@article{parenti:hal-01117251, TITLE = {{Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype}}, AUTHOR = {Parenti, Ilaria and Gervasini, Cristina and Pozojevic, Jelena and Graul-Neumann, Luitgard and Azzollini, Jacopo and Braunholz, Diana and Watrin, Erwan and Wendt, Kerstin S. and Cereda, Anna and Cittaro, Davide and Gillessen-Kaesbach, Gabriele and Lazarevic, Dejan and Mariani, Milena and Russo, Silvia and Werner, Ralf and Krawitz, Peter and Larizza, Lidia and Selicorni, Angelo and Kaiser, Frank J.}, URL = {https://univ-rennes.hal.science/hal-01117251}, JOURNAL = {{Clinical Epigenetics}}, PUBLISHER = {{BioMed Central}}, VOLUME = {89}, NUMBER = {1}, PAGES = {74--81}, YEAR = {2016}, MONTH = Jan, DOI = {10.1111/cge.12564}, KEYWORDS = {ANKRD11 ; cohesin ; Cornelia de Lange syndrome ; KBG syndrome ; mosaicism ; whole exome sequencing}, PDF = {https://univ-rennes.hal.science/hal-01117251/file/Broadening%20of%20cohesinopathies_accepted.pdf}, HAL_ID = {hal-01117251}, HAL_VERSION = {v1}, }