OOIR: Observatory of International Research

Papers

(The H4-Index of Nature Genetics is 113. 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 2021-04-01 to 2025-04-01.)

Article	Citations
A versatile functional assay for genetic variants in human disease	1391
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	1319
Improved pathogenicity prediction using primate genomics	1070
Calling SNVs in single cells	1003
Neuronal chromatin meta-domains	920
Single-nucleotide-level mapping of DNA regulatory elements that control fetal hemoglobin expression	877
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause	800
sortChIC enables detailed chromatin analysis of rare cell types	682
A scalable technology for measuring cell-type-specific activity of cis-regulatory sequences	505
Quantifying fitness effects and mutation rates of mCAs in blood	449
Linking non-coding variants to function in microglia in Alzheimer’s disease	432
Inferring phylogenies from pandemic-scale genome datasets	425
Prevalent putative chromatin bivalency and partial resetting of H3K27me3 in plant sperm	401
Mitochondrial DNA mosaicism in normal human somatic cells	391
RNU4-2 variants cause neurodevelopmental disorders	390
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	373
Inseparable RNA binding and chromatin modification activities of a nucleosome-interacting surface in EZH2	372
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits	371
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	368
Functional characterization of Alzheimer’s disease genetic variants in microglia	353
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	348
Active repression of cell fate plasticity by PROX1 safeguards hepatocyte identity and prevents liver tumorigenesis	333
Genomic analysis of 1,325 Camellia accessions sheds light on agronomic and metabolic traits for tea plant improvement	325
Identifying critical cell types and gene regulatory pathways for hair and skin disease	308
Rare-variant genetic architecture	289

Role of gene–gene loops in fine-tuning cross-regulation	279
Implementing polygenic risk scores in the clinic	278
Temperature-induced RNA recoding in octopus	275
Mapping dog behavior	272
G6PD deficiency and diabetes complications	245
Chromosome organization from the Ice Age	241
GeneMAP enables discovery of metabolic gene function	240
The evolving cancer genome	237
Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns	232
Increased enhancer–promoter interactions during developmental enhancer activation in mammals	222
Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans	221
GATTACA is still pertinent 25 years later	218
Integrating genetics with single-cell multiomic measurements across disease states identifies mechanisms of beta cell dysfunction in type 2 diabetes	217
Complex synthetic lethality in cancer	216
Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases	214
Transposition enables low-input single-molecule concurrent genomics and epigenomics	213
A mass balance principle for finding loose ends in cancer genomes	204
Chromatin modifications integrate cis genomic context to instruct transcriptional outputs	204
Rewriting the mammalian genome, one locus at a time	203
Integration of genetic data with dynamic gene regulatory elements identifies autoimmune effector cell states	202
Epigenetic memory in 3D	201
African-ancestry-associated genomic differences in cancer	201
Personalizing pangenome graphs with k-mers	193
Identifying genetic subtypes of disease from hospital diagnosis records	191
A call for spatial omics submissions	188
TP53-dependent genomic instability	185
The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	173
Cellular plasticity of the bone marrow niche promotes hematopoietic stem cell regeneration	173
Reactivation of embryonic genetic programs in tissue regeneration and disease	167
Publisher Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors	166
Tomato super-pangenome highlights the potential use of wild relatives in tomato breeding	164
Blood DNA virome associates with autoimmune diseases and COVID-19	163
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	162
Comprehensive genomic characterization of early-stage bladder cancer	161
Brain metastasis prediction	158
DNA loop extrusion is asymmetric but can switch direction	157
How transposable elements are spliced out	156
Disentangling extrachromosomal circular DNA heterogeneity in single cells with scEC&T-seq	155
Publisher Correction: Functional innovation through new genes as a general evolutionary process	149
Single-cell mapping of HTT somatic repeat expansions	147
Polyguanine microsatellites are robust replication clocks in cancer	146
Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1	146
Hyperactive histone genes fuel cancer	145
Genomics of rare diseases in the Greater Middle East	144
DRAGEN optimizes genomic variant detection	143
Rare coding variants in CHRNB2 reduce the likelihood of smoking	141
A modified fluctuation-test framework characterizes the population dynamics and mutation rate of colorectal cancer persister cells	141
Library size normalization affects spatial domain identification	141
Metagenomics of the human gut mycobiome	141
BRD2 compartmentalizes the accessible genome	140

Author Correction: From Mendel to quantitative genetics in the genome era: the scientific legacy of W. G. Hill	139
Automated sequence-based annotation and interpretation of the human genome	138
Genetic determinants of chromatin reveal prostate cancer risk mediated by context-dependent gene regulation	138
Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease	133
NECTIN1 is a melanoma metastasis suppressor gene	132
Skip to the end: metastasis before tumorigenesis	129
Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight	128
Author Correction: Bipotent transitional liver progenitor cells contribute to liver regeneration	128
Identifying type 2 diabetes risk genes by β-cell CRISPR screening	128
Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries	128
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	127
Problems with dystopian representations in genetic futurism	126
Studying the genetics of participation using footprints left on the ascertained genotypes	126
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	126
Machine learning drives genetic discovery for binge eating disorder	124
A combinatorial genetic strategy for exploring complex genotype–phenotype associations in cancer	124
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms	122
Proteogenomic insights into early-onset endometrioid endometrial carcinoma: predictors for fertility-sparing therapy response	122
Single-mitosis dissection of acute and chronic DNA mutagenesis and repair	121
Understanding liver repair through space and time	121
Pan-transcriptome reveals a large accessory genome contribution to gene expression variation in yeast	121
Mobile element insertions affect human pigmentation and skin cancer risk	120
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles	120
Integrated analyses highlight interactions between the three-dimensional genome and DNA, RNA and epigenomic alterations in metastatic prostate cancer	120
Single-cell technologies meet Hi-C	118
Promoting equity in polygenic risk assessment through global collaboration	117
Widespread position-dependent transcriptional regulatory sequences in plants	117
Rare coding variant analysis for human diseases across biobanks and ancestries	117
Epigenetic therapy potentiates transposable element transcription to create tumor-enriched antigens in glioblastoma cells	117
Harnessing cancer genomes for precision oncology	116
Context-specific targeting of the androgen receptor in prostate cancer	116
Toward advances in retinoblastoma genetics in Kenya	116
Toward GDPR compliance with the Helmholtz Munich genotype imputation server	115
Obesity-dependent selection of driver mutations in cancer	115
Split-pool barcoding serves up an epigenomic smorgasbord	115
Base editing screens define the genetic landscape of cancer drug resistance mechanisms	115
Characterizing the evolutionary dynamics of cancer proliferation in single-cell clones with SPRINTER	114
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy	114
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma	113