Nature Genetics

Article	Citations
Toward advances in retinoblastoma genetics in Kenya	927
Epigenetic memory in 3D	727
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	715
Mapping dog behavior	590
Role of gene–gene loops in fine-tuning cross-regulation	484
Machine learning drives genetic discovery for binge eating disorder	444
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	437
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	392
GeneMAP enables discovery of metabolic gene function	374
Predicting obesity from childhood	349
Cracking the histone code for prostate cancer therapy	337
Criteria for prioritizing trait-relevant genes	302
Defining the transcriptional landscape in the classical subtype of pancreatic cancer	295
Complete genomes of six ape species	295
Chromatin loop proteomics finds a non-catalytic function for a histone demethylase	278
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas	273
Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study	271
Somatic mutations link focal onset to widespread neurodegeneration in ALS and FTD	259
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	256
Author Correction: Single-cell atlas of the transcriptome and chromatin accessibility in the human retina	254
Understanding liver repair through space and time	248
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation	246
Genome-wide fine-mapping improves identification of causal variants	244
Genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin	243
Advances and challenges of splicing prediction with AI	240

Insights from three decades of BRCA1/2 modeling in mice	230
Reactivation of embryonic genetic programs in tissue regeneration and disease	229
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	228
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	226
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	223
An atlas of genetic determinants of forearm fracture	223
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	221
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	220
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	218
Mitochondrial DNA mosaicism in normal human somatic cells	203
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	202
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	198
Problems with dystopian representations in genetic futurism	198
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	198
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	196
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	196
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	195
Temperature-induced RNA recoding in octopus	195
Rare coding variant analysis for human diseases across biobanks and ancestries	190
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	190
Shared genetics of substance use disorders	183
A biology-aware mutation rate model for human germline	182
Genes influence complex traits through environments that vary between geographic regions	181
Somatic mutations in the stomach	180
Finding cancer mutagens using signature analysis	180
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	180
High-content genetic screens identify RNA-based mechanisms to target immune evasion	179
Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor	177
Publisher Correction: A genetic module boosts grain yield and nitrogen use efficiency by improving nitrate transport in maize	177
Genetic associations with educational fields	175
Recycling enhancers	173
Finding causal genes underlying risk for coronary artery disease	170
Publisher Correction: APOBEC3 mutagenesis drives therapy resistance in breast cancer	169
The emergence of metastasis in colorectal cancer	169
Author Correction: Pangenome graphs and their applications in biodiversity genomics	168
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	165
Exploring the mammalian metabolome with DeepMet	163
Safeguard repressor locks hepatocyte identity and blocks liver cancer	162
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	162
Stromal immune cell signatures predict risk of progression in meningioma	162
An alternative model for maternal mtDNA inheritance	157
Histone acetylation-dependent clustering of BRD2 instructs transcription dynamics	155
APOBEC mutagenesis is a common process in normal human small intestine	154
Establishing African genomics and bioinformatics programs through annual regional workshops	153
When RNA methylation meets DNA methylation	152
Epigenetically driven and early immune evasion in colorectal cancer evolution	151
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	149
Lineage tracing from cellular heritage to disease destiny	149
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	145
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	144

Bayesian estimation of gene constraint from an evolutionary model with gene features	143
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	141
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	140
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	137
Interpreting cis-regulatory interactions from large-scale deep neural networks	136
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma	134
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion	134
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	132
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	132
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	130
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	129
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	128
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	127
Proteome-wide model for human disease genetics	126
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	126
RNA polymerase II dynamics shape enhancer–promoter interactions	124
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	123
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	122
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	122
Equity, ethics and the promise of partnership in genomic medicine	121
Somatic recombination of repetitive elements	119
Redefining teleost phylogeny	119
Sarcoma predisposition	117
SBRR1-R variant regulates sheath blight resistance in rice	117
Genetic and biological insights into spontaneous coronary artery dissection	115
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	114
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	113
The PRECISE European initiative for cancer-vulnerability mapping and prediction	113
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	113
Defining and pursuing diversity in human genetic studies	112
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	112
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	112
Toward a framework for measuring the impact of ELSI research	112
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq	112
A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects	112
Planting the milestones of human genetics in Senegal	111
Improving estimates of loss-of-function constraint for short genes	111
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	111
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	110
Single-nucleus DNA sequencing delves into the varied genomic evolution of pancreatic cancer	110
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	110
The genetic origins of multiple sclerosis	110
Defining genome access of transcription factors	105
Polygenic basis for seedless grapes	105
Chromatin remembers ancestral DNA damage	103
Regulators of androgen receptor activity revealed by CRISPR interference screens	103
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	102
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	102
A CT-dimer repeat expansion underlies a rare subtype of frontotemporal lobar degeneration	101
Mutation rates across species	101
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	100
Why genomic diversity should not be framed by census alone	100
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	99
k-mer-based approaches to unlock genebank genomics for targeted crop improvement	98
Genomic and genetic dissection of drought tolerance in a resilient wheat germplasm JIN50	98
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	98
Mitochondrial capsules mitigate mitochondrial dysfunction	97
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	97
New genes helped acorn barnacles adapt to a sessile lifestyle	96
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes	96
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	95
A multi-tissue single-cell expression atlas in cattle	94
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	94
Impact and correction of segmentation errors in spatial transcriptomics	93
Nucleotide dependency analysis of genomic language models detects functional elements	92
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	92
A pangenome of maize provides genetic insights into drought resistance	91
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	91
Mediators of cell fate decisions in human fetal kidney development identified using spatial transcriptomics	90
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	90
Consensus prediction of cell type labels in single-cell data with popV	90
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	89
A complete telomere-to-telomere assembly of the maize genome	89
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	89
TGF-β builds a dual immune barrier in colorectal cancer by impairing T cell recruitment and instructing immunosuppressive SPP1+ macrophages	88
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	88
Profiling oncogenic extra-chromosomal DNA in cancer	88
Transposable element evolution in mammals	87
Sequencing genetic and epigenetic bases	86
Human Genome Diversity Project data use and implications for the governance of legacy genomic data	86

Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	86
Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction	85
Mapping interindividual dynamics of innate immune response at single-cell resolution	85
A tRNA-targeting CRISPR defense	85
Base editing as a therapeutic strategy for somatic repeat expansion diseases	85
High-throughput screening identifies modulators of gene bursting	85
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	84
Generalists connect microbiomes	84
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	84
Curbing the risk of therapy-related myeloid neoplasms	84
Extraordinary collateral mutagenesis induced by CX-5461	83
Genetics of sexually dimorphic adipose distribution in humans	83
Journeys of hope	82
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	82
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	82
Identifying critical lysines in mammalian histone H3 with high-throughput CRISPR prime editing	82
Multi-ancestry genome-wide association analyses of polycystic ovary syndrome	82
Single-cell RNA sequencing of terminal ileal biopsies identifies signatures of Crohn’s disease pathogenesis	82
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	82
Genomics of the oldest domesticated wheat	81
Small nuclear RNA genes in Mendelian disorders	81
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	81
Potential approaches to create ultimate genotypes in crops and livestock	81
Intrinsically disordered regions restrain genomic targeting of RNA and histone demethylases in mammals and plants	80
Human genetic diversity alters off-target outcomes of therapeutic gene editing	80
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	80
Bipotent transitional liver progenitor cells contribute to liver regeneration	80
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	80
The genomic position of an enhancer modulates bursting dynamics of the cognate promoter	80
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	79
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	79
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer	79
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	78
A compendium of genetic regulatory effects across pig tissues	78
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	78
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	77
X chromosome dosage shapes renal cell carcinoma risk	76
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	76
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	76
Applying compressed Perturb-seq to genetic screens	76
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	76
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	76
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	75
Scalable and accurate rare variant meta-analysis with Meta-SAIGE	75
KDM4C shields breast cancer from the histone scissor cathepsin L	75
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	75
Cell-state-specific enhancer design in hematopoiesis	74
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	74
Childhood brain tumors instruct cranial hematopoiesis and immunotolerance	73
Our ancestry dictates clonal architecture and skin cancer susceptibility	73
Pathogen perception and deception in plant immunity by kinase fusion proteins	73
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	73
LINE1 mediates long-range DNA interactions	73
Deep learning model improves COPD risk prediction and gene discovery	73
High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia	72
A one-stop shop for 3D spatial transcriptomics	72
Population-level super-pangenome reveals genome evolution and empowers precision breeding in watermelon	72
Genetic contribution to heterogeneity in type 2 diabetes	72
Estimation of direct and indirect polygenic effects and gene–environment interactions using polygenic scores in case–parent trio studies	71
Interpretable, flexible and spatially aware integration of multiple spatial transcriptomics datasets from diverse sources	71
Genetic insights into depression	71
Accurate, scalable and cross-platform cell identification for high-resolution spatial transcriptomics	71
Functional analysis of cancer-associated germline risk variants	71
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	70
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	70
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	70
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	69
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	69
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	68
Most large structural variants in cancer genomes can be detected without long reads	68
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	68
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	68
Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome	68
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	68
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	67
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	67
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	66
Exploring the genetic overlap between twelve psychiatric disorders	66
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	66
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	66
Mapping extrachromosomal DNA amplifications during cancer progression	66
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	66
Engineering extrachromosomal DNA	65
DNA methylation provides molecular links underlying complex traits	65
Author Correction: LINE-1 transcription activates long-range gene expression	65
Diverse mutations in autism-related genes and their expression in the developing brain	65
Genome synteny reveals hidden enhancer conservation	65
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	64
Charles David Allis (1951–2023)	64
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	64
Towards trustworthiness of precision medicine research for people with disabilities	64
Borzoi decodes the complex DNA signals governing gene regulation	64
Somatic mutations at scale	63
How cauliflower got its curd	63
Functional dissection of m6A in cancer	63