Citation Impact
Citing Papers
The Microbial Metabolites, Short-Chain Fatty Acids, Regulate Colonic T reg Cell Homeostasis
2013 StandoutScience
STAR: ultrafast universal RNA-seq aligner
2012 Standout
Complement Factor H Polymorphism and Age-Related Macular Degeneration
2005 StandoutScience
Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
2005 StandoutScience
Complement Factor H Polymorphism in Age-Related Macular Degeneration
2005 StandoutScience
Evolution of Mammals and Their Gut Microbes
2008 StandoutScience
PARP inhibitors: Synthetic lethality in the clinic
2017 StandoutScience
Updated benchmarking of variant effect predictors using deep mutational scanning
2023
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
2014 Standout
Variation in alternative splicing across human tissues
2004
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
2020
An integrated encyclopedia of DNA elements in the human genome
2012 StandoutNature
A genome-wide analysis of nonribosomal peptide synthetase gene clusters and their peptides in a Planktothrix rubescens strain
2009
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
2017
Biological functions of fucose in mammals
2017
The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population
2007
Genetic effects on gene expression across human tissues
2017 StandoutNature
Reaching for high-hanging fruit in drug discovery at protein–protein interfaces
2007 StandoutNature
Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease
2004
Alternative isoform regulation in human tissue transcriptomes
2008 StandoutNature
C-H…pi interactions in proteins: prevalence, pattern of occurrence, residue propensities, location, and contribution to protein stability
2014
Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown
2018 StandoutNobel
Unravelling the pathogenesis of inflammatory bowel disease
2007 StandoutNature
RNA-based gene duplication: mechanistic and evolutionary insights
2008
Predicting cell-type–specific gene expression from regions of open chromatin
2012
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family
2003
Long noncoding RNAs: Re-writing dogmas of RNA processing and stability
2015
Genomic Regionality in Rates of Evolution Is Not Explained by Clustering of Genes of Comparable Expression Profile
2004
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
2015 StandoutNobel
Nucleosome positioning as a determinant of exon recognition
2009
A mitochondrial genome sequence of a hominin from Sima de los Huesos
2013 StandoutNatureNobel
The multilayered complexity of ceRNA crosstalk and competition
2014 StandoutNature
Molecular Insights into the Biosynthesis of Guadinomine: A Type III Secretion System Inhibitor
2012 StandoutNobel
Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture
2012
Single-Molecule Dynamics of Enhanceosome Assembly in Embryonic Stem Cells
2014 StandoutNobel
Mapping and analysis of chromatin state dynamics in nine human cell types
2011 StandoutNature
Evolution of a designed protein assembly encapsulating its own RNA genome
2017 StandoutNatureNobel
Age-Related Maculopathy: A Genomewide Scan with Continued Evidence of Susceptibility Loci within the 1q31, 10q26, and 17q25 Regions
2004
Divergent Transcription: A Driving Force for New Gene Origination?
2013
Extracellular matrix structure
2015 Standout
High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation
2008
Structure of the mechanically activated ion channel Piezo1
2017 StandoutNatureNobel
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Prokaryotic Evolution in Light of Gene Transfer
2002
Expansion of the eukaryotic proteome by alternative splicing
2010 StandoutNature
Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue
2011
Analysis of variation at transcription factor binding sites in Drosophila and humans
2012
Genome maintenance mechanisms for preventing cancer
2001 StandoutNature
Understanding mechanisms underlying human gene expression variation with RNA sequencing
2010 Nature
An obesity-associated gut microbiome with increased capacity for energy harvest
2006 StandoutNature
DADA2: High-resolution sample inference from Illumina amplicon data
2016 Standout
Exome sequencing as a tool for Mendelian disease gene discovery
2011
limma powers differential expression analyses for RNA-sequencing and microarray studies
2015 Standout
Unique features of long non-coding RNA biogenesis and function
2015 Standout
Ecological and Evolutionary Forces Shaping Microbial Diversity in the Human Intestine
2006 Standout
Synthetic lethality: the road to novel therapies for breast cancer
2016
Mutation rate variation in the mammalian genome
2003
Surrogate Wnt agonists that phenocopy canonical Wnt and β-catenin signalling
2017 StandoutNatureNobel
Intronic Sequences Flanking Alternatively Spliced Exons Are Conserved Between Human and Mouse
2003
Intronic Binding Sites for hnRNP A/B and hnRNP F/H Proteins Stimulate Pre-mRNA Splicing
2006
Predicting functional effect of missense variants using graph attention neural networks
2022
A microbial symbiosis factor prevents intestinal inflammatory disease
2008 StandoutNature
RADAR: a rigorously annotated database of A-to-I RNA editing
2013
Inhibition of Human Papillomavirus DNA Replication by Small Molecule Antagonists of the E1-E2 Protein Interaction
2003
MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery
2010
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
2013
Alternative transcription and alternative splicing in cancer
2012
Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration
2004
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
The evolution of gene expression levels in mammalian organs
2011 StandoutNatureNobel
Microsatellites: simple sequences with complex evolution
2004 Standout
Fine-scale diversity and extensive recombination in a quasisexual bacterial population occupying a broad niche
2015 Science
2014
Sexual isolation and speciation in bacteria.
