Edinburgh Research Explorer

Kathy Williamson

Research Fellow

  1. 2006
  2. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

    Hever, A. M., Williamson, K. A. & van Heyningen, V., Jun 2006, In: Clinical genetics. 69, 6, p. 459-70 12 p.

    Research output: Contribution to journalArticlepeer-review

  3. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

    Faivre, L., Williamson, K. A., Faber, V., Laurent, N., Grimaldi, M., Thauvin-Robinet, C., Durand, C., Mugneret, F., Gouyon, J-B., Bron, A., Huet, F., Hayward, C., Heyningen, V. V. & Fitzpatrick, D. R., 15 Mar 2006, In: American Journal of Medical Genetics Part A. 140, 6, p. 636-9 4 p.

    Research output: Contribution to journalArticlepeer-review

  4. Role of SOX2 mutations in human hippocampal malformations and epilepsy

    Sisodiya, S. M., Ragge, N. K., Cavalleri, G. L., Hever, A., Lorenz, B., Schneider, A., Williamson, K. A., Stevens, J. M., Free, S. L., Thompson, P. J., van Heyningen, V. & Fitzpatrick, D. R., Mar 2006, In: Epilepsia. 47, 3, p. 534-42 9 p.

    Research output: Contribution to journalArticlepeer-review

  5. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

    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., 2006, In: Human Molecular Genetics. 15, 9, p. 1413-22 10 p.

    Research output: Contribution to journalArticlepeer-review

  6. 2005
  7. Heterozygous mutations of OTX2 cause severe ocular malformations

    Ragge, N. K., Brown, A. G., Poloschek, C. M., Lorenz, B., Henderson, R. A., Clarke, M. P., Russell-Eggitt, I., Fielder, A., Gerrelli, D., Martinez-Barbera, J. P., Ruddle, P., Hurst, J., Collin, J. R. O., Salt, A., Cooper, S. T., Thompson, P. J., Sisodiya, S. M., Williamson, K. A., Fitzpatrick, D. R., van Heyningen, V. & 1 others, Hanson, I. M., Jun 2005, In: American Journal of Human Genetics. 76, 6, p. 1008-22 15 p.

    Research output: Contribution to journalArticlepeer-review

  8. SOX2 anophthalmia syndrome

    Ragge, N. K., Lorenz, B., Schneider, A., Bushby, K., de Sanctis, L., de Sanctis, U., Salt, A., Collin, J. R. O., Vivian, A. J., Free, S. L., Thompson, P., Williamson, K. A., Sisodiya, S. M., van Heyningen, V. & Fitzpatrick, D. R., 15 May 2005, In: American Journal of Medical Genetics Part A. 135, 1, p. 1-7; discussion 8

    Research output: Contribution to journalArticlepeer-review

  9. 2004
  10. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma

    Aijaz, S., Clark, B. J., Williamson, K., van Heyningen, V., Morrison, D., Fitzpatrick, D., Collin, R., Ragge, N., Christoforou, A., Brown, A. & Hanson, I., Nov 2004, In: Investigative Ophthalmology & Visual Science. 45, 11, p. 3871-6 6 p.

    Research output: Contribution to journalArticlepeer-review

  11. PAX6, Aniridia, and Related Phenotypes*

    Van Heyningen, V. & Williamson, K., Jun 2004, Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. Erickson, R. P. & Wynshaw-Boris, A. J. (eds.). Oxford University Press, p. 785-790

    Research output: Chapter in Book/Report/Conference proceedingChapter

  12. Cognitive functioning in humans with mutations of the PAX6 gene

    Thompson, P. J., Mitchell, T. N., Free, S. L., Williamson, K. A., Hanson, I. M., van Heyningen, V., Moore, A. T. & Sisodiya, S. M., 13 Apr 2004, In: Neurology. 62, 7, p. 1216-8 3 p.

    Research output: Contribution to journalArticlepeer-review

  13. 2003
  14. Quantitative MR image analysis in subjects with defects in the PAX6 gene

    Free, S. L., Mitchell, T. N., Williamson, K. A., Churchill, A. J., Shorvon, S. D., Moore, A. T., van Heyningen, V. & Sisodiya, S. M., Dec 2003, In: NeuroImage. 20, 4, p. 2281-90 10 p.

    Research output: Contribution to journalArticlepeer-review