Hyperphosphatasia with mental retardation syndrome in South Africa: identifying a recurring PGAP3 variant by Bayley, Samantha Lee

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Optimising a clinical whole exome sequencing pipeline: diagnosing South African patients with osteogenesis imperfecta by Coetzer, Kimberly Christine

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A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines by Ismail, Rafiya

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A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders by Theron, Alannah

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