Nature Genetics

Papers
(The H4-Index of Nature Genetics is 108. 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 2021-06-01 to 2025-06-01.)
ArticleCitations
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer1489
Mapping dog behavior1435
Epigenetic memory in 3D1164
Temperature-induced RNA recoding in octopus981
Toward advances in retinoblastoma genetics in Kenya881
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides722
Role of gene–gene loops in fine-tuning cross-regulation495
Problems with dystopian representations in genetic futurism484
Machine learning drives genetic discovery for binge eating disorder464
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores422
GeneMAP enables discovery of metabolic gene function412
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness410
Understanding liver repair through space and time397
Rare coding variant analysis for human diseases across biobanks and ancestries395
Complete genomes of six ape species393
An atlas of genetic determinants of forearm fracture382
Reactivation of embryonic genetic programs in tissue regeneration and disease373
Genome-wide RNA polymerase stalling shapes the transcriptome during aging365
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease329
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells315
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea305
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption304
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes287
Mitochondrial DNA mosaicism in normal human somatic cells286
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development267
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases258
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome256
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals250
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways244
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization243
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation242
Renal plasticity revealed through reversal of polycystic kidney disease in mice240
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence240
A biology-aware mutation rate model for human germline237
Shared genetics of substance use disorders236
Identification of two intrinsic epithelial subtypes of colorectal cancer227
Genes influence complex traits through environments that vary between geographic regions226
Histone gene editing probes functions of H3K27 modifications in mammals225
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks224
Somatic mutations in the stomach215
Epigenomic contributions to tumor cell heterogeneity and plasticity213
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon208
Finding causal genes underlying risk for coronary artery disease201
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome199
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors188
Finding cancer mutagens using signature analysis184
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice180
Safeguard repressor locks hepatocyte identity and blocks liver cancer177
Author Correction: Pangenome graphs and their applications in biodiversity genomics177
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data176
Interpreting cis-regulatory interactions from large-scale deep neural networks173
An alternative model for maternal mtDNA inheritance169
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas168
Bayesian estimation of gene constraint from an evolutionary model with gene features167
When RNA methylation meets DNA methylation166
Establishing African genomics and bioinformatics programs through annual regional workshops163
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns161
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors161
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction159
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription158
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders156
RNA polymerase II dynamics shape enhancer–promoter interactions154
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer153
Increasing diversity in genomics requires investment in equitable partnerships and capacity building152
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity150
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases149
H3K27me3 conditions chemotolerance in triple-negative breast cancer146
Recent ultra-rare inherited variants implicate new autism candidate risk genes146
APOBEC mutagenesis is a common process in normal human small intestine145
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk141
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function140
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors140
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 rice137
A generalized linear mixed model association tool for biobank-scale data137
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits136
Mutation rates across species136
Redefining teleost phylogeny136
Bottleneck size and selection level reproducibly impact evolution of antibiotic resistance132
Somatic recombination of repetitive elements132
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs130
Equity, ethics and the promise of partnership in genomic medicine130
Sarcoma predisposition128
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification128
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops128
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes128
Genetic and biological insights into spontaneous coronary artery dissection127
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements127
The genetic origins of multiple sclerosis126
Defining and pursuing diversity in human genetic studies126
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype126
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin124
Polygenic basis for seedless grapes123
Defining genome access of transcription factors123
Indirect paths from genetics to education121
New genes helped acorn barnacles adapt to a sessile lifestyle119
Planting the milestones of human genetics in Senegal117
Improving estimates of loss-of-function constraint for short genes115
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes114
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries113
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition113
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank112
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations112
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases111
Consensus prediction of cell type labels in single-cell data with popV111
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish109
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations109
A complete telomere-to-telomere assembly of the maize genome108
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription108
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