OOIR: Observatory of International Research

Papers

(The H4-Index of npj Genomic Medicine is 24. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)

Article	Citations
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese	121
The landscape of driver mutations in cutaneous squamous cell carcinoma	70
Best practices for the interpretation and reporting of clinical whole genome sequencing	67
Effective variant filtering and expected candidate variant yield in studies of rare human disease	57
Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancer	53
Ratio of the interferon-γ signature to the immunosuppression signature predicts anti-PD-1 therapy response in melanoma	52
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19	46
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan	43
Clinical utility of genomic sequencing: a measurement toolkit	39
Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer	38
Telomere biology disorders	37
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	37
Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study	34
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases	31
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	30
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders	30
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease	29
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing	29
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	29
Application of full-genome analysis to diagnose rare monogenic disorders	27
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer	25
Methylation risk scores are associated with a collection of phenotypes within electronic health record systems	24
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level	24
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders	24