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 2021-04-01 to 2025-04-01.)

Article	Citations
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease	89
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics	79
Alternative ANKHD1 transcript promotes proliferation and inhibits migration in uterine corpus endometrial carcinoma	74
Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes	58
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review	48
Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia	47
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	44
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension	42
Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes	41
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals	40
The diagnostic trajectory of infants and children with clinical features of genetic disease	36
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	35
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome	34
Lamin A/C missense variants: from discovery to functional validation	33
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	32
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing	32
Underrepresented patient views and perceptions of personalized medication treatment through pharmacogenomics	31
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	30
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses	29
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	29
Medicine and health of 21st Century: Not just a high biotech-driven solution	28
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	27
Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer	27
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity	27
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	27

Future implications of polygenic risk scores for life insurance underwriting