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

Rare Disease Genomics

​​​​​​​​​​PUBLICATIONS

  1. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functionns of eL13. ​(2023). npj Genomic Medicine. Accepted October 2023.
  2. The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease. (2023). American Journal of Medical Genetics. In Press DOI: 10.1002/ajmg.a.63420
  3. B3GALT6-Linkeropathy: Three illustrative patients spanning the disease spectrum. (2023). European Journal of Medical Gentics. In Press. DOI: 10.1016/j.ejmg.2023.104829​
  4. Enamel Renal Syndrome: A case series from sub-Saharan Africa. (2023). Frontiers in Oral Health. In Press. DOI: 10.3389/froh.2023.1228760
  5. PREPRINT: Human and computer attention in assessing genetic conditions. ​(2023). DOI: 10.1101/2023.07.26.23293119​​​
  6. 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​
  7. PREPRINT: GestaltMatcher Database - a FAIR Database for medical imaging data of rare disorders. (2023). ​
  8. DOI: 
  9. 10.1101/2023.06.06.23290887​
  10. 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/

  11. ADAR-associated Aicardi Goutières syndro​me in a child with bilateral striatal necrosis and recurrent episodes of transaminitis (2023). BMJ Case Reports, 16: e252436.

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

  13. 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.

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

  15. 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​

  16. 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 ​

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

  18. 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

  19. 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

  20. ​​​​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​​

  21. 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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