| A call for global action for rare diseases in Africa GS Baynam, S Groft, FH van der Westhuizen, SD Gassman, K du Plessis, ... Nature genetics 52 (1), 21-26, 2020 | 39 | 2020 |
| A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency FH Van der Westhuizen, I Smuts, E Honey, R Louw, M Schoonen, ... Journal of the Neurological Sciences 384, 121-125, 2018 | 23 | 2018 |
| Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies M Mereis, RJA Wanders, M Schoonen, M Dercksen, I Smuts, ... The international journal of biochemistry & cell biology 132, 105899, 2021 | 22 | 2021 |
| Panel-based nuclear and mitochondrial next-generation sequencing outcomes of an ethnically diverse pediatric patient cohort with mitochondrial disease M Schoonen, I Smuts, R Louw, JL Elson, E Van Dyk, LM Jonck, ... The Journal of Molecular Diagnostics 21 (3), 503-513, 2019 | 13 | 2019 |
| The dilemma of diagnosing coenzyme Q10 deficiency in muscle R Louw, I Smuts, KL Wilsenach, LM Jonck, M Schoonen, ... Molecular genetics and metabolism 125 (1-2), 38-43, 2018 | 11 | 2018 |
| Neuromuscular disease genetics in under-represented populations: increasing data diversity LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, ... Brain 146 (12), 5098-5109, 2023 | 4 | 2023 |
| Development of an SNP‐based parentage verification panel for lovebirds H Van der Zwan, C Visser, M Schoonen, R Van der Sluis Animal Genetics 50 (6), 764-767, 2019 | 4 | 2019 |
| A bioinformatics pipeline for rare genetic diseases in South African patients M Schoonen, AS Seyffert, FH van Der Westhuizen, I Smuts South African Journal of Science 115 (3-4), 1-3, 2019 | 3 | 2019 |
| A case for genomic medicine in South African paediatric patients with neuromuscular disease SV Raga, JM Wilmshurst, I Smuts, S Meldau, S Bardien, M Schoonen, ... Frontiers in Pediatrics 10, 1033299, 2022 | 2 | 2022 |
| Characterization of genetic variants in the SLC5A5 gene and associations with breast milk iodine concentration in lactating women of African descent: the NUPED Study SS Siro, J Baumgartner, M Schoonen, J Ngounda, L Malan, ... Frontiers in Nutrition 8, 692504, 2021 | 2 | 2021 |
| Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study M Bisschoff, I Smuts, M Dercksen, M Schoonen, ... Orphanet Journal of Rare Diseases 19 (15), 2024 | 1 | 2024 |
| Genetic variations of the PLA1A gene impact lipid-derived mediator signalling in urban pregnant woman of African descent. M Schoonen JOURNAL OF THE AMERICAN OIL CHEMISTS SOCIETY 98, 254-255, 2021 | | 2021 |
| Investigating gene mutations in a South African paediatric cohort diagnosed with mitochondrial disease M Schoonen North-West University (South Africa). Potchefstroom Campus, 2019 | | 2019 |
| SNP discovery by resequencing the Agapornis roseicollis (Peach-faced lovebird) genome using Genome Analysis Toolkit H van der Zwan, C Visser, M Schoonen, R van der Sluis | | |
