Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

1977 • 1,372 citations

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1990 • 1,032 citations

Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1993 • 573 citations

Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

1990 • 478 citations

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1991 • 460 citations

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

1991 • 455 citations

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1992 • 417 citations

Enzyme/crystallins: Gene sharing as an evolutionary strategy

1989 • 403 citations

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1991 • 381 citations

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

1991 • 364 citations

Spontaneous Mutation in Man

1975 • 346 citations

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

1993 • 323 citations

Rapid restriction mapping of DNA cloned in lambda phage vectors

1984 • 250 citations

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa

1992 • 144 citations

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

1991 • 140 citations

Cone Dystrophy, Nyctalopia, and Supernormal Rod Responses

1983 • 123 citations

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

1993 • 118 citations

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

1993 • 99 citations

Thalassaemia intermedia in Cyprus: the interaction of α and β thalassaemia

1983 • 92 citations

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive.

1980 • 75 citations

Supernormal scotopic ERG in cone dystrophy.

1984 • 57 citations

Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina

1990 • 33 citations

Retinitis pigmentosa and allied retinal diseases: electrophysiologic findings.

1976 • 30 citations

Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase

1991 • 26 citations

Effects of IBMX on the ERG of the isolated perfused cat eye

1987 • 25 citations

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

1992 • 25 citations

Two cases of retinal degeneration with an unusual form of electroretinogram

1986 • 25 citations