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Professor Stephen Robertson

Professor Stephen RobertsonBMedSc, MB ChB, FRACP, DPhil

Professor Stephen Robertson is the Cure Kids Chair in Child Health Research at the University of Otago.

Stephen is a medical graduate of Otago. He began his career working in hospitals around Auckland, including two years as chief resident of Starship Children's Hospital. In 1997, he moved to Melbourne to train at the Royal Children's Hospital, before being selected as a Nuffield Medical Fellow at the Institute of Molecular Medicine, Oxford University. During his three-year fellowship, he completed his PhD, studying the genetic determinants of congenital malformations in children. The work resulted in the publication of two papers in Nature Genetics.

Stephen returned to Otago in 2002, to take up the Cure Kids' Chair. His laboratory studies gene function as it relates to the causes of structural abnormalities in children.

He continues to practice as a clinical geneticist and has an additional research interest in the ethical considerations of the clinical application of genetic knowledge.


Jenkins, Z. A., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., … Robertson, S. P. (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. doi: 10.1038/ng.270

Krakow, D., Robertson, S. P., King, L. M., Morgan, T., & et al (2004). Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics, 36(4), 405-410.

Robertson, S., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., … The OPD-spectrum Disorders Cli Collaborative Group Group, & Wilkie, A. O. M. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33, 487-489.

Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., … Morgan, T., Gray, M. J., … Robertson, S. P. (2011). Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. American Journal of Human Genetics, 89(5), 595-606. doi: 10.1016/j.ajhg.2011.09.015

Simpson, M. A., Irving, M. D., Asilmaz, E., Gray, M. J., Dafou, D., Elmslie, F. V., … Robertson, S. P., … Trembath, R. C. (2011). Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nature Genetics, 43(4), 303-305. doi: 10.1038/ng.779

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