OOIR: Observatory of International Research

Papers

(The H4-Index of Nature Genetics is 112. 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 2020-05-01 to 2024-05-01.)

Article	Citations
New insights into the genetic etiology of Alzheimer’s disease and related dementias	759
Large-scale association analyses identify host factors influencing human gut microbiome composition	734
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology	663
ArchR is a scalable software package for integrative single-cell chromatin accessibility analysis	631
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression	620
A cross-population atlas of genetic associations for 220 human phenotypes	603
A single-cell and spatially resolved atlas of human breast cancers	569
Computationally efficient whole-genome regression for quantitative and binary traits	477
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease	457
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis	443
Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer	388
Genetics of 35 blood and urine biomarkers in the UK Biobank	383
Large-scale integration of the plasma proteome with genetics and disease	382
Cancer therapy shapes the fitness landscape of clonal hematopoiesis	369
The trans-ancestral genomic architecture of glycemic traits	350
Base-resolution models of transcription-factor binding reveal soft motif syntax	329
Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases	315
Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics	312
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases	307
Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing	304
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation	294
Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers	277
Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer’s disease	277
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction	269
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes	267

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation	263
Ultrafast Sample placement on Existing tRees (UShER) enables real-time phylogenetics for the SARS-CoV-2 pandemic	261
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses	260
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro	255
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	233
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology	230
Pan-cancer single-cell RNA-seq identifies recurring programs of cellular heterogeneity	225
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation	219
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases	219
Reevaluating the roles of histone-modifying enzymes and their associated chromatin modifications in transcriptional regulation	216
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank	215
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci	211
Improving polygenic prediction in ancestrally diverse populations	206
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease	204
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy	204
Interferons and viruses induce a novel truncated ACE2 isoform and not the full-length SARS-CoV-2 receptor	200
Multi-cancer analysis of clonality and the timing of systemic spread in paired primary tumors and metastases	199
The DNA methylation landscape of advanced prostate cancer	196
An integrated multi-omics approach identifies epigenetic alterations associated with Alzheimer’s disease	195
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture	192
Functionally informed fine-mapping and polygenic localization of complex trait heritability	192
A generalized linear mixed model association tool for biobank-scale data	191
A compendium of uniformly processed human gene expression and splicing quantitative trait loci	187
Efficient phasing and imputation of low-coverage sequencing data using large reference panels	184
Quantifying genetic effects on disease mediated by assayed gene expression levels	183
Triticum population sequencing provides insights into wheat adaptation	181
Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severity	180
Prostate cancer reactivates developmental epigenomic programs during metastatic progression	173
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism	172
Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort	170
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors	170
Phased diploid genome assemblies and pan-genomes provide insights into the genetic history of apple domestication	170
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity	168
Cas9 activates the p53 pathway and selects for p53-inactivating mutations	168
A high-quality genome assembly highlights rye genomic characteristics and agronomically important genes	167
Genome-wide CRISPR screening identifies TMEM106B as a proviral host factor for SARS-CoV-2	164
Haplotype-resolved genome assembly provides insights into evolutionary history of the tea plant Camellia sinensis	163
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	162
Polygenic basis and biomedical consequences of telomere length variation	160
Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis	160
N6-Methyladenosine co-transcriptionally directs the demethylation of histone H3K9me2	156
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect	154
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits	153
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale	152
Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation	149
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects	148
Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction	147
Global landscape of SARS-CoV-2 genomic surveillance and data sharing	143
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	142
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data	142

Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project	142
The association between tumor mutational burden and prognosis is dependent on treatment context	141
Single-cell transcriptomic analyses provide insights into the developmental origins of neuroblastoma	141
Haplotype-resolved genome analyses of a heterozygous diploid potato	140
A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis	139
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles	139
Chromosome-scale genome assembly provides insights into rye biology, evolution and agronomic potential	138
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	138
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes	136
Unraveling tumor–immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy	135
Exploring and visualizing large-scale genetic associations by using PheWeb	133
Guidelines for human gene nomenclature	131
Regulation of single-cell genome organization into TADs and chromatin nanodomains	131
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements	128
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power	128
Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program	127
An integrated framework for local genetic correlation analysis	127
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains	126
The amino acid transporter SLC7A5 is required for efficient growth of KRAS-mutant colorectal cancer	125
Landscape of G-quadruplex DNA structural regions in breast cancer	124
Genetic analyses identify widespread sex-differential participation bias	124
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	120
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts	119
Enhancer–promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1	117
A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection	117
Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer	116
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores	116
Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts	115
Multimodal pooled Perturb-CITE-seq screens in patient models define mechanisms of cancer immune evasion	115
A map of transcriptional heterogeneity and regulatory variation in human microglia	115
Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability	115
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis	114
The genomic landscape of pediatric acute lymphoblastic leukemia	114
Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment	114
Single-cell multimodal glioma analyses identify epigenetic regulators of cellular plasticity and environmental stress response	113
Comprehensive characterization of protein–protein interactions perturbed by disease mutations	113
A cross-platform approach identifies genetic regulators of human metabolism and health	113
High-definition likelihood inference of genetic correlations across human complex traits	112