Annette Feigenbaum

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 485 citations

Life Sciences, Genetics, Molecular Genetics +9

Phospholipid abnormalities in children with Barth syndrome

Michael Schlame, Richard I. Kelley, Annette Feigenbaum et al. · Journal of the American College of Cardiology · 2003 · 205 citations

Life Sciences, Biochemistry, Pediatrics +6

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

Marjo S. van der Knaap, Patrick Van Der Voorn, Frederik Barkhof et al. · Annals of Neurology · 2002 · 197 citations

Medicine, Neurology, Neuroscience +17

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

David Dimmock, Michelle M. Clark, Mary Gaughran et al. · The American Journal of Human Genetics · 2020 · 190 citations · Full text

Life Sciences, Genetics, Pediatrics +15

Mitochondrial DNA depletion and <i>dGK</i> gene mutations

Leonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso et al. · Annals of Neurology · 2002 · 162 citations

Life Sciences, Genetics, Molecular Genetics +16