Nature Genetics

Papers
(The H4-Index of Nature Genetics is 110. 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 2021-07-01 to 2025-07-01.)
ArticleCitations
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer1539
Mapping dog behavior1483
Epigenetic memory in 3D1218
Temperature-induced RNA recoding in octopus1020
Toward advances in retinoblastoma genetics in Kenya934
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides735
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes529
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease494
Reactivation of embryonic genetic programs in tissue regeneration and disease478
Role of gene–gene loops in fine-tuning cross-regulation440
Problems with dystopian representations in genetic futurism428
Machine learning drives genetic discovery for binge eating disorder425
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores413
GeneMAP enables discovery of metabolic gene function409
An atlas of genetic determinants of forearm fracture404
Renal plasticity revealed through reversal of polycystic kidney disease in mice404
Rare coding variant analysis for human diseases across biobanks and ancestries383
Understanding liver repair through space and time381
Complete genomes of six ape species338
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption329
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness320
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases317
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways298
Mitochondrial DNA mosaicism in normal human somatic cells281
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea263
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation261
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization259
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence253
Genome-wide RNA polymerase stalling shapes the transcriptome during aging253
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development252
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome252
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells249
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals247
A biology-aware mutation rate model for human germline245
Shared genetics of substance use disorders239
Genes influence complex traits through environments that vary between geographic regions238
Histone gene editing probes functions of H3K27 modifications in mammals232
Somatic mutations in the stomach231
When RNA methylation meets DNA methylation218
Identification of two intrinsic epithelial subtypes of colorectal cancer217
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk214
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns212
Epigenomic contributions to tumor cell heterogeneity and plasticity202
Finding causal genes underlying risk for coronary artery disease193
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome184
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors182
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice181
Finding cancer mutagens using signature analysis181
Safeguard repressor locks hepatocyte identity and blocks liver cancer180
Author Correction: Pangenome graphs and their applications in biodiversity genomics180
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data175
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription172
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon169
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks169
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen168
Interpreting cis-regulatory interactions from large-scale deep neural networks167
An alternative model for maternal mtDNA inheritance164
Establishing African genomics and bioinformatics programs through annual regional workshops163
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity159
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors158
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits156
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas156
Bayesian estimation of gene constraint from an evolutionary model with gene features153
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction152
Increasing diversity in genomics requires investment in equitable partnerships and capacity building151
APOBEC mutagenesis is a common process in normal human small intestine151
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders150
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer150
A generalized linear mixed model association tool for biobank-scale data148
RNA polymerase II dynamics shape enhancer–promoter interactions146
Recent ultra-rare inherited variants implicate new autism candidate risk genes143
H3K27me3 conditions chemotolerance in triple-negative breast cancer143
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases142
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors141
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment139
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice138
Redefining teleost phylogeny137
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function137
Mutation rates across species136
Somatic recombination of repetitive elements134
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs134
Bottleneck size and selection level reproducibly impact evolution of antibiotic resistance134
Equity, ethics and the promise of partnership in genomic medicine132
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition131
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements131
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries131
Sarcoma predisposition130
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops129
Genetic and biological insights into spontaneous coronary artery dissection128
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin126
Defining and pursuing diversity in human genetic studies126
The genetic origins of multiple sclerosis126
Polygenic basis for seedless grapes124
Defining genome access of transcription factors123
Indirect paths from genetics to education122
Planting the milestones of human genetics in Senegal120
New genes helped acorn barnacles adapt to a sessile lifestyle120
Improving estimates of loss-of-function constraint for short genes118
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes117
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations115
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases115
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat115
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations115
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish114
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype113
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification113
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription112
A complete telomere-to-telomere assembly of the maize genome110
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank110
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture110
Consensus prediction of cell type labels in single-cell data with popV110
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