Nature Genetics

Article	Citations
Toward advances in retinoblastoma genetics in Kenya	1910
Epigenetic memory in 3D	757
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	576
Temperature-induced RNA recoding in octopus	550
Mapping dog behavior	550
Role of gene–gene loops in fine-tuning cross-regulation	511
Machine learning drives genetic discovery for binge eating disorder	499
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	466
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	439
GeneMAP enables discovery of metabolic gene function	396
Understanding liver repair through space and time	395
Cracking the histone code for prostate cancer therapy	346
Problems with dystopian representations in genetic futurism	336
Complete genomes of six ape species	329
Predicting obesity from childhood	329
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas	315
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize	311
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease	307
Reactivation of embryonic genetic programs in tissue regeneration and disease	307
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation	303
An atlas of genetic determinants of forearm fracture	291
Criteria for prioritizing trait-relevant genes	289
Defining the transcriptional landscape in the classical subtype of pancreatic cancer	284
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	282
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	280

Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	260
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	245
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	240
Mitochondrial DNA mosaicism in normal human somatic cells	239
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	239
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	233
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	232
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	224
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	214
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	209
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	208
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes	208
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	207
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	205
Rare coding variant analysis for human diseases across biobanks and ancestries	204
Shared genetics of substance use disorders	199
A biology-aware mutation rate model for human germline	198
Genes influence complex traits through environments that vary between geographic regions	197
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors	192
Finding cancer mutagens using signature analysis	191
Identification of two intrinsic epithelial subtypes of colorectal cancer	189
Somatic mutations in the stomach	187
Author Correction: EMPReSS: standardized phenotype screens for functional annotation of the mouse genome	186
Author Correction: Pangenome graphs and their applications in biodiversity genomics	185
Safeguard repressor locks hepatocyte identity and blocks liver cancer	184
Recycling enhancers	184
When RNA methylation meets DNA methylation	184
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk	183
Increasing diversity in genomics requires investment in equitable partnerships and capacity building	182
Histone gene editing probes functions of H3K27 modifications in mammals	176
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	175
Interpreting cis-regulatory interactions from large-scale deep neural networks	173
An alternative model for maternal mtDNA inheritance	173
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks	170
RNA polymerase II dynamics shape enhancer–promoter interactions	170
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	167
Genetic associations with educational fields	166
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice	165
Proteome-wide model for human disease genetics	164
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity	160
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data	160
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice	158
Establishing African genomics and bioinformatics programs through annual regional workshops	157
Epigenetically driven and early immune evasion in colorectal cancer evolution	156
Finding causal genes underlying risk for coronary artery disease	156
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma	155
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction	152
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion	152
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas	151
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon	149

A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen	147
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases	147
APOBEC mutagenesis is a common process in normal human small intestine	147
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits	145
Publisher Correction: APOBEC3 mutagenesis drives therapy resistance in breast cancer	141
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors	139
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer	139
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription	138
H3K27me3 conditions chemotolerance in triple-negative breast cancer	138
Bayesian estimation of gene constraint from an evolutionary model with gene features	138
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns	138
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function	135
Equity, ethics and the promise of partnership in genomic medicine	135
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	135
Redefining teleost phylogeny	134
Mutation rates across species	134
Why genomic diversity should not be framed by census alone	132
Somatic recombination of repetitive elements	132
Sarcoma predisposition	132
SBRR1-R variant regulates sheath blight resistance in rice	132
Genetic and biological insights into spontaneous coronary artery dissection	131
The genetic origins of multiple sclerosis	130
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops	127
Improving estimates of loss-of-function constraint for short genes	126
Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases	126
Indirect paths from genetics to education	125
Planting the milestones of human genetics in Senegal	125
Mathematical modeling of neuroblastoma associates evolutionary patterns with outcomes	124
Defining genome access of transcription factors	123
Polygenic basis for seedless grapes	123
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin	123
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq	122
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells	122
Nucleotide dependency analysis of genomic language models detects functional elements	121
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations	121
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture	120
Coordinated function of paired NLRs confers Yr84-mediated stripe rust resistance in wheat	119
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks	118
Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish	117
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification	117
Defining and pursuing diversity in human genetic studies	116
ChIP-DIP maps binding of hundreds of proteins to DNA simultaneously and identifies diverse gene regulatory elements	116
An eRNA transcription checkpoint for diverse signal-dependent enhancer activation programs	112
A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects	112
TGF-β builds a dual immune barrier in colorectal cancer by impairing T cell recruitment and instructing immunosuppressive SPP1+ macrophages	111
Chromatin remembers ancestral DNA damage	109
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype	109
Regulators of androgen receptor activity revealed by CRISPR interference screens	109
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes	108
Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries	108
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits	108
Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition	107
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank	107
A multi-tissue single-cell expression atlas in cattle	106
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations	106
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas	105
A pangenome of maize provides genetic insights into drought resistance	104
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution	103
New genes helped acorn barnacles adapt to a sessile lifestyle	103
Acetylation of histone H2B marks active enhancers and predicts CBP/p300 target genes	101
A complete telomere-to-telomere assembly of the maize genome	101
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity	100
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription	100
Consensus prediction of cell type labels in single-cell data with popV	99
High-throughput screening identifies modulators of gene bursting	98
Profiling oncogenic extra-chromosomal DNA in cancer	98
Transposable element evolution in mammals	98
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex	97
Sequencing genetic and epigenetic bases	97
Deciphering the regulatory logic of a chromatin domain boundary	97
Base editing as a therapeutic strategy for somatic repeat expansion diseases	96
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism	96
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease	96
Potential approaches to create ultimate genotypes in crops and livestock	95
Multi-ancestry genome-wide association analyses of polycystic ovary syndrome	95
Small nuclear RNA genes in Mendelian disorders	95
Single-cell and spatial transcriptomics reveal mechanisms of radioresistance and immune escape in recurrent nasopharyngeal carcinoma	95
Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction	94
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A–menin to bivalent promoters	93
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells	93

Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors	93
Human Genome Diversity Project data use and implications for the governance of legacy genomic data	92
Extraordinary collateral mutagenesis induced by CX-5461	92
The elite haplotype OsGATA8-H coordinates nitrogen uptake and productive tiller formation in rice	92
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	92
Genomics of the oldest domesticated wheat	92
LINE1 are spliced in non-canonical transcript variants to regulate T cell quiescence and exhaustion	92
Spatial signatures for predicting immunotherapy outcomes using multi-omics in non-small cell lung cancer	91
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts	90
Genetics of sexually dimorphic adipose distribution in humans	90
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection	90
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention	87
Age-associated transcriptional stress due to accelerated elongation and increased stalling of RNAPII	87
Bipotent transitional liver progenitor cells contribute to liver regeneration	87
Human genetic diversity alters off-target outcomes of therapeutic gene editing	86
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	85
Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view	85
The ZmWAKL–ZmWIK–ZmBLK1–ZmRBOH4 module provides quantitative resistance to gray leaf spot in maize	85
Mapping interindividual dynamics of innate immune response at single-cell resolution	84
A compendium of genetic regulatory effects across pig tissues	84
A spatially resolved atlas of the human lung characterizes a gland-associated immune niche	83
X chromosome dosage shapes renal cell carcinoma risk	82
Potato genome diversity	82
A ΔNp63–MED12 axis drives basal-like identity in pancreatic cancer	81
A one-stop shop for 3D spatial transcriptomics	81
Publisher Correction: Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors	79
Applying compressed Perturb-seq to genetic screens	79
Intermediate cells with activated JAK/STAT signaling in prostate regeneration and diseases	79
LINE1 mediates long-range DNA interactions	78
Genetic insights into depression	78
Pathogen perception and deception in plant immunity by kinase fusion proteins	77
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation	77
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution	77
Deep learning model improves COPD risk prediction and gene discovery	76
Functional analysis of cancer-associated germline risk variants	76
KDM4C shields breast cancer from the histone scissor cathepsin L	76
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos	75
Cell-state-specific enhancer design in hematopoiesis	75
Tumor heterogeneity impairs immunogenicity in mismatch repair deficient tumors	75
Our ancestry dictates clonal architecture and skin cancer susceptibility	75
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes	74
Genetic contribution to heterogeneity in type 2 diabetes	74
Scalable and accurate rare variant meta-analysis with Meta-SAIGE	73
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears	72
Most large structural variants in cancer genomes can be detected without long reads	72
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense	71
Chloroplast and whole-genome sequencing shed light on the evolutionary history and phenotypic diversification of peanuts	71
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis	71
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	71
Genome assembly of two allotetraploid cotton germplasms reveals mechanisms of somatic embryogenesis and enables precise genome editing	71
Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities	70
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling	70
Exploring the genetic overlap between twelve psychiatric disorders	69
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance	69
Dissecting endometriosis by single-cell transcriptomic and genomic analysis	69
Understanding the genetic complexity of puberty timing across the allele frequency spectrum	68
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank	68
Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea	68
The disordered N-terminal domain of DNMT3A recognizes H2AK119ub and is required for postnatal development	67
Diverse mutations in autism-related genes and their expression in the developing brain	67
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification	67
A molecular map of T cell activation gives insights into immune disease	67
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	67
Mapping extrachromosomal DNA amplifications during cancer progression	67
Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking	67
Author Correction: LINE-1 transcription activates long-range gene expression	66
Engineering extrachromosomal DNA	66
Activating the dark genome to illuminate cancer vaccine targets	66
DNA methylation provides molecular links underlying complex traits	66
Genome synteny reveals hidden enhancer conservation	66
How cauliflower got its curd	65
Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells	65
RNA Pol II enters the ring of cohesin-mediated loop extrusion	65
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk	65
CHOIR improves significance-based detection of cell types and states from single-cell data	65
Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy	64
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders	64
CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses	64
Borzoi decodes the complex DNA signals governing gene regulation	64
Charles David Allis (1951–2023)	64
Somatic mutations at scale	63
Using large-scale population-based data to improve disease risk assessment of clinical variants	63
Repairing a deleterious domestication variant in a floral regulator gene of tomato by base editing	63
Towards trustworthiness of precision medicine research for people with disabilities	63
SARS-CoV-2 diagnostic testing rates determine the sensitivity of genomic surveillance programs	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	63
Measurement and clinical interpretation of CRISPR off-targets	63
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health	62
Structural polymorphism and diversity of human segmental duplications	62
Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles	62
The future of polygenic risk scores in direct-to-consumer genomics	62
Single-cell mtDNA dynamics in tumors is driven by coregulation of nuclear and mitochondrial genomes	62
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains	62
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study	62
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes	62