@article{arefeshghi:hal-02538107,
TITLE = {Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders},
AUTHOR = {Aref-Eshghi, Erfan and Kerkhof, Jennifer and Pedro, Victor and Barat-Houari, Mouna and Ruiz-Pallares, Nathalie and Andrau, Jean-Christophe and Lacombe, Didier and Van-Gils, Julien and Fergelot, Patricia and Dubourg, Christ{\`e}le and Cormier-Daire, Val{\'e}rie and Rondeau, Sophie and Lecoquierre, Fran{\c c}ois and Saugier-Veber, Pascale and Nicolas, Ga{\"e}l and Lesca, Gaetan and Chatron, Nicolas and Sanlaville, Damien and Vitobello, Antonio and Faivre, Laurence and Thauvin-Robinet, Christel and Laumonnier, Fr{\'e}d{\'e}ric and Raynaud, Martine and Alders, Marielle and Mannens, Marcel and Henneman, Peter and Hennekam, Raoul and Velasco, Guillaume and Francastel, Claire and Ulveling, Damien and Ciolfi, Andrea and Pizzi, Simone and Tartaglia, Marco and Heide, Solveig and Heron, Delphine and Mignot, Cyril and Keren, Boris and Whalen, Sandra and Afenjar, Alexandra and Bienvenu, Thierry and Campeau, Philippe and Rousseau, Justine and Levy, Michael and Brick, Lauren and Kozenko, Mariya and Balci, Tugce and Siu, Victoria Mok and Stuart, Alan and Kadour, Mike and Masters, Jennifer and Takano, Kyoko and Kleefstra, Tjitske and de Leeuw, Nicole and Field, Michael and Shaw, Marie and Gecz, Jozef and Ainsworth, Peter and Lin, Hanxin and Rodenhiser, David and Friez, Michael and Tedder, Matt and Lee, Jennifer and R. Dupont, Barbara and Stevenson, Roger and Skinner, Steven and Schwartz, Charles and Genevi{\`e}ve, David and Sadikovic, Bekim},
URL = {https://normandie-univ.hal.science/hal-02538107},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {106},
NUMBER = {3},
PAGES = {356-370},
YEAR = {2020},
MONTH = Mar, DOI = {10.1016/j.ajhg.2020.01.019},
KEYWORDS = {Molecular diagnostics ; EpiSign ; VUS classification ; Episignature ; DNA methylation ; Uncertain clinical cases},
HAL_ID = {hal-02538107},
HAL_VERSION = {v1},
}