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

Rare Disease Genomics


  1. Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome. (2024). American Journal of Medical Genetics Part A. Accepted April 2024.​​
  2. Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa. (2024). European Journal of Human Genetics​. ​doi: 10.1038/s41431-024-01582-2. Epub ahead of print.
  3. PREPRINT: Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome. (2024). DOI: 10.1101/2024.02.15.24302695​
  4. Comparison of clinical geneticist and computer visual attention in assessing genetic conditions. (2024). PLoS Genet. 20(2):e1011168. doi: 10.1371/journal.pgen.1011168. 
  5. Genetic screening of South African families with Parkinson’s disease. (2024). South African Medical Journal. 114(2):55-56.​
  6. Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa​. (2023). European Journal of Human Genetics. Accepted December 2023.
  7. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functionns of eL13. ​(2023). npj Genomic Medicine, 8(1):39.
  8. The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease. (2023). American Journal of Medical Genetics. 194(2): 358-362. DOI: 10.1002/ajmg.a.63420
  9. B3GALT6-Linkeropathy: Three illustrative patients spanning the disease spectrum. (2023). European Journal of Medical Gene​tics. 66(10): 104829. DOI: 10.1016/j.ejmg.2023.104829
  10. Enamel Renal Syndrome: A case series from sub-Saharan Africa. (2023). Frontiers in Oral Health. 4: 1228760. DOI: 10.3389/froh.2023.1228760
  11. PREPRINT: Human and computer attention in assessing genetic conditions. (2023). DOI: 10.1101/2023.07.26.23293119​​​
  12. 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​
  13. PREPRINT: GestaltMatcher Database - a FAIR Database for medical imaging data of rare disorders. (2023). 
  14. DOI: 
  15. 10.1101/2023.06.06.23290887
  16. 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/10.1101/2023.04.19.23288824
  17. ADAR-associated Aicardi Goutières syndro​me in a child with bilateral striatal necrosis and recurrent episodes of transaminitis (2023). BMJ Case Reports, 16: e252436.

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

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

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

  21. 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

  22. 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 ​

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

  24. 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

  25. 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

  26. ​​​​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​​

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