Nature Genetics

Article	Citations
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	1725
Mapping dog behavior	1086
Epigenetic memory in 3D	642
Temperature-induced RNA recoding in octopus	535
Toward advances in retinoblastoma genetics in Kenya	495
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	495
Role of gene–gene loops in fine-tuning cross-regulation	478
Machine learning drives genetic discovery for binge eating disorder	463
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	459
GeneMAP enables discovery of metabolic gene function	454
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	441
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	420
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	419
Mitochondrial DNA mosaicism in normal human somatic cells	380
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	359
Understanding liver repair through space and time	357
Complete genomes of six ape species	309
Predicting obesity from childhood	301
Problems with dystopian representations in genetic futurism	289
Reactivation of embryonic genetic programs in tissue regeneration and disease	288
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	286
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	283
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	282
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	280
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	274

Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	269
Renal plasticity revealed through reversal of polycystic kidney disease in mice	265
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	263
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	263
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	258
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	247
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	231
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence	227
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	219
An atlas of genetic determinants of forearm fracture	216
Rare coding variant analysis for human diseases across biobanks and ancestries	208
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	208
Shared genetics of substance use disorders	205
A biology-aware mutation rate model for human germline	205
Genes influence complex traits through environments that vary between geographic regions	204
Somatic mutations in the stomach	200
Identification of two intrinsic epithelial subtypes of colorectal cancer	192
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	187
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	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	184
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	178
Finding cancer mutagens using signature analysis	177
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	174
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	173
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	173
Author Correction: Pangenome graphs and their applications in biodiversity genomics	173
Safeguard repressor locks hepatocyte identity and blocks liver cancer	172
RNA polymerase II dynamics shape enhancer–promoter interactions	170
When RNA methylation meets DNA methylation	167
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	161
Histone gene editing probes functions of H3K27 modifications in mammals	161
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	160
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	157
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	157
Establishing African genomics and bioinformatics programs through annual regional workshops	157
An alternative model for maternal mtDNA inheritance	157
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	154
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	154
Interpreting cis-regulatory interactions from large-scale deep neural networks	153
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	151
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function	149
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	149
Increasing diversity in genomics requires investment in equitable partnerships and capacity building	149
Bayesian estimation of gene constraint from an evolutionary model with gene features	147
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	145
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders	144
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	142
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	140

A generalized linear mixed model association tool for biobank-scale data	140
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	140
APOBEC mutagenesis is a common process in normal human small intestine	139
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors	139
H3K27me3 conditions chemotolerance in triple-negative breast cancer	138
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	137
Redefining teleost phylogeny	137
Mutation rates across species	136
Somatic recombination of repetitive elements	135
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	135
Consensus prediction of cell type labels in single-cell data with popV	133
Equity, ethics and the promise of partnership in genomic medicine	133
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	132
Defining and pursuing diversity in human genetic studies	132
SBRR1-R variant regulates sheath blight resistance in rice	129
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	128
Sarcoma predisposition	126
Why genomic diversity should not be framed by census alone	126
A multi-tissue single-cell expression atlas in cattle	126
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	125
Genetic and biological insights into spontaneous coronary artery dissection	124
The genetic origins of multiple sclerosis	122
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	122
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	120
New genes helped acorn barnacles adapt to a sessile lifestyle	120
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	119
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	119
Defining genome access of transcription factors	117
Polygenic basis for seedless grapes	117
Indirect paths from genetics to education	116
Improving estimates of loss-of-function constraint for short genes	115
Planting the milestones of human genetics in Senegal	115
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	114
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish	113
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	113
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	113
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	113
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	113
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	111
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	111
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	109
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells	108
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	107
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	107
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	107
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	106
A complete telomere-to-telomere assembly of the maize genome	105
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	105
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	105
The language of genetics	104
Genomics of the oldest domesticated wheat	103
Profiling oncogenic extra-chromosomal DNA in cancer	101
Sequencing genetic and epigenetic bases	101
High-throughput screening identifies modulators of gene bursting	100
Transposable element evolution in mammals	99
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	98
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	98
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	98
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	98
Deciphering the regulatory logic of a chromatin domain boundary	98
Base editing as a therapeutic strategy for somatic repeat expansion diseases	97
Extraordinary collateral mutagenesis induced by CX-5461	97
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	97
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	97
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	95
Potential approaches to create ultimate genotypes in crops and livestock	95
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	95
Genetics of sexually dimorphic adipose distribution in humans	95
Mapping interindividual dynamics of innate immune response at single-cell resolution	94
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	94
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	92
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	92
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	92
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	92
LINE1 are spliced in non-canonical transcript variants to regulate T cell quiescence and exhaustion	91
Human genetic diversity alters off-target outcomes of therapeutic gene editing	88
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	88
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	88
Bipotent transitional liver progenitor cells contribute to liver regeneration	88
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	88

