OOIR: Observatory of International Research

Papers

(The median citation count of npj Genomic Medicine is 6. 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 2021-05-01 to 2025-05-01.)

Article	Citations
Efficient reinterpretation of rare disease cases using Exomiser	94
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals	81
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	76
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	58
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	49
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	49
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	47
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	47
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	43
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	41
The landscape of driver mutations in cutaneous squamous cell carcinoma	36
Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer	36
Lamin A/C missense variants: from discovery to functional validation	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
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	31
Author Correction: Genetic basis of hypercholesterolemia in adults	31
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	30
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	30
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	29
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	28
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	28
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	28
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	28
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	26

Functional assessment of IDUA variants of uncertain significance identified by newborn screening	26
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	26
The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank	25
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets	24
Pan-cancer atlas of somatic core and linker histone mutations	23
Alternative splicing is coupled to gene expression in a subset of variably expressed genes	23
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	23
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height	22
SLC16A8 is a causal contributor to age-related macular degeneration risk	22
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	21
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry	21
Structure and transcription of integrated HPV DNA in vulvar carcinomas	21
Application of full-genome analysis to diagnose rare monogenic disorders	19
Kagami Ogata syndrome: a small deletion refines critical region for imprinting	19
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	19
KLF5 activates lncRNA DANCR and inhibits cancer cell autophagy accelerating gastric cancer progression	19
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer	19
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases	18
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	18
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease	18
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients	18
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population	18
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions	17
Molecular classification of blood and bleeding disorder genes	17
Telomere biology disorders	17
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	17
Genetic discrimination: introducing the Asian perspective to the debate	16
Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer	16
Scaling-up and future sustainability of a national reproductive genetic carrier screening program	16
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study	16
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates	16
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	15
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity	15
Association between genes regulating neural pathways for quantitative traits of speech and language disorders	15
Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas	15
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	15
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	15
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing	15
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration	15
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	15
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	15
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	15
Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation	15
Systematic decision frameworks for the socially responsible use of precision medicine	14
Genome-wide discovery of hidden genes mediating known drug-disease association using KDDANet	14
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders	14
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	14
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population	14
Clinical and genetic characterization of patients with late onset Wilson’s disease	14
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	14

Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants	13
Polygenic height prediction for the Han Chinese in Taiwan	13
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer	13
The role of genetics in neurodegenerative dementia: a large cohort study in South China	13
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots	12
Radiosensitivity index emerges as a potential biomarker for combined radiotherapy and immunotherapy	12
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants	12
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations	12
Author Correction: Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma	12
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation	12
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy	12
MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence	12
Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases	12
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	12
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia	12
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture	11
Severe traumatic injury is associated with profound changes in DNA methylation	11
Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity	11
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses	11
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology	11
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans	11
A population study of clinically actionable genetic variation affecting drug response from the Middle East	11
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International	11
High-resolution analysis for urinary DNA jagged ends	11
A novel deep intronic variant strongly associates with Alkaptonuria	11
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	11
Effective variant filtering and expected candidate variant yield in studies of rare human disease	11
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model	10
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics	10
Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes	10
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas	10
The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer	10
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders	10
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma	10
Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders	10
SMAD6-deficiency in human genetic disorders	10
The QChip1 knowledgebase and microarray for precision medicine in Qatar	9
Precision drugging of the MAPK pathway in head and neck cancer	9
Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease	9
Multiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment	9
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	9
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	9
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19	9
Ethically utilising COVID-19 host-genomic data	9
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants	9
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases	9
Breaking the mold with RNA—a “RNAissance” of life science	8
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics	8
Serum calcium and 25-hydroxyvitamin D in relation to longevity, cardiovascular disease and cancer: a Mendelian randomization study	8
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia	8
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population	8
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome	8
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing	8
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance	8
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	8
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder	8
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort	8
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing	7
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome	7
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies	7
Medicine and health of 21st Century: Not just a high biotech-driven solution	7
Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients	7
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance	7
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing	7
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases	7
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome	7
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent	7
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis	7
Accurate detection of circulating tumor DNA using nanopore consensus sequencing	7
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data	6
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	6
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts	6
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome	6
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders	6
VHL mosaicism: the added value of multi-tissue analysis	6