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 2021-09-01 to 2025-09-01.)

Article	Citations
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	603
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes	547
The role of admixture in the rare variant contribution to inflammatory bowel disease	230
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	193
Pervasiveness of HLA allele-specific expression loss across tumor types	189
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	178
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	168
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	156
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	152
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	137
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	117
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	111
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	111
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	111
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	101
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	96
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer	94
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	86
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	78
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	78
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	75
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	75
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	73
DNA demethylation triggers cell free DNA release in colorectal cancer cells	70
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	69

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	65
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	65
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	65
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	64
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	63
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	63
Biological basis of extensive pleiotropy between blood traits and cancer risk	63
Correction: Genome Med 15, 115 & Genome Med 16, 3	63
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	62
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	60
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	60
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	60
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	59
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance	58
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	57
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	54
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	53
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	53
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	51
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	51
Diversity in EWAS: current state, challenges, and solutions	50
Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment	49
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	49
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation	49