Genome Medicine

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 2022-06-01 to 2026-06-01.)
ArticleCitations
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone757
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer297
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens268
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing259
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases251
The role of admixture in the rare variant contribution to inflammatory bowel disease238
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma174
African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels159
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)133
Pervasiveness of HLA allele-specific expression loss across tumor types125
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA105
Single-cell transcriptome analysis defines novel molecular subtypes and reveals therapeutic implications of T/myeloid mixed-phenotype acute leukemia105
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing101
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation97
Clinical characteristics and molecular heterogeneity in Follicular lymphoma with extranodal involvement95
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders92
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy92
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study84
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes84
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts81
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance79
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders75
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers75
GWAS-by-subtraction reveals new genetic architecture and health implications of type 2 diabetes-independent gestational diabetes mellitus75
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation74
The impact of the COVID-19 pandemic and associated lifestyle changes on early-life microbiome development72
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data71
Adult genomic medicine: lessons from a multisite study of 2700 patients69
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications67
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential67
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer64
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis64
Diversity in EWAS: current state, challenges, and solutions63
DNA demethylation triggers cell free DNA release in colorectal cancer cells63
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma62
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution61
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy61
Correction: Genome Med 15, 115 & Genome Med 16, 361
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause59
Cancer evolution and multi-omic profile of relapsed colorectal liver metastases after treatment58
Biological basis of extensive pleiotropy between blood traits and cancer risk58
Identifying intra-hospital Norovirus GII transmission using whole-genome sequencing57
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology56
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants55
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital54
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden54
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health53
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure53
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles53
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells52
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy52
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression51
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