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Publications

Find below a list of Publications in date order:

2008

  • Gabbett M.T., Robertson S.P., Broadbent R., Aftimos S., Sachdev R., Nezarati M.M. (2008) Characterizing the  oculoauriculofrontonasal syndrome. Clinical Dysmorphology 17:79-85.
  • Robertson S.P., Poulton R.P. (2008) Longitudinal studies to detect gene X environment interactions in common disease – Bang for your Buck? Soc Sci Med 67(4):666-72.
  • Bicknell L.S., Pitt J., Aftimos S., Ramadas R., Maw M.A., Robertson S.P. (2008) A missense mutation in ALDH18A1, encoding D1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet 16(10):1176-86.
  • van Roij M.H.H.,  Mizumoto S., Yamada S., Morgan T., Tan-Sindhunata M.B., . Meijers-Heijboer H., Verbeke J.I., Markie D., Sugahara K., Robertson S.P. (2008) Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Amer J Med Genet 146A(18):2376-84.
  • Lyons M.J., Graham J.M. Jr, Neri G., Hunter A.G., Clark R.D., Rogers R.C., Moscarda M., Boccuto L., Simensen R., Dodd J., Robertson S., Dupont B.R., Friez M.J., Schwartz C.E., Stevenson R.E. (2008). Clinical Experience in the Evaluation of 30 Patients with a Prior Diagnosis of FG Syndrome. J Med Genet. in press.
  • Jenkins Z.A., van Kogelenberg M., Morgan T., Jeffs A., Fukuzawa R., Pearl E., Thaller C., Hing A.V., Porteous M.E., Garcia-Miñaur S., Bohring A., Lacombe D., Stewart F., Fiskerstrand T., Bindoff L., Berland S., Adès L.C., Tchan M., David A., Wilson L.C., Hennekam R.C.M., Donnai D., Mansour S., Cormier-Daire V., Robertson S.P. (2008) Germline mutations in the tumor suppressor WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics. in press.
  • Robertson S.P., Poulton R. (2008) Longitudinal studies of gene-environment interaction in common diseases--good value for money? Novartis Found Symp. 2008;293:128-37; discussion 138-42, 181-3.

2007

  • Marino-Enriquez, A., Lapunzina, P., Robertson, S.P., Rodriguez, J.I., (2007). Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings. American Journal of Medical Genetics. 143A:1120-1125.
  • Kerruish, N.J., Campbell-Stokes, P.L., Gray, A., Merriman, T.R., Robertson. S..P, Taylor, B.J. (2007). Maternal Psychosocial Reactions to Newborn Genetic Screening for Type 1 Diabetes. Pediatrics  2007 Aug;120(2):e324-35.
  • Albano LMJ, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA (2007) Phenotypic overlap in Melnick Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular studyin in three patients. Clinical Dysmorphology 16(1):27-33.
  • Robertson, S. P. (2007). The otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. European Journal of Human Genetics 15(1):3-9.

