Rare Disease Genomics
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Division of Molecular B​iology and Human Genetics

Rare Disease Genomics


  1. Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prosepctive study. ​(2022). Seizure; In Press (accepted September 2022)

  2. Undiagnosed Disease Program in South Africa: Results from first 100 exomes. (2022). American Journal of Medical Genetics Part A. In Press (accepted May 2022). 

  3. A rare case of tuberous sclerosis complex-associated renal cell carcinoma. (2022). South African Journal of Radiology. 26(1):2406 https://sajr.org.za/index.php/sajr/article/view/2406​

  4. Two South African patients with PGAP3-related Mabry syndrome wth unusually low alkaline phosphatase levels. (2022). South African Journal of Child Health. In Press (accepted October 2021)​

  5. GestaltMatcher facilitates rare disease matching using facial phenotypic descriptors. (2022). Nature Genetics. 54:349-357. https://doi.org/10.1038/s41588-021-01010-x

  6. Genomic basis of syndromic short stature in an Algerian patient cohort. (2022). American Journal of Medical Genetics Part A1– 7https://doi.org/10.1002/ajmg.a.62532

  7. Novel hemizygous loss-of-function variant in NONO identified in a South African boy. (2022). American Journal of Medical Genetics Part A, https://doi.org/10.1002/ajmg.a.62509

  8. ​​​​High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. (2021). Journal of Human Geneticshttps://doi.org/10.1038/s10038-​021-00925-x​​

  9. PREPRINT: GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors​. (2021). https://doi.org/10.1101/2020.12.28.20248193​