Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
2007 StandoutScience
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
1993
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
1995
Genome-scale DNA methylation maps of pluripotent and differentiated cells
2008 StandoutNature
Epigenetic inheritance based on DNA methylation
1993
Functions of DNA methylation: islands, start sites, gene bodies and beyond
2012 Standout
Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome
1995
Age-related changes in collagen gene expression in the muscles of mdx dystrophic and normal mice
1994
Epigenetic gene silencing in cancer – a mechanism for early oncogenic pathway addiction?
2006
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
1993 Standout
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
Calcium's Role in Mechanotransduction during Muscle Development
2014 Standout
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Cancer Metastasis: Building a Framework
2006 Standout
Challenges in Duchenne muscular dystrophy1This review is based on the first Alan Emery lecture given at Green College, Oxford, on 11th March 1997.1
1997
A Mutant Drosophila Homolog of Mammalian Clock Disrupts Circadian Rhythms and Transcription of period and timeless
1998 StandoutNobel
Structure of the human DNA repair geneHAP1and its localisation to chromosome 14q 11.2–12
1992
The FHIT Gene, Spanning the Chromosome 3p14.2 Fragile Site and Renal Carcinoma–Associated t(3;8) Breakpoint, Is Abnormal in Digestive Tract Cancers
1996 Standout
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA
1992
Triplet repeat mutations in human disease
1992 Science
Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning
2008 StandoutNature
The Epigenomics of Cancer
2007 Standout
Trinucleotide repeats associated with human disease
1997
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
Decoding ALS: from genes to mechanism
2016 StandoutNature
The structural and functional diversity of dystrophin
1993
The development of allergic inflammation
2008 StandoutNature
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Mammalian Homologues of Caenorhabditis elegans unc-13 Gene Define Novel Family of C2-domain Proteins
1995 StandoutNobel
Interaction of Nitric Oxide Synthase with the Postsynaptic Density Protein PSD-95 and α1-Syntrophin Mediated by PDZ Domains
1996 Standout
Comprehensive Analysis of mRNA Methylation Reveals Enrichment in 3′ UTRs and near Stop Codons
2012 Standout
Repeat expansion disease: progress and puzzles in disease pathogenesis
2010
Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution
1993
Gene Silencing in Cancer in Association with Promoter Hypermethylation
2003 Standout
Indoor allergens and asthma:Report of the Third International Workshop
1997
The Role of Cockroach Allergy and Exposure to Cockroach Allergen in Causing Morbidity among Inner-City Children with Asthma
1997 Standout
The fission yeast gene pmt1+encodes a DNA methyltransferase homologue
1995 StandoutNobel
Expression of full-length utrophin prevents muscular dystrophy in mdx mice
1998
Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior
2010 StandoutNobel
A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration
2003
Molecular cloning and analysis of the fragile X region in man
1991
Highly Integrated Single-Base Resolution Maps of the Epigenome in Arabidopsis
2008 Standout
The Sleep Disorder Canine Narcolepsy Is Caused by a Mutation in the Hypocretin (Orexin) Receptor 2 Gene
1999 Standout
Neural Science: A Century of Progress and the Mysteries that Remain
2000 StandoutNobel
Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice
1995 Nature
Cross-Intron Bridging Interactions in the Yeast Commitment Complex Are Conserved in Mammals
1997 StandoutNobel
Trinucleotide repeats and genome variation
1993
Mouse α1- and β2-Syntrophin Gene Structure, Chromosome Localization, and Homology with a Discs Large Domain
1995
The rsp5‐domain is shared by proteins of diverse functions
1995
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1993
A phenotypic and molecular characterization of the fmr1‐tm1Cgr Fragile X mouse
2004
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
1998 StandoutNature
Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy
2018
Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3
1994
Absence of expression of the FMR-1 gene in fragile X syndrome
1991
Chromosomal fragile sites
1991
Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy
2005
Crystal Structures of a Complexed and Peptide-Free Membrane Protein–Binding Domain: Molecular Basis of Peptide Recognition by PDZ
1996 StandoutNobel
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
A PDZ-containing Scaffold Related to the Dystrophin Complex at the Basolateral Membrane of Epithelial Cells
1999
Fragile-X syndrome: unique genetics of the heritable unstable element.
1992
Dust mite allergens and asthma: Report of a second international workshop
1992
Adhesion-dependent tyrosine phosphorylation of β-dystroglycan regulates its interaction with utrophin
2000
Characterization of the recombinant C-terminal domain of dystrophin: phosphorylation by calmodulin-dependent protein kinase II and dephosphorylation by type 2B protein phosphatase
1995
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering
1994
Alterations in DNA Methylation: A Fundamental Aspect of Neoplasia
1997 Standout
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
A stoichiometric complex of neurexins and dystroglycan in brain
2001 StandoutNobel
Syntrophin binds to an alternatively spliced exon of dystrophin.
1995
Increased Wnt Signaling During Aging Alters Muscle Stem Cell Fate and Increases Fibrosis
2007 StandoutScience
Mechanosensitive ion channels in skeletal muscle from normal and dystrophic mice.
1994
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
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.
1996 Standout
Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences.
1991
The Role of DNA Methylation in Mammalian Epigenetics
2001 StandoutScience
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
1991 Science
Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein
2001 StandoutNobel
Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n
1991 Science
High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
1992
CpG island methylator phenotype in colorectal cancer
1999 Standout
Triplet Repeat Mutations in Human Disease
1992 Science
A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands.
1992 Standout
Conserved Structures and Diversity of Functions of RNA-Binding Proteins
1994 StandoutScience
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles
2004 StandoutNobel
Molecular cloning of the human nucleotide-excision-repair gene ERCC4.
1994 StandoutNobel
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Caenorhabditis elegansLevamisole Resistance Geneslev-1,unc-29, andunc-38Encode Functional Nicotinic Acetylcholine Receptor Subunits
1997 StandoutNobel
Works of A. Roche being referenced
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
1991
A YAC contig across the fragile X site defines the region of fragility
1991
Molecular heterogeneity of the fragile X syndrome
1991
Linear order of new and established DNA markers around the fragile site at Xq27.3
1991
Molecular characterization of further dystrophin gene microsatellites
1995
Primary structure of dystrophin-related protein
1992 Nature
Cloning and sequencing of a cDNA expressing a recombinant house dust mite protein that binds human IgE and corresponds to an important low molecular weight allergen.
1989