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

Rare Disease Genomics


  1. ​​​​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​​

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

  3. ​​Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients​. (2020). ​​American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.a.61797