Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

Toni R. Prezant, John Agapian, Marlene C. Bohlman et al. · Nature Genetics · 1993 · 1.2K citations

Genetics, Pathogenesis, Molecular Biology +7

Compilation of small ribosomal subunit RNA sequences

Peter De Rijk, Jean‐Marc Neefs, Yves Van de Peer et al. · Nucleic Acids Research · 1992 · 975 citations · Full text

Engineering, Genetics, Molecular Biology +17

MITOMAP: a human mitochondrial genome database--2004 update

Martin Brandon · Nucleic Acids Research · 2004 · 568 citations · Full text

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides

Xavier Estivill, Nancy Govea, Anna Barceló et al. · The American Journal of Human Genetics · 1998 · 547 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +12

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

Mark J. Rieder · Nucleic Acids Research · 1998 · 507 citations · Full text

Dna, Engineering, New Variants +22