Red X iconGreen tick iconYellow tick icon

Contact Details

+64 3 479 7469
Curekids Professor of Paediatric Genetics
Department of Women's and Children's Health (Dunedin)
BMedSc MB ChB(Otago) FRACP DPhil(Oxon)
Research summary
Genetic disorders affecting children, with emphasis on malformations of the skeleton and brain
Convenor GENE 313 Medical Genetics, GENE 360, Second-, Third- and Fifth-Year Medicine, Postgraduate programmes in Clinical Genetics for Health Professionals, Diploma in Paediatrics.
Medical and Scientific Advisory Committee, Curekids; Board Advisor, Curekids; Board Member, New Zealand Organisation for Rare Diseases; Associate Dean (Research) Dunedin School of Medicine; Gene Technology Advisory Committee; Health Research Council of New Zealand
Clinical Geneticist with Genetic Health Services New Zealand


Stephen Robertson has been the Curekids Professor of Paediatric Genetics at Otago University in Dunedin, New Zealand since 2002. He was educated at the Unversity of Otago, graduating in Medicine in 1990. He specialised in Paediatrics and then subspecialised in Clinical Genetics after training in Auckland and Melbourne.

From 1999 – 2002 he held a Nuffield Medical Fellowship at the Institute of Molecular Medicine at Oxford University, studying the genetic basis of a set of genetic disorders characterised by severe life-limiting malformations in children. His work in this area has led to the implication of several genes in the generation of malformations in children, with a particular focus on conditions that affect the skeleton and brain. This work has included the characterisation of the genetic basis of a broad group of disorders affecting the development of the skeleton, the implication of genes in the development of cancers and the genesis of skeletal and brain malformations, and studies that have implicated retinoic acid, a form of vitamin A, in skeletogenesis in humans. His research involves widespread collaborations with scientists and clinicians across the globe. He was awarded the Health Research Council’s Liley Medal for outstanding contributions to medical research in 2010.

Professor Robertson continues to be an active clinician, staffing clinics throught the South and North Islands, in addition to teaching genetics to science and medical students in Dunedin. His work is supported primarily by Curekids, along with the Marsden Fund and the Health Research Council of NZ.

Additional details

Editorial Boards of Human Mutation, American Journal of Medical Genetics, Molecular Syndromology, Clinical Dysmorphology


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 Journal - Research Article

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. Journal - Research Article

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. Journal - Research Article

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 Journal - Research Article

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 Journal - Research Article

Back to top