OOIR: Observatory of International Research

Papers

(The H4-Index of npj Genomic Medicine is 25. 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 2020-04-01 to 2024-04-01.)

Article	Citations
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese	100
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease	65
Pharmacogenomics of COVID-19 therapies	59
The landscape of driver mutations in cutaneous squamous cell carcinoma	53
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis	50
Effective variant filtering and expected candidate variant yield in studies of rare human disease	49
Best practices for the interpretation and reporting of clinical whole genome sequencing	46
Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancer	46
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration	42
Ratio of the interferon-γ signature to the immunosuppression signature predicts anti-PD-1 therapy response in melanoma	42
Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants	39
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19	38
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses	37
Children’s rare disease cohorts: an integrative research and clinical genomics initiative	37
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan	36
Clinical utility of genomic sequencing: a measurement toolkit	36
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping	34
Telomere biology disorders	30
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	29
Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer	29
Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study	28
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases	27
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders	27
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing	26
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease	25