@article{husson:hal-04283066,
TITLE = {Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders},
AUTHOR = {Husson, Thomas and Lecoquierre, Fran{\c c}ois and Nicolas, Ga{\"e}l and Richard, Anne-Claire and Afenjar, Alexandra and Audebert-Bellanger, S{\'e}verine and Badens, Catherine and Bilan, Fr{\'e}d{\'e}ric and Bizaoui, Varoona and Boland, Anne and Bonnet-Dupeyron, Marie-No{\"e}lle and Brischoux-Boucher, Elise and Bonnet, C{\'e}line and Bournez, Marie and Boute, Odile and Brunelle, Perrine and Caumes, Roseline and Charles, Perrine and Chassaing, Nicolas and Chatron, Nicolas and Cogn{\'e},
Benjamin and Colin, Estelle and Cormier-Daire, Val{\'e}rie and Dard, Rodolphe and Dauriat, Benjamin and Delanne, Julian and Deleuze, Jean-Fran{\c c}ois and Demurger, Florence and Denomm{\'e}-Pichon, Anne-Sophie and Depienne, Christel and Dieux, Anne and Dubourg, Christ{\`e}le and Edery, Patrick and El Chehadeh, Salima and Faivre, Laurence and Fergelot, Patricia and Fradin, M{\'e}lanie and Garde, Aurore and Genevi{\`e}ve, David and Gilbert-Dussardier, Brigitte and Goizet, Cyril and Goldenberg, Alice and Gouy, Evan and Guerrot, Anne-Marie and Guimier, Anne and Harzalla, In{\`e}s and H{\'e}ron, Delphine and Isidor, Bertrand and Lacombe, Didier and Le Guillou Horn, Xavier and Keren, Boris and Kuechler, Alma and Lacaze, Elodie and Lavillaureix, Alino{\"e} and Lehalle, Daphn{\'e} and Lesca, Ga{\"e}tan and Lespinasse, James and Levy, Jonathan and Lyonnet, Stanislas and Morel, Godeli{\`e}ve and Jean-Mar{\c c}ais, Nolwenn and Marlin, Sandrine and Marsili, Luisa and Mignot, Cyril and Nambot, Sophie and Nizon, Mathilde and Olaso, Robert and Pasquier, Laurent and Perrin, Laurine and Petit, Florence and Pingault, Veronique and Piton, Am{\'e}lie and Prieur, Fabienne and Putoux, Audrey and Planes, Marc and Odent, Sylvie and Qu{\'e}lin, Chlo{\'e} and Quemener-Redon, Sylvia and Rama, M{\'e}lanie and Rio, Marl{\`e}ne and Rossi, Massimiliano and Schaefer, Elise and Rondeau, Sophie and Saugier-Veber, Pascale and Smol, Thomas and Sigaudy, Sabine and Touraine, Renaud and Mau-Them, Frederic Tran and Trimouille, Aur{\'e}lien and van Gils, Julien and Vanlerberghe, Cl{\'e}mence and Vantalon, Val{\'e}rie and Vera, Gabriella and Vincent, Marie and Ziegler, Alban and Guillin, Olivier and Campion, Dominique and Charbonnier, Camille},
URL = {https://univ-rennes.hal.science/hal-04283066},
JOURNAL = {European Journal of Human Genetics},
PUBLISHER = {Nature Publishing Group},
VOLUME = {32},
NUMBER = {2},
PAGES = {190-199},
YEAR = {2024},
MONTH = Feb, DOI = {10.1038/s41431-023-01474-x},
PDF = {https://univ-rennes.hal.science/hal-04283066/file/s41431-023-01474-x.pdf},
HAL_ID = {hal-04283066},
HAL_VERSION = {v1},
}