Npj Genomic Medicine SCIE

文章名称引用次数

• Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases79
• Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization56
• The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants34
• 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