OOIR: Observatory of International Research

Papers

(The H4-Index of Nature Genetics is 106. 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 2021-02-01 to 2025-02-01.)

Article	Citations
A versatile functional assay for genetic variants in human disease	1180
Skip to the end: metastasis before tumorigenesis	1084
Extreme conservation encodes the structural dynamics and function of 5′ UTRs	906
Adaptation to nitrogen	861
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	831
Improved pathogenicity prediction using primate genomics	796
An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank	750
Single-nucleotide-level mapping of DNA regulatory elements that control fetal hemoglobin expression	646
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	611
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	447
Separating measurement and expression models clarifies confusion in single-cell RNA sequencing analysis	404
Harnessing clonal gametes in hybrid crops to engineer polyploid genomes	399
The homeobox transcription factor DUXBL controls exit from totipotency	394
Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns	375
Calling SNVs in single cells	371
Neuronal chromatin meta-domains	344
High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR–Cas9 editing	340
sortChIC enables detailed chromatin analysis of rare cell types	326
A scalable technology for measuring cell-type-specific activity of cis-regulatory sequences	322
Ultraconservation of enhancers is not ultranecessary	315
Quantifying fitness effects and mutation rates of mCAs in blood	313
Linking non-coding variants to function in microglia in Alzheimer’s disease	308
Inferring phylogenies from pandemic-scale genome datasets	305
Prevalent putative chromatin bivalency and partial resetting of H3K27me3 in plant sperm	285
Rare-variant genetic architecture	284

Identifying critical cell types and gene regulatory pathways for hair and skin disease	284
Proteogenomic insights into early-onset endometrioid endometrial carcinoma: predictors for fertility-sparing therapy response	269
Role of gene–gene loops in fine-tuning cross-regulation	262
Implementing polygenic risk scores in the clinic	249
Metastable epialleles are stable in their instability	239
Translating amyotrophic lateral sclerosis genes into drug development leads	237
Connecting clinical and genetic heterogeneity in ADHD	234
Genetic architecture of cardiac dynamic flow volumes	230
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles	221
Temperature-induced RNA recoding in octopus	220
Mapping dog behavior	215
The evolving cancer genome	203
The genomic and spatial mobility of extrachromosomal DNA and its implications for cancer therapy	201
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms	194
Transposition enables low-input single-molecule concurrent genomics and epigenomics	189
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	188
Chromatin modifications integrate cis genomic context to instruct transcriptional outputs	188
Studying the genetics of participation using footprints left on the ascertained genotypes	187
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation	187
A mass balance principle for finding loose ends in cancer genomes	185
Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity	185
Rewriting the mammalian genome, one locus at a time	184
Epigenetic memory in 3D	184
Integration of genetic data with dynamic gene regulatory elements identifies autoimmune effector cell states	184
Automated sequence-based annotation and interpretation of the human genome	183
African-ancestry-associated genomic differences in cancer	182
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	175
Problems with dystopian representations in genetic futurism	175
A new method for multiancestry polygenic prediction improves performance across diverse populations	174
Stepwise de novo establishment of inactive X chromosome architecture in early development	170
Personalizing pangenome graphs with k-mers	165
Context-specific targeting of the androgen receptor in prostate cancer	157
Widespread position-dependent transcriptional regulatory sequences in plants	157
MHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution	154
Identifying type 2 diabetes risk genes by β-cell CRISPR screening	152
Identifying genetic subtypes of disease from hospital diagnosis records	151
An integrated single-cell reference atlas of the human endometrium	147
A call for spatial omics submissions	147
Rare coding variant analysis for human diseases across biobanks and ancestries	146
Epigenetic therapy potentiates transposable element transcription to create tumor-enriched antigens in glioblastoma cells	144
TP53-dependent genomic instability	141
Harnessing cancer genomes for precision oncology	141
Noncoding mutations cause super-enhancer retargeting resulting in protein synthesis dysregulation during B cell lymphoma progression	140
Tomato super-pangenome highlights the potential use of wild relatives in tomato breeding	139
Machine learning drives genetic discovery for binge eating disorder	136
Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases	135
How transposable elements are spliced out	134
Understanding liver repair through space and time	134
Finding hidden treasures in summary statistics from genome-wide association studies	134
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma	128

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause	127
Disentangling extrachromosomal circular DNA heterogeneity in single cells with scEC&T-seq	126
Comprehensive characterization of protein–protein interactions perturbed by disease mutations	125
In vivo screening characterizes chromatin factor functions during normal and malignant hematopoiesis	125
A plasma membrane transporter coordinates phosphate reallocation and grain filling in cereals	125
DRAGEN optimizes genomic variant detection	125
Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing	123
A high-quality genome assembly highlights rye genomic characteristics and agronomically important genes	123
Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification	122
A combinatorial genetic strategy for exploring complex genotype–phenotype associations in cancer	122
Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans	121
Metagenomics of the human gut mycobiome	120
Library size normalization affects spatial domain identification	119
NECTIN1 is a melanoma metastasis suppressor gene	117
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	116
An atlas of genetic determinants of forearm fracture	115
Functional characterization of Alzheimer’s disease genetic variants in microglia	114
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease	114
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank	114
G6PD deficiency and diabetes complications	113
Retrotransposon activation during Drosophila metamorphosis conditions adult antiviral responses	113
Inseparable RNA binding and chromatin modification activities of a nucleosome-interacting surface in EZH2	113
RNU4-2 variants cause neurodevelopmental disorders	111
Chromosome organization from the Ice Age	110
Single-cell technologies meet Hi-C	110
Mitochondrial DNA mosaicism in normal human somatic cells	109
Mobile element insertions affect human pigmentation and skin cancer risk	109
Integrated analyses highlight interactions between the three-dimensional genome and DNA, RNA and epigenomic alterations in metastatic prostate cancer	109
GeneMAP enables discovery of metabolic gene function	108
The NALCN channel regulates metastasis and nonmalignant cell dissemination	106
Biallelic mutations in cancer genomes reveal local mutational determinants	106