Nature Genetics

Papers
(The H4-Index of Nature Genetics is 109. 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 2021-05-01 to 2025-05-01.)
ArticleCitations
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer1428
Mapping dog behavior1375
Epigenetic memory in 3D1114
Temperature-induced RNA recoding in octopus1030
Toward advances in retinoblastoma genetics in Kenya951
Reactivation of embryonic genetic programs in tissue regeneration and disease906
Mitochondrial DNA mosaicism in normal human somatic cells839
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides702
Role of gene–gene loops in fine-tuning cross-regulation514
Problems with dystopian representations in genetic futurism472
Machine learning drives genetic discovery for binge eating disorder469
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores449
Understanding liver repair through space and time405
GeneMAP enables discovery of metabolic gene function405
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness396
An atlas of genetic determinants of forearm fracture386
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization380
Genome-wide RNA polymerase stalling shapes the transcriptome during aging377
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation362
Renal plasticity revealed through reversal of polycystic kidney disease in mice357
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease351
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development328
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways322
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases302
Rare coding variant analysis for human diseases across biobanks and ancestries293
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea289
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome283
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence279
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells256
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals249
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes248
A biology-aware mutation rate model for human germline241
An alternative model for maternal mtDNA inheritance239
Identification of two intrinsic epithelial subtypes of colorectal cancer231
Shared genetics of substance use disorders231
Genes influence complex traits through environments that vary between geographic regions230
Histone gene editing probes functions of H3K27 modifications in mammals228
APOBEC mutagenesis is a common process in normal human small intestine225
Establishing African genomics and bioinformatics programs through annual regional workshops220
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice220
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas220
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors217
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks214
Somatic mutations in the stomach212
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns209
Recent ultra-rare inherited variants implicate new autism candidate risk genes204
Epigenomic contributions to tumor cell heterogeneity and plasticity198
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk196
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon192
When RNA methylation meets DNA methylation183
Finding causal genes underlying risk for coronary artery disease179
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome171
Interpreting cis-regulatory interactions from large-scale deep neural networks171
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice170
Finding cancer mutagens using signature analysis170
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors170
Author Correction: Pangenome graphs and their applications in biodiversity genomics165
Bayesian estimation of gene constraint from an evolutionary model with gene features162
Safeguard repressor locks hepatocyte identity and blocks liver cancer162
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases158
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data156
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function155
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction155
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors151
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity151
H3K27me3 conditions chemotolerance in triple-negative breast cancer151
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription150
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits149
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders149
Increasing diversity in genomics requires investment in equitable partnerships and capacity building148
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment145
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer143
RNA polymerase II dynamics shape enhancer–promoter interactions142
A generalized linear mixed model association tool for biobank-scale data141
Redefining teleost phylogeny139
Mutation rates across species137
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs136
Bottleneck size and selection level reproducibly impact evolution of antibiotic resistance136
Somatic recombination of repetitive elements136
Equity, ethics and the promise of partnership in genomic medicine133
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries131
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations131
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes131
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells129
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish128
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription127
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity126
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture126
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases126
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits125
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank124
Radiotherapy is associated with a deletion signature that contributes to poor outcomes in patients with cancer124
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations124
Sarcoma predisposition123
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops121
Genetic and biological insights into spontaneous coronary artery dissection121
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements121
The genetic origins of multiple sclerosis120
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification120
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype120
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin119
Defining and pursuing diversity in human genetic studies119
Polygenic basis for seedless grapes118
Defining genome access of transcription factors117
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition116
Indirect paths from genetics to education114
New genes helped acorn barnacles adapt to a sessile lifestyle114
Planting the milestones of human genetics in Senegal111
Improving estimates of loss-of-function constraint for short genes110
A complete telomere-to-telomere assembly of the maize genome109
Consensus prediction of cell type labels in single-cell data with popV109
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes109
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