@article{kury:hal-03661178,
TITLE = {Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder},
AUTHOR = {K{\"u}ry, S{\'e}bastien and Ebstein, Fr{\'e}d{\'e}ric and Moll{\'e},
Alice and Besnard, Thomas and Lee, Ming-Kang and Vignard, Virginie and Hery, Tiphaine and Nizon, Mathilde and Mancini, Grazia M.S. and Giltay, Jacques and Cogn{\'e},
Benjamin and Mcwalter, Kirsty and Deb, Wallid and Mor-Shaked, Hagar and Li, Hong and Schnur, Rhonda and Wentzensen, Ingrid and Denomm{\'e}-Pichon, Anne-Sophie and Fourgeux, Cynthia and Verheijen, Frans and Faurie, Eva and Schot, Rachel and Stevens, Cathy and Smits, Daphne and Barr, Eileen and Sheffer, Ruth and Bernstein, Jonathan and Stimach, Chandler and Kovitch, Eliana and Shashi, Vandana and Schoch, Kelly and Smith, Whitney and van Jaarsveld, Richard and Hurst, Anna C.E. and Smith, Kirstin and Baugh, Evan and Bohm, Suzanne and Vyhn{\'a}lkov{\'a},
Em{\'i}lie and Ryba, Luk{\'a}{\v s} and Delnatte, Capucine and Neira, Juanita and Bonneau, Dominique and Toutain, Annick and Rosenfeld, Jill and Audebert-Bellanger, S{\'e}verine and Gilbert-Dussardier, Brigitte and Odent, Sylvie and Laumonnier, Fr{\'e}d{\'e}ric and Berger, Seth and Smith, Ann C.M. and Bourdeaut, Franck and Stern, Marc-Henri and Redon, Richard and Kr{\"u}ger, Elke and Margueron, Rapha{\"e}l and B{\'e}zieau, St{\'e}phane and Poschmann, Jeremie and Isidor, Bertrand},
URL = {https://hal.science/hal-03661178},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {109},
NUMBER = {2},
PAGES = {361-372},
YEAR = {2022},
MONTH = Feb, DOI = {10.1016/j.ajhg.2021.12.011},
KEYWORDS = {BAP1 ; BRCA1 ; UPS ; cancer ; chromatin remodeling ; deubiquitination ; histone 2A ; intellectual disability ; neurodevelopment ; tumor ; ubiquitin ; ubiquitin-proteasome system.},
PDF = {https://hal.science/hal-03661178/file/K%C3%BCry%20et%20al%20-%202022%20-%20Rare%20germline%20heterozygous%20missense%20variants.pdf},
HAL_ID = {hal-03661178},
HAL_VERSION = {v1},
}