Deborah Koontz

Oxidative damage to mitochondrial DNA shows marked age‐dependent increases in human brain

Patrizia Mecocci, Usha MacGarvey, A. Kaufman et al. · Annals of Neurology · 1993 · 757 citations

Life Sciences, Genetics, Neuroscience +15

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

Scott W. Ballinger, John M. Shoffner, Ellis V. Hedaya et al. · Nature Genetics · 1992 · 616 citations

Life Sciences, Genetics, Molecular Genetics +12

Subacute necrotizing encephalopathy

John M. Shoffner, Paul M. Fernhoff, N. Krawiecki et al. · Neurology · 1992 · 154 citations

Life Sciences, Genetics, Molecular Genetics +17

Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank

Quan-He Yang, Lorenzo D. Botto, Margaret Gallagher et al. · American Journal of Clinical Nutrition · 2008 · 147 citations

Life Sciences, Genetics, Nutritional Sciences +15

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

John M. Shoffner, Michael D. Brown, Carol Stugard et al. · Annals of Neurology · 1995 · 113 citations

Life Sciences, Genetics, Molecular Genetics +17