Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2014
  2. 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., Fitzpatrick, D. R. & UK10K Consortium 6 Feb 2014 In : American Journal of Human Genetics. 94, 2, p. 295-302 8 p.

    Research output: Contribution to journalArticle

  3. 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. & 31 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., Fitzpatrick, D. R. & Care4Rare Canada Consortium 31 Jan 2014 In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  4. Managing clinically significant findings in research: the UK10K example

    Kaye, J., Hurles, M., Griffin, H., Grewal, J., Bobrow, M., Timpson, N., Smee, C., Bolton, P., Durbin, R., Dyke, S., Fitzpatrick, D., Kennedy, K., Kent, A., Muddyman, D., Muntoni, F., Raymond, L. F., Semple, R. & Spector, T. 15 Jan 2014 In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  5. Clinical utility gene card for Cornelia de Lange syndrome

    Ramos, F. J., Puisac, B., Baquero-Montoya, C., Gil-Rodríguez, M. C., Bueno, I., Deardorff, M. A., Hennekam, R. C., Kaiser, F. J., Krantz, I. D., Musio, A., Selicorni, A., FitzPatrick, D. R. & Pié, J. 2014 In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  6. Diagnostically relevant facial gestalt information from ordinary photos

    Ferry, Q., Steinberg, J., Webber, C., FitzPatrick, D. R., Ponting, C., Zisserman, A. & Nellåker, C. 2014 In : eLIFE. 3, p. e02020

    Research output: Contribution to journalArticle

  7. 2013
  8. Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin Sequence

    Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., Ansari, M., Crow, J., Mehendale, F., Palinkasova, B., Dixon, M. J., Thompson, P. J., Matarin, M., Sisodiya, S. M., Kleinjan, D. A. & Fitzpatrick, D. R. 20 Dec 2013 In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  9. A trans-acting protein effect causes severe eye malformation in the mp mouse

    Rainger, J., Keighren, M., Keene, D. R., Charbonneau, N. L., Rainger, J. K., Fisher, M., Mella, S., Huang, J. T-J., Rose, L., Van't Hof, R., Sakai, L. Y., Jackson, I. J. & Fitzpatrick, D. R. Dec 2013 In : PLoS Genetics. 9, 12, p. e1003998

    Research output: Contribution to journalArticle

  10. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

    Tatton-Brown, K. , Murray, A. , Hanks, S. , Douglas, J. , Armstrong, R. , Banka, S. , Bird, L. M. , Clericuzio, C. L. , Cormier-Daire, V. , Cushing, T. , Flinter, F. , Jacquemont, M-L. , Joss, S. , Kinning, E. , Lynch, S. A. , Magee, A. , McConnell, V. , Medeira, A. , Ozono, K. , Patton, M. & 15 others Rankin, J., Shears, D., Simon, M., Splitt, M., Strenger, V., Stuurman, K., Taylor, C., Titheradge, H., Van Maldergem, L., Temple, I. K., Cole, T., Seal, S., Rahman, N., Childhood Overgrowth Consortium & FitzPatrick, D. Dec 2013 In : American Journal of Medical Genetics Part A. 161A, 12, p. 2972-80 9 p.

    Research output: Contribution to journalArticle

  11. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Köhler, S. , Doelken, S. C. , Mungall, C. J. , Bauer, S. , Firth, H. V. , Bailleul-Forestier, I. , Black, G. C. M. , Brown, D. L. , Brudno, M. , Campbell, J. , Fitzpatrick, D. R. , Eppig, J. T. , Jackson, A. P. , Freson, K. , Girdea, M. , Helbig, I. , Hurst, J. A. , Jähn, J. , Jackson, L. G. , Kelly, A. M. & 27 others Ledbetter, D. H., Mansour, S., Martin, C. L., Moss, C., Mumford, A., Ouwehand, W. H., Park, S-M., Riggs, E. R., Scott, R. H., Sisodiya, S., Vooren, S. V., Wapner, R. J., Wilkie, A. O. M., Wright, C. F., Vulto-van Silfhout, A. T., