@article{jeanne:hal-03221134,
TITLE = {Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities},
AUTHOR = {Jeanne, M{\'e}d{\'e}ric and Demory, H{\'e}l{\`e}ne and Moutal, Aubin and Vuillaume, Marie-Laure and Blesson, Sophie and Th{\'e}pault, Rose-Anne and Marouillat, Sylviane and Halewa, Judith and Maas, Saskia M and Motazacker, M Mahdi and Mancini, Grazia M S and van Slegtenhorst, Marjon A and Andreou, Avgi and Cox, Helene and Vogt, Julie and Laufman, Jason and Kostandyan, Natella and Babikyan, Davit and Hancarova, Miroslava and Bendova, Sarka and Sedlacek, Zdenek and Aldinger, Kimberly A and Sherr, Elliott H and Argilli, Emanuela and England, Eleina M and Audebert-Bellanger, S{\'e}verine and Bonneau, Dominique and Colin, Estelle and Denomm{\'e}-Pichon, Anne-Sophie and Gilbert-Dussardier, Brigitte and Isidor, Bertrand and K{\"u}ry, Sebastien and Odent, Sylvie and Redon, Richard and Khanna, Rajesh and Dobyns, William B and B{\'e}zieau, St{\'e}phane and Honnorat, J{\'e}r{\^o}me and Lohkamp, Bernhard and Toutain, Annick and Laumonnier, Fr{\'e}d{\'e}ric},
URL = {https://hal.science/hal-03221134},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {108},
NUMBER = {5},
PAGES = {951-961},
YEAR = {2021},
MONTH = May, DOI = {10.1016/j.ajhg.2021.04.004},
KEYWORDS = {DPYSL5 ; brain malformation ; corpus callosum agenesis ; de novo missense variants ; dendrite branching ; neurodevelopmental disorder ; primary neuronal cultures},
PDF = {https://hal.science/hal-03221134/file/Jeanne_et%20al_2021_Missense%20variants%20in%20DPYSL5_accepted.pdf},
HAL_ID = {hal-03221134},
HAL_VERSION = {v1},
}