Nature Genetics

Article	Citations
Toward advances in retinoblastoma genetics in Kenya	868
Epigenetic memory in 3D	648
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	643
Mapping dog behavior	638
Role of gene–gene loops in fine-tuning cross-regulation	580
Machine learning drives genetic discovery for binge eating disorder	534
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	446
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	403
GeneMAP enables discovery of metabolic gene function	396
Cracking the histone code for prostate cancer therapy	386
Problems with dystopian representations in genetic futurism	368
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	365
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	348
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	340
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	333
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	325
An atlas of genetic determinants of forearm fracture	314
Mitochondrial DNA mosaicism in normal human somatic cells	310
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	279
Predicting obesity from childhood	275
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	271
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	267
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	264
Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study	262
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	249

Genome-wide fine-mapping improves identification of causal variants	246
Somatic mutations link focal onset to widespread neurodegeneration in ALS and FTD	245
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	244
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	240
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	230
Rare coding variant analysis for human diseases across biobanks and ancestries	221
Understanding liver repair through space and time	219
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	219
Reactivation of embryonic genetic programs in tissue regeneration and disease	219
Complete genomes of six ape species	214
Insights from three decades of BRCA1/2 modeling in mice	214
Temperature-induced RNA recoding in octopus	210
Criteria for prioritizing trait-relevant genes	208
Defining the transcriptional landscape in the classical subtype of pancreatic cancer	207
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas	206
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	206
Author Correction: Single-cell atlas of the transcriptome and chromatin accessibility in the human retina	203
Chromatin loop proteomics finds a non-catalytic function for a histone demethylase	201
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation	197
Shared genetics of substance use disorders	195
A biology-aware mutation rate model for human germline	186
Genes influence complex traits through environments that vary between geographic regions	185
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	182
Finding cancer mutagens using signature analysis	181
Histone gene editing probes functions of H3K27 modifications in mammals	178
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma	176
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	176
Finding causal genes underlying risk for coronary artery disease	175
Somatic mutations in the stomach	175
Identification of two intrinsic epithelial subtypes of colorectal cancer	175
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	174
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	172
Safeguard repressor locks hepatocyte identity and blocks liver cancer	168
An alternative model for maternal mtDNA inheritance	166
Publisher Correction: APOBEC3 mutagenesis drives therapy resistance in breast cancer	165
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	163
Recycling enhancers	162
Author Correction: Pangenome graphs and their applications in biodiversity genomics	161
When RNA methylation meets DNA methylation	161
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	160
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	160
APOBEC mutagenesis is a common process in normal human small intestine	159
High-content genetic screens identify RNA-based mechanisms to target immune evasion	158
Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor	158
Histone acetylation-dependent clustering of BRD2 instructs transcription dynamics	157
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	157
Publisher Correction: A genetic module boosts grain yield and nitrogen use efficiency by improving nitrate transport in maize	156
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	155
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	154
Genetic associations with educational fields	154

Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	154
Interpreting cis-regulatory interactions from large-scale deep neural networks	153
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion	150
RNA polymerase II dynamics shape enhancer–promoter interactions	149
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	148
Exploring the mammalian metabolome with DeepMet	147
Stromal immune cell signatures predict risk of progression in meningioma	144
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	144
Increasing diversity in genomics requires investment in equitable partnerships and capacity building	142
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	141
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	140
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	140
Bayesian estimation of gene constraint from an evolutionary model with gene features	139
Epigenetically driven and early immune evasion in colorectal cancer evolution	138
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	134
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	134
Proteome-wide model for human disease genetics	132
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	132
Equity, ethics and the promise of partnership in genomic medicine	131
Establishing African genomics and bioinformatics programs through annual regional workshops	131
Redefining teleost phylogeny	129
Somatic recombination of repetitive elements	128
Sarcoma predisposition	127
SBRR1-R variant regulates sheath blight resistance in rice	127
Genetic and biological insights into spontaneous coronary artery dissection	126
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	124
Planting the milestones of human genetics in Senegal	122
Improving estimates of loss-of-function constraint for short genes	122
Nucleotide dependency analysis of genomic language models detects functional elements	120
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	120
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	119
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	119
Polygenic basis for seedless grapes	118
Defining genome access of transcription factors	117
Regulators of androgen receptor activity revealed by CRISPR interference screens	116
Chromatin remembers ancestral DNA damage	116
A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects	116
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes	115
Defining and pursuing diversity in human genetic studies	115
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	112
The genetic origins of multiple sclerosis	111
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	111
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	110
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	110
Single-nucleus DNA sequencing delves into the varied genomic evolution of pancreatic cancer	109
Why genomic diversity should not be framed by census alone	109
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	108
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	107
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	107
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	106
TGF-β builds a dual immune barrier in colorectal cancer by impairing T cell recruitment and instructing immunosuppressive SPP1+ macrophages	105
k-mer-based approaches to unlock genebank genomics for targeted crop improvement	104
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	104
A pangenome of maize provides genetic insights into drought resistance	103
A complete telomere-to-telomere assembly of the maize genome	103
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	103
New genes helped acorn barnacles adapt to a sessile lifestyle	103
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	102
A CT-dimer repeat expansion underlies a rare subtype of frontotemporal lobar degeneration	102
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells	102
Mutation rates across species	101
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish	99
Consensus prediction of cell type labels in single-cell data with popV	98
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	97
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	96
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	94
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	94
A multi-tissue single-cell expression atlas in cattle	93
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	93
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	93
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	93
Profiling oncogenic extra-chromosomal DNA in cancer	92
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq	92
Impact and correction of segmentation errors in spatial transcriptomics	92
Sequencing genetic and epigenetic bases	91
Transposable element evolution in mammals	91
High-throughput screening identifies modulators of gene bursting	91
Deciphering the regulatory logic of a chromatin domain boundary	90
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	90
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	89

