Color vision defects in adrenomyeloneuropathy.

Molecular Genetics of Inherited Variation in Human Color Vision

1986 • 777 citations

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1986 • 468 citations

Genetic linkage between X-chromosome markers and bipolar affective illness

1987 • 420 citations

Contiguous gene syndromes: A component of recognizable syndromes

1986 • 339 citations

Further Studies on Acquired Deficiency of Color Discrimination*

1963 • 332 citations

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

1984 • 256 citations

Adrenomyeloneuropathy

1977 • 225 citations

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.

1988 • 219 citations

Tandem Array of Human Visual Pigment Genes at Xq28

1988 • 179 citations

Proposals for scoring and assessing the 100-HUE test

1970 • 172 citations

Lignoceroyl‐CoASH ligase: enzyme defect in fatty acid β‐oxidation system in X‐linked childhood adrenoleukodystrophy

1986 • 165 citations

Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids

1988 • 158 citations

Assignment of the gene for dyskeratosis congenita to Xq28

1986 • 122 citations

Identification of female carriers of adrenoleukodystrophy

1983 • 100 citations

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

1987 • 88 citations

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).

1988 • 75 citations

The adrenoleukodystrophies.

1987 • 46 citations

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

1986 • 41 citations

Frequent alterations of visual pigment genes in adrenoleukodystrophy.

1988 • 36 citations

Electroretinograms in Carriers of Blue Cone Monochromatism

1986 • 33 citations

Colour Vision Abnormalities in Multiple Sclerosis

1987 • 32 citations

On quantifying the bipolarity and axis of the Farnsworth-Munsell 100-Hue test.

1987 • 24 citations

Heterozygote detection in X-linked recessive incomplete achromatopsia

1988 • 7 citations