Edinburgh Research Explorer

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., 1 May 2020, In: Journal of Clinical Endocrinology & Metabolism.

    Research output: Contribution to journalArticlepeer-review

  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 journalArticlepeer-review

  5. The genetic architecture of aniridia and Gillespie syndrome

    Hall, H. N., Williamson, K. A. & Fitzpatrick, D. R., 1 Sep 2019, In: Human Genetics.

    Research output: Contribution to journalReview articlepeer-review

  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., 1 Jul 2019, In: Journal of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  7. 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 journalArticlepeer-review

  8. 2018
  9. 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 articlepeer-review

  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 journalArticlepeer-review

  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., Gusella, J. F., Marsh, J. A., Graham Jr, J. M., Lin, A. E., Katsanis, N., Jones, P. L., Crowley Jr, W. F., Davis, E. E., FitzPatrick, D. R. & Talkowski, M. E., Feb 2017, In: Nature Genetics. 49, 2, p. 238-248 11 p.

    Research output: Contribution to journalArticlepeer-review

  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 journalLetterpeer-review

  15. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    Boldt, K., Van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T. M. T., Texier, Y., Van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., Dougherty, G., Lamers, I. J. C., Coene, K. L. M., Arts, H. H., Betts, M. J., Beyer, T., Bolat, E., Gloeckner, C. J., Haidari, K., Hetterschijt, L. & 76 others, Iaconis, D., Jenkins, D., Klose, F., Knapp, B., Latour, B., Letteboer, S. J. F., Marcelis, C. L., Mitic, D., Morleo, M., Oud, M. M., Riemersma, M., Rix, S., Terhal, P. A., Toedt, G., Van Dam, T. J. P., De Vrieze, E., Wissinger, Y., Wu, K. M., Al-Turki, S., Anderson, C., Antony, D., Barroso, I., Bentham, J., Bhattacharya, S., Carss, K., Chatterjee, K., Cirak, S., Cosgrove, C., Danecek, P., Durbin, R., Fitzpatrick, D., Floyd, J., Foley, A. R., Franklin, C., Futema, M., Humphries, S. E., Hurles, M., Joyce, C., McCarthy, S., Mitchison, H. M., Muddyman, D., Muntoni, F., O'Rahilly, S., Onoufriadis, A., Payne, F., Plagnol, V., Raymond, L., Savage, D. B., Scambler, P., Schmidts, M., Schoenmakers, N., Semple, R., Serra, E., Stalker, J., Van Kogelenberg, M., Vijayarangakannan, P., Walter, K., Whittall, R., Williamson, K., Apic, G., Beales, P. L., Blacque, O. E., Gibson, T. J., Huynen, M. A., Katsanis, N., Kremer, H., Omran, H., Van Wijk, E., Wolfrum, U., Kepes, F., Davis, E. E., Franco, B., Giles, R. H., Ueffing, M., Russell, R. B. & Roepman, R., 13 May 2016, In: Nature Communications. 7, 11491.

    Research output: Contribution to journalArticlepeer-review

Previous 1 2 3 4 5 6 Next