Maryke Schoonen

A call for global action for rare diseases in Africa

Gareth Baynam, Stephen C. Groft, Francois H. van der Westhuizen et al. · Nature Genetics · 2019 · 63 citations · Full text

Epidemiology, Global Health, Malaria +12

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency

Francois H. van der Westhuizen, Izelle Smuts, Engela Honey et al. · Journal of the Neurological Sciences · 2017 · 26 citations

Novel Mutation, Developmental Biology, Mendelian Disorder +9

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Lindsay A. Wilson, William L. Macken, Luke Perry et al. · Brain · 2023 · 24 citations · Full text

Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease

Maryke Schoonen, Izelle Smuts, Roan Louw et al. · Journal of Molecular Diagnostics · 2019 · 17 citations · Full text

Panel-based Nuclear, Mitochondrial Function, Pediatric Epidemiology +10

The dilemma of diagnosing coenzyme Q10 deficiency in muscle

Roan Louw, Izelle Smuts, Kimmey-Li Wilsenach et al. · Molecular Genetics and Metabolism · 2018 · 12 citations

Physiology, Muscle Function, Skeletal Muscle +1