Nature Genetics

Papers
(The H4-Index of Nature Genetics is 111. 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 2022-08-01 to 2026-08-01.)
ArticleCitations
Toward advances in retinoblastoma genetics in Kenya927
Epigenetic memory in 3D727
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer715
Mapping dog behavior590
Role of gene–gene loops in fine-tuning cross-regulation484
Machine learning drives genetic discovery for binge eating disorder444
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores437
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides392
GeneMAP enables discovery of metabolic gene function374
Predicting obesity from childhood349
Cracking the histone code for prostate cancer therapy337
Criteria for prioritizing trait-relevant genes302
Complete genomes of six ape species295
Defining the transcriptional landscape in the classical subtype of pancreatic cancer295
Chromatin loop proteomics finds a non-catalytic function for a histone demethylase278
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas273
Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study271
Somatic mutations link focal onset to widespread neurodegeneration in ALS and FTD259
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation256
Author Correction: Single-cell atlas of the transcriptome and chromatin accessibility in the human retina254
Understanding liver repair through space and time248
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation246
Genome-wide fine-mapping improves identification of causal variants244
Genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin243
Advances and challenges of splicing prediction with AI240
Insights from three decades of BRCA1/2 modeling in mice230
Reactivation of embryonic genetic programs in tissue regeneration and disease229
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease228
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization226
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes223
An atlas of genetic determinants of forearm fracture223
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness221
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes220
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption218
Mitochondrial DNA mosaicism in normal human somatic cells203
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease202
Problems with dystopian representations in genetic futurism198
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases198
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize198
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells196
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development196
Temperature-induced RNA recoding in octopus195
Genome-wide RNA polymerase stalling shapes the transcriptome during aging195
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea190
Rare coding variant analysis for human diseases across biobanks and ancestries190
Shared genetics of substance use disorders183
A biology-aware mutation rate model for human germline182
Genes influence complex traits through environments that vary between geographic regions181
Finding cancer mutagens using signature analysis180
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors180
Somatic mutations in the stomach180
High-content genetic screens identify RNA-based mechanisms to target immune evasion179
Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor177
Publisher Correction: A genetic module boosts grain yield and nitrogen use efficiency by improving nitrate transport in maize177
Genetic associations with educational fields175
Recycling enhancers173
Finding causal genes underlying risk for coronary artery disease170
Publisher Correction: APOBEC3 mutagenesis drives therapy resistance in breast cancer169
The emergence of metastasis in colorectal cancer169
Author Correction: Pangenome graphs and their applications in biodiversity genomics168
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice165
Exploring the mammalian metabolome with DeepMet163
Safeguard repressor locks hepatocyte identity and blocks liver cancer162
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data162
Stromal immune cell signatures predict risk of progression in meningioma162
An alternative model for maternal mtDNA inheritance157
Histone acetylation-dependent clustering of BRD2 instructs transcription dynamics155
APOBEC mutagenesis is a common process in normal human small intestine154
Establishing African genomics and bioinformatics programs through annual regional workshops153
When RNA methylation meets DNA methylation152
Epigenetically driven and early immune evasion in colorectal cancer evolution151
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice149
Lineage tracing from cellular heritage to disease destiny149
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription145
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice144
Bayesian estimation of gene constraint from an evolutionary model with gene features143
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction141
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer140
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns137
Interpreting cis-regulatory interactions from large-scale deep neural networks136
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma134
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion134
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks132
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen132
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors130
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment129
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases128
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk127
Proteome-wide model for human disease genetics126
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits126
RNA polymerase II dynamics shape enhancer–promoter interactions124
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon123
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity122
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas122
Equity, ethics and the promise of partnership in genomic medicine121
Redefining teleost phylogeny119
Somatic recombination of repetitive elements119
Sarcoma predisposition117
SBRR1-R variant regulates sheath blight resistance in rice117
Genetic and biological insights into spontaneous coronary artery dissection115
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops114
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype113
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition113
The PRECISE European initiative for cancer-vulnerability mapping and prediction113
Toward a framework for measuring the impact of ELSI research112
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq112
A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects112
Defining and pursuing diversity in human genetic studies112
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription112
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries112
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture111
Planting the milestones of human genetics in Senegal111
Improving estimates of loss-of-function constraint for short genes111
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