Nature Genetics

Article	Citations
Toward advances in retinoblastoma genetics in Kenya	1797
Epigenetic memory in 3D	1138
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	677
Mapping dog behavior	549
Temperature-induced RNA recoding in octopus	520
Role of gene–gene loops in fine-tuning cross-regulation	520
Machine learning drives genetic discovery for binge eating disorder	501
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	480
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	475
GeneMAP enables discovery of metabolic gene function	467
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	435
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	433
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	399
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	372
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	370
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	323
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	316
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	303
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	296
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	295
Reactivation of embryonic genetic programs in tissue regeneration and disease	292
Predicting obesity from childhood	291
Problems with dystopian representations in genetic futurism	288
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas	275
Complete genomes of six ape species	274

An atlas of genetic determinants of forearm fracture	272
Mitochondrial DNA mosaicism in normal human somatic cells	272
Cracking the histone code for prostate cancer therapy	268
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	256
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	237
Understanding liver repair through space and time	231
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	231
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	225
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	215
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	213
Rare coding variant analysis for human diseases across biobanks and ancestries	213
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	212
Shared genetics of substance use disorders	212
A biology-aware mutation rate model for human germline	206
Genes influence complex traits through environments that vary between geographic regions	200
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	195
Finding cancer mutagens using signature analysis	192
Identification of two intrinsic epithelial subtypes of colorectal cancer	190
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome	190
Somatic mutations in the stomach	190
Author Correction: Pangenome graphs and their applications in biodiversity genomics	185
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	183
Safeguard repressor locks hepatocyte identity and blocks liver cancer	183
When RNA methylation meets DNA methylation	179
APOBEC mutagenesis is a common process in normal human small intestine	179
Establishing African genomics and bioinformatics programs through annual regional workshops	179
An alternative model for maternal mtDNA inheritance	178
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	176
Histone gene editing probes functions of H3K27 modifications in mammals	171
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	167
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	167
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	165
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	162
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function	162
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	162
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	162
Recycling enhancers	161
Interpreting cis-regulatory interactions from large-scale deep neural networks	160
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	159
Finding causal genes underlying risk for coronary artery disease	157
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors	154
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	154
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	154
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	152
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	152
Bayesian estimation of gene constraint from an evolutionary model with gene features	150
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	147
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	146
RNA polymerase II dynamics shape enhancer–promoter interactions	145
A generalized linear mixed model association tool for biobank-scale data	144

Increasing diversity in genomics requires investment in equitable partnerships and capacity building	144
H3K27me3 conditions chemotolerance in triple-negative breast cancer	143
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders	143
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	142
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	142
Equity, ethics and the promise of partnership in genomic medicine	141
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	141
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	138
Mutation rates across species	137
Redefining teleost phylogeny	137
Somatic recombination of repetitive elements	135
Sarcoma predisposition	131
SBRR1-R variant regulates sheath blight resistance in rice	131
Why genomic diversity should not be framed by census alone	130
Genetic and biological insights into spontaneous coronary artery dissection	130
The genetic origins of multiple sclerosis	129
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	129
New genes helped acorn barnacles adapt to a sessile lifestyle	126
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	126
Improving estimates of loss-of-function constraint for short genes	126
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	125
Planting the milestones of human genetics in Senegal	124
Indirect paths from genetics to education	123
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	122
A pangenome of maize provides genetic insights into drought resistance	122
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish	122
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	121
Consensus prediction of cell type labels in single-cell data with popV	121
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	121
Defining genome access of transcription factors	118
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	118
Polygenic basis for seedless grapes	118
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	118
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	117
Nucleotide dependency analysis of genomic language models detects functional elements	117
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells	115
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq	114
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	113
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	113
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	112
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	111
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	111
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	110
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	109
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	109
A multi-tissue single-cell expression atlas in cattle	108
A complete telomere-to-telomere assembly of the maize genome	107
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	107
Defining and pursuing diversity in human genetic studies	106
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	106
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	104
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	104
The language of genetics	103
Transposable element evolution in mammals	102
Genomics of the oldest domesticated wheat	102
High-throughput screening identifies modulators of gene bursting	102
Profiling oncogenic extra-chromosomal DNA in cancer	102
Sequencing genetic and epigenetic bases	101
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	101
Deciphering the regulatory logic of a chromatin domain boundary	101
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	100
Base editing as a therapeutic strategy for somatic repeat expansion diseases	100
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer	99
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	99
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	99
Extraordinary collateral mutagenesis induced by CX-5461	99
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	97
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	97
LINE1 are spliced in non-canonical transcript variants to regulate T cell quiescence and exhaustion	95
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	94
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	94
Potential approaches to create ultimate genotypes in crops and livestock	94
Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction	93
A compendium of genetic regulatory effects across pig tissues	92
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	92
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	92
Mapping interindividual dynamics of innate immune response at single-cell resolution	91
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	91
Genetics of sexually dimorphic adipose distribution in humans	91
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	90

