Nature Genetics

Article	Citations
Toward advances in retinoblastoma genetics in Kenya	1852
Epigenetic memory in 3D	1206
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	720
Mapping dog behavior	566
Temperature-induced RNA recoding in octopus	535
Role of gene–gene loops in fine-tuning cross-regulation	527
Machine learning drives genetic discovery for binge eating disorder	491
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	489
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	486
GeneMAP enables discovery of metabolic gene function	449
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas	447
Predicting obesity from childhood	415
Problems with dystopian representations in genetic futurism	385
Complete genomes of six ape species	384
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	338
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	329
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	315
Cracking the histone code for prostate cancer therapy	315
Understanding liver repair through space and time	305
Defining the transcriptional landscape in the classical subtype of pancreatic cancer	301
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	297
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	296
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	289
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	283
Rare coding variant analysis for human diseases across biobanks and ancestries	281

Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	277
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	275
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	270
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	247
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	242
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	234
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	234
Mitochondrial DNA mosaicism in normal human somatic cells	226
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	225
Reactivation of embryonic genetic programs in tissue regeneration and disease	224
An atlas of genetic determinants of forearm fracture	216
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	211
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	205
Shared genetics of substance use disorders	203
A biology-aware mutation rate model for human germline	197
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	197
Genes influence complex traits through environments that vary between geographic regions	197
Finding cancer mutagens using signature analysis	194
Identification of two intrinsic epithelial subtypes of colorectal cancer	193
Somatic mutations in the stomach	193
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome	192
Epigenetically driven and early immune evasion in colorectal cancer evolution	190
Histone gene editing probes functions of H3K27 modifications in mammals	186
Author Correction: Pangenome graphs and their applications in biodiversity genomics	182
Safeguard repressor locks hepatocyte identity and blocks liver cancer	181
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	180
When RNA methylation meets DNA methylation	180
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	177
Finding causal genes underlying risk for coronary artery disease	175
Recycling enhancers	175
Increasing diversity in genomics requires investment in equitable partnerships and capacity building	171
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	171
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	170
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	168
An alternative model for maternal mtDNA inheritance	166
Proteome-wide model for human disease genetics	166
Establishing African genomics and bioinformatics programs through annual regional workshops	164
APOBEC mutagenesis is a common process in normal human small intestine	163
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	162
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	162
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	161
RNA polymerase II dynamics shape enhancer–promoter interactions	158
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	156
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	154
Genetic associations with educational fields	152
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	151
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	151
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	151
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	149
Bayesian estimation of gene constraint from an evolutionary model with gene features	146

H3K27me3 conditions chemotolerance in triple-negative breast cancer	145
Interpreting cis-regulatory interactions from large-scale deep neural networks	144
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	144
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	144
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors	144
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function	143
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	137
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	136
Equity, ethics and the promise of partnership in genomic medicine	136
Mutation rates across species	134
Redefining teleost phylogeny	134
Somatic recombination of repetitive elements	134
Sarcoma predisposition	133
SBRR1-R variant regulates sheath blight resistance in rice	133
Why genomic diversity should not be framed by census alone	131
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	130
Genetic and biological insights into spontaneous coronary artery dissection	130
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	130
The genetic origins of multiple sclerosis	130
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	129
Improving estimates of loss-of-function constraint for short genes	129
Planting the milestones of human genetics in Senegal	128
Indirect paths from genetics to education	127
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	127
Polygenic basis for seedless grapes	127
Defining genome access of transcription factors	125
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	124
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	122
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	122
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells	121
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish	120
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	120
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq	120
New genes helped acorn barnacles adapt to a sessile lifestyle	119
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	119
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	119
Nucleotide dependency analysis of genomic language models detects functional elements	119
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes	117
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	117
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	115
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	115
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	114
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	110
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	110
A multi-tissue single-cell expression atlas in cattle	109
Defining and pursuing diversity in human genetic studies	108
Consensus prediction of cell type labels in single-cell data with popV	108
TGF-β builds a dual immune barrier in colorectal cancer by impairing T cell recruitment and instructing immunosuppressive SPP1+ macrophages	107
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	106
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	105
Regulators of androgen receptor activity revealed by CRISPR interference screens	105
A pangenome of maize provides genetic insights into drought resistance	104
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	104
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	103
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	103
High-throughput screening identifies modulators of gene bursting	103
A complete telomere-to-telomere assembly of the maize genome	103
Genomics of the oldest domesticated wheat	103
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	103
Profiling oncogenic extra-chromosomal DNA in cancer	103
Sequencing genetic and epigenetic bases	102
Transposable element evolution in mammals	102
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	100
Base editing as a therapeutic strategy for somatic repeat expansion diseases	96
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	96
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	95
LINE1 are spliced in non-canonical transcript variants to regulate T cell quiescence and exhaustion	95
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	95
Bipotent transitional liver progenitor cells contribute to liver regeneration	95
Human Genome Diversity Project data use and implications for the governance of legacy genomic data	94
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	94
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	94
Human genetic diversity alters off-target outcomes of therapeutic gene editing	94
Extraordinary collateral mutagenesis induced by CX-5461	94
Genetics of sexually dimorphic adipose distribution in humans	93
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	93
Potential approaches to create ultimate genotypes in crops and livestock	93
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	92
Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction	91

