OOIR: Observatory of International Research

Papers

(The H4-Index of Genome Medicine is 51. 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 2022-01-01 to 2026-01-01.)

Article	Citations
The role of admixture in the rare variant contribution to inflammatory bowel disease	648
Single-cell transcriptome analysis defines novel molecular subtypes and reveals therapeutic implications of T/myeloid mixed-phenotype acute leukemia	266
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	220
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	213
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	206
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	205
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	204
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	198
Pervasiveness of HLA allele-specific expression loss across tumor types	149
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	144
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	130
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	122
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	118
DNA demethylation triggers cell free DNA release in colorectal cancer cells	109
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	103
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	93
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	85
Adult genomic medicine: lessons from a multisite study of 2700 patients	85
Clinical characteristics and molecular heterogeneity in Follicular lymphoma with extranodal involvement	82
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	82
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders	81
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	77
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes	76
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	72
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	71

Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	70
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	70
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	69
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	69
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	68
Correction: Genome Med 15, 115 & Genome Med 16, 3	68
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	63
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution	62
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure	62
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	60
Biological basis of extensive pleiotropy between blood traits and cancer risk	59
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	57
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	57
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	57
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	57
Diversity in EWAS: current state, challenges, and solutions	55
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	54
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy	54
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	54
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	54
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	53
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	53
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	52
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	52
Optimized high-throughput whole-genome sequencing workflow for surveillance of influenza A virus	52
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	52
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation	51
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
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	51