Edinburgh Research Explorer

Dr Kathy Williamson

Research Fellow

  1. 2020
  2. Insight into the Ontogeny of GnRH Neurons from Patients Born Without a Nose

    Delaney, A., Volochayev, R., Meader, B., Lee, J., Almpani, K., Noukelak, G. Y., Henkind, J., Chalmers, L., Law, J. R., Williamson, K. A., Jacobsen, C. M., Buitrago, T. P., Perez, O., Cho, C-H., Kaindl, A., Rauch, A., Steindl, K., Garcia, J. E., Russell, B. E., Prasad, R. & 26 others, Mondal, U. K., Reigstad, H. M., Clements, S., Kim, S., Inoue, K., Arora, G., Salnikov, K. B., DiOrio, N. P., Prada, R., Capri, Y., Morioka, K., Mizota, M., Zechi-Ceide, R. M., Kokitsu-Nakata, N. M., Tonello, C., Vendramini-Pittoli, S., da Silva Dalben, G., Balasubramanian, R., Dwyer, A. A., Seminara, S. B., Crowley, W. F., Plummer, L., Hall, J. E., Graham, J. M., Lin, A. E. & Shaw, N. D., 8 Feb 2020, In : Journal of Clinical Endocrinology & Metabolism.

    Research output: Contribution to journalArticle

  3. 2019
  4. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

    Williamson, K., Hall, H. N., Owen, L., Livesey, B., Hanson, I., Adams, G. G. W., Bodek, S., Calvas, P., Castle, B., Clarke, M., Deng, A. T., Edery, P., Fisher, R., Gillessen-Kaesbach, G., Héon, E., Hurst, J., Josifova, D., Lorenz, B., McKee, S., Meire, F. & 11 others, Moore, A. T., Parker, M., Reiff, C., Self, J., Tobias, E. S., Verheij, J. B. G. M., Willems, M., Williams, D., Van Heyningen, V., Marsh, J. A. & FitzPatrick, D. R., 8 Nov 2019, In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  5. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Deciphering Developmental Disorders Study, UK10K Consortium & NIHR BioResource, 11 Apr 2019, In : American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journalArticle

  6. NAA10 polyadenylation signal variants cause syndromic microphthalmia

    Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabir, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schäffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. & Biesecker, L. G., 6 Mar 2019, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  7. 2018
  8. Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

    De Silva, D., Williamson, K. A., Dayasiri, K. C., Suraweera, N., Quinters, V., Abeysekara, H., Wanigasinghe, J., De Silva, D. & De Silva, H., 24 Sep 2018, In : BMC Pediatrics. 18, 1, p. 308

    Research output: Contribution to journalReview article

  9. The genetic architecture of aniridia and Gillespie syndrome

    Hall, H. N., Williamson, K. A. & Fitzpatrick, D. R., 22 Sep 2018, In : Human Genetics.

    Research output: Contribution to journalReview article

  10. 2017
  11. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

    Rainger, J., Williamson, K., Soares, D., Truch, J., Thekkedath Kurian, D., Gillessen-Kaesbach, G., Seawright, A., Prendergast, J., Halachev, M., Wheeler, A., McTeir, L., Gill, A., Van Heyningen, V., Davey, M., UK10K & FitzPatrick, D. R., Aug 2017, In : Human Mutation. 38, 8, p. 942-946

    Research output: Contribution to journalArticle

  12. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    Shaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B. B., Dunican, D. S., Collins, R. L., Willer, J. R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T. & 58 others, Lucente, D., Silva, A., Seabra, C. M., Chiang, C., An, Y., Ansari, M., Rainger, J. K., Joss, S., Smith, J. C., Lippincott, M. F., Singh, S. S., Patel, N., Jing, J. W., Law, J. R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L. A., Brasseur, B., Cesaretti, C., García-Ortiz, J. E., Buitrago, T. P., Silva, O. P., Hoffman, J. D., Mühlbauer, W., Ruprecht, K. W., Loeys, B. L., Shino, M., Kaindl, A. M., Cho, C-H., Morton, C. C., Meehan, R. R., van Heyningen, V., Liao, E. C., Balasubramanian, R., Hall, J. E., Seminara, S. B., Macarthur, D., Moore, S. A., Yoshiura, K-I., Gusella, J. F., Marsh, J. A., Graham, J. M., Lin, A. E., Katsanis, N., Jones, P. L., Crowley, W. F., Davis, E. E., FitzPatrick, D. R. & Talkowski, M. E., Feb 2017, In : Nature Genetics. 49

    Research output: Contribution to journalArticle

  13. 2016
  14. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

    Gorman, K. M., Lynch, S. A., Schneider, A., Grange, D. K., Williamson, K. A., FitzPatrick, D. R. & King, M. D., Nov 2016, In : American Journal of Medical Genetics Part A. 170, 11

    Research output: Contribution to journalLetter

  15. PAX6, Aniridia, and Related Phenotypes*

    Van Heyningen, V. & Williamson, K., Jun 2016, 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

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