Citation Impact
Citing Papers
A genomic region associated with protection against severe COVID-19 is inherited from Neandertals
2021 StandoutNobel
Limits of long-term selection against Neandertal introgression
2019 StandoutNobel
The Genetic Cost of Neanderthal Introgression
2016
Natural selection interacts with recombination to shape the evolution of hybrid genomes
2018 Science
Crippling life support for SARS-CoV-2 and other viruses through synthetic lethality
2020 StandoutNobel
The MR-Base platform supports systematic causal inference across the human phenome
2018 Standout
The UK Biobank resource with deep phenotyping and genomic data
2018 StandoutNature
Autoimmune Th17 Cells Induced Synovial Stromal and Innate Lymphoid Cell Secretion of the Cytokine GM-CSF to Initiate and Augment Autoimmune Arthritis
2018 StandoutNobel
The Ensembl Variant Effect Predictor
2016 Standout
Lipid and metabolic syndrome traits in coronary artery disease: a Mendelian randomization study
2020
Metascape provides a biologist-oriented resource for the analysis of systems-level datasets
2019 Standout
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
N6-Methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO
2011 StandoutNobel
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
2016 Standout
Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions
2016
Elements of cancer immunity and the cancer–immune set point
2017 StandoutNature
Identifying the genomic determinants of aging and longevity in human population studies: Progress and challenges
2013
ALKBH1-Mediated tRNA Demethylation Regulates Translation
2016
Rheumatoid arthritis
2018 Standout
Genetic effects on gene expression across human tissues
2017 StandoutNature
Prevalence of Obesity and Trends in the Distribution of Body Mass Index Among US Adults, 1999-2010
2012 Standout
Rheumatoid arthritis
2016 Standout
Leveraging Polygenic Functional Enrichment to Improve GWAS Power
2018 Standout
N6-methyladenosine Modulates Messenger RNA Translation Efficiency
2015 Standout
Post-transcriptional gene regulation by mRNA modifications
2016 Standout
A new class of cleavable fluorescent nucleotides: synthesis and optimization as reversible terminators for DNA sequencing by synthesis †
2008
Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies
2013
A Neanderthal Sodium Channel Increases Pain Sensitivity in Present-Day Humans
2020 StandoutNobel
Effective gene expression prediction from sequence by integrating long-range interactions
2021 StandoutNobel
Multiple episodes of interbreeding between Neanderthal and modern humans
2018
Overexpression of Fto leads to increased food intake and results in obesity
2010
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
2018
Improved Detection of Common Variants Associated with Schizophrenia by Leveraging Pleiotropy with Cardiovascular-Disease Risk Factors
2013
Rare-Variant Association Analysis: Study Designs and Statistical Tests
2014
The Human Transcription Factors
2018 Standout
The changing landscape of atherosclerosis
2021 StandoutNature
Psychiatric Genomics: An Update and an Agenda
2017
Global Genetic Networks and the Genotype-to-Phenotype Relationship
2019
The Strength of Selection against Neanderthal Introgression
2016
Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis
2015
An atlas of genetic correlations across human diseases and traits
2015 Standout
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
2019
A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout
Dynamic RNA Modifications in Gene Expression Regulation
2017 Standout
Highly parallel genomic assays
2006
Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond
2014
Variant Interpretation: Functional Assays to the Rescue
2017
Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans
2013
The Mammalian Epigenome
2007 Standout
Quantifying the regulatory effect size of cis -acting genetic variation using allelic fold change
2017
The Missing Diversity in Human Genetic Studies
2019 Standout
Type 2 diabetes
2017 Standout
Comprehensive Analysis of mRNA Methylation Reveals Enrichment in 3′ UTRs and near Stop Codons
2012 Standout
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
2018 Standout
Age-related macular degeneration
2018 Standout
Efficient Bayesian mixed-model analysis increases association power in large cohorts
2015
Next-generation DNA sequencing
2008 Standout
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
2018
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
