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

Rare Disease Genomics

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  1. Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals. Orphanet Journal of Rare Diseases 20, 365 (2025). https://doi.org/10.1186/s13023-025-03875-1?
  2. The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa. European Journal of Human Genetics. 2025 Jun 25. doi: 10.1038/s41431-025-01900-2. Epub ahead of print. PMID: 40562809.
  3. Deep Brain Stimulation Improves Symptoms in an Individual with Alpha-Synuclein-Gene-Associated Parkinson's Disease. Movement Disorders in Clinical Practice. 2025 Mar 29. doi: 10.1002/mdc3.70057. Epub ahead of print. PMID: 40156366.??
  4. Advancing Genetic Counselling in Southern Africa: Unveiling Opportunities for Inclusive Healthcare and Genomic Education for Angola (2025) - Saudi Medical Journal. 2025 Apr;46(4):335-344. doi: 10.15537/smj.2025.46.4.20240370. PMID: 40254330; PMCID: PMC12010490.???
  5. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Valididty of 111 Gene-Disease Relationships (2025) - Genetics in Medicine Open. 2025 Apr 9;3:103429. doi: 10.1016/j.gimo.2025.103429. PMID: 40496713; PMCID: PMC12151239.?
  6. GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders? (2025) European J ournal of Human Genetics. 2025 Mar;33(3):377-382. doi: 10.1038/s41431-025-01787-z. Epub 2025 Jan 15. PMID: 39815041; PMCID: PMC11894188.?
  7. PREPRINT: The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Valididty of 111 Gene-Disease Relationships (2024). DOI: 10.1101/2024.11.19.24317561 
  8. ?Genomic testing in Low- and Middle-Income Countries (LMIC). (2024) European Journal of Human Genetics. 32:1193-1194.
  9. Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa. (2024). European Journal of Human Genetics?. 32: 1314-1318. ?DOI: 10.1038/s41431-024-01582-2.
  10. Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa?. (2024). European Journal of Human Genetics. 32: 1285-1290. DOI: 10.1038/s41431-023-01509-3??
  11. PREPRINT: Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research (2024). DOI: 10.21203/rs.3.rs-4667068/v1?
  12. PREPRINT: GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases (2024). DOI: 10.21203/rs.3.rs-4438861/v1
  13. PREPRINT: GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders? (2024). DOI: 10.1101/2024.07.18.24308205
  14. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. (2024). Nature Genetics. https://d?oi.org/10.1038/s41588-024-01836-1?
  15. Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome. ?(2024). American Journal of Medical Genetics Part A. 194(2):e63641 DOI: 10.1002/ajmg.a.63641?
  16. PREPRINT: Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome. ?(2024). DOI: 10.1101/2024.02.15.24302695??
  17. Comparison of clinical geneticist and computer visual attention in assessing genetic conditions. (2024). PLoS Genet. 20(2):e1011168. doi: 10.1371/journal.pgen.1011168. 
  18. Genetic screening of South African families with Parkinson’s disease. (2024). South African Medical Journal. 114(2):55-56.??
  19. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functionns of eL13. ?(2023). npj Genomic Medicine, 8(1):39.
  20. 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
  21. 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?
  22. Enamel Renal Syndrome: A case series from sub-Saharan Africa. (2023). Frontiers in Oral Health. 4: 1228760. DOI: 10.3389/froh.2023.1228760
  23. PREPRINT: Human and computer attention in assessing genetic conditions. ?(2023). DOI: 10.1101/2023.07.26.23293119???
  24. 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?
  25. PREPRINT: GestaltMatcher Database - a FAIR Database for medical imaging data of rare disorders. (2023). DOI: 10.1101/2023.06.06.23290887?
  26. 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
  27. ADAR-associated Aicardi Goutières syndro?me in a child with bilateral striatal necrosis and recurrent episodes of transaminitis (2023). BMJ Case Reports, 16: e252436.
  28. Perspectives on the future of dysmorphology. (2022). American Journal of Medical Genetics Part A, In Press. https://doi.org/10.1002/ajmg.a.63060
  29. 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.
  30. ?Undiagnosed Disease Program in South Africa: Results from first 100 exomes. (2022). American Journal of Medical Genetics Part A. 188(9): 2684-2692.  
  31. 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?
  32. 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 ?
  33. GestaltMatcher facilitates rare disease matching using facial phenotypic descriptors?. (2022). Nature Genetics. 54:349-357. https://doi.org/10.1038/s41588-021-01010-x??
  34. 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
  35. 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
  36. ????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??
  37. PREPRINT: GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors?. (2021). https://doi.org/10.1101/2020.12.28.20248193??