Npj Genomic Medicine高引用文章

• Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

  引用次数：79

• Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

  引用次数：56

• The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

  引用次数：34

• Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

  引用次数：18

• Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion

  引用次数：18

• A large data resource of genomic copy number variation across neurodevelopmental disorders

  引用次数：17

• New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis

  引用次数：16

• Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

  引用次数：14

• Mutation load estimation model as a predictor of the response to cancer immunotherapy

  引用次数：13

• High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

  引用次数：12