Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
MutL traps MutS at a DNA mismatch
2015 StandoutNobel
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
2013
Transition in Specification of Embryonic Metazoan DNA Replication Origins
1995 StandoutScience
A possible mechanism for exonuclease 1-independent eukaryotic mismatch repair
2009 StandoutNobel
The X chromosome and fragile X mental retardation
2002
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
2013
Trinucleotide repeats: triggers for genomic disorders?
2010
The DNA-damage response in human biology and disease
2009 StandoutNature
(CAG)n-hairpin DNA binds to Msh2–Msh3 and changes properties of mismatch recognition
2005
Relative Unidirectional Translation in an Artificial Molecular Assembly Fueled by Light
2013 StandoutNobel
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
2016 StandoutNature
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration
2015
Expansion of CTG repeats from human disease genes is dependent upon replication mechanisms in Escherichia coli: the effect of long patch mismatch repair revisited
1998
Length-dependent structure formation in Friedreich ataxia (GAA)n{middle dot}(TTC)n repeats at neutral pH
2004
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
2013
R loops: new modulators of genome dynamics and function
2015
Myotonic dystrophy, knockouts, warts
1996
Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells
2004
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
2002
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Pms2 is a genetic enhancer of trinucleotide CAG{middle dot}CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
2004
Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks
2009 StandoutNobel
A Mutant Drosophila Homolog of Mammalian Clock Disrupts Circadian Rhythms and Transcription of period and timeless
1998 StandoutNobel
Interactions of Human Mismatch Repair Proteins MutSα and MutLα with Proteins of the ATR-Chk1 Pathway
2009 StandoutNobel
Mismatch repair gene Msh2 modifies the timing of early disease in HdhQ111 striatum
2003
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
2014 Nature
Hydrolytic function of Exo1 in mammalian mismatch repair
2014 StandoutNobel
Activation-Induced Cytidine Deaminase Induces Reproducible DNA Breaks at Many Non-Ig Loci in Activated B Cells
2011
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
2016 StandoutNobel
Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected*
2002
Expandable DNA repeats and human disease
2007 Nature
Small Slipped Register Genetic Instabilities in Escherichia coli in Triplet Repeat Sequences Associated with Hereditary Neurological Diseases
1998
Increased Negative Superhelical Density in Vivo Enhances the Genetic Instability of Triplet Repeat Sequences
2005
Trinucleotide repeats associated with human disease
1997
Transcription as a source of genome instability
2012
Decoding ALS: from genes to mechanism
2016 StandoutNature
The Histone Chaperone Spt6 Is Required for Activation-induced Cytidine Deaminase Target Determination through H3K4me3 Regulation
2012 StandoutNobel
DNA Ligase I Competes with FEN1 to Expand Repetitive DNA Sequences in Vitro
2002
RNA phase transitions in repeat expansion disorders
2017 Nature
The molecular basis of common and rare fragile sites
2005
Binding characteristics of Ustilago maydis topoisomerase I to DNA containing secondary structures
1998
RNA and microRNAs in fragile X mental retardation
2004
Microsatellite repeat instability and neurological disease
2009
Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
2018
Repeat expansion disease: progress and puzzles in disease pathogenesis
2010
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
1999
Non-B DNA structure-induced genetic instability
2006
Estrogen Receptors in Human Nontarget Tissues: Biological and Clinical Implications*
1995
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Structures of helical junctions in nucleic acids
2000
MutLα and Proliferating Cell Nuclear Antigen Share Binding Sites on MutSβ
2010 StandoutNobel
Nucleic Acid Based Molecular Devices
2011
Mechanism of Stimulation of Human DNA Ligase I by the Rad9-Rad1-Hus1 Checkpoint Complex
2006 StandoutNobel
Length of CTG·CAG repeats determines the influence of mismatch repair on genetic instability 1 1Edited by M. Yaniv
2000
RNA-binding proteins in human genetic disease
2020
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
2013
Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death
2014
Features of trinucleotide repeat instability in vivo
2008
Molecular basis of agonism and antagonism in the oestrogen receptor
1997 StandoutNature
The phylogenetic distribution of metazoan microRNAs: insights into evolutionary complexity and constraint
2006
Accelerating progress in induced pluripotent stem cell research for neurological diseases
2012
Early origins and evolution of microRNAs and Piwi-interacting RNAs in animals
2008 StandoutNature
CTG repeats associated with human genetic disease are inherently flexible
1998
Non-B DNA Conformations, Genomic Rearrangements, and Human Disease
2004
Chemistry of Class 1 CRISPR-Cas effectors: Binding, editing, and regulation
2020 StandoutNobel
Clonal evolution in cancer
2012 StandoutNature
Functions of MutLα, Replication Protein A (RPA), and HMGB1 in 5′-Directed Mismatch Repair
2009 StandoutNobel
The chronic myeloproliferative disorders: Clonality and clinical heterogeneity
2004
Analysis of DNA Replication Intermediates Suggests Mechanisms of Repeat Sequence Expansion
2003
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability
2010
Non-B DNA structure-induced genetic instability and evolution
2009
Mechanisms and functions of DNA mismatch repair
2007
Analysis of Ribonucleotide Removal from DNA by Human Nucleotide Excision Repair
2015 StandoutNobel
Non-B DNA Conformations Formed by Long Repeating Tracts of Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 2, and Friedreich's Ataxia Genes, Not the Sequences per se, Promote Mutagenesis in Flanking Regions
2006
Transcriptional responses to loss of RNase H2 in Saccharomyces cerevisiae
2012
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
2005 StandoutNature
A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
2005 Standout
DNA methylation and human disease
2005 Standout
R Loops: From Transcription Byproducts to Threats to Genome Stability
2012
Differential integrity of TALE nuclease genes following adenoviral and lentiviral vector gene transfer into human cells
2012
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
MSH2-Dependent Germinal CTG Repeat Expansions Are Produced Continuously in Spermatogonia from DM1 Transgenic Mice
2003
Accumulation of the FACT complex, as well as histone H3.3, serves as a target marker for somatic hypermutation
2013 StandoutNobel
Recombination-dependent deletion formation in mammalian cells deficient in the nucleotide excision repair gene ERCC1
1997
Nonimmunoglobulin target loci of activation-induced cytidine deaminase (AID) share unique features with immunoglobulin genes
2012 StandoutNobel
R loops stimulate genetic instability of CTG·CAG repeats
2009
Quality Control by DNA Repair
1999 StandoutScienceNobel
Polycythemia vera: analysis of DNA from blood granulocytes using comparative genomic hybridization.
