Professor Stephen Robertson
Women's and Children's Health; Clinical Genetics Group; Chair of Child Health Research
Stephen is the Curekids Professor of Paediatric Genetics at the University of Otago in Dunedin. He was educated at the University of Otago graduating in Medicine in 1990. He specialized in Paediatrics and Clinical Genetics after training in Auckland and Melbourne. From 1999 – 2002 Stephen was Nuffield Medical Fellow at Oxford University, studying the genetic determinants of congenital malformations in children. His work has led to the implication of a new family of genes, the filamins, in the generation of these conditions. He remains an active clinical geneticist as well as continuing his research into congenital malformations.
For more information on Stephen: http://dnmeds.otago.ac.nz/departments/womens/paediatrics/research/cgg/profile.html
Teaching
Stephen is the course coordinator and teaches in GENE 313 Medical Genetics. He also teaches in GENE 411 Current Topics in Genetics.
Recent Publications
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Bjorn Fischer, Serene C Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hulya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D O’Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F Nelson, Amira Masri, Fawaz Alkazaleh, Deanna Guerra, Paola Ferrari, Arti Nanda, Anna Rajab, David Markie, Mary Gray, John Nelson, Arthur Grix, Annemarie Sommer, Ravi Savarirayan, Andreas R Janecke, Elisabeth Steichen, David Sillence, Ingrid Hauser, Birgit Budde, Gudrun Nurnberg, Peter Nurnberg, Petra Seemann, Desiree Kunkel, Giovanna Zambruno, Bruno Dallapiccola, Markus Schuelke, Stephen Robertson, Hanan Hamamy, Bernd Wollnik, Lionel Van Maldergem, Stefan Mundlos, & Uwe Kornak. (2009) Mutations in PYCR1 cause cutis laxa with progeroid features Nature Genetics
Bicknell, L.S., Robertson, S. et al. A missense mutation in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. European Journal of Human Genetics 16, 1176-1186 (2008).
Jenkins, Z.A., Robertson, S. et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics 41, 95-100 (2009).
Robertson, S. & Poulton, R. Longitudinal studies to detect gene x environment interactions in common disease - Bang for your buck? A commentary on Chaufan's "How much can a large population study on genes, environments, their interactions and common diseases contribute to the health of the American people?" (65 : 8,1730-1741 (2007)). Social Science & Medicine 67, 666-672 (2008).
van Roij, M.H.H., Robertson, S. et al. Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype. American Journal of Medical Genetics Part A 146A, 2376-2384 (2008).