6.2(top 2%)
Impact Factor
6.8(top 2%)
extended IF
33(top 12%)
H-Index
868
authors
314
papers
4.3K
citations
990
citing journals
6.2K
citing authors

Most Cited Articles of Npj Genomic Medicine

TitleYearCitations
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases2018229
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine2016208
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization2018188
Genome-wide characteristics of mutations in autism2016126
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants201898
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes201984
Genomic and immune heterogeneity are associated with differential responses to therapy in melanoma201782
Genomic landscape of high-grade meningiomas201778
Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy201674
Circular RNA expression is abundant and correlated to aggressiveness in early-stage bladder cancer201767
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, , from whole-genome sequences201665
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance201655
A large data resource of genomic copy number variation across neurodevelopmental disorders201954
Preparing for genomic medicine: a real world demonstration of health system change201751
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care201651
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a () deletion201848
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases201748
Mechanistic signatures of HPV insertions in cervical carcinomas201648
Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia201746
A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevity201945
New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis201845
Mutation load estimation model as a predictor of the response to cancer immunotherapy201843
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy201842
The importance of copy number variation in congenital heart disease201642
Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies201739