Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

Faster sequential genetic linkage computations.

1993 • 1,378 citations

Cyclic GMP Cascade of Vision

1986 • 1,168 citations

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

1987 • 875 citations

An efficient salt-chloroform extraction of DNA from blood and tissues.

1989 • 638 citations

Structural determinants for activation of the α-subunit of a heterotrimeric G protein

1994 • 636 citations

Visual excitation and recovery

1991 • 530 citations

Color Vision : From Genes to Perception

2000 • 512 citations

Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

1998 • 327 citations

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

2001 • 309 citations

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

2000 • 290 citations

Identification of Specific Transducin α Subunits in Retinal Rod and Cone Photoreceptors

1986 • 272 citations

Genetic basis of total colourblindness among the Pingelapese islanders

2000 • 229 citations

Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

1996 • 185 citations

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

1992 • 151 citations

Mapping of contact sites in complex formation between transducin and light-activated rhodopsin by covalent crosslinking: Use of a photoactivatable reagent

2001 • 137 citations

Genetic Diseases of the Eye

2012 • 135 citations

α transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina

1989 • 129 citations

The cone dystrophies

1998 • 117 citations

Night Vision: Basic, Clinical and Applied Aspects

1990 • 94 citations

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis

1997 • 88 citations

Human Rod Monochromacy: Linkage Analysis and Mapping of a Cone Photoreceptor Expressed Candidate Gene on Chromosome 2q11

1998 • 66 citations

Novel approaches to linkage mapping

1995 • 62 citations

Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.

1990 • 56 citations

Cyclic GMP Cascade of Vision

1986 • 54 citations

Homozygosity Mapping of the Achromatopsia Locus in the Pingelapese

1999 • 46 citations

Linkage Studies of Non-Syndromic Recessive Deafness (NSRD) in a Family Originating from the Mirpur Region of Pakistan Maps DFNB1 Centromeric to D13S175

1996 • 46 citations

Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta

1993 • 40 citations

Characterization of the Gene Encoding Human Cone Transducin α-Subunit (GNAT2)

1993 • 36 citations

Interaction Sites of the COOH-terminal Region of the γ Subunit of cGMP Phosphodiesterase with the GTP-bound α Subunit of Transducin

1996 • 34 citations

A locus for Fanconi anemia on 16q determined by homozygosity mapping.

1996 • 34 citations

Total colour blindness: an introduction

1990 • 34 citations

The medical school.

1947 • 22 citations

Characterization of the human rod transducin alpha-subunit gene

1992 • 14 citations

Mapping of the human cone transducin α-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

1995 • 7 citations

Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome

1996 • 4 citations