Citation Impact
Citing Papers
FMR1 and the fragile X syndrome: Human genome epidemiology review
2001
The fragile X syndrome.
1998
Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome
1993
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
1993 Nature
Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families.
1994
KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism
1993
Molecular and cellular genetics of fragile X syndrome
1999
Advances in Molecular Analysis of Fragile X Syndrome
1994
Functions of DNA methylation: islands, start sites, gene bodies and beyond
2012 Standout
The Empathy Quotient: An Investigation of Adults with Asperger Syndrome or High Functioning Autism, and Normal Sex Differences
2004 Standout
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
1991
Prevalence of fragile X syndrome
1996
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
The Neurobiology and Genetics of Infantile Autism
1993
Infantile autism and urinary excretion of peptides and protein-associated peptide complexes
1988
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
Triplet repeat mutations in human disease
1992 Science
Prevalence of the Fragile X Anomaly amongst Autistic Twins and Singletons
1993
The Autism-Spectrum Quotient (AQ): Evidence from Asperger Syndrome/High-Functioning Autism, Males and Females, Scientists and Mathematicians
2001 Standout
MEX-3 Is a KH Domain Protein That Regulates Blastomere Identity in Early C. elegans Embryos
1996 StandoutNobel
Executive Functions and Developmental Psychopathology
1996 Standout
The KH module has an αβ fold
1995
Dendritic Anomalies in Disorders Associated with Mental Retardation
2000 Standout
Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
1996 Standout
Social cognition skills among females with fragile X
1994
DNA Methylation and Its Basic Function
2012 Standout
Autism and Known Medical Conditions: Myth and Substance
1994
Genetic Factors in Child Psychiatric Disorders—II. Empirical Findings
1990
Transcriptional regulation of gene expression: Mechanisms and pathophysiology
1994 StandoutNobel
A risk‐factor model of epistatic interaction, focusing on autism
2002
Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey
1997
Autism as a strongly genetic disorder: evidence from a British twin study
1995 Standout
22q11.2 deletion syndrome
2015 Standout
Rare fragile sites
2003
DNA methylation and human disease
2005 Standout
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
Model of autism: increased ratio of excitation/inhibition in key neural systems
2003 Standout
Applications of the Morris water maze in the study of learning and memory
2001 Standout
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Alterations in DNA Methylation: A Fundamental Aspect of Neoplasia
1997 Standout
Language in mental retardation: Individual and syndromic differences, and neurogenetic variation 1Based on a keynote presentation at the Third European Conference on Psychological Theory and Research in Mental Retardation, Geneva, September 1st, 2000.
2001
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Genetic Influences in Autism
1990
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
Fmr1 knockout mice: A model to study fragile X mental retardation
1994
Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae
1999 Standout
Prevalence Estimation of Williams Syndrome
2002 Standout
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
Ribosomal proteins S5 and L6: high-resolution crystal structures and roles in protein synthesis and antibiotic resistance
1998 StandoutNobel
Autismo e doenças invasivas de desenvolvimento
2004 Standout
Works of A Thake being referenced
Moderate and mild mental retardation in the Martin‐Bell syndrome
1991
Replication status of fragile X(q27.3) in 13 female heterozygotes.
1986
A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.
1985
Population incidence and segregation ratios in the Martin‐Bell syndrome
1986
Fragile 22q13 segregating in a family
1984
Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy?
1985
The frequency of the fragile X chromosome among schoolchildren in Coventry.
1986