OOIR: Observatory of International Research

Papers

(The H4-Index of Genome Medicine is 49. 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 2021-06-01 to 2025-06-01.)

Article	Citations
The role of admixture in the rare variant contribution to inflammatory bowel disease	537
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	473
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	216
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	169
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes	168
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	165
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	153
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	143
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	129
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	126
Pervasiveness of HLA allele-specific expression loss across tumor types	123
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	120
DNA demethylation triggers cell free DNA release in colorectal cancer cells	118
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer	105
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	103
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	102
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	100
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	99
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	99
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	95
Role of the intestinal microbiome and microbial-derived metabolites in immune checkpoint blockade immunotherapy of cancer	89
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	85
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	83
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	79
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	73

The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	69
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	66
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	66
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	66
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	63
Correction: Genome Med 15, 115 & Genome Med 16, 3	62
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	60
Biological basis of extensive pleiotropy between blood traits and cancer risk	60
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	59
Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets	58
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	57
Diversity in EWAS: current state, challenges, and solutions	57
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	57
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	57
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	57
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	56
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance	54
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	53
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	53
Advancing precision public health using human genomics: examples from the field and future research opportunities	53
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation	52
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	52
Longitudinal analysis within one hospital in sub-Saharan Africa over 20 years reveals repeated replacements of dominant clones of Klebsiella pneumoniae and stresses the importance to include temporal	51
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	51
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer	49
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	49
A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada	49
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	49