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	87
A compendium of genetic regulatory effects across pig tissues	87
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	86
Potato genome diversity	86
A one-stop shop for 3D spatial transcriptomics	85
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	85
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	84
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	84
X chromosome dosage shapes renal cell carcinoma risk	84
Applying compressed Perturb-seq to genetic screens	83
LINE1 mediates long-range DNA interactions	83
Most large structural variants in cancer genomes can be detected without long reads	83
Deep learning model improves COPD risk prediction and gene discovery	82
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	81
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	81
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	81
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	81
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	81
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	79
Functional analysis of cancer-associated germline risk variants	79
Pathogen perception and deception in plant immunity by kinase fusion proteins	79
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	79
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	78
Our ancestry dictates clonal architecture and skin cancer susceptibility	78
Cell-state-specific enhancer design in hematopoiesis	77
Decoding complex patterns of oncogene amplification	77
Genetic contribution to heterogeneity in type 2 diabetes	77
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	77
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	76
KDM4C shields breast cancer from the histone scissor cathepsin L	75
The disordered N-terminal domain of DNMT3A recognizes H2AK119ub and is required for postnatal development	75
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	75
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	75
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	75
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	74
Mapping extrachromosomal DNA amplifications during cancer progression	74
Genetic insights into depression	74
Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking	74
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	74
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	73
Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities	73
Exploring the genetic overlap between twelve psychiatric disorders	72
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	70
Diverse mutations in autism-related genes and their expression in the developing brain	70
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank	70
DNA methylation provides molecular links underlying complex traits	69
A molecular map of T cell activation gives insights into immune disease	69
Engineering extrachromosomal DNA	68
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	68
RNA m6A regulates transcription via DNA demethylation and chromatin accessibility	68
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference	67
Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer	67
Genome-wide prediction of disease variant effects with a deep protein language model	67
Multiomic analysis of homologous recombination-deficient end-stage high-grade serous ovarian cancer	66
The genomic landscape of pediatric acute lymphoblastic leukemia	66
Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer	66
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease	66
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	65
Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells	65
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	65
Activating the dark genome to illuminate cancer vaccine targets	64
Author Correction: LINE-1 transcription activates long-range gene expression	64
Genome synteny reveals hidden enhancer conservation	64
How cauliflower got its curd	64
Towards trustworthiness of precision medicine research for people with disabilities	64
Cellular states are coupled to genomic and viral heterogeneity in HPV-related oropharyngeal carcinoma	63
Annotating and prioritizing human non-coding variants with RegulomeDB v.2	63
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study	63
Aberrant splicing prediction across human tissues	62
CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses	62
Genome assembly and genetic dissection of a prominent drought-resistant maize germplasm	62
Pervasive biases in proxy genome-wide association studies based on parental history of Alzheimer’s disease	62
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes	61
Borzoi decodes the complex DNA signals governing gene regulation	60
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology	60
CHOIR improves significance-based detection of cell types and states from single-cell data	60
Charles David Allis (1951–2023)	60
Genetic analysis of right heart structure and function in 40,000 people	60
Single-cell mtDNA dynamics in tumors is driven by coregulation of nuclear and mitochondrial genomes	60
RNA Pol II enters the ring of cohesin-mediated loop extrusion	60
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution	60
SARS-CoV-2 diagnostic testing rates determine the sensitivity of genomic surveillance programs	60
The future of polygenic risk scores in direct-to-consumer genomics	59
Repairing a deleterious domestication variant in a floral regulator gene of tomato by base editing	59
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains	59
Using large-scale population-based data to improve disease risk assessment of clinical variants	59
Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles	58
Decoding the zebrafish genome	58
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis	58
New insights into the genetic etiology of Alzheimer’s disease and related dementias	58
Structural polymorphism and diversity of human segmental duplications	58
Large-scale integration of the plasma proteome with genetics and disease	58
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders	58
The Ruminant Telomere-to-Telomere (RT2T) Consortium	58
A mass balance principle for finding loose ends in cancer genomes	57