@article{kury:hal-03790515,
TITLE = {Rare pathogenic variants in WNK3 cause X-linked intellectual disability},
AUTHOR = {K{\"u}ry, S{\'e}bastien and Zhang, Jinwei and Besnard, Thomas and Caro-Llopis, Alfonso and Zeng, Xue and Robert, Stephanie and Josiah, Sunday and Kiziltug, Emre and Denomm{\'e}-Pichon, Anne-Sophie and Cogn{\'e},
Benjamin and Kundishora, Adam and Hao, Le and Li, Hong and Stevenson, Roger and Louie, Raymond and Deb, Wallid and Torti, Erin and Vignard, Virginie and Mcwalter, Kirsty and Raymond, F Lucy and Rajabi, Farrah and Ranza, Emmanuelle and Grozeva, Detelina and Coury, Stephanie and Blanc, Xavier and Brischoux-Boucher, Elise and Keren, Boris and Õunap, Katrin and Reinson, Karit and Ilves, Pilvi and Wentzensen, Ingrid and Barr, Eileen and Guihard, Solveig Heide and Charles, Perrine and Seaby, Eleanor and Monaghan, Kristin and Rio, Marl{\`e}ne and van Bever, Yolande and van Slegtenhorst, Marjon and Chung, Wendy and Wilson, Ashley and Quinquis, Delphine and Br{\'e}h{\'e}ret, Flora and Retterer, Kyle and Lindenbaum, Pierre and Scalais, Emmanuel and Rhodes, Lindsay and Stouffs, Katrien and Pereira, Elaine and Berger, Sara and Milla, Sarah and Jaykumar, Ankita and Cobb, Melanie and Panchagnula, Shreyas and Duy, Phan and Vincent, Marie and Mercier, Sandra and Gilbert-Dussardier, Brigitte and Le Guillou, Xavier and Audebert-Bellanger, S{\'e}verine and Odent, Sylvie and Schmitt, S{\'e}bastien and Boisseau, Pierre and Bonneau, Dominique and Toutain, Annick and Colin, Estelle and Pasquier, Laurent and Redon, Richard and Bouman, Arjan and Rosenfeld, Jill and Friez, Michael and P{\'e}rez-Pe{\~n}a, Helena and Akhtar Rizvi, Syed Raza and Haider, Shozeb and Antonarakis, Stylianos and Schwartz, Charles and Mart{\'i}nez, Francisco and B{\'e}zieau, St{\'e}phane and Kahle, Kristopher and Isidor, Bertrand},
URL = {https://univ-rennes.hal.science/hal-03790515},
JOURNAL = {Genetics in Medicine},
PUBLISHER = {Nature Publishing Group},
VOLUME = {24},
NUMBER = {9},
PAGES = {1941-1951},
YEAR = {2022},
MONTH = Sep, DOI = {10.1016/j.gim.2022.05.009},
KEYWORDS = {Exome sequencing ; KCC2 ; Neurodevelopmental disease ; WNK3 ; X-linked intellectual disability},
HAL_ID = {hal-03790515},
HAL_VERSION = {v1},
}