2001
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Modeling hepatitis C virus infection using human induced pluripotent stem cells
2012 StandoutNobel
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
AID-induced decrease in topoisomerase 1 induces DNA structural alteration and DNA cleavage for class switch recombination
2009 StandoutNobel
Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase I
2005
Topoisomerase 1 and Single-Strand Break Repair Modulate Transcription-Induced CAG Repeat Contraction in Human Cells
2011
Modeling and design by hierarchical natural moves
2012 StandoutNobel
PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance
2010 StandoutNobel
Progressive engineering of a homing endonuclease genome editing reagent for the murine X-linked immunodeficiency locus
2014 StandoutNobel
Field-effect transistors made from solution-processed organic semiconductors
1997
Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress
2013
Ambipolar, Single‐Component, Metal–Organic Thin‐Film Transistors with High and Balanced Hole and Electron Mobilities
2008 StandoutNobel
megaTALs: a rare-cleaving nuclease architecture for therapeutic genome engineering
2013 StandoutNobel
Triplet repeats form secondary structures that escape DNA repair in yeast
1999
Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae
1998
Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders
2003
Fission yeast orb 6, a ser/thr protein kinase related to mammalian rho kinase and myotonic dystrophy kinase, is required for maintenance of cell polarity and coordinates cell morphogenesis with the cell cycle
1998 StandoutNobel
Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-3 mutation
2013 StandoutNobel
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
2013
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Evolutionary Comparison of the Mechanism of DNA Cleavage with Respect to Immune Diversity and Genomic Instability
2012 StandoutNobel
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
2013 Science
CRISPR-Cas guides the future of genetic engineering
2018 StandoutScienceNobel
Organic-Inorganic Hybrid Materials as Semiconducting Channels in Thin-Film Field-Effect Transistors
1999 StandoutScience
Integrated Optoelectronic Devices Based on Conjugated Polymers
1998 StandoutScience
GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function
2015
High electron mobility in nickel bis(dithiolene) complexes
2007
Liquid phase condensation in cell physiology and disease
2017 StandoutScience
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Identification of an Origin of Bidirectional DNA Replication in the Ubiquitously Expressed Mammalian CAD Gene
1995
Works of Christopher E. Pearson being referenced
RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila
2003
Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability
2005
The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence
2003
Cruciform DNA binding protein in HeLa cell extracts
1994
Plasmids bearing mammalian DNA-replication origin-enriched (ors) fragments initiate semiconservative replication in a cell-free system
1991
Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!
2011
Role of Replication and CpG Methylation in Fragile X Syndrome CGG Deletions in Primate Cells
2005
Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA
2002
Slipped (CTG)•(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair
2005
The incidences of trisomy 8, trisomy 9 and D20S108 deletion in polycythaemia vera: an analysis of blood granulocytes using interphase fluorescence in situ hybridization
2000
Slipped-strand DNAs formed by long (CAG)middle dot(CTG) repeats: slipped-out repeats and slip-out junctions
2002
MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice
2009
Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation
2010
Fidelity of Primate Cell Repair of a Double-strand Break within a (CTG)·(CAG) Tract
2003
Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
1997
CpG Methylation Modifies the Genetic Stability of Cloned Repeat Sequences
2002
In Vitro (CTG)·(CAG) Expansions and Deletions by Human Cell Extracts
2002
The Disease-associated r(GGGGCC) Repeat from the C9orf72 Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
2013
Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats
2010
Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines
1996
Repeat instability: mechanisms of dynamic mutations
2005
Repeat instability as the basis for human diseases and as a potential target for therapy
2010
CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination
2008
Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
2002
Slipping while sleeping? Trinucleotide repeat expansions in germ cells
2003
Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells
2003
DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region of FMR1
2005
Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA
1998
Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats
2010
Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation
1998
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia
2012
A novel type of interaction between cruciform DNA and a cruciform binding protein from HeLa cells.
1995
Estrogen receptor and hormone responsiveness of medullary thyroid carcinoma cells in continuous culture.
1988
Alternative Structures in Duplex DNA Formed within the Trinucleotide Repeats of the Myotonic Dystrophy and Fragile X Loci
1996
Repeat instability : mechanisms of dynamic mutations
2005
Field-effect transistor based on organometallic Langmuir-Blodgett film
1993
Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n. (CAG)n repeats from the myotonic dystrophy locus
1998