Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Birth Outcomes Following West Nile Virus Infection of Pregnant Women in the United States: 2003-2004
2006
Mismatch Repair-dependent Iterative Excision at Irreparable O6-Methylguanine Lesions in Human Nuclear Extracts
2006 StandoutNobel
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
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications
2006
The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p
1992
Microsatellite Instability in Colorectal Cancer
2010 Standout
The epidemiology of Huntington's disease
1992
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice
2010
Tandem repeats finder: a program to analyze DNA sequences
1999 Standout
Genetic associations with human longevity at the APOE and ACE loci
1994 Standout
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Huntington's disease
2007 Standout
The GRK4 Subfamily of G Protein-coupled Receptor Kinases
1999 StandoutNobel
Mapping of cosmid clones in Huntington's disease region of chromosome 4
1991
Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid β-peptide
2007 Standout
Focal adhesion kinase: in command and control of cell motility
2005 Standout
Mitochondrial diabetes mellitus: a review
1995
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
2005
Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection
1996 Standout
Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome
2000
The new bone biology: Pathologic, molecular, and clinical correlates
2006
Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study
2015 Standout
The Role of X Inactivation and Cellular Mosaicism in Women's Health and Sex-Specific Diseases
2006
Nonrandom association between huntington disease and two loci separated by about 3 Mb on 4p16.3
1992
Telomeres
1991 StandoutNobel
Network organization of the human autophagy system
2010 StandoutNature
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Sex and gender: modifiers of health, disease, and medicine
2020 Standout
New DNA markers in the Huntington's disease gene candidate region
1991
Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk
1992
TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
2004
Novel Roles for MLH3 Deficiency and TLE6-Like Amplification in DNA Mismatch Repair-Deficient Gastrointestinal Tumorigenesis and Progression
2008 StandoutNobel
Generation and characterization of irradiation hybrids of human chromosome 4
1991
Demographic history and linkage disequilibrium in human populations
1997 StandoutNobel
NEW EMBO MEMBER'S REVIEW: The integrin-actin connection, an eternal love affair
2003
Annual report to the nation on the status of cancer, 1975‐2006, featuring colorectal cancer trends and impact of interventions (risk factors, screening, and treatment) to reduce future rates
2009 Standout
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region
1992
Gene Silencing in Cancer in Association with Promoter Hypermethylation
2003 Standout
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
2005
Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer
2007 Standout
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
Genetic predisposition to colorectal cancer
2004
A Novel Multiple PDZ Domain-containing Molecule Interacting withN-Methyl-d-aspartateReceptors and Neuronal Cell Adhesion Proteins
1998 StandoutNobel
PROTAC targeted protein degraders: the past is prologue
2022 Standout
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
Telomeric repeat from T. thermophila cross hybridizes with human telomeres
1988 StandoutNatureNobel
Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey
2009
The many roles of histone deacetylases in development and physiology: implications for disease and therapy
2008 Standout
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene
1993
Further delineation of cardiac abnormalities in Costello syndrome
2002
Zika Virus and Birth Defects — Reviewing the Evidence for Causality
2016 Standout
A ROCK inhibitor permits survival of dissociated human embryonic stem cells
2007 Standout
A decade of exploring the cancer epigenome — biological and translational implications
2011 Standout
Technical report: ethical and policy issues in genetic testing and screening of children
2013
Organ‐specific profiles of genetic changes in cancers caused by activation‐induced cytidine deaminase expression
2008 StandoutNobel
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
2009
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
2006
Mining electronic health records: towards better research applications and clinical care
2012 Standout
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
2003
DNA methylation and human disease
2005 Standout
Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification
1992
Huntingtons Disease
1986
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
1992
The functional anatomy of basal ganglia disorders
1989 Standout
A genetic screen in zebrafish identifies the mutantsvps18, nf2andfoie grasas models of liver disease
2005
A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients.
1990
Likelihood methods for locating disease genes in nonequilibrium populations.
1995
Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice.
1996
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
The affected-pedigree-member method of linkage analysis.
1988
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
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
Neural Science
2000 StandoutNobel
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
1990 StandoutScience
Genetic Dissection of Complex Traits
1994 StandoutScience
Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease
1993 Standout
Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere
1987
Neuroscience: Breaking Down Scientific Barriers to the Study of Brain and Mind
2000 StandoutScienceNobel
Oxidative Stress, Glutamate, and Neurodegenerative Disorders
1993 StandoutScience
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Defined physical limits of the Huntington disease gene candidate region.
1991
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
2006 StandoutScience
TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
2004
Age at onset in Huntington's disease and methylation at D4S95.
1993
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
1990
Complex patterns of linkage disequilibrium in the Huntington disease region.
1991
A recombination event that redefines the Huntington disease region.
1992
A multilocus extension of the affected-pedigree-member method of linkage analysis.
1992
Works of Oliver Quarrell being referenced
Exclusion testing in pregnancy for Huntington's disease.
1990
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
2003
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes
2001
Genetic professionals' reports of nondisclosure of genetic risk information within families
2005
Syndromes with lissencephaly.
1996
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
1994
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families
1986
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.
1995 Nobel
Population studies of Huntington's disease in Wales
1988
EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER
1987
Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease.
1990
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
1985
Costello syndrome: two cases with embryonal rhabdomyosarcoma.
1998
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.
1991
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
1989
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
1994
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.
1989