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 2021-11-01 to 2025-11-01.)

Article	Citations
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	596
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	248
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	214
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	198
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	191
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	187
Pervasiveness of HLA allele-specific expression loss across tumor types	175
The role of admixture in the rare variant contribution to inflammatory bowel disease	172
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	142
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	130
DNA demethylation triggers cell free DNA release in colorectal cancer cells	121
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	114
Adult genomic medicine: lessons from a multisite study of 2700 patients	111
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes	104
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	99
Clinical characteristics and molecular heterogeneity in Follicular lymphoma with extranodal involvement	85
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	83
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	82
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	79
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	77
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	76
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	76
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	73
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	69
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	68

The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	68
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	68
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	67
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	67
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders	66
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	65
Correction: Genome Med 15, 115 & Genome Med 16, 3	62
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution	60
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	58
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	56
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	55
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	55
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	54
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	52
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	52
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure	52
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	52
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	51
Biological basis of extensive pleiotropy between blood traits and cancer risk	51
Diversity in EWAS: current state, challenges, and solutions	50
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	49
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	49
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	47
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	47
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	47
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	47
The telomere maintenance mechanism spectrum and its dynamics in gliomas	47
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	47