@article{kury:hal-01478814,
TITLE = {De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder},
AUTHOR = {K{\"u}ry, S{\'e}bastien and Besnard, Thomas and Ebstein, Fr{\'e}d{\'e}ric and Khan, Tahir N. and Gambin, Tomasz and Douglas, Jessica and Bacino, Carlos A. and Craigen, William J and Sanders, Stephan J. and Lehmann, Andrea and Latypova, Xenia and Khan, Kamal and Pacault, Mathilde and Sacharow, Stephanie and Glaser, Kimberly and Bieth, Eric and Perrin-Sabourin, Laurence and Jacquemont, Marie-Line and Cho, Megan T. and Roeder, Elizabeth and Denomm{\'e}-Pichon, Anne-Sophie and Monaghan, Kristin G. and Yuan, Bo and Xia, Fan and Simon, Sylvain and Bonneau, Dominique and Parent, Philippe and Gilbert-Dussardier, Brigitte and Odent, Sylvie and Toutain, Annick and Pasquier, Laurent and Barbouth, Deborah and Shaw, Chad A. and Patel, Ankita and Smith, Janice L. and Bi, Weimin and Schmitt, S{\'e}bastien and Deb, Wallid and Nizon, Mathilde and Mercier, Sandra and Vincent, Marie and Rooryck, Caroline and Malan, Val{\'e}rie and Briceno, Ignacio and G{\'o}mez, Alberto and Nugent, Kimberly M. and Gibson, James B. and Cogn{\'e},
Benjamin and Lupski, James R. and Stessman, Holly A. F. and Eichler, Evan E. and Retterer, Kyle and Yang, Yaping and Redon, Richard and Katsanis, Nicholas and Rosenfeld, Jill A. and Kloetzel, Peter-Michael and Golzio, Christelle and B{\'e}zieau, St{\'e}phane and Stankiewicz, Pawel and Isidor, Bertrand},
URL = {https://univ-rennes.hal.science/hal-01478814},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {100},
NUMBER = {2},
PAGES = {352-363},
YEAR = {2017},
MONTH = Feb, DOI = {10.1016/j.ajhg.2017.01.003},
KEYWORDS = {PSMD12 ; RPN5 ; proteasome 26S ; intellectual disability ; syndromic neurodevelopmental disorder ; ubiquitin ; PSMD12},
PDF = {https://univ-rennes.hal.science/hal-01478814/file/main.pdf},
HAL_ID = {hal-01478814},
HAL_VERSION = {v1},
}