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 2022-08-01 to 2026-08-01.)

Article	Citations
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	76
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	70
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	63
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia	58
Germline variants in cancer susceptibility genes among patients with mucosal melanoma	49
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	44
Efficient reinterpretation of rare disease cases using Exomiser	43
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	42
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	38
Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients	37
Genome sequencing based sequential diagnostic strategy improve diagnosed yield of pediatric genetic kidney disease: a national multicenter study	36
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	35
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	34
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	33
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	33
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	31
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	30
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	29
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	29
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	27
Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6	27
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant	27
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	26
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	25
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	24

Functional assessment of IDUA variants of uncertain significance identified by newborn screening	24
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	24