@article{guissart:hal-01796580,
TITLE = {Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia},
AUTHOR = {Guissart, Claire and Latypova, Xenia and Rollier, Paul and Khan, Tahir and Stamberger, Hannah and Mcwalter, Kirsty and Cho, Megan and Kjaergaard, Susanne and Weckhuysen, Sarah and Lesca, Gaetan and Besnard, Thomas and Ounap, Katrin and Schema, Lynn and Chiocchetti, Andreas G. and Mcdonald, Marie and de Bellescize, Julitta and Vincent, Marie and van Esch, Hilde and Sattler, Shannon and Forghani, Irman and Thiffault, Isabelle and Freitag, Christine M. and Barbouth, Deborah Sara and Cadieux-Dion, Maxime and Willaert, Rebecca and Guillen Sacoto, Maria and Safina, Nicole and Dubourg, Christ{\`e}le and Grote, Lauren and Carr{\'e},
Wilfrid and Saunders, Carol and Pajusalu, Sander and Farrow, Emily and Boland, Anne and Karlowicz, Danielle Hays and Deleuze, Jean-Fran{\c c}ois and Wojcik, Monica and Pressman, Rena and Isidor, Bertrand and Vogels, Annick and van Paesschen, Wim and Al-Gazali, Lihadh and Al Shamsi, Aisha Mohamed and Claustres, Mireille and Pujol, Aurora and Sanders, Stephan and Rivier, Francois and Leboucq, Nicolas and Cogn{\'e},
Benjamin and Sasorith, Souphatta and Sanlaville, Damien and Retterer, Kyle and Odent, Sylvie and Katsanis, Nicholas and B{\'e}zieau, Stephane and Koenig, Michel and Davis, Erica and Pasquier, Laurent and K{\"u}ry, S{\'e}bastien},
URL = {https://hal.umontpellier.fr/hal-01796580},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {102},
NUMBER = {5},
PAGES = {744 - 759},
YEAR = {2018},
MONTH = May, DOI = {10.1016/j.ajhg.2018.02.021},
KEYWORDS = {epilepsy ; cerebellar ataxia ; neurodevelopmental disorder ; dual molecular effects ; autistic features ; RORA ; intellectual disability},
PDF = {https://hal.umontpellier.fr/hal-01796580/file/Guissart_Dual%20molecular%20effects%20of%20dominant%20RORA%20mutations.pdf},
HAL_ID = {hal-01796580},
HAL_VERSION = {v1},
}