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Professor Stephen Robertson is the Curekids Professor of Paediatric Genetics. 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.

He heads the Clinical Genetics Group, which studies single gene disorders in children, with a particular emphasis on disorders that affect the development of the skeleton and the brain.

Single gene disorders are typically rare but in aggregate account for a sizeable fraction of morbidity in the community. The era of large-scale DNA sequencing has brought an unprecedented opportunity to define their cause and study their pathogenesis.

Find out more about Professor Stephen Robertson's research.

Publications

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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