Citation Impact
Citing Papers
Fast and efficient QTL mapper for thousands of molecular phenotypes
2015
Limits of long-term selection against Neandertal introgression
2019 StandoutNobel
RNA splicing is a primary link between genetic variation and disease
2016 Science
Autoimmune Th17 Cells Induced Synovial Stromal and Innate Lymphoid Cell Secretion of the Cytokine GM-CSF to Initiate and Augment Autoimmune Arthritis
2018 StandoutNobel
cis-Acting Complex-Trait-Associated lincRNA Expression Correlates with Modulation of Chromosomal Architecture
2017
Schizophrenia risk from complex variation of complement component 4
2016 StandoutNature
Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe
2018 StandoutNobel
Cancer statistics, 2018
2018 Standout
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
HLA Match Likelihoods for Hematopoietic Stem-Cell Grafts in the U.S. Registry
2014 Standout
Pathophysiology of uric acid nephrolithiasis
2002
Elements of cancer immunity and the cancer–immune set point
2017 StandoutNature
Kidney stones: pathophysiology and medical management
2006 Standout
Guidelines on Urolithiasis<footref rid="foot01"><sup>1</sup></footref>
2001 Standout
Genetic effects on gene expression across human tissues
2017 StandoutNature
The evolving landscape of biomarkers for checkpoint inhibitor immunotherapy
2019 Standout
Foundation models for generalist medical artificial intelligence
2023 StandoutNature
Stem Cell Therapies in Clinical Trials: Progress and Challenges
2015 Standout
HLA Has Strongest Association with IgA Nephropathy in Genome-Wide Analysis
2010 StandoutNobel
Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis
2006
Hallmarks of aging: An expanding universe
2023 Standout
Effective gene expression prediction from sequence by integrating long-range interactions
2021 StandoutNobel
The changing landscape of atherosclerosis
2021 StandoutNature
Genetic Variation and Response to Neurocritical Illness: a Powerful Approach to Identify Novel Pathophysiological Mechanisms and Therapeutic Targets
2020
Psoriasis
2021 Standout
Five Years of GWAS Discovery
2012 Standout
Human Pluripotent Stem Cell Culture: Considerations for Maintenance, Expansion, and Therapeutics
2014
The role of regulatory variation in complex traits and disease
2015
The effect of the USPSTF PSA screening recommendation on prostate cancer incidence patterns in the USA
2016
An atlas of genetic correlations across human diseases and traits
2015 Standout
Chromatin marks identify critical cell types for fine mapping complex trait variants
2012
Functionally informed fine-mapping and polygenic localization of complex trait heritability
2020
2007 Guideline for the Management of Ureteral Calculi
2007 Standout
Obesity, Weight Gain, and the Risk of Kidney Stones
2005 Standout
Sex and gender: modifiers of health, disease, and medicine
2020 Standout
High-performance medicine: the convergence of human and artificial intelligence
2018 Standout
Non-alcoholic fatty liver disease
2021 Standout
Multimodal biomedical AI
2022 Standout
Privacy in the age of medical big data
2018 Standout
Drug repurposing: progress, challenges and recommendations
2018 Standout
Genetic regulation of gene expression in the epileptic human hippocampus
2017
The pangenome of an agronomically important crop plant Brassica oleracea
2016 Standout
Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23
2016
Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens
2013
Genetic variability in the regulation of gene expression in ten regions of the human brain
2014
The major genetic risk factor for severe COVID-19 is inherited from Neanderthals
2020 StandoutNatureNobel
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
2014
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
2018 Standout
Archaic Hominin Admixture Facilitated Adaptation to Out-of-Africa Environments
2016
Toward Genetic Prediction of Nonalcoholic Fatty Liver Disease Trajectories: PNPLA3 and Beyond
2020
High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case–parent trio study
2014
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
2016 Standout
Six-locus high resolution HLA haplotype frequencies derived from mixed-resolution DNA typing for the entire US donor registry
2013
Modelling local gene networks increases power to detect trans-acting genetic effects on gene expression
2016
Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell Type Specificity of eQTLs
2013
Regulatory T Cell-Specific Epigenomic Region Variants Are a Key Determinant of Susceptibility to Common Autoimmune Diseases
2020 StandoutNobel
New Cell Sources for T Cell Engineering and Adoptive Immunotherapy
2015
Evidence for a Common Origin of Blacksmiths and Cultivators in the Ethiopian Ari within the Last 4500 Years: Lessons for Clustering-Based Inference
2015
Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association
2017 Standout
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
2013
Validating therapeutic targets through human genetics
2013
Gene regulation by long non-coding RNAs and its biological functions
2020 Standout
Hepatocellular carcinoma
2022 Standout
Modeling Development and Disease with Organoids
2016 Standout
Prevalence of Kidney Stones in the United States
2012 Standout
Genetic insights into common pathways and complex relationships among immune-mediated diseases
2013
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
2018
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression
2014 Science
The antagonistic pleiotropy of insulin‐like growth factor 1
2021
Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa
2015 StandoutScience
Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease
2019
Psoriasis and Genetics
2020
Regulatory T Cells and Human Disease
2020 StandoutNobel
Etiological Role of Estrogen Status in Renal Stone Formation
2002
Fine-Scale Genetic Structure in Finland
2017
Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease
2020
Changing Gender Prevalence of Stone Disease
2007
Genotype Imputation
2009
Chimeric Antigen Receptor Therapy
2018 Standout
Systolic Blood Pressure and Risk of Valvular Heart Disease
2019
2020 ACC/AHA Guideline for the Management of Patients With Valvular Heart Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines
2020 Standout
Genetic legacy of state centralization in the Kuba Kingdom of the Democratic Republic of the Congo
2018 StandoutNobel
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
2011 Standout
METABOLIC RISK FACTORS AND THE IMPACT OF MEDICAL THERAPY ON THE MANAGEMENT OF NEPHROLITHIASIS IN OBESE PATIENTS
2004
Combined Effect of PNPLA3, TM6SF2, and HSD17B13 Variants on Risk of Cirrhosis and Hepatocellular Carcinoma in the General Population
2020
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Interferon regulatory factor 2 protects mice from lethal viral neuroinvasion
2016 StandoutNobel
Admixture into and within sub-Saharan Africa
2016
Works of Stephen Leslie being referenced
The UK Biobank resource with deep phenotyping and genomic data
2018 StandoutNature
Toward the Development of a Global Induced Pluripotent Stem Cell Library
2013 Nobel
The fine-scale genetic structure of the British population
2015 Nature
Impact of body weight on urinary electrolytes in urinary stone formers
2000
A Statistical Method for Predicting Classical HLA Alleles from SNP Data
2008
Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank
2017
Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles
2012
Rethinking the Role of Urinary Magnesium in Calcium Urolithiasis
2001
What the U.S. Preventive Services Task Force Missed in Its Prostate Cancer Screening Recommendation
2012
The Impact of Cystinuria on Renal Function
2002
HLA*IMP—an integrated framework for imputing classical HLA alleles from SNP genotypes
2011
Multiple Hodgkin lymphoma–associated loci within the HLA region at chromosome 6p21.3
2011