Standout Papers
Citation Impact
Citing Papers
Transcriptional Architecture and Chromatin Landscape of the Core Circadian Clock in Mammals
2012 Science
Nucleic acid detection with CRISPR-Cas13a/C2c2
2017 StandoutScience
Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1
2009 StandoutScience
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
A Genomewide Search for Ribozymes Reveals an HDV-Like Sequence in the Human CPEB3 Gene
2006 StandoutScienceNobel
Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders
2013
Schizophrenia risk from complex variation of complement component 4
2016 StandoutNature
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
2008 StandoutNature
Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe
2018 StandoutNobel
An integrated encyclopedia of DNA elements in the human genome
2012 StandoutNature
Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain
2017
High-resolution mapping of copy-number alterations with massively parallel sequencing
2008
Analysis of intronic and exonic reads in RNA-seq data characterizes transcriptional and post-transcriptional regulation
2015
Adaptor protein interactions: modulators of amyloid precursor protein metabolism and Alzheimer's disease risk?
2004
Mammalian Fe–S cluster biogenesis and its implication in disease
2014
Transcriptional architecture of the mammalian circadian clock
2016 Standout
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
2011
Circular RNAs are a large class of animal RNAs with regulatory potency
2013 StandoutNature
De novo assembly and genotyping of variants using colored de Bruijn graphs
2012
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
2007
Large multiallelic copy number variations in humans
2015
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
2010 Standout
Functional reconstitution of mitochondrial Fe/S cluster synthesis on Isu1 reveals the involvement of ferredoxin
2014
The genetics of ageing
2010 StandoutNature
Getting up to speed with transcription elongation by RNA polymerase II
2015
Genetic Advances in the Study of Speech and Language Disorders
2010
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
2010
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
Programmable RNA Tracking in Live Cells with CRISPR/Cas9
2016 StandoutNobel
Short read fragment assembly of bacterial genomes
2007
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
2008 Standout
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons
2006
Personalized copy number and segmental duplication maps using next-generation sequencing
2009
C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles
2016
Functional Copy-Number Alterations in Cancer
2008
Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs
2012
Sensitive and accurate detection of copy number variants using read depth of coverage
2009
Human nutrition, the gut microbiome and the immune system
2011 StandoutNature
NLRP3 is activated in Alzheimer’s disease and contributes to pathology in APP/PS1 mice
2012 StandoutNature
Decoding ALS: from genes to mechanism
2016 StandoutNature
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
2006
The origins and impact of primate segmental duplications
2009
Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins
2011
Human genetic variation and its contribution to complex traits
2009
Impact of whole genome amplification on analysis of copy number variants
2008
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
2006
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Segmental Duplications and Copy-Number Variation in the Human Genome
2005
Complex SNP-related sequence variation in segmental genome duplications
2004
Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome
2006
Tumour heterogeneity and cancer cell plasticity
2013 StandoutNature
ABySS: A parallel assembler for short read sequence data
2009 Standout
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Principles and Properties of Stress Granules
2016
Copy-number variation and association studies of human disease
2007
Alzheimer's disease
2006 Standout
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
A Functional Genetic Link between Distinct Developmental Language Disorders
2008
Single-molecule sequencing of an individual human genome
2009
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
2006
The detection of gene–environment interaction for continuous traits: should we deal with measurement error by bigger studies or better measurement?
2003
Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays
2009
Epigenetics and phenotypic variation in mammals
2006
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits
2010
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
2014 Standout
A burst of segmental duplications in the genome of the African great ape ancestor
2009 Nature
Inference of human population history from individual whole-genome sequences
2011 StandoutNature
Clonal evolution in cancer
2012 StandoutNature
Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement?
2005
The Hallmarks of Aging
2013 Standout
Diet and the evolution of human amylase gene copy number variation
2007
From RNA-seq reads to differential expression results
2010
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
2007
Enhanced Proteolysis of β-Amyloid in APP Transgenic Mice Prevents Plaque Formation, Secondary Pathology, and Premature Death
2003
Comprehensive Integration of Single-Cell Data
2019 Standout
The UCSC Genome Browser Database: update 2006
2005
Tumour evolution inferred by single-cell sequencing
2011 StandoutNature
What is a gene, post-ENCODE? History and updated definition
2007
The molecular neurobiology of depression
2008 StandoutNature
The Human Condition—A Molecular Approach
2014 StandoutNobel
Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization
2015 Standout
The Polycomb complex PRC2 and its mark in life
2011 StandoutNature
Organoid single-cell genomic atlas uncovers human-specific features of brain development
2019 StandoutNatureNobel
Evolution of human BCR–ABL1 lymphoblastic leukaemia-initiating cells
2011 Nature
Sequencing technologies — the next generation
2009 Standout
A case study of “disorganized development” and its possible relevance to genetic determinants of aging
2009
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
2009
Soluble amyloid precursor protein (APP) regulates transthyretin and Klotho gene expression without rescuing the essential function of APP
2010 StandoutNobel
Stress granules as crucibles of ALS pathogenesis
2013
The Transcriptional Landscape of the Yeast Genome Defined by RNA Sequencing
2008 StandoutScience
A multi-array multi-SNP genotyping algorithm for Affymetrix SNP microarrays
2007
Fine-scale structural variation of the human genome
2005
Genetic Mapping in Human Disease
2008 Science
A Century of Alzheimer's Disease
2006 StandoutScience
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
2007 Science
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
Diversity of Human Copy Number Variation and Multicopy Genes
2010 Science
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
2011 StandoutNobel
Delayed clearance of very low density and intermediate density lipoproteins with enhanced conversion to low density lipoprotein in WHHL rabbits.
1982 StandoutNobel
Lipoic acid biosynthesis defects
2014
High-Throughput Single Copy DNA Amplification and Cell Analysis in Engineered Nanoliter Droplets
2008
Copper induces cell death by targeting lipoylated TCA cycle proteins
2022 StandoutScience
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Nascent-Seq analysis of Drosophila cycling gene expression
2013 StandoutNobel
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
2013 Standout
Liquid phase condensation in cell physiology and disease
2017 StandoutScience
Integrated microfluidic bioprocessor for single-cell gene expression analysis
2008 StandoutNobel
Works of Lars Feuk being referenced
Strategies for the detection of copy number and other structural variants in the human genome
2006
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
2006
Towards compendia of negative genetic association studies: an example for Alzheimer disease
2005
Global and unbiased detection of splice junctions from RNA-seq data
2010
Copy number variation: New insights in genome diversity
2006
Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues
2013
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
2012
Structural variation in the human genome
2006
Detection of large-scale variation in the human genome
2004 Standout
Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease
2001
Challenges and standards in integrating surveys of structural variation
2007
Genetic variation in a haplotype block spanningIDE influences Alzheimer disease
2003
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
2006
Discovery of Human Inversion Polymorphisms by Comparative Analysis of Human and Chimpanzee DNA Sequence Assemblies
2005
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain
2011
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
2013
Genome assembly comparison identifies structural variants in the human genome
2006
Structural variants: changing the landscape of chromosomes and design of disease studies
2006
Robust and Accurate Single Nucleotide Polymorphism Genotyping by Dynamic Allele-Specific Hybridization (DASH): Design Criteria and Assay Validation
2001
Welander Distal Myopathy Caused by an Ancient Founder Mutation inTIA1Associated with Perturbed Splicing
2013