Journeys of hope	88
Human Genome Diversity Project data use and implications for the governance of legacy genomic data	87
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	87
Base editing as a therapeutic strategy for somatic repeat expansion diseases	87
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	86
Curbing the risk of therapy-related myeloid neoplasms	86
A tRNA-targeting CRISPR defense	86
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	86
Small nuclear RNA genes in Mendelian disorders	85
Generalists connect microbiomes	85
Extraordinary collateral mutagenesis induced by CX-5461	85
Genetics of sexually dimorphic adipose distribution in humans	84
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	83
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	83
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	83
Mapping interindividual dynamics of innate immune response at single-cell resolution	83
Genomics of the oldest domesticated wheat	83
Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction	82
Human genetic diversity alters off-target outcomes of therapeutic gene editing	82
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	82
Potential approaches to create ultimate genotypes in crops and livestock	81
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	80
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	80
Bipotent transitional liver progenitor cells contribute to liver regeneration	80
Multi-ancestry genome-wide association analyses of polycystic ovary syndrome	80
A compendium of genetic regulatory effects across pig tissues	79
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	79
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer	79
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	79
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	79
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	79
Potato genome diversity	78
Applying compressed Perturb-seq to genetic screens	78
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	78
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	78
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	78
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	78
X chromosome dosage shapes renal cell carcinoma risk	78
A one-stop shop for 3D spatial transcriptomics	78
LINE1 mediates long-range DNA interactions	76
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	75
Genetic insights into depression	75
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	74
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	74
Most large structural variants in cancer genomes can be detected without long reads	74
KDM4C shields breast cancer from the histone scissor cathepsin L	74
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	74
Cell-state-specific enhancer design in hematopoiesis	74
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	74
Genetic contribution to heterogeneity in type 2 diabetes	73
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	73
Our ancestry dictates clonal architecture and skin cancer susceptibility	73
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	73
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	73
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	73
Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome	72
Pathogen perception and deception in plant immunity by kinase fusion proteins	72
The disordered N-terminal domain of DNMT3A recognizes H2AK119ub and is required for postnatal development	72
Scalable and accurate rare variant meta-analysis with Meta-SAIGE	72
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	72
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	72
Deep learning model improves COPD risk prediction and gene discovery	72
Interpretable, flexible and spatially aware integration of multiple spatial transcriptomics datasets from diverse sources	71
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	70
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	70
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	70
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	70
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	69
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	69
Functional analysis of cancer-associated germline risk variants	69
Mapping extrachromosomal DNA amplifications during cancer progression	68
Childhood brain tumors instruct cranial hematopoiesis and immunotolerance	68
Exploring the genetic overlap between twelve psychiatric disorders	68
Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities	68
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	68
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	68
DNA methylation provides molecular links underlying complex traits	67
A molecular map of T cell activation gives insights into immune disease	67
Engineering extrachromosomal DNA	67
Activating the dark genome to illuminate cancer vaccine targets	66
Genome synteny reveals hidden enhancer conservation	66
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	65
RNA Pol II enters the ring of cohesin-mediated loop extrusion	65
Borzoi decodes the complex DNA signals governing gene regulation	65
Single-cell mtDNA dynamics in tumors is driven by coregulation of nuclear and mitochondrial genomes	65
Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells	65
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	65
Measurement and clinical interpretation of CRISPR off-targets	64
How cauliflower got its curd	64
Functional dissection of m6A in cancer	64
Decoding the zebrafish genome	64
Somatic mutations at scale	64
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution	64
The Ruminant Telomere-to-Telomere (RT2T) Consortium	63
Genome assembly and genetic dissection of a prominent drought-resistant maize germplasm	63