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 2022-05-01 to 2026-05-01.)

Article	Citations
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	733
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	282
African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels	255
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	253
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	242
Single-cell transcriptome analysis defines novel molecular subtypes and reveals therapeutic implications of T/myeloid mixed-phenotype acute leukemia	235
The role of admixture in the rare variant contribution to inflammatory bowel disease	167
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	154
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	132
Pervasiveness of HLA allele-specific expression loss across tumor types	122
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	103
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing	101
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	99
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	94
Adult genomic medicine: lessons from a multisite study of 2700 patients	89
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	89
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders	87
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	83
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	81
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	80
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	80
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	77
DNA demethylation triggers cell free DNA release in colorectal cancer cells	77
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes	75
Clinical characteristics and molecular heterogeneity in Follicular lymphoma with extranodal involvement	73

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	72
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	72
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	71
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	67
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	66
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	66
The impact of the COVID-19 pandemic and associated lifestyle changes on early-life microbiome development	64
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	64
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	64
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution	63
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy	62
Diversity in EWAS: current state, challenges, and solutions	61
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	59
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	58
Correction: Genome Med 15, 115 & Genome Med 16, 3	58
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	58
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	57
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure	57
Biological basis of extensive pleiotropy between blood traits and cancer risk	57
Cancer evolution and multi-omic profile of relapsed colorectal liver metastases after treatment	56
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	55
Identifying intra-hospital Norovirus GII transmission using whole-genome sequencing	55
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	55
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	53
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	52
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	52
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	51