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

  28. 2013
  29. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

    Gerth-Kahlert, C., Williamson, K., Ansari, M., Rainger, J. K., Hingst, V., Zimmermann, T., Tech, S., Guthoff, R. F., van Heyningen, V. & Fitzpatrick, D. R., 1 May 2013, In: Molecular Genetics & Genomic Medicine. 1, 1, p. 15-31 17 p.

    Research output: Contribution to journalArticlepeer-review

  30. 2009
  31. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

    Henderson, R. H., Williamson, K. A., Kennedy, J. S., Webster, A. R., Holder, G. E., Robson, A. G., FitzPatrick, D. R., van Heyningen, V. & Moore, A. T., Nov 2009, In: Molecular Vision. 15, 260, p. 2442-7 6 p.

    Research output: Contribution to journalArticlepeer-review

  32. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations

    Hingorani, M., Williamson, K. A., Moore, A. T. & van Heyningen, V., Jun 2009, In: Investigative Ophthalmology & Visual Science. 50, 6, p. 2581-90 10 p.

    Research output: Contribution to journalArticlepeer-review

  33. Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations

    Schmidt-Sidor, B., Szymańska, K., Williamson, K., van Heyningen, V., Roszkowski, T., Wierzba-Bobrowicz, T. & Zaremba, J., 2009, In: Folia Neuropathologica. 47, 4, p. 372-82 11 p.

    Research output: Contribution to journalArticlepeer-review

  34. 2008
  35. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

    Robinson, D. O., Howarth, R. J., Williamson, K. A., van Heyningen, V., Beal, S. J. & Crolla, J. A., Mar 2008, In: American Journal of Medical Genetics Part A. 146A, 5, p. 558-69 12 p.

    Research output: Contribution to journalArticlepeer-review

  36. 2007
  37. 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

  38. 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

  39. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

    Henderson, R. A., Williamson, K., Cumming, S., Clarke, M. P., Lynch, S. A., Hanson, I. M., FitzPatrick, D. R., Sisodiya, S. & van Heyningen, V., 2007, In: European Journal of Human Genetics. 15, 8, p. 898-901 4 p.

    Research output: Contribution to journalArticlepeer-review

  40. PAX6 mutations may be associated with high myopia

    Hewitt, A. W., Kearns, L. S., Jamieson, R. V., Williamson, K. A., van Heyningen, V. & Mackey, D. A., 2007, In: Ophthalmic genetics. 28, 3, p. 179-82 4 p.

    Research output: Contribution to journalArticlepeer-review

  41. 2006
  42. Erratum: Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome (Human Molecular Genetics (2006) vol. 15 (1413-1422) (doi:10.1093/hmg/dd1064)

    Williamson, K. A., Hever, A. M., Rainger, J., Rogers, R. C., Magee, A., Fiedler, Z., Keng, W. T., Sharkey, F. H., McGill, N., Hill, C. J., Schneider, A., Messina, M., Turnpenny, P. D., Fantes, J. A., van Heyningen, V. & FitzPatrick, D. R., 15 Jun 2006, In: Human Molecular Genetics. 15, 12, 1 p.

    Research output: Contribution to journalComment/debatepeer-review

  43. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

    Hever, A. M., Williamson, K. A. & van Heyningen, V., Jun 2006, In: Clinical genetics. 69, 6, p. 459-70 12 p.

    Research output: Contribution to journalArticlepeer-review

  44. 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

  45. Role of SOX2 mutations in human hippocampal malformations and epilepsy

    Sisodiya, S. M., Ragge, N. K., Cavalleri, G. L., Hever, A., Lorenz, B., Schneider, A., Williamson, K. A., Stevens, J. M., Free, S. L., Thompson, P. J., van Heyningen, V. & Fitzpatrick, D. R., Mar 2006, In: Epilepsia. 47, 3, p. 534-42 9 p.

    Research output: Contribution to journalArticlepeer-review

  46. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

    Williamson, K. A., Hever, A. M., Rainger, J., Rogers, R. C., Magee, A., Fiedler, Z., Keng, W. T., Sharkey, F. H., McGill, N., Hill, C. J., Schneider, A., Messina, M., Turnpenny, P. D., Fantes, J. A., van Heyningen, V. & FitzPatrick, D. R., 2006, In: Human Molecular Genetics. 15, 9, p. 1413-22 10 p.

