Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants
提高家族性和散发性脑海绵状血管畸形的基因诊断率:检测拷贝数变异和深部内含子变异
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddaf077
Sikta, Neblina; Gooley, Samuel; Green, Timothy E; Hoeper, Olivia; Witkowski, Tom; Bennett, Caitlin; Francis, David; Reid, Joshua; Mao, Kevin; Awad, Mohammed; Roberts-Thomson, Samuel; Bulluss, Kristian; Clark, Jonathan; Scheffer, Ingrid E; Perucca, Piero; Bennett, Mark F; Bahlo, Melanie; Berkovic, Samuel F; Hildebrand, Michael S