author        = "Teresa-Rodrigo, M. and Eckhold, J. and Puisac, B. and
                       Dalski, A. and Gil-Rodríguez, M.C. and Braunholz, D. and
                       Baquero, C. and Hernández-Marcos, M. and de Karam, J.C.
                       and Ciero, M. and Santos-Simarro, F. and Lapunzina, P. and
                       Wierzba, J. and Casale, C.H. and Ramos, F.J. and
                       Gillessen-Kaesbach, G. and Kaiser, F.J. and Pié, J.",
      title         = "{Functional characterization of NIPBL physiological splice
                       variants and eight splicing mutations in patients with
                       cornelia de lange syndrome}",
      year          = "2014",