@article{denhoed:hal-03268683,
TITLE = {Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction},
AUTHOR = {den Hoed, Joery and de Boer, Elke and Voisin, Norine and Dingemans, Alexander J.M. and Guex, Nicolas and Wiel, Laurens and Nellaker, Christoffer and Amudhavalli, Shivarajan and Banka, Siddharth and Bena, Frederique and Ben-Zeev, Bruria and Bonagura, Vincent and Bruel, Ange-Line and Brunet, Theresa and Brunner, Han and Chew, Hui and Chrast, Jacqueline and Cimbalistienė, Loreta and Coon, Hilary and D{\'e}lot, Emmanu{\`e}lle and D{\'e}murger, Florence and Denomm{\'e}-Pichon, Anne-Sophie and Depienne, Christel and Donnai, Dian and Dyment, David and Elpeleg, Orly and Faivre, Laurence and Gilissen, Christian and Granger, Leslie and Haber, Benjamin and Hachiya, Yasuo and Abedi, Yasmin Hamzavi and Hanebeck, Jennifer and Hehir-Kwa, Jayne and Horist, Brooke and Itai, Toshiyuki and Jackson, Adam and Jewell, Rosalyn and Jones, Kelly and Joss, Shelagh and Kashii, Hirofumi and Kato, Mitsuhiro and Kattentidt-Mouravieva, Anja and Kok, Fernando and Kotzaeridou, Urania and Krishnamurthy, Vidya and Ku{\v c}inskas, Vaidutis and Kuechler, Alma and Lavillaureix, Alino{\"e} and Liu, Pengfei and Manwaring, Linda and Matsumoto, Naomichi and Mazel, Beno{\^i}t and Mcwalter, Kirsty and Meiner, Vardiella and Mikati, Mohamad and Miyatake, Satoko and Mizuguchi, Takeshi and Moey, Lip and Mohammed, Shehla and Mor-Shaked, Hagar and Mountford, Hayley and Newbury-Ecob, Ruth and Odent, Sylvie and Orec, Laura and Osmond, Matthew and Palculict, Timothy and Parker, Michael and Petersen, Andrea and Pfundt, Rolph and Preik{\v s}aitienė, Eglė and Radtke, Kelly and Ranza, Emmanuelle and Rosenfeld, Jill and Santiago-Sim, Teresa and Schwager, Caitlin and Sinnema, Margje and Snijders Blok, Lot and Spillmann, Rebecca and Stegmann, Alexander P.A. and Thiffault, Isabelle and Tran, Linh and Vaknin-Dembinsky, Adi and Vedovato-Dos-Santos, Juliana and Schrier Vergano, Samantha and Vilain, Eric and Vitobello, Antonio and Wagner, Matias and Waheeb, Androu and Willing, Marcia and Zuccarelli, Britton and Kini, Usha and Newbury, Dianne and Kleefstra, Tjitske and Reymond, Alexandre and Fisher, Simon and Vissers, Lisenka E.L.M.},
URL = {https://univ-rennes.hal.science/hal-03268683},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {108},
NUMBER = {2},
PAGES = {346-356},
YEAR = {2021},
MONTH = Feb, DOI = {10.1016/j.ajhg.2021.01.007},
KEYWORDS = {SATB1 ; de novo variants ; neurodevelopmental disorders ; intellectual disability ; seizures ; teeth abnormalities ; HPO-based analysis ; cell-based functional assays},
HAL_ID = {hal-03268683},
HAL_VERSION = {v1},
}