Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants
对疑似患有遗传性癌症的未确诊欧洲患者进行基因组测序:诊断率和候选致病变异的鉴定
期刊:Jco Precision Oncology
影响因子:5.6
doi:10.1200/PO-25-00354
Martins, Nelson; Terradas, Mariona; Garcia-Pelaez, José; Sommer, Anna K; Demidov, German; Matalonga, Leslie; Ramos-Muntada, Mireia; Te Paske, Iris B A W; Spier, Isabel; Mensenkamp, Arjen; Schuurs-Hoeijmakers, Janneke; Gullo, Irene; São José, Celina; Pedro, Ana Maria; Gouveia Silva, Raquel; Sousa, Ana Berta; Amoroso Canão, Pedro; Fernandes, Susana; Garrido, Luzia; Dupont, Juliette; Maia, Sofia; Sousa, Gabriela; Irmejs, Arvids; Barili, Valeria; Blatnik, Ana; Rofes, Paula; Brunet, Joan; Capellá, Gabriel; Laurie, Steven; Lázaro, Conxi; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Oliveira, Carla; Valle, Laura