A complex mutable polymorphism located within the fragile X gene

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

1992 • 2,719 citations

Slipped-strand mispairing: a major mechanism for DNA sequence evolution.

1987 • 2,272 citations

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1991 • 2,062 citations

A second-generation linkage map of the human genome

1992 • 1,721 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

Absence of expression of the FMR-1 gene in fragile X syndrome

1991 • 1,456 citations

Slippage synthesis of simple sequence DNA

1992 • 1,091 citations

Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA

1988 • 773 citations

Mammalian subtilisins: The long-sought dibasic processing endoproteases

1991 • 756 citations

Survey of human and rat microsatellites

1992 • 559 citations

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

1993 • 522 citations

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1993 • 515 citations

A fundamental division in the Alu family of repeated sequences.

1988 • 383 citations

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

1993 • 261 citations

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

1990 • 254 citations

Origin of the expansion mutation in myotonic dystrophy

1993 • 213 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

1991 • 141 citations

The use of synthetic tandem repeats to isolate new VNTR loci: Cloning of a human hypermutable sequence

1991 • 136 citations

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 • 131 citations

A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences.

1990 • 102 citations

CAGT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

1991 • 102 citations

A Tetranucleotide Repeat Mouse Minisatellite Displaying Substantial Somatic Instability during Early Preimplantation Development

1993 • 98 citations

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

1991 • 93 citations

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

1991 • 87 citations

The fragile X syndrome: no evidence for any recent mutations.

1993 • 56 citations

The fragile X Syndrome

1992 • 30 citations

Length and sequence variation in the apolipoprotein B intron 20 Alu repeat

1992 • 7 citations

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