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

  16. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    McEntagart, M., Williamson, K. A., Rainger, J. K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Lopaz Laso, E., Sanchez-Carpintero, R., Jesus, B., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L. & 17 others, Ceulemans, B., Meire, F., Temple, I. K., Prieur, F., Williams, J., Clouston, P., Németh, A. H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., DDD Study, van Heyningen, V., Marsh, J. A., Elmslie, F. & FitzPatrick, D. R., 5 May 2016, In: American Journal of Human Genetics. 98, 5, p. 981-992 12 p.

    Research output: Contribution to journalArticlepeer-review

  17. 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

  18. A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma

    Liu, C., Widen, S., Williamson, K., Ratnapriya, R., Gerth-Kahlert, C., Rainger, J., Alur, R., Strachan, E., Manjanath, S., Balakrishnan, A., Floyd, J., UK10K Consortium, Li, T., Waskiewicz, A., Brooks, B., Lehmann, O. J., FitzPatrick, D. & Swaroop, A., 1 Apr 2016, In: Human Molecular Genetics.

    Research output: Contribution to journalArticlepeer-review

  19. 2015
  20. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Huang, J., Howie, B., McCarthy, S., Memari, Y., Walter, K., Min, J. L., Danecek, P., Malerba, G., Trabetti, E., Zheng, H-F., UK10K Consortium, Gambaro, G., Richards, J. B., Durbin, R., Timpson, N. J., Marchini, J. & Soranzo, N., 14 Sep 2015, In: Nature Communications. 6, p. 8111

    Research output: Contribution to journalArticlepeer-review

  21. 2014
  22. 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

  23. 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

  24. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

    Rainger, J., Pehlivan, D., Johansson, S., Bengani, H., Sanchez-Pulido, L., Williamson, K. A., Ture, M., Barker, H., Rosendahl, K., Spranger, J., Horn, D., Meynert, A., Floyd, J. A. B., Prescott, T., Anderson, C. A., Rainger, J. K., Karaca, E., Gonzaga-Jauregui, C., Jhangiani, S., Muzny, D. M. & 16 others, Seawright, A., Soares, D. C., Kharbanda, M., Murday, V., Finch, A., Gibbs, R. A., van Heyningen, V., Taylor, M. S., Yakut, T., Knappskog, P. M., Hurles, M. E., Ponting, C., Lupski, J. R., Houge, G., FitzPatrick, D. R. & UK10K, 5 Jun 2014, In: American Journal of Human Genetics. 94, 6, p. 915-923 9 p.

    Research output: Contribution to journalArticlepeer-review

  25. The genetic architecture of microphthalmia, anophthalmia and coloboma

    Williamson, K. A. & FitzPatrick, D. R., 22 May 2014, In: European journal of medical genetics.

    Research output: Contribution to journalArticlepeer-review

  26. Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

    Williamson, K. A., Rainger, J., Floyd, J. A. B., Ansari, M., Meynert, A., Aldridge, K. V., Rainger, J. K., Anderson, C. A., Moore, A. T., Hurles, M. E., Clarke, A., van Heyningen, V., Verloes, A., Taylor, M. S., Wilkie, A. O. M., UK10K Consortium & Fitzpatrick, D. R., 6 Feb 2014, In: American Journal of Human Genetics. 94, 2, p. 295-302 8 p.

    Research output: Contribution to journalArticlepeer-review

  27. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Kaiser, F. J., Ansari, M., Braunholz, D., Concepción Gil-Rodríguez, M., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J. J., Brunner, H. G., Clark, D., Del Campo, M., Di Donato, N., Diakumis, P., Dubbs, H. & 42 others, Dyment, D. A., Eckhold, J., Ernst, S., Ferreira, J. C., Francey, L. J., Gehlken, U., Guillén-Navarro, E., Gyftodimou, Y., Hall, B. D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J. M., Yntema, H., Innes, A. M., Kline, A. D., Krumina, Z., Lee, H., Leppig, K., Lynch, S. A., Mallozzi, M. B., Mannini, L., McKee, S., Mehta, S. G., Micule, I., Mohammed, S., Moran, E., Mortier, G. R., Moser, J-A. S., Noon, S. E., Nozaki, M., Nunes, L., Pappas, J. G., Penney, LS., Perez Aytes, A., Petersen, M. B., Puisac, B., Revencu, N., Roeder, E., Williamson, K., Fitzpatrick, D. R. & Deardorff, M. A., 31 Jan 2014, In: Human Molecular Genetics.

    Research output: Contribution to journalArticlepeer-review

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