Publication
MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL
Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, Valerie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano Ramos, Thomas Schwarzmayr, Thomas van Staveren, Wilfred F. J. van IJcken, Tim M. Strom, Juan Pié, Erwan Watrin, Frank J. Kaiser, Kerstin S. Wendt
December 2018, Cold Spring Harbor Laboratory Press
DOI: 10.1101/477752