• Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa 

      Kinnear, Craig; Glanzmann, Brigitte; Banda, Eric; Schlechter, Nikola; Durrheim, Glenda; Neethling, Annika; Nel, Etienne; Schoeman, Mardelle; Johnson, Glynis; van Helden, Paul D; Hoal, Eileen G; Esser, Monika; Urban, Michael; Moller, Marlo (BioMed Central, 2017-03-14)
      Background Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. ...
    • A new tool for prioritization of sequence variants from whole exome sequencing data 

      Glanzmann, Brigitte; Herbst, Hendri; Kinnear, Craig J.; Moller, Marlo; Gamieldien, Junaid; Bardien, Soraya (BioMed Central, 2016-07)
      Background: Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly provide ...