@article{isidor:hal-01259225,
TITLE = {De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability},
AUTHOR = {Isidor, Bertrand and K{\"u}ry, S{\'e}bastien and Rosenfeld, Jill A. and Besnard, Thomas and Schmitt, S{\'e}bastien and Joss, Shelagh and Davies, Sally J. and Lebel, Robert Roger and Henderson, Alex and Schaaf, Christian P. and Streff, Haley E. and Yang, Yaping and Jain, Vani and Chida, Nodoka and Latypova, Xenia and Caignec, C{\'e}dric Le and Cogn{\'e},
Benjamin and Mercier, Sandra and Vincent, Marie and Colin, Estelle and Bonneau, Dominique and Denomm{\'e},
Anne-Sophie and Parent, Philippe and Gilbert-Dussardier, Brigitte and Odent, Sylvie and Toutain, Annick and Piton, Am{\'e}lie and Dina, Christian and Donnart, Audrey and Lindenbaum, Pierre and Charpentier, Eric and Redon, Richard and Iemura, Kenji and Ikeda, Masanori and Tanaka, Kozo and B{\'e}zieau, St{\'e}phane},
URL = {https://univ-rennes.hal.science/hal-01259225},
JOURNAL = {Human Mutation},
PUBLISHER = {Wiley},
VOLUME = {37},
NUMBER = {4},
PAGES = {354--358},
YEAR = {2016},
MONTH = Jan, DOI = {10.1002/humu.22952},
KEYWORDS = {HP1 ; Intellectual disability ; CHAMP1 ; kinetochores ; microcephaly ; Microtubules ; POGZ},
PDF = {https://univ-rennes.hal.science/hal-01259225/file/De%20Novo%20Truncating%20Mutations%20in%20the%20kinetochore-microtubules%20Isidor_et_al-2016-Human_Mutation.pdf},
HAL_ID = {hal-01259225},
HAL_VERSION = {v1},
}