Kate Craig

Pathogenic Mitochondrial t <scp>RNA</scp> Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Emma L. Blakely, John W. Yarham, Charlotte L. Alston et al. · Human Mutation · 2013 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert D. S. Pitceathly, Conrad Smith, Carl Fratter et al. · Brain · 2012 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Johanna Uusimaa, Julie Evans, Conrad Smith et al. · European Journal of Human Genetics · 2013 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

Abdulrahman Al‐Hussaini, Eissa Faqeih, Ayman W. El‐Hattab et al. · The Journal of Pediatrics · 2013 · 69 citations

Medicine, Molecular Biology, Pediatrics +17

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

Patrick McKiernan, Sarah Ball, Saikat Santra et al. · Journal of Pediatric Gastroenterology and Nutrition · 2016 · 54 citations · Full text

Medicine, Genetics, Pediatrics +17