, Fiedler, LR, Ng, B, Khin, E, Rackham, OJL, van Heesch, S, Pua, CJ, Kui, M, Walsh, R, Tayal, U, Prasad, SK, Dawes, TJW, Ko, NSJ, Sim, D, Chan, LLH, Chin, CWL, Mazzarotto, F, Barton, PJ, Kreuchwig, F, de Kleijn, DPV, Totman, T, Biffi, C, Tee, N, Rueckert, D, Schneider, V, Faber, A, Regitz-Zagrosek, V, Seidman, JG, Seidman, CE, Linke, WA, Kovalik, J-P, O'Regan, D, Ware, JS, Hubner, N, Cook, SA