@article{parenti:hal-02862830,
TITLE = {MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome},
AUTHOR = {Parenti, I. and Diab, F. and Gil, S.R. and Mulugeta, E. and Casa, V. and Berutti, R. and Brouwer, R.W.W. and Dupe, V. and Eckhold, J. and Graf, E. and Puisac, B. and Ramos, F. and Schwarzmayr, T. and Gines, M.M. and van Staveren, T. and van Ijcken, W.F.J. and Strom, T.M. and Pie, J. and Watrin, Erwan and Kaiser, F.J. and Wendt, K.S.},
URL = {https://univ-rennes.hal.science/hal-02862830},
JOURNAL = {Cell Reports},
PUBLISHER = {Elsevier Inc},
VOLUME = {31},
NUMBER = {7},
PAGES = {107647},
YEAR = {2020},
MONTH = May, DOI = {10.1016/j.celrep.2020.107647},
KEYWORDS = {ChIP sequencing ; cohesin ; cohesinopathy ; Cornelia de Lange syndrome ; CRISPR-Cas9 ; MAU2 ; NIPBL ; rescue mechanism ; transcriptomopathy},
PDF = {https://univ-rennes.hal.science/hal-02862830/file/hal-02862830.pdf},
HAL_ID = {hal-02862830},
HAL_VERSION = {v1},
}