Multi-ancestry genome-wide association analyses of polycystic ovary syndrome	91
Mapping interindividual dynamics of innate immune response at single-cell resolution	90
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	90
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	90
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer	90
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	90
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	89
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	89
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	88
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	88
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	88
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	88
A compendium of genetic regulatory effects across pig tissues	88
Potato genome diversity	86
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	86
X chromosome dosage shapes renal cell carcinoma risk	86
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	85
A one-stop shop for 3D spatial transcriptomics	84
Applying compressed Perturb-seq to genetic screens	83
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	82
LINE1 mediates long-range DNA interactions	82
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	82
Genetic insights into depression	81
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	80
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	80
Most large structural variants in cancer genomes can be detected without long reads	80
Scalable and accurate rare variant meta-analysis with Meta-SAIGE	78
KDM4C shields breast cancer from the histone scissor cathepsin L	78
Deep learning model improves COPD risk prediction and gene discovery	78
Cell-state-specific enhancer design in hematopoiesis	77
Genetic contribution to heterogeneity in type 2 diabetes	76
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	76
Our ancestry dictates clonal architecture and skin cancer susceptibility	76
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	76
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	75
Mapping extrachromosomal DNA amplifications during cancer progression	74
Pathogen perception and deception in plant immunity by kinase fusion proteins	74
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	74
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	74
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	72
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	72
Exploring the genetic overlap between twelve psychiatric disorders	71
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	71
Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking	71
The disordered N-terminal domain of DNMT3A recognizes H2AK119ub and is required for postnatal development	71
Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities	71
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	71
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank	70
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	70
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	70
Functional analysis of cancer-associated germline risk variants	69
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	69
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	69
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	69
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	68
Diverse mutations in autism-related genes and their expression in the developing brain	68
DNA methylation provides molecular links underlying complex traits	67
A molecular map of T cell activation gives insights into immune disease	67
Activating the dark genome to illuminate cancer vaccine targets	66
Genome synteny reveals hidden enhancer conservation	66
Engineering extrachromosomal DNA	66
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	65
Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells	65
How cauliflower got its curd	65
Author Correction: LINE-1 transcription activates long-range gene expression	65
RNA Pol II enters the ring of cohesin-mediated loop extrusion	65
Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer	64
Borzoi decodes the complex DNA signals governing gene regulation	64
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	64
Aberrant splicing prediction across human tissues	64
Pervasive biases in proxy genome-wide association studies based on parental history of Alzheimer’s disease	64
Charles David Allis (1951–2023)	64
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	63
RNA m6A regulates transcription via DNA demethylation and chromatin accessibility	63
Annotating and prioritizing human non-coding variants with RegulomeDB v.2	63
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes	63
Decoding the zebrafish genome	63
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology	62
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis	62
Using large-scale population-based data to improve disease risk assessment of clinical variants	62
The future of polygenic risk scores in direct-to-consumer genomics	62
Measurement and clinical interpretation of CRISPR off-targets	62
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health	62
Single-cell mtDNA dynamics in tumors is driven by coregulation of nuclear and mitochondrial genomes	62
Towards trustworthiness of precision medicine research for people with disabilities	61
Somatic mutations at scale	61
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution	61
SARS-CoV-2 diagnostic testing rates determine the sensitivity of genomic surveillance programs	61
Structural polymorphism and diversity of human segmental duplications	61
Repairing a deleterious domestication variant in a floral regulator gene of tomato by base editing	61
The Ruminant Telomere-to-Telomere (RT2T) Consortium	60
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study	60
Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles	60
Multiomic analysis of homologous recombination-deficient end-stage high-grade serous ovarian cancer	60
CHOIR improves significance-based detection of cell types and states from single-cell data	60