OOIR: Observatory of International Research

Papers

(The H4-Index of npj Genomic Medicine is 26. 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 2021-05-01 to 2025-05-01.)

Article	Citations
Efficient reinterpretation of rare disease cases using Exomiser	94
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals	81
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	76
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	58
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	49
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	49
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	47
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	47
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	43
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	41
Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer	36
The landscape of driver mutations in cutaneous squamous cell carcinoma	36
Lamin A/C missense variants: from discovery to functional validation	35
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	34
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma	33
Author Correction: Genetic basis of hypercholesterolemia in adults	31
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	31
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	30
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	30
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	29
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	28
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	28
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	28
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	28
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	26

Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	26
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	26