OOIR: Observatory of International Research

Papers

(The TQCC of npj Genomic Medicine is 13. 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
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing	32
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	32
Underrepresented patient views and perceptions of personalized medication treatment through pharmacogenomics	31
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	30
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	29
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses	29
Medicine and health of 21st Century: Not just a high biotech-driven solution	28
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
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

Future implications of polygenic risk scores for life insurance underwriting	26
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes	25
Efficient reinterpretation of rare disease cases using Exomiser	25
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	24
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer	23
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	23
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities	22
Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank	22
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model	22
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International	21
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	21
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	19
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept	19
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts	19
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders	18
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	18
The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer	18
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	17
SMAD6-deficiency in human genetic disorders	17
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma	17
VHL mosaicism: the added value of multi-tissue analysis	17
Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer	17
Dissecting the multi-omics atlas of the exosomes released by human lung adenocarcinoma stem-like cells	16
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	16
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data	16
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients	15
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort	15
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient	15
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador	15
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	15
The landscape of driver mutations in cutaneous squamous cell carcinoma	15
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model	15
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	15
Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes	14
Genome-wide discovery of hidden genes mediating known drug-disease association using KDDANet	14
Systematic decision frameworks for the socially responsible use of precision medicine	14
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease	14
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma	14
Author Correction: Genetic basis of hypercholesterolemia in adults	14
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer	14
Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone	14
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	14
Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma	14
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	14
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	13
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders	13
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy	13
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders	13
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	13
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants	13