@article{cappuccio:hal-02928068,
TITLE = {De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides--Baraitser syndrome},
AUTHOR = {Cappuccio, Gerarda and Sayou, Camille and Tanno, Pauline Le and Tisserant, Emilie and Bruel, Ange-Line and Kennani, Sara El and S{\'a},
Joaquim and Low, Karen and Dias, Cristina and Havlovicova, Marketa and Han{\v c}{\'a}rov{\'a},
Miroslava and Eichler, Evan and Devillard, Fran{\c c}oise and Moutton, S{\'e}bastien and Van-Gils, Julien and Dubourg, Christ{\`e}le and Odent, Sylvie and G{\'e}rard, B{\'e}n{\'e}dicte and Piton, Am{\'e}lie and Yamamoto, Toshiyuki and Okamoto, Nobuhiko and Firth, Helen and Metcalfe, Kay and Moh, Anna and Chapman, Kimberly and Aref-Eshghi, Erfan and Kerkhof, Jennifer and Torella, Annalaura and Nigro, Vincenzo and Perrin, Laurence and Piard, Juliette C and Le Guyader, Gwena{\"e}l and Jouan, Thibaud and Thauvin-Robinet, Christel and Duffourd, Yannis and George-Abraham, Jaya and Buchanan, Catherine and Williams, Denise and Kini, Usha and Wilson, Kate and Sousa, S{\'e}rgio and Hennekam, Raoul C M and Sadikovic, Bekim and Thevenon, Julien and Govin, J{\'e}r{\^o}me and Vitobello, Antonio and Brunetti-Pierri, Nicola},
URL = {https://univ-rennes.hal.science/hal-02928068},
JOURNAL = {Genetics in Medicine},
PUBLISHER = {Nature Publishing Group},
VOLUME = {22},
NUMBER = {11},
PAGES = {1838-1850},
YEAR = {2020},
MONTH = Nov, DOI = {10.1038/s41436-020-0898-y},
KEYWORDS = {BIS ; Nicolaides--Baraitser syndrome ; SMARCA2 ; intellectual disability ; neurodevelopmental disorder},
HAL_ID = {hal-02928068},
HAL_VERSION = {v1},
}