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 2021-09-01 to 2025-09-01.)

Article	Citations
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	110
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	56
Lamin A/C missense variants: from discovery to functional validation	54
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	45
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	42
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	41
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	40
Efficient reinterpretation of rare disease cases using Exomiser	39
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	38
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	35
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	34
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	34
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	33
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	33
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	31
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	30
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	29
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	29
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	28
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	27
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	27
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	27
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma	27
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	26
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	25