Stephen P. Robertson
Department of Paediatrics and Child Health
Dunedin School of Medicine
Otago University
Dunedin
New Zealand
Name/email consistency: high
- Longitudinal studies to detect genexenvironment 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)). Robertson, S., Poulton, R. Soc. Sci. Med (2008)
- Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Robertson, S.P. Eur. J. Hum. Genet. (2007)
- Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Robertson, S.P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A.O., Manouvrier-Hanu, S. Eur. J. Hum. Genet. (2006)
- Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Robertson, S.P., Jenkins, Z.A., Morgan, T., Adès, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Miñaur, S., Grix, A., Green, A., Der Kaloustian, V., Lewkonia, R., McInnes, B., van Haelst, M.M., Mancini, G., Macini, G., Illés, T., Mortier, G., Newbury-Ecob, R., Nicholson, L., Scott, C.I., Ochman, K., Brozek, I., Shears, D.J., Superti-Furga, A., Suri, M., Whiteford, M., Wilkie, A.O., Krakow, D. Am. J. Med. Genet. A (2006)
- Filamin A: phenotypic diversity. Robertson, S.P. Curr. Opin. Genet. Dev. (2005)
- Molecular pathology of filamin A: diverse phenotypes, many functions. Robertson, S.P. Clin. Dysmorphol. (2004)
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Robertson, S.P., Twigg, S.R., Sutherland-Smith, A.J., Biancalana, V., Gorlin, R.J., Horn, D., Kenwrick, S.J., Kim, C.A., Morava, E., Newbury-Ecob, R., Orstavik, K.H., Quarrell, O.W., Schwartz, C.E., Shears, D.J., Suri, M., Kendrick-Jones, J., Wilkie, A.O. Nat. Genet. (2003)
