Edinburgh Research Explorer

Kathy Williamson

Research Fellow

  1. 2003
  2. Polymicrogyria and absence of pineal gland due to PAX6 mutation

    Mitchell, T. N., Free, S. L., Williamson, K. A., Stevens, J. M., Churchill, A. J., Hanson, I. M., Shorvon, S. D., Moore, A. T., van Heyningen, V. & Sisodiya, S. M., May 2003, In: Annals of Neurology. 53, 5, p. 658-63 6 p.

    Research output: Contribution to journalArticlepeer-review

  3. Identification of SATB2 as the cleft palate gene on 2q32-q33

    FitzPatrick, D. R., Carr, I. M., McLaren, L., Leek, J. P., Wightman, P., Williamson, K., Gautier, P., McGill, N., Hayward, C., Firth, H., Markham, A. F., Fantes, J. A. & Bonthron, D. T., 2003, In: Human Molecular Genetics. 12, 19, p. 2491-501 11 p.

    Research output: Contribution to journalArticlepeer-review

  4. Mutations in SOX2 cause anophthalmia

    Fantes, J., Ragge, N. K., Lynch, S-A., McGill, N. I., Collin, J. R. O., Howard-Peebles, P. N., Hayward, C., Vivian, A. J., Williamson, K., van Heyningen, V. & FitzPatrick, D. R., 2003, In: Nature Genetics. 33, 4, p. 461-3 3 p.

    Research output: Contribution to journalArticlepeer-review

  5. 2002
  6. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

    Morrison, D., FitzPatrick, D., Hanson, I., Williamson, K., van Heyningen, V., Fleck, B., Jones, I., Chalmers, J. & Campbell, H., Jan 2002, In: Journal of Medical Genetics. 39, 1, p. 16-22 7 p.

    Research output: Contribution to journalArticlepeer-review

  7. PAX6 in sensory development

    van Heyningen, V. & Williamson, K. A., 2002, In: Human Molecular Genetics. 11, 10, p. 1161-7 7 p.

    Research output: Contribution to journalArticlepeer-review

  8. 2001
  9. PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

    Malandrini, A., Mari, F., Palmeri, S., Gambelli, S., Berti, G., Bruttini, M., Bardelli, A. M., Williamson, K., van Heyningen, V. & Renieri, A., Aug 2001, In: Clinical genetics. 60, 2, p. 151-4 4 p.

    Research output: Contribution to journalArticlepeer-review

  10. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

    Sisodiya, S. M., Free, S. L., Williamson, K. A., Mitchell, T. N., Willis, C., Stevens, J. M., Kendall, B. E., Shorvon, S. D., Hanson, I. M., Moore, A. T. & van Heyningen, V., Jul 2001, In: Nature Genetics. 28, 3, p. 214-6 3 p.

    Research output: Contribution to journalArticlepeer-review

  11. 2000
  12. Hemolytic uremic syndrome associated with Denys-Drash syndrome

    Sherbotie, J. R., van Heyningen, V., Axton, R., Williamson, K., Finn, L. S. & Kaplan, B. S., Oct 2000, In: Pediatric Nephrology. 14, 12, p. 1092-7 6 p.

    Research output: Contribution to journalArticlepeer-review

  13. 1998
  14. The gene for the cyclin-dependent-kinase-4 inhibitor, CDKN2A, is preferentially deleted in malignant mesothelioma

    Prins, J. B., Williamson, K. A., Kamp, M. M., Van Hezik, E. J., Van der Kwast, T. H., Hagemeijer, A. & Versnel, M. A., 9 Feb 1998, In: International Journal of Cancer. 75, 4, p. 649-53 5 p.

    Research output: Contribution to journalArticlepeer-review

  15. Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour

    Miyagawa, K., Kent, J., Moore, A., Charlieu, J. P., Little, M. H., Williamson, K. A., Kelsey, A., Brown, K. W., Hassam, S., Briner, J., Hayashi, Y., Hirai, H., Yazaki, Y., van Heyningen, V. & Hastie, N. D., Jan 1998, In: Nature Genetics. 18, 1, p. 15-17 3 p.

    Research output: Contribution to journalArticlepeer-review