2002
Report of the ad hoc committee for the re-evaluation of the species definition in bacteriology.
2002 Standout
DNA MISMATCH REPAIR AND GENETIC INSTABILITY
2000
Naive Bayesian Classifier for Rapid Assignment of rRNA Sequences into the New Bacterial Taxonomy
2007 Standout
Lysosomal activity regulatesCaenorhabditis elegansmitochondrial dynamics through vitamin B12 metabolism
2020 StandoutNobel
Metabolic network rewiring of propionate flux compensates vitamin B12 deficiency in C. elegans
2016
Drift and conservation of differential exon usage across tissues in primate species
2013
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives
2013
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
Lipoic acid biosynthesis defects
2014
Copper induces cell death by targeting lipoylated TCA cycle proteins
2022 StandoutScience
Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies
2014
Mechanically activated ion channel PIEZO1 is required for lymphatic valve formation
2018 StandoutNobel
Mismatch Repair Proteins Regulate Heteroduplex Formation during Mitotic Recombination in Yeast
1998
The Microbial Engines That Drive Earth's Biogeochemical Cycles
2008 StandoutScience
High rate of CAD gene amplification in human cells deficient in MLH1 or MSH6
2001 StandoutNobel
Sexual Isolation and Speciation in Bacteria
2002
AlleleSeq: analysis of allele‐specific expression and binding in a network framework
2011
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
2013 Standout
Sulfur(VI) Fluoride Exchange (SuFEx)-Enabled High-Throughput Medicinal Chemistry
2020 StandoutNobel
Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy
2015 StandoutNobel
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Works of Jacek Majewski being referenced
Mutations in WNT1 are a cause of osteogenesis imperfecta
2013
Gene Expression and Isoform Variation Analysis using Affymetrix Exon Arrays
2008
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
2015
2016
Heritability of alternative splicing in the human genome
2007
Characterization of intron loss events in mammals
2006
Distribution and Characterization of Regulatory Elements in the Human Genome
2002
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants
2018
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression
2010
Age-Related Macular Degeneration—a Genome Scan in Extended Families
2003
Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms
2003
Exon-Level Transcriptome Profiling in Murine Breast Cancer Reveals Splicing Changes Specific to Tumors with Different Metastatic Abilities
2010
GT Repeats Are Associated with Recombination on Human Chromosome 22
2000
Adapt Globally, Act Locally: The Effect of Selective Sweeps on Bacterial Sequence Diversity
1999
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
2014
Dependence of Mutational Asymmetry on Gene-Expression Levels in the Human Genome
2003
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing
2011
RNA editing of protein sequences: A rare event in human transcriptomes
2012
Polyadenylation-Dependent Control of Long Noncoding RNA Expression by the Poly(A)-Binding Protein Nuclear 1
2012
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
2013
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
2011
The Effect of Mismatch Repair and Heteroduplex Formation on Sexual Isolation in Bacillus
1998
Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome
2010
The study of eQTL variations by RNA-seq: from SNPs to phenotypes
2010
Evidence for codon bias selection at the pre-mRNA level in eukaryotes
2004
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
2010
Sexual isolation in bacteria
2001
Effect of polymorphisms within probe–target sequences on olignonucleotide microarray experiments
2008
Genome-wide analysis of transcript isoform variation in humans
2008
Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene
2005
Barriers to Genetic Exchange between Bacterial Species: Streptococcus pneumoniae Transformation
2000
DNA Sequence Similarity Requirements for Interspecific Recombination in Bacillus
1999
Characterization of the Minimal DNA Binding Domain of the Human Papillomavirus E1 Helicase: Fluorescence Anisotropy Studies and Characterization of a Dimerization-Defective Mutant Protein
2003