Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
Programmable RNA recognition using a CRISPR-associated Argonaute
2018 StandoutNobel
Hairpin-bisulfite PCR: Assessing epigenetic methylation patterns on complementary strands of individual DNA molecules
2003
The X chromosome and fragile X mental retardation
2002
FMRP targets distinct mRNA sequence elements to regulate protein expression
2012 Nature
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
1993
Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
1994
FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding
1993 Science
Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome
2014 Science
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
1995
Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome
1995
Characterization of the pufferfish (Fugu) genome as a compact model vertebrate genome
1993 StandoutNatureNobel
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
1991
Mouse genetic models for prepulse inhibition: an early review
2002
Control of type-D GABAergic neuron differentiation by C. elegans UNC-30 homeodomain protein
1994 StandoutNatureNobel
Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises
2011
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
1992 Nature
The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence
2003
Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells
2004
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
1993 StandoutNature
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
Defective Expression of CD40 Ligand on T Cells Causes “X‐Linked Immunodeficiency with Hyper‐IgM (HIGM1)”
1994
Role of Replication and CpG Methylation in Fragile X Syndrome CGG Deletions in Primate Cells
2005
Gilbert’s conjecture: the search for DNA (cytosine-5) demethylases and the emergence of new functions for eukaryotic DNA (cytosine-5) methyltransferases 1 1Edited by J. Karn
2000
A phosphatidylinositol-3-OH kinase family member regulating longevity and diapause in Caenorhabditis elegans
1996 StandoutNatureNobel
Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon
1994
Hhal methyltransferase flips its target base out of the DNA helix
1994 Nobel
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
1998 StandoutNatureNobel
Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells
1996
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA
1992
Triplet repeat mutations in human disease
1992 Science
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
2016 StandoutNobel
DNA methylation in health and disease
2000
Knockout mouse model for Fxr2: a model for mental retardation
2002
An Alternatively Spliced C. elegans ced-4 RNA Encodes a Novel Cell Death Inhibitor
1996 StandoutNobel
The CRISPR System: Small RNA-Guided Defense in Bacteria and Archaea
2010
The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14
1993 StandoutNobel
MEX-3 Is a KH Domain Protein That Regulates Blastomere Identity in Early C. elegans Embryos
1996 StandoutNobel
Oxidative demethylation by Escherichia coli AlkB directly reverts DNA base damage
2002 StandoutNatureNobel
The molecular basis of common and rare fragile sites
2005
RNA and microRNAs in fragile X mental retardation
2004
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9
2017
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
1996
Repeat expansion disease: progress and puzzles in disease pathogenesis
2010
The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat
1998
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
1992 Nature
RNA-guided genetic silencing systems in bacteria and archaea
2012 StandoutNatureNobel
X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene
1999
Molecular cloning and analysis of the fragile X region in man
1991
Perceptions of epigenetics
2007 StandoutNature
Reverse Mutation in Myotonic Dystrophy
1993
Unique features of long non-coding RNA biogenesis and function
2015 Standout
Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
1991
Cross-Intron Bridging Interactions in the Yeast Commitment Complex Are Conserved in Mammals
1997 StandoutNobel
Loss of autophagy in the central nervous system causes neurodegeneration in mice
2006 StandoutNature
Trinucleotide repeats and genome variation
1993
Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans
1993
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1993
twine, a cdc25 homolog that functions in the male and female germline of drosophila
1992 StandoutNobel
Phosphoinositides in cell regulation and membrane dynamics
2006 StandoutNature
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
1991 StandoutNobel
Clonal evolution in cancer
2012 StandoutNature
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
1998 StandoutNature
The Primary Immunodeficiencies
1995
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
1992
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
1990 StandoutNature
Absence of expression of the FMR-1 gene in fragile X syndrome
1991
Rare fragile sites
2003
DNA methylation and human disease
2005 Standout
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
CD40 ligand on activated platelets triggers an inflammatory reaction of endothelial cells
1998 StandoutNature
Fragile-X syndrome: unique genetics of the heritable unstable element.
1992
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
1989 StandoutScience
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness
1987
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease
2000 StandoutScience
Epigenetic Reprogramming in Mammalian Development
2001 StandoutScience
Fragile X Genotype Characterized by an Unstable Region of DNA
1991 Science
Computer Simulation of the Chemical Catalysis of DNA Polymerases: Discriminating between Alternative Nucleotide Insertion Mechanisms for T7 DNA Polymerase
2003 StandoutNobel
Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene
1992 Science
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
Proposed Mechanism of Inheritance and Expression of the Human Fragile-X Syndrome of Mental Retardation
1987
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Neural Science
2000 StandoutNobel
Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.
1991
Prolonged and effective blockade of tumor necrosis factor activity through adenovirus-mediated gene transfer.
1994 StandoutNobel
The fragile X: progress toward solving the puzzle.
1990
Crystal Structure of DNA Photolyase from Escherichia coli
1995 StandoutScienceNobel
THE MOLECULAR BASIS OF X-LINKED SEVERE COMBINED IMMUNODEFICIENCY: Defective Cytokine Receptor Signaling
1996
Two functionally dependent acetylcholine subunits are encoded in a single Caenorhabditis elegans operon
1998 StandoutNobel
Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
2005 StandoutNobel
Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-3 mutation
2013 StandoutNobel
Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n
1991 Science
Biallelic inactivation of hMLH 1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers
1998 StandoutNobel
Fusion of a Kinase Gene, ALK , to a Nucleolar Protein Gene, NPM , in Non-Hodgkin's Lymphoma
1994 StandoutScience
Serotonin receptor 1A knockout: An animal model of anxiety-related disorder
1998
Serotonin receptor knockouts: A moody subject
1998 StandoutNobel
Requirement of Hippocampal Neurogenesis for the Behavioral Effects of Antidepressants
2003 StandoutScience
Reduction in Size of the Myotonic Dystrophy Trinucleotide Repeat Mutation During Transmission
1993 Science
CRISPR-Cas guides the future of genetic engineering
2018 StandoutScienceNobel
Triplet Repeat Mutations in Human Disease
1992 Science
Conserved Structures and Diversity of Functions of RNA-Binding Proteins
1994 StandoutScience
XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation.
1988
Defective Lymphoid Development in Mice Lacking Jak3
1995 StandoutScienceNobel
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
1993
Works of I. Oberlé being referenced
Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome.
1990
Genetic mapping of new RFLPs at Xq27–q28
1991
Study of a family with a fragile site of the X chromosome at Xq27–28 without mental retardation
1989
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
1991 Nature
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia
1989
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR‐1 CpG Island, and no clear phenotypic association
1992
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
1991
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
1992
Direct DNA analysis of fragile X syndrome in Spanish pedigrees
1992
Rapid PCR analysis of the St14 (DXS52) VNTR
1991
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.
1987
Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.
1991
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome
1986
The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.
1985
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
1991 Science
Genetic Screening for Hemophilia A (Classic Hemophilia) with a Polymorphic DNA Probe
1985
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.
1990
Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.
1986
Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island
1991 Science