Nature Genetics

Article	Citations
Toward advances in retinoblastoma genetics in Kenya	887
Epigenetic memory in 3D	667
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	660
Mapping dog behavior	548
Role of gene–gene loops in fine-tuning cross-regulation	456
Machine learning drives genetic discovery for binge eating disorder	414
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	410
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	388
GeneMAP enables discovery of metabolic gene function	376
Predicting obesity from childhood	374
Cracking the histone code for prostate cancer therapy	348
Problems with dystopian representations in genetic futurism	334
Criteria for prioritizing trait-relevant genes	319
Defining the transcriptional landscape in the classical subtype of pancreatic cancer	318
Complete genomes of six ape species	286
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	280
An atlas of genetic determinants of forearm fracture	272
Author Correction: Single-cell atlas of the transcriptome and chromatin accessibility in the human retina	268
Chromatin loop proteomics finds a non-catalytic function for a histone demethylase	254
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation	253
Temperature-induced RNA recoding in octopus	252
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas	250
Insights from three decades of BRCA1/2 modeling in mice	232
Genome-wide fine-mapping improves identification of causal variants	231
Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study	230

Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	228
Somatic mutations link focal onset to widespread neurodegeneration in ALS and FTD	228
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	220
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	216
Reactivation of embryonic genetic programs in tissue regeneration and disease	214
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	213
Understanding liver repair through space and time	211
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	209
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	209
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	208
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	208
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	207
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	207
Mitochondrial DNA mosaicism in normal human somatic cells	189
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	187
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	184
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	182
Rare coding variant analysis for human diseases across biobanks and ancestries	181
Shared genetics of substance use disorders	180
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	180
A biology-aware mutation rate model for human germline	180
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	179
Genes influence complex traits through environments that vary between geographic regions	179
Identification of two intrinsic epithelial subtypes of colorectal cancer	178
Histone gene editing probes functions of H3K27 modifications in mammals	178
Finding cancer mutagens using signature analysis	178
Somatic mutations in the stomach	173
High-content genetic screens identify RNA-based mechanisms to target immune evasion	172
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	168
Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor	168
APOBEC mutagenesis is a common process in normal human small intestine	168
Publisher Correction: A genetic module boosts grain yield and nitrogen use efficiency by improving nitrate transport in maize	168
Histone acetylation-dependent clustering of BRD2 instructs transcription dynamics	168
Genetic associations with educational fields	167
Safeguard repressor locks hepatocyte identity and blocks liver cancer	164
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	164
Proteome-wide model for human disease genetics	163
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	160
Interpreting cis-regulatory interactions from large-scale deep neural networks	160
RNA polymerase II dynamics shape enhancer–promoter interactions	159
Recycling enhancers	158
Finding causal genes underlying risk for coronary artery disease	157
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	155
An alternative model for maternal mtDNA inheritance	153
Epigenetically driven and early immune evasion in colorectal cancer evolution	152
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	151
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion	151
Establishing African genomics and bioinformatics programs through annual regional workshops	150
The emergence of metastasis in colorectal cancer	148
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	145

Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	144
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	144
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma	143
Increasing diversity in genomics requires investment in equitable partnerships and capacity building	143
Publisher Correction: APOBEC3 mutagenesis drives therapy resistance in breast cancer	142
Author Correction: Pangenome graphs and their applications in biodiversity genomics	141
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	139
Exploring the mammalian metabolome with DeepMet	138
Stromal immune cell signatures predict risk of progression in meningioma	136
Bayesian estimation of gene constraint from an evolutionary model with gene features	135
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	134
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	133
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	132
When RNA methylation meets DNA methylation	132
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	129
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	126
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	124
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	123
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	123
Equity, ethics and the promise of partnership in genomic medicine	122
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	122
Redefining teleost phylogeny	122
SBRR1-R variant regulates sheath blight resistance in rice	121
Somatic recombination of repetitive elements	121
Sarcoma predisposition	121
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	120
Genetic and biological insights into spontaneous coronary artery dissection	120
Improving estimates of loss-of-function constraint for short genes	119
Planting the milestones of human genetics in Senegal	118
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	117
Polygenic basis for seedless grapes	116
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	116
Defining genome access of transcription factors	113
Chromatin remembers ancestral DNA damage	113
Regulators of androgen receptor activity revealed by CRISPR interference screens	112
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	111
A CT-dimer repeat expansion underlies a rare subtype of frontotemporal lobar degeneration	111
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	110
Mutation rates across species	110
New genes helped acorn barnacles adapt to a sessile lifestyle	109
A multi-tissue single-cell expression atlas in cattle	108
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	108
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	107
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	106
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	106
Genomic and genetic dissection of drought tolerance in a resilient wheat germplasm JIN50	105
A pangenome of maize provides genetic insights into drought resistance	105
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	105
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	104
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	104
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	104
The genetic origins of multiple sclerosis	104
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	103
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq	103
Single-nucleus DNA sequencing delves into the varied genomic evolution of pancreatic cancer	103
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	99
k-mer-based approaches to unlock genebank genomics for targeted crop improvement	99
Why genomic diversity should not be framed by census alone	99
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	95
Consensus prediction of cell type labels in single-cell data with popV	95
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	95
Defining and pursuing diversity in human genetic studies	95
Impact and correction of segmentation errors in spatial transcriptomics	95
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	94
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	94
A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects	94
TGF-β builds a dual immune barrier in colorectal cancer by impairing T cell recruitment and instructing immunosuppressive SPP1+ macrophages	93
Nucleotide dependency analysis of genomic language models detects functional elements	93
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	92
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	92
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	92
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes	92
A complete telomere-to-telomere assembly of the maize genome	91
Profiling oncogenic extra-chromosomal DNA in cancer	91
High-throughput screening identifies modulators of gene bursting	90
Transposable element evolution in mammals	89
Sequencing genetic and epigenetic bases	89
Deciphering the regulatory logic of a chromatin domain boundary	88
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	87
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	87

