Genome sequencing as a generic diagnostic strategy for rare disease
基因组测序作为罕见病的通用诊断策略
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-024-01301-y
Schobers, Gaby; Derks, Ronny; den Ouden, Amber; Swinkels, Hilde; van Reeuwijk, Jeroen; Bosgoed, Ermanno; Lugtenberg, Dorien; Sun, Su Ming; Corominas Galbany, Jordi; Weiss, Marjan; Blok, Marinus J; Olde Keizer, Richelle A C M; Hofste, Tom; Hellebrekers, Debby; de Leeuw, Nicole; Stegmann, Alexander; Kamsteeg, Erik-Jan; Paulussen, Aimee D C; Ligtenberg, Marjolijn J L; Bradley, Xiangqun Zheng; Peden, John; Gutierrez, Alejandra; Pullen, Adam; Payne, Tom; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G; Nelen, Marcel; Yntema, Helger G; Vissers, Lisenka E L M