Edinburgh Research Explorer

Kathy Williamson

Research Fellow

  1. 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

  2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, Ş., Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M. & 55 others, Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellåker, C., Taylor, M. S. & FitzPatrick, D. R., Oct 2014, In: Journal of Medical Genetics. 51, 10, p. 659-668

    Research output: Contribution to journalArticlepeer-review

  3. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

    Ansari, M., Rainger, J., Hanson, I. M., Williamson, K. A., Sharkey, F., Harewood, L., Sandilands, A., Clayton-Smith, J., Dollfus, H., Bitoun, P., Meire, F., Fantes, J., Franco, B., Lorenz, B., Taylor, D. S., Stewart, F., Willoughby, C. E., McEntagart, M., Khaw, P. T., Clericuzio, C. & 33 others, Van Maldergem, L., Williams, D., Newbury-Ecob, R., Traboulsi, E. I., Silva, E. D., Madlom, M. M., Goudie, D. R., Fleck, B. W., Wieczorek, D., Kohlhase, J., McTrusty, A. D., Gardiner, C., Yale, C., Moore, A. T., Russell-Eggitt, I., Islam, L., Lees, M., Beales, P. L., Tuft, S. J., Solano, J. B., Splitt, M., Hertz, J. M., Prescott, T. E., Shears, D. J., Nischal, K. K., Doco-Fenzy, M., Prieur, F., Temple, I. K., Lachlan, K. L., Damante, G., Morrison, D. A., van Heyningen, V. & FitzPatrick, D. R., 28 Apr 2016, In: PLoS ONE. 11, 4, e0153757.

    Research output: Contribution to journalArticlepeer-review

  4. 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

  5. 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

  6. 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

  7. Expansion of ocular phenotypic features associated with mutations in ADAMTS18

    Chandra, A., Arno, G., Williamson, K., Sergouniotis, P. I., Preising, M. N., Charteris, D. G., Thompson, D. A., Holder, G. E., Borman, A. D., Davagnanam, I., Webster, A. R., Lorenz, B., FitzPatrick, D. R. & Moore, A. T., Aug 2014, In: JAMA ophthalmology. 132, 8, p. 996-1001 6 p.

    Research output: Contribution to journalArticlepeer-review

  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 articlepeer-review

  9. 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

  10. 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

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