Citation Impact
Citing Papers
Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.
1995
Designing siRNA That Distinguish between Genes That Differ by a Single Nucleotide
2006
The DNA-damage response in human biology and disease
2009 StandoutNature
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain
1997
The Huntington's disease candidate region exhibits many different haplotypes
1992
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4
1991
Huntingtin Is Ubiquitinated and Interacts with a Specific Ubiquitin-conjugating Enzyme
1996
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
1995
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease
1999
Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases
2002 StandoutNature
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome)
1996
Widespread expression of Huntington's disease gene (IT15) protein product
1995
Tandem repeats finder: a program to analyze DNA sequences
1999 Standout
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3
2000
Huntington's disease
2007 Standout
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
2003
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
1994
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
2004 StandoutNature
Premotor Parkinson's disease: Concepts and definitions
2012
Imprinting: a gamete's point of view
1994
Mismatch repair gene Msh2 modifies the timing of early disease in HdhQ111 striatum
2003
Slipped-strand DNAs formed by long (CAG)middle dot(CTG) repeats: slipped-out repeats and slip-out junctions
2002
Lessons from Hereditary Colorectal Cancer
1996 Standout
Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection
1996 Standout
ClinVar: public archive of relationships among sequence variation and human phenotype
2013 Standout
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
1994
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
2000
Identification of the Ubiquitin Carrier Proteins, E2s, Involved in Signal-induced Conjugation and Subsequent Degradation of IκBα
1999 StandoutNobel
Alzheimer Disease: An Update on Pathobiology and Treatment Strategies
2019 Standout
The Histone Chaperone Spt6 Is Required for Activation-induced Cytidine Deaminase Target Determination through H3K4me3 Regulation
2012 StandoutNobel
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Glutamate neurotoxicity and diseases of the nervous system
1988 Standout
Trinucleotide repeats that expand in human disease form hairpin structures in vitro
1995
Molecular Genetics of Huntington’s Disease
1998
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease
2003
Protein degradation and protection against misfolded or damaged proteins
2003 StandoutNature
Parkinson's disease
2015 Standout
Protein folding and misfolding
2003 StandoutNature
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
1995
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
1996
A huntingtin-associated protein enriched in brain with implications for pathology
1995 Nature
Demographic history and linkage disequilibrium in human populations
1997 StandoutNobel
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
1999
Widespread changes in protein synthesis induced by microRNAs
2008 StandoutNature
Transgenic models of Huntington's disease
1997
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
1995
Molecular Basis of Genetic Instability of Triplet Repeats
1996
Characterization of the G Protein-coupled Receptor Kinase GRK4
1996 StandoutNobel
Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study
2002
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
2013 Standout
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
2004
Hereditary Colorectal Cancer
2003 Standout
CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain
1995
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
2000
A Novel Multiple PDZ Domain-containing Molecule Interacting withN-Methyl-d-aspartateReceptors and Neuronal Cell Adhesion Proteins
1998 StandoutNobel
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy
1995
Fatal Familial Insomnia and Familial Creutzfeldt‐Jakob Disease: Clinical, Pathological and Molecular Features
1995
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene
1993
Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA
1998
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
Sequence of the human immunoglobulin diversity (D) segment locus: a systematic analysis provides no evidence for the use of DIR segments, inverted D segments, “minor” D segments or D-D recombination 1 1Edited By J. Karn
1997 StandoutNobel
Features of trinucleotide repeat instability in vivo
2008
Reduced Penetrance of the Huntington's Disease Mutation
1997
Ferroptosis: mechanisms, biology and role in disease
2021 Standout
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
2001
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
1996
Mechanisms of trinucleotide repeat instability during human development
2010
Cellular Defenses against Unfolded Proteins
2001
Non-B DNA structure-induced genetic instability and evolution
2009
Family history and DNA analysis in patients with suspected Huntington's disease
2000
Huntington disease: new insights on the role of huntingtin cleavage
2000
Implantation and the placenta: key pieces of the development puzzle
1994 StandoutScience
Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations
1998
The genetics and natural history of hereditary colon cancer
1997
The Neuropathology of Huntington’s Disease
2014
Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation
1996
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
1997
Parkinson's Disease
2003 Standout
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
DNA instability in postmitotic neurons
2008
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
1992
2019
Likelihood methods for locating disease genes in nonequilibrium populations.
1995
Exendin-4 Improves Glycemic Control, Ameliorates Brain and Pancreatic Pathologies, and Extends Survival in a Mouse Model of Huntington's Disease
2008
Nonimmunoglobulin target loci of activation-induced cytidine deaminase (AID) share unique features with immunoglobulin genes
2012 StandoutNobel
Metabolic control of cell death
2014 Science
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
The conserved role of Krox-20 in directing Hox gene expression during vertebrate hindbrain segmentation.
1996 StandoutNobel
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
An Evolutionary View of the Mechanism for Immune and Genome Diversity
2012 StandoutNobel
DNA analysis of Huntington’s disease
1999
Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus)
1996 StandoutNobel
Predictive genetic testing for hereditary non-polyposis colorectal cancer: Uptake and long-term satisfaction
2000
Comparative sequence analysis of the human and pufferfish Huntington's disease genes
1995 StandoutNobel
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Evidence for the Conformation of the Pathologic Isoform of the Prion Protein Enciphering and Propagating Prion Diversity
1996 StandoutScienceNobel
Polyglutamine pathogenesis
1999
The actin-binding protein Hip1R associates with clathrin during early stages of endocytosis and promotes clathrin assembly in vitro
2001 StandoutNobel
Expression of Normal and Mutant Huntingtin in the Developing Brain
1996
Translocation events in the evolution of aminoacyl-tRNA synthetases.
1996 StandoutNobel
Adapting Proteostasis for Disease Intervention
2008 StandoutScience
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
1994
Familial influence on age of onset among siblings with Huntington disease*
2001
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length
1999
Identification of an evolutionarily conserved 110 base-pair cis-acting regulatory sequence that governs Wnt-1 expression in the murine neural plate
1998 StandoutNobel
Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses
1997
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
High suicidal ideation in persons testing for Huntington's disease
2000
Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain
1997 StandoutScience
Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies.
1995
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Triplet repeats strike again
1994
THE UBIQUITIN SYSTEM
1998 StandoutNobel
The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans
2002
A recombination event that redefines the Huntington disease region.
1992
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.
1995
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of Shelin Adam being referenced
Linkage disequilibrium and modification of risk for Huntington disease.
1991
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
1993
Diagnosis of Huntington disease: A model for the stages of psychological response based on experience of a predictive testing program
1993
Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease
1995
Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk
1992
Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk
1992
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
1993
Risk Reversals in Predictive Testing for Huntington Disease
1997
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
1994
Genetics professionals' perspectives on reporting incidental findings from clinical genome‐wide sequencing
2013
The Psychological Consequences of Predictive Testing for Huntington’s Disease
1992
Huntington disease without CAG expansion: phenocopies or errors in assignment?
1994
Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.
1996
Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.
1993
Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease.
1993