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 2021-08-01 to 2025-08-01.)

Article	Citations
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	105
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	53
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	53
Lamin A/C missense variants: from discovery to functional validation	45
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	41
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	39
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	39
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	39
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	37
Efficient reinterpretation of rare disease cases using Exomiser	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
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	32
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	32
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	31
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	29
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	28
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	28
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	27
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	27
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	27
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	27
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets	26
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	24