Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X

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

1991 • 2,062 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

The marker (X) syndrome: a cytogenetic and genetic analysis

1984 • 390 citations

Fragile sites on human chromosomes

1985 • 316 citations

Outline of Genetic Epidemiology.

1983 • 247 citations

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

1992 • 201 citations

Fragile sites in human chromosomes as regions of late-replicating DNA

1987 • 158 citations

Cognitive profiles of boys with the fragile X syndrome

1988 • 133 citations

The female and the Fragile X. A study of 144 obligate female carriers

1986 • 132 citations

Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra(X) females

1986 • 116 citations

Strengths and weaknesses in the intellectual functioning of males with fragile X syndrome.

1987 • 113 citations

The fragile X syndrome. Diagnosis, biochemistry, and intervention.

1984 • 100 citations

Clinical features and reproductive patterns in fragile X female heterozygotes.

1988 • 74 citations

Neuropsychological dimensions of the fragile X syndrome: Support for a non-dominant hemisphere dysfunction hypothesis

1990 • 73 citations

A profile of cognitive deficit in females from fragile x families

1986 • 72 citations

Phenotypic variation in male‐transmitted fragile X: Genetic inferences

1987 • 60 citations

Individual variation and specific cognitive deficits in the fra(X) syndrome

1987 • 56 citations

Anthropometry in Martin‐Bell syndrome

1988 • 47 citations

Experience with direct molecular diagnosis of fragile X.

1992 • 46 citations

Construct validity of the PPVT with neuropsychological, intellectual, and achievement measures

1988 • 32 citations

Population genetic consequences of the fragile-X syndrome, based on the X-inactivation imprinting model.

1990 • 26 citations

The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.

1987 • 25 citations

THE PROGNOSIS OF THREATENED ABORTION

1970 • 25 citations

Selective advantage of fra (X) heterozygotes

1990 • 25 citations

Suggestively increased rate of infant death in children of fra(X) positive mothers

1988 • 13 citations

Twelve families with fragile X(q27).

1986 • 9 citations

Problems in ascertainment of transmitting males in Martin‐Bell syndrome

1991 • 5 citations