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1993 • 7,941 citations

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1991 • 3,422 citations

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1993 • 3,080 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

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

1992 • 1,609 citations

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

1993 • 1,596 citations

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

1991 • 1,482 citations

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

1992 • 1,437 citations

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

1993 • 1,084 citations

Trinucleotide repeat length instability and age of onset in Huntington's disease

1993 • 1,062 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

Sequence identification of 2,375 human brain genes

1992 • 764 citations

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1992 • 721 citations

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

1993 • 692 citations

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

1993 • 522 citations

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

1992 • 497 citations

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

1992 • 373 citations

Familial myoclonus epilepsy and choreoathetosis

1982 • 288 citations

Novel Triplet Repeat Containing Genes in Human Brain: Cloning, Expression, and Length Polymorphisms

1993 • 210 citations

Human genes containing polymorphic trinucleotide repeats

1992 • 151 citations

Hereditary dentatorubral‐pallidoluysian atrophy

1988 • 118 citations

Unusual form of cerebellar ataxia

1958 • 112 citations

Polymerase chain reaction (PCR) for detection of APal polymorphism at the insulin like growth factor II gene (IGF2)

1991 • 105 citations

Intragenic homozygous deletion of the WT1 gene in Wilms' tumor.

1992 • 45 citations

Combined degeneration of globus pallidus and dentate nucleus and their projections

1959 • 37 citations

Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.

1990 • 12 citations

Restriction fragment length polymorphisms of the human N-myc gene: relationship to gene amplification.

1987 • 11 citations

A transcriptional analysis of the gene encoding mouse U7 small nuclear RNA

1992 • 10 citations