Nature Genetics

Papers
(The H4-Index of Nature Genetics is 114. 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 2021-09-01 to 2025-09-01.)
ArticleCitations
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer1665
Mapping dog behavior1611
Epigenetic memory in 3D1334
Temperature-induced RNA recoding in octopus1091
Toward advances in retinoblastoma genetics in Kenya1041
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides775
Role of gene–gene loops in fine-tuning cross-regulation597
Problems with dystopian representations in genetic futurism521
Machine learning drives genetic discovery for binge eating disorder481
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores477
GeneMAP enables discovery of metabolic gene function450
Understanding liver repair through space and time445
Complete genomes of six ape species444
An atlas of genetic determinants of forearm fracture442
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells427
Renal plasticity revealed through reversal of polycystic kidney disease in mice409
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases406
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization364
Mitochondrial DNA mosaicism in normal human somatic cells353
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption343
Genome-wide RNA polymerase stalling shapes the transcriptome during aging342
Rare coding variant analysis for human diseases across biobanks and ancestries319
Reactivation of embryonic genetic programs in tissue regeneration and disease300
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes281
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize277
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea277
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome275
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness268
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals265
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation265
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development263
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence262
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways258
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease257
A biology-aware mutation rate model for human germline256
Shared genetics of substance use disorders250
Genes influence complex traits through environments that vary between geographic regions235
Somatic mutations in the stomach227
When RNA methylation meets DNA methylation225
Identification of two intrinsic epithelial subtypes of colorectal cancer213
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice204
Bayesian estimation of gene constraint from an evolutionary model with gene features201
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer198
Interpreting cis-regulatory interactions from large-scale deep neural networks197
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon196
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice192
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas191
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders190
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks189
Epigenomic contributions to tumor cell heterogeneity and plasticity181
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction181
Finding causal genes underlying risk for coronary artery disease181
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome180
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors177
Finding cancer mutagens using signature analysis174
Safeguard repressor locks hepatocyte identity and blocks liver cancer173
Author Correction: Pangenome graphs and their applications in biodiversity genomics173
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data170
Histone gene editing probes functions of H3K27 modifications in mammals166
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns166
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen166
An alternative model for maternal mtDNA inheritance165
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk161
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription159
Establishing African genomics and bioinformatics programs through annual regional workshops158
Increasing diversity in genomics requires investment in equitable partnerships and capacity building156
RNA polymerase II dynamics shape enhancer–promoter interactions155
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors155
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases154
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits153
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment152
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors150
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity148
H3K27me3 conditions chemotolerance in triple-negative breast cancer147
APOBEC mutagenesis is a common process in normal human small intestine147
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function146
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice145
A generalized linear mixed model association tool for biobank-scale data145
Redefining teleost phylogeny141
Mutation rates across species140
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs137
Somatic recombination of repetitive elements137
Equity, ethics and the promise of partnership in genomic medicine136
Sarcoma predisposition135
Defining and pursuing diversity in human genetic studies135
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops134
Genetic and biological insights into spontaneous coronary artery dissection134
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin133
The genetic origins of multiple sclerosis133
Polygenic basis for seedless grapes133
Defining genome access of transcription factors132
Indirect paths from genetics to education130
Improving estimates of loss-of-function constraint for short genes129
Planting the milestones of human genetics in Senegal129
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes128
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition127
Bottleneck size and selection level reproducibly impact evolution of antibiotic resistance127
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases126
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements126
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish124
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat123
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations121
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations119
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription117
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity117
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas117
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank116
New genes helped acorn barnacles adapt to a sessile lifestyle116
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries115
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells115
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits114
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification114
SBRR1-R variant regulates sheath blight resistance in rice114
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution114
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