Nature Genetics

Article	Citations
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	1605
Mapping dog behavior	1549
Epigenetic memory in 3D	1276
Temperature-induced RNA recoding in octopus	1060
Toward advances in retinoblastoma genetics in Kenya	973
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	754
Role of gene–gene loops in fine-tuning cross-regulation	565
Problems with dystopian representations in genetic futurism	508
Machine learning drives genetic discovery for binge eating disorder	459
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	452
GeneMAP enables discovery of metabolic gene function	438
Reactivation of embryonic genetic programs in tissue regeneration and disease	431
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	430
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	424
An atlas of genetic determinants of forearm fracture	415
Understanding liver repair through space and time	395
Complete genomes of six ape species	394
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	347
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	346
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	334
Mitochondrial DNA mosaicism in normal human somatic cells	331
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	307
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	288
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	271
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	267

Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence	262
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	262
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	262
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	260
Rare coding variant analysis for human diseases across biobanks and ancestries	257
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	250
Renal plasticity revealed through reversal of polycystic kidney disease in mice	249
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	247
A biology-aware mutation rate model for human germline	244
Shared genetics of substance use disorders	242
Genes influence complex traits through environments that vary between geographic regions	237
Somatic mutations in the stomach	225
When RNA methylation meets DNA methylation	222
Identification of two intrinsic epithelial subtypes of colorectal cancer	214
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	207
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	199
APOBEC mutagenesis is a common process in normal human small intestine	191
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	189
Interpreting cis-regulatory interactions from large-scale deep neural networks	187
Finding causal genes underlying risk for coronary artery disease	186
Epigenomic contributions to tumor cell heterogeneity and plasticity	186
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome	185
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	182
Finding cancer mutagens using signature analysis	176
Safeguard repressor locks hepatocyte identity and blocks liver cancer	175
Author Correction: Pangenome graphs and their applications in biodiversity genomics	175
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	174
An alternative model for maternal mtDNA inheritance	174
Increasing diversity in genomics requires investment in equitable partnerships and capacity building	172
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	170
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	165
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	162
Histone gene editing probes functions of H3K27 modifications in mammals	160
Bayesian estimation of gene constraint from an evolutionary model with gene features	160
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	159
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function	159
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	158
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	158
RNA polymerase II dynamics shape enhancer–promoter interactions	156
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	156
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors	150
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	149
Establishing African genomics and bioinformatics programs through annual regional workshops	149
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders	148
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	148
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	147
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	147
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	144
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	143
A generalized linear mixed model association tool for biobank-scale data	142

H3K27me3 conditions chemotolerance in triple-negative breast cancer	139
Redefining teleost phylogeny	137
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	137
Somatic recombination of repetitive elements	136
Mutation rates across species	136
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	135
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	135
Equity, ethics and the promise of partnership in genomic medicine	134
Sarcoma predisposition	132
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	131
The genetic origins of multiple sclerosis	130
Genetic and biological insights into spontaneous coronary artery dissection	130
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	130
Defining genome access of transcription factors	129
Polygenic basis for seedless grapes	129
New genes helped acorn barnacles adapt to a sessile lifestyle	127
Indirect paths from genetics to education	127
Planting the milestones of human genetics in Senegal	125
Improving estimates of loss-of-function constraint for short genes	125
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	124
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells	123
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	123
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	121
Consensus prediction of cell type labels in single-cell data with popV	121
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	119
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	119
Bottleneck size and selection level reproducibly impact evolution of antibiotic resistance	119
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	118
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	115
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	115
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	114
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish	114
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	113
Defining and pursuing diversity in human genetic studies	112
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	111
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	111
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	110
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	109
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	109
A complete telomere-to-telomere assembly of the maize genome	109
The language of genetics	108
Sequencing genetic and epigenetic bases	108
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	108
Genomics of the oldest domesticated wheat	108
Profiling oncogenic extra-chromosomal DNA in cancer	108
Transposable element evolution in mammals	107
High-throughput screening identifies modulators of gene bursting	107
In silico saturation mutagenesis of cancer genes	106
Deciphering the regulatory logic of a chromatin domain boundary	105
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	105
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	103
LINE1 are spliced in non-canonical transcript variants to regulate T cell quiescence and exhaustion	103
Genetics of sexually dimorphic adipose distribution in humans	103
Base editing as a therapeutic strategy for somatic repeat expansion diseases	102
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	101
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	100
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	100
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	100
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	99
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	96
Potential approaches to create ultimate genotypes in crops and livestock	96
Extraordinary collateral mutagenesis induced by CX-5461	96
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	96
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	96
Bipotent transitional liver progenitor cells contribute to liver regeneration	96
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	95
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	94
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	94
Mapping interindividual dynamics of innate immune response at single-cell resolution	93
A compendium of genetic regulatory effects across pig tissues	93
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	93
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	92
Human genetic diversity alters off-target outcomes of therapeutic gene editing	91
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	90
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	90
Sickle-cell anemia gene therapy	90
Potato genome diversity	89
A one-stop shop for 3D spatial transcriptomics	88
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	88
X chromosome dosage shapes renal cell carcinoma risk	86

