Recommendations for whole genome sequencing in diagnostics for rare diseases
关于罕见病诊断中全基因组测序的建议
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01113-x
Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C; Dincer, Yasemin; Eck, Sebastian H; van der Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G; Weiss, Marjan M