@article{colin:hal-04211099,
TITLE = {Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases},
AUTHOR = {Colin, E and Duffourd, Y and Callier, P and Tisserant, E and Besnard, T and Goldenberg, A and Cogne, B and Isidor, B and Sorlin, A and Moutton, S and Delanne, J and Bruel, Al and Mau-Them, Ft and Denomme-Pichon, As and Fradin, M and Dubourg, C and Gorce, M and El Chehadeh, S and Debray, Fg and Fenzy, Md and Uguen, K and Boland, Anne and Olaso, Robert and Deleuze, Jean-Fran{\c c}ois and Sanlaville, D and Philippe, C and Thauvin-Robinet, C and Faivre, L and Vitobello, A},
URL = {https://univ-rennes.hal.science/hal-04211099},
JOURNAL = {European Journal of Human Genetics},
PUBLISHER = {Nature Publishing Group},
VOLUME = {30},
NUMBER = {SUPPL 1},
PAGES = {356-357},
YEAR = {2022},
HAL_ID = {hal-04211099},
HAL_VERSION = {v1},
}