Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

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

1989 • 3,707 citations

Defective myosin VIIA gene responsible for Usher syndrome type IB

1995 • 1,051 citations

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

1990 • 1,032 citations

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

1994 • 740 citations

Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel

1989 • 663 citations

Primary structure and functional expression of a cyclic nucleotide-activated channel from olfactory neurons

1990 • 650 citations

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

1991 • 492 citations

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

1991 • 460 citations

A Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa

1993 • 450 citations

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

1991 • 381 citations

A new subunit of the cyclic nucleotide-gated cation channel in retinal rods

1993 • 370 citations

Phototransduction mechanism in retinal rods and cones. The Friedenwald Lecture.

1994 • 335 citations

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

1995 • 286 citations

Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration.

1995 • 239 citations

Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression

1992 • 150 citations

The cGMP-gated channel of the rod photoreceptor cell characterization and orientation of the amino terminus.

1991 • 129 citations

Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel.

1992 • 112 citations

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

1994 • 101 citations

Polymorphisms and rare sequence variants at the ROM1 locus

1993 • 18 citations

Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA

1990 • 10 citations