Nature Genetics

Papers
(The H4-Index of Nature Genetics is 113. 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 2021-11-01 to 2025-11-01.)
ArticleCitations
Toward advances in retinoblastoma genetics in Kenya1797
Epigenetic memory in 3D1138
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer677
Mapping dog behavior549
Role of gene–gene loops in fine-tuning cross-regulation520
Temperature-induced RNA recoding in octopus520
Machine learning drives genetic discovery for binge eating disorder501
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores480
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides475
GeneMAP enables discovery of metabolic gene function467
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea435
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize433
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease399
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness372
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption370
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals323
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome316
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization303
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation296
Genome-wide RNA polymerase stalling shapes the transcriptome during aging295
Reactivation of embryonic genetic programs in tissue regeneration and disease292
Predicting obesity from childhood291
Problems with dystopian representations in genetic futurism288
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas275
Complete genomes of six ape species274
An atlas of genetic determinants of forearm fracture272
Mitochondrial DNA mosaicism in normal human somatic cells272
Cracking the histone code for prostate cancer therapy268
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes256
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease237
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells231
Understanding liver repair through space and time231
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes225
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases215
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways213
Rare coding variant analysis for human diseases across biobanks and ancestries213
Shared genetics of substance use disorders212
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development212
A biology-aware mutation rate model for human germline206
Genes influence complex traits through environments that vary between geographic regions200
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors195
Finding cancer mutagens using signature analysis192
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome190
Somatic mutations in the stomach190
Identification of two intrinsic epithelial subtypes of colorectal cancer190
Author Correction: Pangenome graphs and their applications in biodiversity genomics185
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data183
Safeguard repressor locks hepatocyte identity and blocks liver cancer183
When RNA methylation meets DNA methylation179
APOBEC mutagenesis is a common process in normal human small intestine179
Establishing African genomics and bioinformatics programs through annual regional workshops179
An alternative model for maternal mtDNA inheritance178
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon176
Histone gene editing probes functions of H3K27 modifications in mammals171
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice167
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice167
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas165
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function162
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen162
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction162
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks162
Recycling enhancers161
Interpreting cis-regulatory interactions from large-scale deep neural networks160
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription159
Finding causal genes underlying risk for coronary artery disease157
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk154
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits154
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors154
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity152
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice152
Bayesian estimation of gene constraint from an evolutionary model with gene features150
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors147
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment146
RNA polymerase II dynamics shape enhancer–promoter interactions145
Increasing diversity in genomics requires investment in equitable partnerships and capacity building144
A generalized linear mixed model association tool for biobank-scale data144
H3K27me3 conditions chemotolerance in triple-negative breast cancer143
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders143
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases142
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer142
Equity, ethics and the promise of partnership in genomic medicine141
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns141
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs138
Mutation rates across species137
Redefining teleost phylogeny137
Somatic recombination of repetitive elements135
Sarcoma predisposition131
SBRR1-R variant regulates sheath blight resistance in rice131
Genetic and biological insights into spontaneous coronary artery dissection130
Why genomic diversity should not be framed by census alone130
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops129
The genetic origins of multiple sclerosis129
Improving estimates of loss-of-function constraint for short genes126
New genes helped acorn barnacles adapt to a sessile lifestyle126
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations126
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes125
Planting the milestones of human genetics in Senegal124
Indirect paths from genetics to education123
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish122
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations122
A pangenome of maize provides genetic insights into drought resistance122
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin121
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases121
Consensus prediction of cell type labels in single-cell data with popV121
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification118
Defining genome access of transcription factors118
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition118
Polygenic basis for seedless grapes118
Nucleotide dependency analysis of genomic language models detects functional elements117
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks117
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells115
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq114
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype113
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements113
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