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

Rare Disease Genomics


  1. The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease. (2023). American Journal of Medical Genetics. In Press (accepted Sept 2023).
  2. B3GALT6-Linkeropathy: Three illustrative patients spanning the disease spectrum. (2023). European Journal of Medical Gentics. In Press. DOI: 10.1016/j.ejmg.2023.104829
  3. Enamel Renal Syndrome: A case series from sub-Saharan Africa. (2023). Frontiers in Oral Health. In Press. DOI: 10.3389/froh.2023.1228760
  4. PREPRINT: Human and computer attention in assessing genetic conditions. (2023). DOI: 10.1101/2023.07.26.23293119​​​
  5. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. (2023). American Journal of Human Genetics, 110(7): 1068-1085. DOI: 10.1016/j.ajhg.2023.06.001​
  6. PREPRINT: GestaltMatcher Database - a FAIR Database for medical imaging data of rare disorders. (2023). ​
  7. DOI: 
  8. 10.1101/2023.06.06.23290887
  9. PREPRINT: Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic di​​agnostics and yields new findings(2023). https://doi.org/10.1101/
  10. ADAR-associated Aicardi Goutières syndro​me in a child with bilateral striatal necrosis and recurrent episodes of transaminitis (2023). BMJ Case Reports, 16: e252436.

  11. Perspectives on the future of dysmorphology. (2022). American Journal of Medical Genetics Part A, In Presshttps://doi.org/10.1002/ajmg.a.63060

  12. Utility of genetic testing in children with developmental​ and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prosepctive study. ​(2022). Seizure. 101: 197-204.

  13. Undiagnosed Disease Program in South Africa: Results from first 100 exomes. (2022). American Journal of Medical Genetics Part A. 188(9): 2684-2692.  

  14. A rare case of tuberous sclerosis complex-associated renal cell carcinoma. (2022). South African Journal of Radiology. 26(1):2​406 https://sajr.org.za/index.php/sajr/article/view/2406

  15. Two South African patients with PGAP3-related Mabry syndrome wth unusually low alkaline phosphatase levels. (2022). South African Journal of Child Health. 16(4): 245-246. https://doi.org/10.7196/SAJCH.2022.v16i4.1913 ​

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

  17. 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

  18. 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

  19. ​​​​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​​

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