Citation Impact
Citing Papers
DNA capture by a CRISPR-Cas9–guided adenine base editor
2020 StandoutScienceNobel
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
The Ensembl Variant Effect Predictor
2016 Standout
An analysis of disease-gene relationship from Medline abstracts by DigSee
2017
Improved gRNA secondary structures allow editing of target sites resistant to CRISPR-Cas9 cleavage
2022 StandoutNobel
Genome-wide prediction of disease variant effects with a deep protein language model
2023
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
2016 Standout
Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice
2020 StandoutNobel
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
2016 StandoutNature
Discriminating Between Normal and Glaucomatous Eyes Using the Heidelberg Retina Tomograph, GDx Nerve Fiber Analyzer, and Optical Coherence Tomograph
2001
Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity
2020 StandoutNobel
Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants
2021
Genetic effects on gene expression across human tissues
2017 StandoutNature
Accurate classification of BRCA1 variants with saturation genome editing
2018 Nature
Precision oncology in the age of integrative genomics
2018
Optic Disc and Visual Field Changes in a Prospective Longitudinal Study of Patients With Glaucoma
2001
Predicting the clinical impact of human mutation with deep neural networks
2018
Methods and Applications of CRISPR-Mediated Base Editing in Eukaryotic Genomes
2017
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020
Predicting variant deleteriousness in non-human species: applying the CADD approach in mouse
2018
Effective gene expression prediction from sequence by integrating long-range interactions
2021 StandoutNobel
CRISPR-Cas9 Circular Permutants as Programmable Scaffolds for Genome Modification
2019 StandoutNobel
Hepatocellular carcinoma
2021 Standout
Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage
2017 StandoutNature
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
2019
The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible
2016 Standout
Current and future perspectives of liquid biopsies in genomics-driven oncology
2018 Standout
Recent advances in mRNA vaccine technology
2020 StandoutNobel
Human 5′ UTR design and variant effect prediction from a massively parallel translation assay
2019
mRNA vaccines for infectious diseases: principles, delivery and clinical translation
2021 StandoutNobel
Primary open-angle glaucoma
2004 Standout
The landscape of long noncoding RNAs in the human transcriptome
2015 Standout
Base editing: precision chemistry on the genome and transcriptome of living cells
2018
NCBI’s Database of Genotypes and Phenotypes: dbGaP
2013
Dissecting the genetics of the human transcriptome identifies novel trait-relatedtrans-eQTLs and corroborates the regulatory relevance of non-protein coding loci
2015
High-performance medicine: the convergence of human and artificial intelligence
2018 Standout
Immunopathology of multiple sclerosis
2015 Standout
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies
2015
Implementing Genome-Driven Oncology
2017
Settling the score: variant prioritization and Mendelian disease
2017
The impact of rare variation on gene expression across tissues
2017 Nature
Network-based in silico drug efficacy screening
2016
IMHOTEP—a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants
2016
Search-and-replace genome editing without double-strand breaks or donor DNA
2019 StandoutNature
Gradient-Boosting Classifiers Combining Vessel Density and Tissue Thickness Measurements for Classifying Early to Moderate Glaucoma
2020
Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors
2020 Standout
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
2013 Standout
Mutation effects predicted from sequence co-variation
2017
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data
2017
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
2018 Standout
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
2016 Standout
Applications of machine learning in drug discovery and development
2019 Standout
Efficient generation of mouse models of human diseases via ABE- and BE-mediated base editing
2018 Standout
GAVIN: Gene-Aware Variant INterpretation for medical sequencing
2017
CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes
2016 Standout
Cornerstones of CRISPR–Cas in drug discovery and therapy
2016 StandoutNobel
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
2016
Enhanced Detection of Open-angle Glaucoma with an Anatomically Accurate Optical Coherence Tomography–Derived Neuroretinal Rim Parameter
2012
Glaucoma Detection Using Scanning Laser Polarimetry With Variable Corneal Polarization Compensation
2003
Comparison of the GDx VCC Scanning Laser Polarimeter, HRT II ConfocalScanning Laser Ophthalmoscope, and Stratus OCT Optical Coherence Tomographfor the Detection of Glaucoma
2004
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase
2020
Optical coherence tomography to detect and manage retinal disease and glaucoma
2003
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
2017
Massively parallel kinetic profiling of natural and engineered CRISPR nucleases
2020 StandoutNobel
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
New approach for understanding genome variations in KEGG
2018
The EMBL-EBI search and sequence analysis tools APIs in 2019
2019 Standout
KEGG: integrating viruses and cellular organisms
2020 Standout
Ionizable lipid nanoparticles deliver mRNA to pancreatic β cells via macrophage-mediated gene transfer
2023 StandoutNobel
Targeted nucleotide editing using hybrid prokaryotic and vertebrate adaptive immune systems
2016 StandoutScience
Prioritizing genes for systematic variant effect mapping
2020
Evaluating the Optic Disc and Retinal Nerve Fiber Layer in Glaucoma II: Optical Image Analysis
2000
g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)
2019 Standout
De novo design of small beta barrel proteins
2023 StandoutNobel
Ensembl variation resources
2018
Imaging and Photodynamic Therapy: Mechanisms, Monitoring, and Optimization
2010 Standout
The Pathophysiology and Treatment of Glaucoma
2014 Standout
Uncovering disease-disease relationships through the incomplete interactome
2015 Science
The DisGeNET knowledge platform for disease genomics: 2019 update
2019 Standout
A Deep Neural Network for Predicting and Engineering Alternative Polyadenylation
2019
CRISPR-Cas guides the future of genetic engineering
2018 StandoutScienceNobel
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Evaluating the Retinal Nerve Fiber Layer in Glaucoma With Scanning Laser Polarimetry
1999
Works of Douglas Hoffman being referenced
Neural Networks to Identify Glaucoma With Structural and Functional Measurements
1996
ClinVar: public archive of interpretations of clinically relevant variants
2015 Standout
Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources
2013
Slope of the peripapillary nerve fiber layer surface in glaucoma.
1998
Comparison of optic nerve imaging methods to distinguish normal eyes from those with glaucoma.
2002
Relationship between structural abnormalities and short-wavelength perimetric defects in eyes at risk of glaucoma
2000