Dynamic mutations and psychiatric genetics

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 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

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

1991 • 2,062 citations

The 1993–94 Généthon human genetic linkage map

1994 • 1,870 citations

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1994 • 1,698 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

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

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

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

1993 • 373 citations

Direct detection of novel expanded trinucleotide repeats in the human genome

1993 • 275 citations

THE PROBLEM OF ANTICIPATION IN PEDIGREES OF DYSTROPHIA MYOTONICA

1947 • 259 citations

Anticipation in bipolar affective disorder.

1993 • 230 citations

The Strength of the Genetic Effect

1994 • 219 citations

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

1994 • 202 citations

Fragile-X syndrome: unique genetics of the heritable unstable element.

1992 • 201 citations

Genes with triplet repeats: candidate mediators of neuropsychiatric disorders

1993 • 187 citations

Evidence for anticipation in schizophrenia.

1994 • 181 citations

Anticipation in Huntington's disease is inherited through the male line but may originate in the female.

1988 • 171 citations

Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method

1995 • 138 citations

Imprinting and Anticipation

1994 • 93 citations

Anticipation in Swedish families with bipolar affective disorder.

1994 • 93 citations

Survey of cases of familial mental illness

1991 • 77 citations

The Huxley Lecture ON HEREDITARY ASPECTS OF NERVOUS AND MENTAL DISEASES

1910 • 66 citations

Familial myoclonic dementia masquerading as Creutzfeldt‐Jakob disease

1986 • 50 citations

Implications of genomic imprinting for psychiatric genetics

1992 • 23 citations