Publications:

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Frontiers In Cell And Developmental Biology

Colin, Estelle E; Duffourd, Yannis Y; Chevarin, Martin M; Tisserant, Emilie E; Verdez, Simon S; Paccaud, Julien J; Bruel, Ange-Line AL; Tran Mau-Them, Frédéric F; Denommé-Pichon, Anne-Sophie AS; Thevenon, Julien J; Safraou, Hana H; Besnard, Thomas T; Goldenberg, Alice A; Cogné, Benjamin B; Isidor, Bertrand B; Delanne, Julian J; Sorlin, Arthur A; Moutton, Sébastien S; Fradin, Mélanie M; Dubourg, Christèle C; Gorce, Magali M; Bonneau, Dominique D; El Chehadeh, Salima S; Debray, François-Guillaume FG; Doco-Fenzy, Martine M; Uguen, Kevin K; Chatron, Nicolas N; Aral, Bernard B; Marle, Nathalie N; Kuentz, Paul P; Boland, Anne A; Olaso, Robert R; Deleuze, Jean-François JF; Sanlaville, Damien D; Callier, Patrick P; Philippe, Christophe C; Thauvin-Robinet, Christel C; Faivre, Laurence L; Vitobello, Antonio A

Publication Date: 2023

Variant appearance in text: CILD7: Phe2214Trpfs*35

PubMed Link: 36926521

Variant Present in the following documents:

• Main text
• fcell-11-1021920.pdf

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