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DSM staff profile

Professor Stephen Robertson

PositionCurekids Professor of Paediatric Genetics
QualificationsBMedSc MB ChB(Otago) FRACP DPhil(Oxon)
Research summaryGenetic disorders affecting children, with emphasis on malformations of the skeleton and brain
TeachingConvenor GENE 313 Medical Genetics, GENE 360, Second-, Third- and Fifth-Year Medicine, Postgraduate programmes in Clinical Genetics for Health Professionals, Diploma in Paediatrics.
MembershipsMedical 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
ClinicalClinical Geneticist with Genetic Health Services New Zealand

Research

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

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., 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

Journal - Research Article

Daniel, P. B., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T.-J., Cole, T., … Robertson, S. P. (2012). Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Human Mutation, 33(4), 665-673. doi: 10.1002/humu.22012

Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazova, E. A., Addor, M.-C., … Robertson, S. P., … Brown, M. A. (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90(3), 494-501. doi: 10.1016/j.ajhg.2012.01.003

van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., … Robertson, S. P., … Hoischen, A. (2012). Cantú Syndrome Is caused by mutations in ABCC9. American Journal of Human Genetics, 90(6), 1094-1101. doi: 10.1016/j.ajhg.2012.04.014

Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., … Robertson, S. P., … Lee, B. H. (2012). Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome. American Journal of Human Genetics, 90(2), 282-289. doi: 10.1016/j.ajhg.2011.11.023

Mansour, S., Swinkels, M., Terhal, P. A., Wilson, L. C., Rich, P., Van Maldergem, L., … Robertson, S. P., Newbury-Ecob, R. (2012). Van Maldergem syndrome: Further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. European Journal of Human Genetics, 20, 1024-1031. doi: 10.1038/ejhg.2012.57

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

Gay, O., Gilquin, B., Nakamura, F., Jenkins, Z. A., McCartney, R., Krakow, D., … Robertson, S. P., Baudier, J. (2011). RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape. PNAS, 108(28), 11464-11469. doi: 10.1073/pnas.1104211108

Skidmore, D. L., Chitayat, D., Morgan, T., Hinek, A., Fischer, B., Dimopoulou, A., … Robertson, S. P. (2011). Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS). American Journal of Medical Genetics Part A, 155(8), 1848-1856. doi: 10.1002/ajmg.a.34057

Holman, S. K., Daniel, P., Jenkins, Z. A., Herron, R. L., Morgan, T., Savarirayan, R., … Robertson, S. P. (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics Part A, 155(10), 2397-2408. doi: 10.1002/ajmg.a.34178

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

van Kogelenberg, M., Lerone, M., De Toni, T., Divizia, M. T., de Brouwer, A. P. M., Veltman, J. A., … Robertson, S. P. (2011). A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. American Journal of Medical Genetics Part A, 155(12), 3144-3147. doi: 10.1002/ajmg.a.34311

Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., … Breuning, M. H. (2010). Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. American Journal of Human Genetics, 87(1), 146-153. doi: 10.1016/j.ajhg.2010.06.008

Fukuzawa, R., Holman, S. K., Chow, C. W., Savarirayan, R., Reeve, A. E., & Robertson, S. P. (2010). WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. Journal of Medical Genetics, 47, 791-794. doi: 10.1136/jmg.2010.080663

Kapur, R. P., Robertson, S. P., Hannibal, M. C., Finn, L. S., Morgan, T., van Kogelenberg, M., & Loren, D. J. (2010). Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and X-linked intestinal pseudo-obstruction. American Journal of Surgical Pathology, 34(10), 1528-1543. doi: 10.1097/PAS.0b013e3181f0ae47

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

Huber, C., Oulès, B., Bertoli, M., Chami, M., Fradin, M., Alanay, Y., … Robertson, S. P., … Cormier-Daire, V. (2009). Identification of CANT1 mutations in Desbuquois dysplasia. American Journal of Human Genetics, 85(5), 706-710. doi: 10.1016/j.ajhg.2009.10.001

Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., … Markie, D., Gray, M., … Robertson, S., … Kornak, U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41(9), 1016-1021. doi: 10.1038/ng.413

Clark, A. R., Sawyer, G. M., Robertson, S. P., & Sutherland-Smith, A. J. (2009). Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Human Molecular Genetics, 18(24), 4791-4800. doi: 10.1093/hmg/ddp442

Sawyer, G. M., Clark, A. R., Robertson, S. P., & Sutherland-Smith, A. J. (2009). Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. Journal of Molecular Biology, 390(5), 1030-1047. doi: 10.1016/j.jmb.2009.06.009

Bicknell, L. S., Pitt, J., Aftimos, S., Ramadas, R., Maw, M. A., & Robertson, S. P. (2008). A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. European Journal of Human Genetics, 16, 1176-1186. doi: 10.1038/ejhg.2008.91

Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., … Robertson, S. P. (2007). A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of Medical Genetics, 44, 89-98.

Robertson, S. P. (2005). Filamin A: Phenotypic diversity. Current Opinion in Genetics & Development, 15, 301-307.

Twigg, S. R. F., Kan, R., Babbs, C., Bochukova, E. G., Robertson, S. P., Wall, S. A., … Wilkie, A. O. M. (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. PNAS, 101(23), 8652-8657.

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., 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.

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