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

Rare Disease Genomics

?????????????PUBLICATIONS

  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 Press. https://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 A, 1– 7. https://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 Genetics. https://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??

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