Journeys of hope	87
Human Genome Diversity Project data use and implications for the governance of legacy genomic data	86
Base editing as a therapeutic strategy for somatic repeat expansion diseases	86
A tRNA-targeting CRISPR defense	85
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
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	84
Genetics of sexually dimorphic adipose distribution in humans	83
Small nuclear RNA genes in Mendelian disorders	83
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	83
Extraordinary collateral mutagenesis induced by CX-5461	82
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	82
Genomics of the oldest domesticated wheat	82
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	81
Multi-ancestry genome-wide association analyses of polycystic ovary syndrome	81
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	81
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	81
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	81
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer	80
Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction	80
Mapping interindividual dynamics of innate immune response at single-cell resolution	80
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	80
A compendium of genetic regulatory effects across pig tissues	79
Bipotent transitional liver progenitor cells contribute to liver regeneration	79
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	79
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	79
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	79
Human genetic diversity alters off-target outcomes of therapeutic gene editing	78
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	78
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	78
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	77
Potential approaches to create ultimate genotypes in crops and livestock	77
Potato genome diversity	76
KDM4C shields breast cancer from the histone scissor cathepsin L	75
Applying compressed Perturb-seq to genetic screens	75
X chromosome dosage shapes renal cell carcinoma risk	75
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	75
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	75
A one-stop shop for 3D spatial transcriptomics	75
Cell-state-specific enhancer design in hematopoiesis	75
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	75
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	75
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	74
Deep learning model improves COPD risk prediction and gene discovery	74
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	74
Our ancestry dictates clonal architecture and skin cancer susceptibility	74
High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia	73
Childhood brain tumors instruct cranial hematopoiesis and immunotolerance	73
Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome	73
Population-level super-pangenome reveals genome evolution and empowers precision breeding in watermelon	73
Exploring the genetic overlap between twelve psychiatric disorders	73
Interpretable, flexible and spatially aware integration of multiple spatial transcriptomics datasets from diverse sources	73
LINE1 mediates long-range DNA interactions	73
Pathogen perception and deception in plant immunity by kinase fusion proteins	73
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	72
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	72
Genetic contribution to heterogeneity in type 2 diabetes	72
Functional analysis of cancer-associated germline risk variants	72
Accurate, scalable and cross-platform cell identification for high-resolution spatial transcriptomics	71
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	71
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	71
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	70
Genetic insights into depression	70
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	70
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	70
Most large structural variants in cancer genomes can be detected without long reads	70
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	69
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	69
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	68
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	68
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	68
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	68
Scalable and accurate rare variant meta-analysis with Meta-SAIGE	67
DNA methylation provides molecular links underlying complex traits	67
Mapping extrachromosomal DNA amplifications during cancer progression	67
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	67
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	67
Genome synteny reveals hidden enhancer conservation	66
Engineering extrachromosomal DNA	66
Functional dissection of m6A in cancer	65
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	65
Borzoi decodes the complex DNA signals governing gene regulation	65
Somatic mutations at scale	65
Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells	65
Activating the dark genome to illuminate cancer vaccine targets	65
How cauliflower got its curd	65
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	65
The future of polygenic risk scores in direct-to-consumer genomics	64
Diverse mutations in autism-related genes and their expression in the developing brain	64
Author Correction: LINE-1 transcription activates long-range gene expression	64
The Ruminant Telomere-to-Telomere (RT2T) Consortium	64
Genetic analysis of right heart structure and function in 40,000 people	63
Charles David Allis (1951–2023)	63
Towards trustworthiness of precision medicine research for people with disabilities	63