Edinburgh Research Explorer

Kathy Williamson

Research Fellow

  1. 2013
  2. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

    Gerth-Kahlert, C., Williamson, K., Ansari, M., Rainger, J. K., Hingst, V., Zimmermann, T., Tech, S., Guthoff, R. F., van Heyningen, V. & Fitzpatrick, D. R., 1 May 2013, In: Molecular Genetics & Genomic Medicine. 1, 1, p. 15-31 17 p.

    Research output: Contribution to journalArticlepeer-review

  3. 2009
  4. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

    Henderson, R. H., Williamson, K. A., Kennedy, J. S., Webster, A. R., Holder, G. E., Robson, A. G., FitzPatrick, D. R., van Heyningen, V. & Moore, A. T., Nov 2009, In: Molecular Vision. 15, 260, p. 2442-7 6 p.

    Research output: Contribution to journalArticlepeer-review

  5. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations

    Hingorani, M., Williamson, K. A., Moore, A. T. & van Heyningen, V., Jun 2009, In: Investigative Ophthalmology & Visual Science. 50, 6, p. 2581-90 10 p.

    Research output: Contribution to journalArticlepeer-review

  6. Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations

    Schmidt-Sidor, B., Szymańska, K., Williamson, K., van Heyningen, V., Roszkowski, T., Wierzba-Bobrowicz, T. & Zaremba, J., 2009, In: Folia Neuropathologica. 47, 4, p. 372-82 11 p.

    Research output: Contribution to journalArticlepeer-review

  7. 2008
  8. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

    Robinson, D. O., Howarth, R. J., Williamson, K. A., van Heyningen, V., Beal, S. J. & Crolla, J. A., Mar 2008, In: American Journal of Medical Genetics Part A. 146A, 5, p. 558-69 12 p.

    Research output: Contribution to journalArticlepeer-review

  9. 2007
  10. De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease

    Brinckmann, A., Rüther, K., Williamson, K., Lorenz, B., Lucke, B., Nürnberg, P., Trijbels, F., Janssen, A. & Schuelke, M., Feb 2007, In: Journal of Molecular Medicine. 85, 2, p. 163-8 6 p.

    Research output: Contribution to journalArticlepeer-review

  11. Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

    Bamiou, D-E., Free, S. L., Sisodiya, S. M., Chong, W. K., Musiek, F., Williamson, K. A., van Heyningen, V., Moore, A. T., Gadian, D. & Luxon, L. M., 2007, In: Archives of pediatrics & adolescent medicine. 161, 5, p. 463-9 7 p.

    Research output: Contribution to journalArticlepeer-review

  12. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

    Henderson, R. A., Williamson, K., Cumming, S., Clarke, M. P., Lynch, S. A., Hanson, I. M., FitzPatrick, D. R., Sisodiya, S. & van Heyningen, V., 2007, In: European Journal of Human Genetics. 15, 8, p. 898-901 4 p.

    Research output: Contribution to journalArticlepeer-review

  13. PAX6 mutations may be associated with high myopia

    Hewitt, A. W., Kearns, L. S., Jamieson, R. V., Williamson, K. A., van Heyningen, V. & Mackey, D. A., 2007, In: Ophthalmic genetics. 28, 3, p. 179-82 4 p.

    Research output: Contribution to journalArticlepeer-review

  14. 2006
  15. Erratum: Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome (Human Molecular Genetics (2006) vol. 15 (1413-1422) (doi:10.1093/hmg/dd1064)

    Williamson, K. A., Hever, A. M., Rainger, J., Rogers, R. C., Magee, A., Fiedler, Z., Keng, W. T., Sharkey, F. H., McGill, N., Hill, C. J., Schneider, A., Messina, M., Turnpenny, P. D., Fantes, J. A., van Heyningen, V. & FitzPatrick, D. R., 15 Jun 2006, In: Human Molecular Genetics. 15, 12, 1 p.

    Research output: Contribution to journalComment/debatepeer-review