A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	89
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	89
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	88
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	87
Bipotent transitional liver progenitor cells contribute to liver regeneration	87
Potato genome diversity	86
Human genetic diversity alters off-target outcomes of therapeutic gene editing	86
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	86
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	86
X chromosome dosage shapes renal cell carcinoma risk	86
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	86
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	85
A one-stop shop for 3D spatial transcriptomics	85
Applying compressed Perturb-seq to genetic screens	85
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	84
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	83
Genetic insights into depression	83
LINE1 mediates long-range DNA interactions	83
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	82
Most large structural variants in cancer genomes can be detected without long reads	82
Pathogen perception and deception in plant immunity by kinase fusion proteins	82
Decoding complex patterns of oncogene amplification	81
Deep learning model improves COPD risk prediction and gene discovery	80
Genetic contribution to heterogeneity in type 2 diabetes	80
Cell-state-specific enhancer design in hematopoiesis	80
KDM4C shields breast cancer from the histone scissor cathepsin L	80
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	79
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	79
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	78
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	77
The disordered N-terminal domain of DNMT3A recognizes H2AK119ub and is required for postnatal development	75
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	75
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	75
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank	75
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	75
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	75
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	74
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	74
Our ancestry dictates clonal architecture and skin cancer susceptibility	74
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	73
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	73
Functional analysis of cancer-associated germline risk variants	72
Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities	71
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	71
Mapping extrachromosomal DNA amplifications during cancer progression	71
Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking	70
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	70
Diverse mutations in autism-related genes and their expression in the developing brain	69
DNA methylation provides molecular links underlying complex traits	69
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	69
A molecular map of T cell activation gives insights into immune disease	69
Exploring the genetic overlap between twelve psychiatric disorders	69
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	68
Engineering extrachromosomal DNA	68
Activating the dark genome to illuminate cancer vaccine targets	67
Genome synteny reveals hidden enhancer conservation	67
Author Correction: LINE-1 transcription activates long-range gene expression	67
Towards trustworthiness of precision medicine research for people with disabilities	67
Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells	66
How cauliflower got its curd	66
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	66
SARS-CoV-2 diagnostic testing rates determine the sensitivity of genomic surveillance programs	65
Single-cell mtDNA dynamics in tumors is driven by coregulation of nuclear and mitochondrial genomes	65
RNA Pol II enters the ring of cohesin-mediated loop extrusion	65
Charles David Allis (1951–2023)	65
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains	65
Borzoi decodes the complex DNA signals governing gene regulation	65
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis	64
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	64
Genetic analysis of right heart structure and function in 40,000 people	63
Repairing a deleterious domestication variant in a floral regulator gene of tomato by base editing	63
Pervasive biases in proxy genome-wide association studies based on parental history of Alzheimer’s disease	63
Aberrant splicing prediction across human tissues	63
The genomic landscape of pediatric acute lymphoblastic leukemia	62
Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer	61
The future of polygenic risk scores in direct-to-consumer genomics	61
Annotating and prioritizing human non-coding variants with RegulomeDB v.2	61
Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer	61
Using large-scale population-based data to improve disease risk assessment of clinical variants	61
Genome assembly and genetic dissection of a prominent drought-resistant maize germplasm	61
CHOIR improves significance-based detection of cell types and states from single-cell data	61
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health	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
Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles	60
Cellular states are coupled to genomic and viral heterogeneity in HPV-related oropharyngeal carcinoma	60
Decoding the zebrafish genome	59
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders	59
Structural polymorphism and diversity of human segmental duplications	59
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution	58
Genome-wide prediction of disease variant effects with a deep protein language model	58
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study	58
CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses	58
The Ruminant Telomere-to-Telomere (RT2T) Consortium	58
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease	58
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes	58