OOIR: Observatory of International Research

Papers

(The H4-Index of npj Genomic Medicine is 23. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	67
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	63
Efficient reinterpretation of rare disease cases using Exomiser	54
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia	52
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	46
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	40
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	40
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	39
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	36
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	33
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	32
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	32
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	32
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	32
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	28
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	28
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	27
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	26
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant	25
Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6	25
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	24
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	24
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	23
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	23