Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
胎儿尸检前后进行外显子组测序对先天性异常的诊断性能是否相同：这是否预示着产前诊断的范式转变？
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01117-7
Bourgon, Nicolas; Garde, Aurore; Bruel, Ange-Line; Lefebvre, Mathilde; Mau-Them, Frederic Tran; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Chevarin, Martin; Pöe, Charlotte; Thevenon, Julien; Lehalle, Daphné; Jean-Marçais, Nolween; Kuentz, Paul; Lambert, Laetitia; El Chehadeh, Salima; Schaefer, Elise; Willems, Marjolaine; Laffargue, Fanny; Francannet, Christine; Fradin, Mélanie; Gaillard, Dominique; Blesson, Sophie; Goldenberg, Alice; Capri, Yline; Sagot, Paul; Rousseau, Thierry; Simon, Emmanuel; Binquet, Christine; Ascencio, Marie-Laure; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Vitobello, Antonio; Thauvin-Robinet, Christel
