Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Rapid evolution of animal mitochondrial DNA.

1979 • 3,420 citations

Mitochondrial DNA and human evolution

1987 • 2,967 citations

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

1990 • 1,456 citations

Pathology of the Ear

1974 • 1,222 citations

MITOCHONDRIAL DNA MUTATIONS AS AN IMPORTANT CONTRIBUTOR TO AGEING AND DEGENERATIVE DISEASES

1989 • 1,179 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

1967 • 1,002 citations

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

1990 • 847 citations

Genomic imprinting: review and relevance to human diseases.

1990 • 621 citations

THE EFFECT OF METHODS OF ASCERTAINMENT UPON THE ESTIMATION OF FREQUENCIES

1934 • 500 citations

Oxidative Phosphorylation Diseases

1990 • 338 citations

Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA

1988 • 275 citations

Principles and Practice of Medical Genetics.

1991 • 260 citations

Localization of Usher syndrome type II to chromosome 1q

1990 • 217 citations

Genetic and Metabolic Deafness

1977 • 207 citations

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.

1991 • 172 citations

Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.

1991 • 164 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes.

1991 • 159 citations

Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q

1990 • 137 citations

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

1991 • 123 citations

Variable Genotype of Leber's Hereditary Optic Neuropathy Patients

1990 • 115 citations

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

1990 • 112 citations

Nucleotide sequence preservation of human mitochondrial DNA.

1985 • 109 citations

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

1991 • 98 citations

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

1990 • 71 citations

Characterization of the 3′ half of the human type IV collagen α5 gene that is affected in the Alport syndrome

1991 • 67 citations

Complexity and tissue specificity of the mitochondrial respiratory chain

1988 • 66 citations

Family studies of early childhood deafness ascertained through the Clarke School for the Deaf.

1970 • 54 citations

Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

1990 • 41 citations

Two‐locus mitochondrial and nuclear gene models for mitochondrial disorders

1992 • 34 citations

Ornithine aminotransferase (OAT): Recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus

1990 • 12 citations

Genetic disorders of mitochondrial function

1987 • 9 citations

Genetic mapping of two new DNA markers in Xq26-q28 relative to the fragile-X syndrome locus.

1990 • 6 citations

X chromosome-linked andmitochondrial genecontrol ofLeber hereditary optic neuropathy: Evidence fromsegregation analysis fordependence onX chromosome inactivation

1991 • 4 citations