Janice M. Fletcher

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 474 citations

Life Sciences, Genetics, Molecular Genetics +15

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

Christine M. Eng, Janice M. Fletcher, William R. Wilcox et al. · Journal of Inherited Metabolic Disease · 2007 · 387 citations

Life Sciences, Genetics, Epidemiology +5

Trait changes in a harvested population are driven by a dynamic tug-of-war between natural and harvest selection

Éric Édeline, Stephanie M. Carlson, Leif Christian Stige et al. · Proceedings of the National Academy of Sciences · 2007 · 217 citations · Full text

Life Sciences, Ecology, Evolutionary Biology +17

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

Bridget Wilcken, Marion Haas, Pamela Joy et al. · The Lancet · 2007 · 184 citations

Medicine, Child Health, Pediatrics +14

De novo mutations in the mitochondrial <i>ND3</i> gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Robert McFarland, Denise M. Kirby, Kerry J. Fowler et al. · Annals of Neurology · 2003 · 181 citations

Life Sciences, Genetics, Molecular Genetics +17