@article{colin:hal-03886419,
TITLE = {OMIXCARE: OMICS technologies solved about 33\% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13\% additional candidate variants},
AUTHOR = {Colin, Estelle and Duffourd, Yannis and Tisserant, Emilie and Relator, Raissa and Bruel, Ange-Line and Tran Mau-Them, Fr{\'e}d{\'e}ric and Denomm{\'e}-Pichon, Anne-Sophie and Safraou, Hana and Delanne, Julian and Jean-Mar{\c c}ais, Nolwenn and Keren, Boris and Isidor, Bertrand and Vincent, Marie and Mignot, Cyril and Heron, Delphine and Afenjar, Alexandra and Heide, Solveig and Faudet, Anne and Charles, Perrine and Odent, Sylvie and Herenger, Yvan and Sorlin, Arthur and Moutton, S{\'e}bastien and Kerkhof, Jennifer and Mcconkey, Haley and Chevarin, Martin and Po{\"e},
Charlotte and Couturier, Victor and Bourgeois, Valentin and Callier, Patrick and Boland, Anne and Olaso, Robert and Philippe, Christophe and Sadikovic, Bekim and Thauvin-Robinet, Christel and Faivre, Laurence and Deleuze, Jean-Fran{\c c}ois and Vitobello, Antonio},
URL = {https://univ-rennes.hal.science/hal-03886419},
JOURNAL = {Frontiers in Cell and Developmental Biology},
PUBLISHER = {Frontiers media},
VOLUME = {10},
PAGES = {1021785},
YEAR = {2022},
MONTH = Oct, DOI = {10.3389/fcell.2022.1021785},
KEYWORDS = {DNA methylation analysis ; genome sequencing ; transcriptome sequencing ; translational research ; undiagnosed neurodevelopmental diseases},
PDF = {https://univ-rennes.hal.science/hal-03886419/file/Colin-2022-OMIXCARE-%20OMICS%20technologies.pdf},
HAL_ID = {hal-03886419},
HAL_VERSION = {v1},
}