Kristen C. Hoffbuhr

Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy

Hana Antonická, André Mattman, Christopher G. Carlson et al. · The American Journal of Human Genetics · 2003 · 327 citations · Full text

Medicine, Cardiology, Genetics +13

<i>MeCP2</i> mutations in children with and without the phenotype of Rett syndrome

Kristen C. Hoffbuhr, Joseph M. Devaney, Bonnie LaFleur et al. · Neurology · 2001 · 227 citations

Life Sciences, Genetics, Molecular Genetics +17

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

J. Andrew Keightley, Kristen C. Hoffbuhr, Miriam D. Burton et al. · Nature Genetics · 1996 · 194 citations

Life Sciences, Genetics, Molecular Genetics +10

Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome

Gabriele V. Ronnett, Donald A. Leopold, Xiaohe Cai et al. · Annals of Neurology · 2003 · 102 citations

Medicine, Neurobiology, Neuroscience +17

A Pathogenic 15-Base Pair Deletion in Mitochondrial DNA-encoded Cytochrome c Oxidase Subunit III Results in the Absence of Functional Cytochrome c Oxidase

Kristen C. Hoffbuhr, Edgar Davidson, Beth A. Filiano et al. · Journal of Biological Chemistry · 2000 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17