2006

  • Tang, J., Robertson, S.P., Lem, K.E., Godwin, S.C., Kaler, S.G., (2006). Residual copper transport in the occipital horn syndrome. Genet Med 8:711-8.
  • Bicknell, L.S., Farrington-Rock, C.,Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., Al-Madani, N., Firth, H., Hassan Karimi-Nejad, M.,Kim, C.A., Leask, K., Maisenbacher, M., Moran, E., Pappas, J.G., Prontera, P., de Ravel, T., Fryns, J..P, Sweeney, E., Fryer, A., Unger, S., Wilson, L.C., Lachman, R.S., Rimoin, D.L., Cohn, D.H., Krakow, D.K.,  Robertson, S.P. (2006), A Molecular and Clinical Study of Larsen Syndrome Caused By Mutations in FLNB. Journal of Medical Genetics. 44;89-98.
  • Colombani, M.,  Laurent, N., Le Merrer, M., Delezoide, A.-L., Thauvin-Robinet, C., Huet, F., Sagot, P., Rousseau, T., Robertson, S.P., Faivre, L. (2006), A new osteochondrodysplasia phenotype reminiscent of the filamin-related disorders. Prenatal Diagnosis 26(12):1151-5.
  • Robertson, S.P., Jenkins, Z.A., Morgan, T., Adès, L.A., Aftimos, S.,  Boute, O., Fiskerstrand, T., Garcia-Minãur, S., Grix, A., Green, A., Der Kaloustian, V., Lewkonia, R., McInnes, B., van Haelst, M.M., Macini, M., Illés, T.,Mortier, G., Newbury-Ecob, G.,  Nicholson, L., Scott, C.I., Ochman, K., Bro?ek, I., Shears, D.J., Superti-Furga, A.,  Suri, M., Whiteford, M., Wilkie, A.O.M., Krakow, D. (2006). Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. American Journal of Medical Genetics. 140(16):1726-36.
  • Adès, L.C., Sullivan, K., Biggin, A., Haan, E.A., Brett, M., Holman, K.J., Dixon, J.W., Robertson, S.P., Holmes, A.D., Roger, J.G., Bennetts, B. (2006). FBN1, TGFBR1 and the Marfan-craniosynostosis/mental retardation disorders revisited.  American Journal of Medical Genetics. 140A: 1047-1058.
  • Farrington-Rock, C., Firestein, M. H., Bicknell, L., Superti-Furga, A., Bacino, C.A., Cormier-Daire, V., Le Merrer, M., Baumann, C., Roume, J., Rump, P., Verheij, J.B.G., Sweeney, E., Rimoin, D.L., Lachman, R.S., Robertson, S.P., Cohn, D.H., Krakow, D. (2006). Mutations in Two Regions of FLNB Result in the Atelosteogenesis I and III.  Human Mutation 27:705-710.
  • Robertson, S. P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A. O. M., & Manouvrier-Hanu, S. (2006). Post-zygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. European Journal of Human Genetics, 14, 549-554.

2005

  • Robertson, S. P. (2005). Advances in molecular diagnosis for the paediatrician. Middle East Pediatrics 10:38-41.
  • Bicknell, L. S., Morgan, T., Bonafé, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., & Robertson, S. P. (2005). Mutations in FLNB cause boomerang dysplasia. Journal of Medical Genetics, 42(7). http://jmg.bmjjournals.com/cgi/content/full/42/7/e43
  • Kerruish, N. J., & Robertson, S. P. (2005). Newborn screening: New developments, new dilemmas. Journal of Medical Ethics, 31, 393-398.
  • Robertson, S. P. (2005). Filamin A: Phenotypic diversity. Current Opinion in Genetics and Development, 15, 301-307.
  • Schader, I., Robertson, S., Maoate, K., & Beasley, S. (2005). Hereditary thyroglossal duct cysts. Pediatric Surgery International, 21(7), 593-594.
  • Sheen, V. L., Jansen, A., Chen, M. H., Parrini, E., Morgan, T., ..., Robertson, S., et al. (2005). Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology, 64, 254-262.
  • Verloes, A., Garel, C., Robertson, S., Le Merrer, M., & Baumann, C. (2005). Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome? American Journal of Medical Genetics, 137A(2), 199-203.

2004

  • 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. P. (2004). Molecular pathology of filamin A: Diverse phenotypes, many functions. Clinical Dysmorphology, 13(3), 123-131.
  • Twigg, S. R. F., Kan, R., Babbs, C., Bochukova, E. G., Robertson, S. P., Wall, S. A., Morriss-Kay, G. M., & Wilkie, A. O. M. (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proceedings of the National Academy of Sciences USA, 101(23), 8652-8657.

2003

  • Hyland, V. J., Robertson, S., Flanagan, S., Savarirayan, R., Roscioli, T., Masel, J., Hayes, M., & Glass, I. A. (2003). Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. American Journal of Medical Genetics, 120A, 157-168.
  • Mäkitie, O., Savarirayan, R., Bonafé, L., Robertson, S., Susic, M., Superti-Furga, A., & Cole, W. G. (2003). Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign. American Journal of Medical Genetics, 122A, 187-192.
  • Robertson, S., Twigg, S. R. F., 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. J., Schwartz, C. E., Shears, D. J., Suri, M., Kendrick-Jones, J., The OPD-spectrum Disorders Clinical Collaborative 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.
  • Savarirayan, R., Robertson, S., Bankier, A., & Rogers, J. G. (2003). Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Pediatric Pathology and Molecular Medicine, 22(1), 37-46.

2002

  • Downey, L. M., Keen, T. J., Jalili, I. K., McHale, J., Aldred, M. J., Robertson, S. P., et al. (2002). Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. European Journal of Human Genetics, 10, 865-869.

