Nature Genetics

Article	Citations
Toward advances in retinoblastoma genetics in Kenya	701
Epigenetic memory in 3D	693
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	569
Mapping dog behavior	475
Role of gene–gene loops in fine-tuning cross-regulation	424
Machine learning drives genetic discovery for binge eating disorder	423
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	385
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	364
GeneMAP enables discovery of metabolic gene function	346
Predicting obesity from childhood	341
Cracking the histone code for prostate cancer therapy	327
Problems with dystopian representations in genetic futurism	295
Criteria for prioritizing trait-relevant genes	289
Defining the transcriptional landscape in the classical subtype of pancreatic cancer	269
Complete genomes of six ape species	264
An atlas of genetic determinants of forearm fracture	262
Chromatin loop proteomics finds a non-catalytic function for a histone demethylase	256
Reactivation of embryonic genetic programs in tissue regeneration and disease	245
Temperature-induced RNA recoding in octopus	241
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas	235
Insights from three decades of BRCA1/2 modeling in mice	222
Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study	222
Somatic mutations link focal onset to widespread neurodegeneration in ALS and FTD	219
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	218
Genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin	218

Understanding liver repair through space and time	211
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	194
Author Correction: Single-cell atlas of the transcriptome and chromatin accessibility in the human retina	193
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	191
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	191
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	190
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	186
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	185
Mitochondrial DNA mosaicism in normal human somatic cells	184
Genome-wide fine-mapping improves identification of causal variants	180
Advances and challenges of splicing prediction with AI	177
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	175
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	174
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	174
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	173
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	170
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation	170
Rare coding variant analysis for human diseases across biobanks and ancestries	166
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	165
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	161
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	156
Shared genetics of substance use disorders	155
A biology-aware mutation rate model for human germline	155
Genes influence complex traits through environments that vary between geographic regions	151
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	149
Identification of two intrinsic epithelial subtypes of colorectal cancer	148
Finding cancer mutagens using signature analysis	148
Somatic mutations in the stomach	141
High-content genetic screens identify RNA-based mechanisms to target immune evasion	140
Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor	139
Publisher Correction: A genetic module boosts grain yield and nitrogen use efficiency by improving nitrate transport in maize	136
Genetic associations with educational fields	135
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	130
Recycling enhancers	130
Finding causal genes underlying risk for coronary artery disease	129
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	126
An alternative model for maternal mtDNA inheritance	126
The emergence of metastasis in colorectal cancer	125
Author Correction: Pangenome graphs and their applications in biodiversity genomics	124
Publisher Correction: APOBEC3 mutagenesis drives therapy resistance in breast cancer	124
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	121
Exploring the mammalian metabolome with DeepMet	119
Stromal immune cell signatures predict risk of progression in meningioma	116
Interpreting cis-regulatory interactions from large-scale deep neural networks	115
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion	115
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	112
Safeguard repressor locks hepatocyte identity and blocks liver cancer	110
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	109
APOBEC mutagenesis is a common process in normal human small intestine	109
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	109

A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	109
When RNA methylation meets DNA methylation	109
Epigenetically driven and early immune evasion in colorectal cancer evolution	107
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	107
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	103
Bayesian estimation of gene constraint from an evolutionary model with gene features	102
Histone acetylation-dependent clustering of BRD2 instructs transcription dynamics	102
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma	101
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	101
RNA polymerase II dynamics shape enhancer–promoter interactions	101
Lineage tracing from cellular heritage to disease destiny	99
Proteome-wide model for human disease genetics	98
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	97
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	97
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	96
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	95
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	95
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	94
Establishing African genomics and bioinformatics programs through annual regional workshops	93
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	92
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	92
Redefining teleost phylogeny	92
Equity, ethics and the promise of partnership in genomic medicine	92
Somatic recombination of repetitive elements	90
SBRR1-R variant regulates sheath blight resistance in rice	90
Genetic and biological insights into spontaneous coronary artery dissection	89
Sarcoma predisposition	89
Improving estimates of loss-of-function constraint for short genes	87
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	87
Planting the milestones of human genetics in Senegal	86
The genetic origins of multiple sclerosis	86
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	85
Single-nucleus DNA sequencing delves into the varied genomic evolution of pancreatic cancer	85
Polygenic basis for seedless grapes	84
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	84
Defining genome access of transcription factors	83
Regulators of androgen receptor activity revealed by CRISPR interference screens	82
Mutation rates across species	82
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	82
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	82
Chromatin remembers ancestral DNA damage	82
New genes helped acorn barnacles adapt to a sessile lifestyle	81
Why genomic diversity should not be framed by census alone	81
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	81
A CT-dimer repeat expansion underlies a rare subtype of frontotemporal lobar degeneration	81
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	80
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	79
Defining and pursuing diversity in human genetic studies	79
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	79
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	79
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	79
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	78
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	78
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq	78
Nucleotide dependency analysis of genomic language models detects functional elements	78
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	77
k-mer-based approaches to unlock genebank genomics for targeted crop improvement	77
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	77
Genomic and genetic dissection of drought tolerance in a resilient wheat germplasm JIN50	76
Mitochondrial capsules mitigate mitochondrial dysfunction	75
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	75
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	74
Consensus prediction of cell type labels in single-cell data with popV	74
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	73
A pangenome of maize provides genetic insights into drought resistance	73
A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects	72
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	72
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes	72
A multi-tissue single-cell expression atlas in cattle	71
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	71
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	70
A complete telomere-to-telomere assembly of the maize genome	69
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	69
Impact and correction of segmentation errors in spatial transcriptomics	69
Deciphering the regulatory logic of a chromatin domain boundary	68
Profiling oncogenic extra-chromosomal DNA in cancer	68
Sequencing genetic and epigenetic bases	68
TGF-β builds a dual immune barrier in colorectal cancer by impairing T cell recruitment and instructing immunosuppressive SPP1+ macrophages	68
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	68
Transposable element evolution in mammals	68

