Division of Molecular B?iology and Human Genetics
Rare Disease Genomics
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- 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?
- Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome. ?(2024). American Journal of Medical Genetics Part A. Accepted April 2024.??
- 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.?
- PREPRINT: Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome. ?(2024). DOI: 10.1101/2024.02.15.24302695??
- Comparison of clinical geneticist and computer visual attention in assessing genetic conditions. (2024). PLoS Genet. 20(2):e1011168. doi: 10.1371/journal.pgen.1011168.
- Genetic screening of South African families with Parkinson’s disease. (2024). South African Medical Journal. 114(2):55-56.??
- Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa?. (2023). European Journal of Human Genetics. Accepted December 2023.
- Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functionns of eL13. ?(2023). npj Genomic Medicine, 8(1):39.
- 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
- 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?
- Enamel Renal Syndrome: A case series from sub-Saharan Africa. (2023). Frontiers in Oral Health. 4: 1228760. DOI: 10.3389/froh.2023.1228760
- PREPRINT: Human and computer attention in assessing genetic conditions. ?(2023). DOI: 10.1101/2023.07.26.23293119???
- 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?
- PREPRINT: GestaltMatcher Database - a FAIR Database for medical imaging data of rare disorders. (2023).
- DOI:
- 10.1101/2023.06.06.23290887?
- 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
Perspectives on the future of dysmorphology. (2022). American Journal of Medical Genetics Part A, In Press. https://doi.org/10.1002/ajmg.a.63060
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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
????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??
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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