A guide to deep learning in healthcare
2018 Standout
Systematic interrogation of human promoters
2019
5′ UTR m6A Promotes Cap-Independent Translation
2015 Standout
Towards a comprehensive catalogue of validated and target-linked human enhancers
2020
Sipuleucel-T Immunotherapy for Castration-Resistant Prostate Cancer
2010 Standout
Dissecting the genetics of complex traits using summary association statistics
2016
Activity-by-contact model of enhancer–promoter regulation from thousands of CRISPR perturbations
2019
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
2016 Standout
Predicting functional effect of missense variants using graph attention neural networks
2022
N6-methyladenosine-dependent regulation of messenger RNA stability
2013 StandoutNature
Geroscience: Linking Aging to Chronic Disease
2014 Standout
A systematic evaluation of the design and context dependencies of massively parallel reporter assays
2020
Improved Heritability Estimation from Genome-wide SNPs
2012
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis
2012
Replication of Associations of Genetic Loci Outside the HLA Region With Susceptibility to Anti–Cyclic Citrullinated Peptide–Negative Rheumatoid Arthritis
2016
Reversible RNA adenosine methylation in biological regulation
2012
Polymorphisms in FTO and near TMEM18 associate with type 2 diabetes and predispose to younger age at diagnosis of diabetes
2013
Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits
2018
The prognostic landscape of genes and infiltrating immune cells across human cancers
2015 Standout
Validating therapeutic targets through human genetics
2013
Pre-rheumatoid arthritis: predisposition and transition to clinical synovitis
2012
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
2017
Power and Predictive Accuracy of Polygenic Risk Scores
2013
Sequencing technologies — the next generation
2009 Standout
Genetic insights into common pathways and complex relationships among immune-mediated diseases
2013
Meta-analysis methods for genome-wide association studies and beyond
2013
The genetics of obesity: FTO leads the way
2010
Advances in Exercise, Fitness, and Performance Genomics
2010
Erythropoietin and IGF-1 signaling synchronize cell proliferation and maturation during erythropoiesis
2015
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Age-Related Macular Degeneration: Genetics and Biology Coming Together
2014
Quantity and Quality of Exercise for Developing and Maintaining Cardiorespiratory, Musculoskeletal, and Neuromotor Fitness in Apparently Healthy Adults
2011 Standout
Identification and transcriptome analysis of erythroblastic island macrophages
2019 StandoutNobel
Update on Obesity
2008
To What Extent Is the Familial Risk of Rheumatoid Arthritis Explained by Established Rheumatoid Arthritis Risk Factors?
2014
Measuring missing heritability: Inferring the contribution of common variants
2014
Is Obesity Our Genetic Legacy?
2008
Endometriosis
2020 Standout
The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
2015
Age‐related macular degeneration—clinical review and genetics update
2013
A systematic dissection of determinants and consequences of snoRNA-guided pseudouridylation of human mRNA
2022 StandoutNobel
Interpreting non-coding variation in complex disease genetics
2012
The DisGeNET knowledge platform for disease genomics: 2019 update
2019 Standout
A high-coverage Neandertal genome from Chagyrskaya Cave
2020 StandoutNobel
Identifying Causal Variants at Loci with Multiple Signals of Association
2014
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Works of Ron Do being referenced
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
2012
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
2012
Exome sequencing and complex disease: practical aspects of rare variant association studies
2012
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
2018 Standout
Exome sequencing and the genetic basis of complex traits
2012
Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease
2015
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
2015
Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck
2015
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits
2016
Deoxynucleotides Can Replace Dideoxynucleotides in Minisequencing By Arrayed Primer Extension
2006
Searching for missing heritability: Designing rare variant association studies
2014
Genetic Variants of FTO Influence Adiposity, Insulin Sensitivity, Leptin Levels, and Resting Metabolic Rate in the Quebec Family Study
2008