Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases
Estelle Colin,Yannis Duffourd,Patrick Callier,Emilie Tisserant,Thomas Besnard,Alice Goldenberg,Benjamin Cogne,Bertrand Isidor,Arthur Sorlin,Sebastien Moutton,Julian Delanne,Ange-Line Bruel,Frederic Tran Mau-Them,Anne-Sophie Denomme-Pichon,Melanie Fradin, Christel Dubourg,Magali Gorce,Salima El Chehadeh,Francois-Guillaume Debray,Martine Doco Fenzy,Kevin Uguen,Anne Boland,Robert Olaso, Jean-Francois Deleuze,Damien Sanlaville,Christophe Philippe,Christel Thauvin-Robinet, Laurence Faivre,Antonio Vitobello EUROPEAN JOURNAL OF HUMAN GENETICS（2022）
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typical clinical diagnosis,transcriptomics integration,diseases,first-line
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