文章名稱引用次數(shù)

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• Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes18
• Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion18
• A large data resource of genomic copy number variation across neurodevelopmental disorders17
• New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis16
• Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico14
• Mutation load estimation model as a predictor of the response to cancer immunotherapy13
• High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer12