Nathan Fischel‐Ghodsian

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

Recombination at the human α-globin gene cluster: Sequence features and topological constraints

Robert D. Nicholls, Nathan Fischel‐Ghodsian, Douglas R. Higgs · Cell · 1987 · 344 citations

Linkage Disequilibrium, Topological Constraints, Genetics +7

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Yelena Bykhovskaya, Kari Casas, Emebet Mengesha et al. · The American Journal of Human Genetics · 2004 · 311 citations · Full text

Mitochondrial Myopathy, Mitochondrial Function, Biochemistry +10

A Molecular basis for human hypersensitivity of aminoglyscoside antibiotics

Tim Hutchin, lan Haworth, Koichiro Higashi et al. · Nucleic Acids Research · 1993 · 236 citations · Full text

Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

Min‐Xin Guan, Qingfeng Yan, Xiaoming Li et al. · The American Journal of Human Genetics · 2006 · 222 citations · Full text

Rna Modification, Mitochondrial Biogenesis, Mitochondrial Function +10