Andrew A. M. Morris

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Paul Gissen, Colin A. Johnson, Neil V. Morgan et al. · Nature Genetics · 2004 · 339 citations

Life Sciences, Molecular Biology, Molecular Genetics +11

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients

M. E. J. den Boer, Ronald J. A. Wanders, Andrew A. M. Morris et al. · PEDIATRICS · 2002 · 194 citations

Life Sciences, Biochemistry, Biochemical Genetics +16

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

Margaret Jackson, Jochen Schaefer, Mark A. Johnson et al. · Brain · 1995 · 167 citations

Life Sciences, Biochemistry, Neurology +17

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 140 citations · Full text

Medicine, Neurology, Pharmacotherapy +16