Human Genome Diversity Project data use and implications for the governance of legacy genomic data	67
Base editing as a therapeutic strategy for somatic repeat expansion diseases	67
Journeys of hope	67
High-throughput screening identifies modulators of gene bursting	66
A tRNA-targeting CRISPR defense	66
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	66
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	65
Multi-ancestry genome-wide association analyses of polycystic ovary syndrome	65
Mapping interindividual dynamics of innate immune response at single-cell resolution	65
Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction	64
Generalists connect microbiomes	63
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	63
Curbing the risk of therapy-related myeloid neoplasms	63
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	63
Small nuclear RNA genes in Mendelian disorders	62
Extraordinary collateral mutagenesis induced by CX-5461	62
Genomics of the oldest domesticated wheat	61
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	61
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	61
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	60
A compendium of genetic regulatory effects across pig tissues	60
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	58
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	58
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	58
Potential approaches to create ultimate genotypes in crops and livestock	58
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	58
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	57
Genetics of sexually dimorphic adipose distribution in humans	57
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	57
Single-cell RNA sequencing of terminal ileal biopsies identifies signatures of Crohn’s disease pathogenesis	57
Bipotent transitional liver progenitor cells contribute to liver regeneration	56
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer	56
Human genetic diversity alters off-target outcomes of therapeutic gene editing	56
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	56
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	56
Potato genome diversity	56
X chromosome dosage shapes renal cell carcinoma risk	55
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	55
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	54
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	54
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	54
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	54
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	54
Applying compressed Perturb-seq to genetic screens	54
Scalable and accurate rare variant meta-analysis with Meta-SAIGE	53
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	53
KDM4C shields breast cancer from the histone scissor cathepsin L	53
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	53
Cell-state-specific enhancer design in hematopoiesis	53
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	53
Pathogen perception and deception in plant immunity by kinase fusion proteins	52
Population-level super-pangenome reveals genome evolution and empowers precision breeding in watermelon	52
Childhood brain tumors instruct cranial hematopoiesis and immunotolerance	52
LINE1 mediates long-range DNA interactions	52
Deep learning model improves COPD risk prediction and gene discovery	52
Our ancestry dictates clonal architecture and skin cancer susceptibility	52
High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia	51
Functional analysis of cancer-associated germline risk variants	51
A one-stop shop for 3D spatial transcriptomics	51
Genetic contribution to heterogeneity in type 2 diabetes	51
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	51
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	50
Estimation of direct and indirect polygenic effects and gene–environment interactions using polygenic scores in case–parent trio studies	50
Genetic insights into depression	50
Accurate, scalable and cross-platform cell identification for high-resolution spatial transcriptomics	50
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	49
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	49
Exploring the genetic overlap between twelve psychiatric disorders	49
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	48
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	48
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	48
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	48
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	48
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	47
Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome	47
Mapping extrachromosomal DNA amplifications during cancer progression	47
Most large structural variants in cancer genomes can be detected without long reads	47
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	47
Interpretable, flexible and spatially aware integration of multiple spatial transcriptomics datasets from diverse sources	46
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	46
Borzoi decodes the complex DNA signals governing gene regulation	45
Engineering extrachromosomal DNA	45
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	45
Genome synteny reveals hidden enhancer conservation	45
DNA methylation provides molecular links underlying complex traits	45
How cauliflower got its curd	44
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	44
Somatic mutations at scale	44
Diverse mutations in autism-related genes and their expression in the developing brain	43
Towards trustworthiness of precision medicine research for people with disabilities	43
Functional dissection of m6A in cancer	43
Author Correction: LINE-1 transcription activates long-range gene expression	43
Charles David Allis (1951–2023)	42
RNA Pol II enters the ring of cohesin-mediated loop extrusion	42
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder	42