Most large structural variants in cancer genomes can be detected without long reads	85
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	85
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank	83
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	82
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	82
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	82
Mapping extrachromosomal DNA amplifications during cancer progression	82
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	81
Applying compressed Perturb-seq to genetic screens	81
LINE1 mediates long-range DNA interactions	81
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	81
Functional analysis of cancer-associated germline risk variants	81
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	80
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	80
Deep learning model improves COPD risk prediction and gene discovery	80
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	79
Our ancestry dictates clonal architecture and skin cancer susceptibility	79
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	79
Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities	78
Decoding complex patterns of oncogene amplification	78
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	78
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	78
Pathogen perception and deception in plant immunity by kinase fusion proteins	77
Genetic insights into depression	76
Cell-state-specific enhancer design in hematopoiesis	76
A single-cell-type transcriptomics map of human tissues	76
Genetic contribution to heterogeneity in type 2 diabetes	76
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	75
KDM4C shields breast cancer from the histone scissor cathepsin L	75
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	74
Exploring the genetic overlap between twelve psychiatric disorders	73
The disordered N-terminal domain of DNMT3A recognizes H2AK119ub and is required for postnatal development	73
Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking	73
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	73
Diverse mutations in autism-related genes and their expression in the developing brain	72
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	72
DNA methylation provides molecular links underlying complex traits	72
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	72
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	71
Engineering extrachromosomal DNA	71
A molecular map of T cell activation gives insights into immune disease	71
Decoding the zebrafish genome	70
Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells	70
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	70
Author Correction: LINE-1 transcription activates long-range gene expression	69
How cauliflower got its curd	69
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains	68
Towards trustworthiness of precision medicine research for people with disabilities	68
Genome synteny reveals hidden enhancer conservation	68
Activating the dark genome to illuminate cancer vaccine targets	67
Borzoi decodes the complex DNA signals governing gene regulation	67
Charles David Allis (1951–2023)	67
RNA Pol II enters the ring of cohesin-mediated loop extrusion	66
The Ruminant Telomere-to-Telomere (RT2T) Consortium	66
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology	66
Genome assembly and genetic dissection of a prominent drought-resistant maize germplasm	65
CHOIR improves significance-based detection of cell types and states from single-cell data	65
Single-cell mtDNA dynamics in tumors is driven by coregulation of nuclear and mitochondrial genomes	65
Multiomic analysis of homologous recombination-deficient end-stage high-grade serous ovarian cancer	64
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders	63
Aberrant splicing prediction across human tissues	63
Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles	62
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution	62
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference	62
Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer	61
Structural polymorphism and diversity of human segmental duplications	61
CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses	61
Using large-scale population-based data to improve disease risk assessment of clinical variants	61
SARS-CoV-2 diagnostic testing rates determine the sensitivity of genomic surveillance programs	60
The genomic landscape of pediatric acute lymphoblastic leukemia	60
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes	60
Pervasive biases in proxy genome-wide association studies based on parental history of Alzheimer’s disease	59
RNA m6A regulates transcription via DNA demethylation and chromatin accessibility	59
Large-scale integration of the plasma proteome with genetics and disease	59
Cellular states are coupled to genomic and viral heterogeneity in HPV-related oropharyngeal carcinoma	59
Genetic analysis of right heart structure and function in 40,000 people	59
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	58
New insights into the genetic etiology of Alzheimer’s disease and related dementias	58
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis	58
Repairing a deleterious domestication variant in a floral regulator gene of tomato by base editing	57
Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer	57
Annotating and prioritizing human non-coding variants with RegulomeDB v.2	57
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study	57
A mass balance principle for finding loose ends in cancer genomes	56
Publisher Correction: Functional innovation through new genes as a general evolutionary process	56
Integration of genetic data with dynamic gene regulatory elements identifies autoimmune effector cell states	56
Genome-wide prediction of disease variant effects with a deep protein language model	56
Single-cell mapping of HTT somatic repeat expansions	56
Stepwise de novo establishment of inactive X chromosome architecture in early development	56
The evolving cancer genome	56
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease	56
Single-cell technologies meet Hi-C	55
Publisher Correction: Epigenomic contributions to tumor cell heterogeneity and plasticity	55
Publisher Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors	54
DNA loop extrusion is asymmetric but can switch direction	54