2001

  • Gedeon, A. K., ..., Robertson, S., et al. (2001). The molecular basis of spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics, 68, 1386-1397.
  • Kennerson, M. L., Zhu, D., Gardner, R. J. M., Storey, E., Merory, J., Robertson, S., & Nicholson, G. A. (2001). Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics, 69, 883-888.
  • Robertson, S., & Savulescu, J. (2001). Is there a case in favour of predictive genetic testing in young children? Bioethics, 15(1), 26-49.
  • Robertson, S., Shears, D. J., Oei, P., Winter, R. M., Scambler, P. J., Aftimos, S., & Savarirayan, R. (2001). Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. Journal of Medical Genetics, 37(12), 959-964.
  • Robertson, S., Walsh, S., Oldridge, M., Gunn, T., Becroft, D. M. O., & Wilkie, A. O. M. (2001). Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1. American Journal of Human Genetics, 69, 223-227.

2000

  • Nakano, A., Murrell, K. D., Rico, J., Lucky, A. W., Garzon, M., Stevens, C. A., Robertson, S., Pulkkinen, L., Pfender, E., & Uitto, J. (2000). Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the B4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatric Research, 49, 618-626.
  • Robertson, S. P., Gattas, M., Rogers, M., & Ades, L. C. (2000). Macrocephaly Cutis marmorata telangiectatica congenita. Report of five cases and review of the literature. Clinical Dysmorphology, 9, 1-9.
  • Robertson, S. P., Rodda, C., & Bankier, A. (2000). Hypogonadotrophic hypogonadism in Roifman syndrome. Clinical Genetics, 57, 435-438.

1999

  • Robertson, S. (1999). [Reply to letter to the editor Radiographic documentation does not permit the diagnosis of MNS]. American Journal of Medical Genetics.
  • Robertson, S., & Bankier, A. (1999). Oromandibular limb hypogenesis syndrome: A severe adult phenotype. American Journal of Medical Genetics, 83, 427-429.
  • Robertson, S., & Bankier, A. (1999). Sotos syndrome and cutis laxa. Journal of Medical Genetics, 36, 51-56.
  • Robertson, S., Kirk, E., Bernier, F., Turner, A., & Bankier, A. (1999). Congenital hypertrichosis, osteochondrodysplasia and cardiomegaly: Cantu syndrome. American Journal of Medical Genetics, 85, 395-402.
  • Robertson, S., Savarirayan, R., & Rogers, J. (1999). A dominant osteodyplastic disorder with severe cervical involvement. American Journal of Medical Genetics, 83, 17-22.
  • Williamson, R., & Robertson, S. (1999). The new genetics, common diseases and public health. Australian Family Physician, 28(10), 995-999.

1998

  • Robertson, S. (1998). The ethics of human cloning [Commentary]. Journal of Medical Ethics, 24, 282.
  • Robertson, S., Klug, G. L., & Rogers, J. G. (1998). Cerebrospinal fluid shunts in San Filoppo syndrome (MPSIII). European Journal of Paediatrics, 157, 653-655.
  • Robertson, S., & Simmons, D. (1998). Determinants of infant adiposity in ethnic groups with a high prevalence of NIDDM: A prospective study. Diabetes Research and Clinical Practice, 40, 137-143.

1997

  • Robertson, S., Gunn, T., Allen, B., Chapman, C., & Becroft, D. M. O. (1997). Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a 4-generation kindred. American Journal of Medical Genetics, 71, 341-347.
  • Robertson, S., Lipp, H., & Bankier, A. (1997). Zimmerman Laband syndrome in an adult. Long term follow up of a patient with vascular and cardiac complications. American Journal of Medical Genetics, 78(2), 160-164.
  • Robertson, S., O'Day, K., & Bankier, A. (1997). The 4q-syndrome: Further delineation of the minimal critical region. Clinical Genetics, 53, 70-73.
  • Robertson, S., Tsang, B., & Aftimos, S. (1997). Cerebral infarction in Noonan syndrome. American Journal of Medical Genetics, 71, 111-114.
  • Simmons, D., & Robertson, S. (1997). Influence of maternal insulin treatment on the infants of women with gestational diabetes. Diabetic Medicine, 14, 762-765.

 

 
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