    Research output: Contribution to journalArticlepeer-review

  47. 2005
  48. Heterozygous mutations of OTX2 cause severe ocular malformations

    Ragge, N. K., Brown, A. G., Poloschek, C. M., Lorenz, B., Henderson, R. A., Clarke, M. P., Russell-Eggitt, I., Fielder, A., Gerrelli, D., Martinez-Barbera, J. P., Ruddle, P., Hurst, J., Collin, J. R. O., Salt, A., Cooper, S. T., Thompson, P. J., Sisodiya, S. M., Williamson, K. A., Fitzpatrick, D. R., van Heyningen, V. & 1 others, Hanson, I. M., Jun 2005, In: American Journal of Human Genetics. 76, 6, p. 1008-22 15 p.

    Research output: Contribution to journalArticlepeer-review

  49. SOX2 anophthalmia syndrome

    Ragge, N. K., Lorenz, B., Schneider, A., Bushby, K., de Sanctis, L., de Sanctis, U., Salt, A., Collin, J. R. O., Vivian, A. J., Free, S. L., Thompson, P., Williamson, K. A., Sisodiya, S. M., van Heyningen, V. & Fitzpatrick, D. R., 15 May 2005, In: American Journal of Medical Genetics Part A. 135, 1, p. 1-7; discussion 8

    Research output: Contribution to journalArticlepeer-review

  50. 2004
  51. 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

  52. PAX6, Aniridia, and Related Phenotypes*

    Van Heyningen, V. & Williamson, K., Jun 2004, 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

  53. Cognitive functioning in humans with mutations of the PAX6 gene

    Thompson, P. J., Mitchell, T. N., Free, S. L., Williamson, K. A., Hanson, I. M., van Heyningen, V., Moore, A. T. & Sisodiya, S. M., 13 Apr 2004, In: Neurology. 62, 7, p. 1216-8 3 p.

    Research output: Contribution to journalArticlepeer-review

  54. 2003
  55. Quantitative MR image analysis in subjects with defects in the PAX6 gene

    Free, S. L., Mitchell, T. N., Williamson, K. A., Churchill, A. J., Shorvon, S. D., Moore, A. T., van Heyningen, V. & Sisodiya, S. M., Dec 2003, In: NeuroImage. 20, 4, p. 2281-90 10 p.

    Research output: Contribution to journalArticlepeer-review

  56. 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

  57. 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

  58. 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

  59. 2002
  60. 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

  61. 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

  62. 2001
  63. 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

  64. 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

  65. 2000
  66. 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

  67. 1998
  68. 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

  69. 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

  70. 1995
  71. Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy?

    Webb, N. J., Lewis, M. A., Williamson, K., van Heyningen, V., Bruce, J., Lendon, M. & Postlethwaite, R. J., Apr 1995, In: Pediatric Nephrology. 9, 2, p. 252-3 2 p.

    Research output: Contribution to journalArticlepeer-review

  72. Expression of the Wilms' tumor gene WT1 in human malignant mesothelioma cell lines and relationship to platelet-derived growth factor A and insulin-like growth factor 2 expression

    Langerak, A. W., Williamson, K. A., Miyagawa, K., Hagemeijer, A., Versnel, M. A. & Hastie, N. D., Feb 1995, In: Genes, Chromosomes and Cancer. 12, 2, p. 87-96 10 p.

    Research output: Contribution to journalArticlepeer-review

  73. A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1

    Fantes, J. A., Oghene, K., Boyle, S., Danes, S., Fletcher, J. M., Bruford, E. A., Williamson, K., Seawright, A., Schedl, A. & Hanson, I., 20 Jan 1995, In: Genomics. 25, 2, p. 447-61 15 p.

    Research output: Contribution to journalArticlepeer-review

  74. 1994
  75. Towards an understanding of Wilms' tumour

    Williamson, K. A. & Van Heyningen, V., Jun 1994, In: International Journal of Experimental Pathology. 75, 3, p. 147-55 9 p.

    Research output: Contribution to journalReview articlepeer-review

  76. 1993
  77. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion

    Little, M. H., Williamson, K. A., Mannens, M., Kelsey, A., Gosden, C., Hastie, N. D. & van Heyningen, V., Mar 1993, In: Human Molecular Genetics. 2, 3, p. 259-64 6 p.

    Research output: Contribution to journalArticlepeer-review

  78. 1987
  79. A new allele of the testosterone-responsive gene, Hdc-a, in the histidine decarboxylase gene complex of the mouse

    Middleton, R. J., Williamson, K. & Bulfield, G., Dec 1987, In: Genetics Research. 50, 3, p. 213-7 5 p.

    Research output: Contribution to journalArticlepeer-review