Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
光学基因组图谱鉴定出在两个患有非典型畸胎瘤样横纹肌样瘤的兄弟姐妹中，SMARCB1 中存在生殖系逆转录转座子插入
期刊:Journal of Pathology
影响因子:5.6
doi:10.1002/path.5755
Mariangela Sabatella #, Tuomo Mantere #, Esmé Waanders, Kornelia Neveling, Arjen R Mensenkamp, Freerk van Dijk, Jayne Y Hehir-Kwa, Ronnie Derks, Michael Kwint, Luke O'Gorman, Madalena Tropa Martins, Corrie Em Gidding, Maarten H Lequin, Benno Küsters, Pieter Wesseling, Marcel Nelen, Jacklyn A Biegel,
