• Exome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiency 

      Schlechter, Nikola; Glanzmann, Brigitte; Hoal, Eileen Garner; Schoeman, Mardelle; Petersen, Britt-Sabina; Franke, Andre; Lau, Yu-Lung; Urban, Michael; Van Helden, Paul David; Esser, Maria Esser; Moller, Marlo; Kinnear, Craig (Frontiers, 2017-11)
      ENGLISH ABSTRACT: Primary immunodeficiency disorders (PIDs) render patients vulnerable to infection with a wide range of microorganisms and thus provide good in vivo models for the assessment of immune responses during ...
    • 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. ...
    • Implementation of a breast cancer genetic service in South Africa - lessons learned 

      Schoeman, Mardelle; Apffelstaedt, Justus P.; Baatjes, Karin; Urban, Michael (Health & Medical Publishing Group, 2013-06-25)
      Background. Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation of genetic counselling and testing has been challenging. Objective. To describe ...