OOIR: Observatory of International Research

Papers

(The H4-Index of Genome Medicine is 47. 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 2021-02-01 to 2025-02-01.)

Article	Citations
In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers	443
Pervasiveness of HLA allele-specific expression loss across tumor types	427
Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients	364
Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries	166
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma	139
Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping	135
Towards elucidating disease-relevant states of neurons and glia by CRISPR-based functional genomics	132
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance	130
IFN-γ and TNF-α drive a CXCL10+ CCL2+ macrophage phenotype expanded in severe COVID-19 lungs and inflammatory diseases with tissue inflammation	124
Metagenomic prediction of antimicrobial resistance in critically ill patients with lower respiratory tract infections	120
Machine learning integrative approaches to advance computational immunology	120
The exceptions that prove the rule—a historical view of bedaquiline susceptibility	110
Trans-ethnic gut microbial signatures of prediabetic subjects from India and Denmark	110
A machine learning classifier using 33 host immune response mRNAs accurately distinguishes viral and non-viral acute respiratory illnesses in nasal swab samples	99
Transcriptomic perspectives of memory-like NK cells and aging	99
The genomic landscape of rare disorders in the Middle East	98
A validated heart-specific model for splice-disrupting variants in childhood heart disease	95
Annotation of cell types (ACT): a convenient web server for cell type annotation	93
ReporTree: a surveillance-oriented tool to strengthen the linkage between pathogen genetic clusters and epidemiological data	90
Landscape and selection of vaccine epitopes in SARS-CoV-2	90
Destination shapes antibiotic resistance gene acquisitions, abundance increases, and diversity changes in Dutch travelers	84
Loss of Y in leukocytes as a risk factor for critical COVID-19 in men	79
Identification of specific susceptibility loci for the early-onset colorectal cancer	78
Systems pharmacogenomics identifies novel targets and clinically actionable therapeutics for medulloblastoma	78
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions	76

Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	72
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	71
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences	69
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	65
The role of admixture in the rare variant contribution to inflammatory bowel disease	65
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	64
Variability of polygenic prediction for body mass index in Africa	64
PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies	64
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	59
Systematic genomic analysis of SARS-CoV-2 co-infections throughout the pandemic and segregation of the strains involved	59
The gut microbiota in multiple sclerosis varies with disease activity	58
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study	58
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	58
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes	55
Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis	53
Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans	53
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	52
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	51
Circulating bacterial signature is linked to metabolic disease and shifts with metabolic alleviation after bariatric surgery	50
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19	49
A mixture model for signature discovery from sparse mutation data	48
Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma	47