Journal of Medical Genetics, 53(8), 548-558. BMJ Publishing Group Fackenthal, J D, Yoshimatsu, T, Zhang, B, de Garibay, G R, Colombo, M, De Vecchi, G, Ayoub, S C, Lal, K, Olopade, O I, Vega, A, Santamariña, M, Blanco, A, Wappenschmidt, B, Becker, A, Houdayer, C, Walker, L C, López-Perolio, I, Thomassen, M, Parsons, M, Whiley, P, Blok, M J, Brandão, R D, Tserpelis, D, Baralle, D, Montalban, G, Gutiérrez-Enríquez, S, Díez, O, Lázaro, C, Spurdle, A B, Radice, P, de la Hoya, M & kConFab Investigators 2016, ' Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples ', Journal of Medical Genetics, vol. 53, no. 8, pp. 548-558 . https://doi.org/10.1136/jmedgenet-2015-103570