Nature Genetics

Papers
(The H4-Index of Nature Genetics is 114. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-05-01 to 2026-05-01.)
ArticleCitations
Toward advances in retinoblastoma genetics in Kenya868
Epigenetic memory in 3D648
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer643
Mapping dog behavior638
Role of gene–gene loops in fine-tuning cross-regulation580
Machine learning drives genetic discovery for binge eating disorder534
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores446
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides403
GeneMAP enables discovery of metabolic gene function396
Cracking the histone code for prostate cancer therapy386
Problems with dystopian representations in genetic futurism368
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption365
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes348
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes340
Genome-wide RNA polymerase stalling shapes the transcriptome during aging333
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease325
An atlas of genetic determinants of forearm fracture314
Mitochondrial DNA mosaicism in normal human somatic cells310
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation279
Predicting obesity from childhood275
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea271
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease267
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization264
Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study262
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases249
Genome-wide fine-mapping improves identification of causal variants246
Somatic mutations link focal onset to widespread neurodegeneration in ALS and FTD245
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways244
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize240
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development230
Rare coding variant analysis for human diseases across biobanks and ancestries221
Understanding liver repair through space and time219
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells219
Reactivation of embryonic genetic programs in tissue regeneration and disease219
Complete genomes of six ape species214
Insights from three decades of BRCA1/2 modeling in mice214
Temperature-induced RNA recoding in octopus210
Criteria for prioritizing trait-relevant genes208
Defining the transcriptional landscape in the classical subtype of pancreatic cancer207
Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas206
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness206
Author Correction: Single-cell atlas of the transcriptome and chromatin accessibility in the human retina203
Chromatin loop proteomics finds a non-catalytic function for a histone demethylase201
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation197
Shared genetics of substance use disorders195
A biology-aware mutation rate model for human germline186
Genes influence complex traits through environments that vary between geographic regions185
Genetic and non-genetic HLA disruption is widespread in lung and breast tumors182
Finding cancer mutagens using signature analysis181
Histone gene editing probes functions of H3K27 modifications in mammals178
A scalable gut epithelial organoid model reveals the genome-wide colonization landscape of a human-adapted pathogen176
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma176
Identification of two intrinsic epithelial subtypes of colorectal cancer175
Finding causal genes underlying risk for coronary artery disease175
Somatic mutations in the stomach175
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction174
Suppressing a phosphohydrolase of cytokinin nucleotide enhances grain yield in rice172
Safeguard repressor locks hepatocyte identity and blocks liver cancer168
An alternative model for maternal mtDNA inheritance166
Publisher Correction: APOBEC3 mutagenesis drives therapy resistance in breast cancer165
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon163
Recycling enhancers162
Author Correction: Pangenome graphs and their applications in biodiversity genomics161
When RNA methylation meets DNA methylation161
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment160
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice160
APOBEC mutagenesis is a common process in normal human small intestine159
High-content genetic screens identify RNA-based mechanisms to target immune evasion158
Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor158
Histone acetylation-dependent clustering of BRD2 instructs transcription dynamics157
Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks157
Publisher Correction: A genetic module boosts grain yield and nitrogen use efficiency by improving nitrate transport in maize156
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data155
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer154
Genetic associations with educational fields154
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases154
Interpreting cis-regulatory interactions from large-scale deep neural networks153
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion150
RNA polymerase II dynamics shape enhancer–promoter interactions149
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas148
Exploring the mammalian metabolome with DeepMet147
Author Correction: The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice144
Stromal immune cell signatures predict risk of progression in meningioma144
Increasing diversity in genomics requires investment in equitable partnerships and capacity building142
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk141
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription140
Solanum americanum genome-assisted discovery of immune receptors that detect potato late blight pathogen effectors140
Bayesian estimation of gene constraint from an evolutionary model with gene features139
Epigenetically driven and early immune evasion in colorectal cancer evolution138
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns134
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity134
Proteome-wide model for human disease genetics132
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits132
Establishing African genomics and bioinformatics programs through annual regional workshops131
Equity, ethics and the promise of partnership in genomic medicine131
Redefining teleost phylogeny129
Somatic recombination of repetitive elements128
Sarcoma predisposition127
SBRR1-R variant regulates sheath blight resistance in rice127
Genetic and biological insights into spontaneous coronary artery dissection126
Sox2 expression can be regulated across boundaries generated by CTCF–cohesin loops124
Improving estimates of loss-of-function constraint for short genes122
Planting the milestones of human genetics in Senegal122
Nucleotide dependency analysis of genomic language models detects functional elements120
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification120
Epigenetic scars of Brca1 loss point toward breast cancer cell of origin119
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations119
Polygenic basis for seedless grapes118
Defining genome access of transcription factors117
Regulators of androgen receptor activity revealed by CRISPR interference screens116
Chromatin remembers ancestral DNA damage116
A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects116
Defining and pursuing diversity in human genetic studies115
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes115
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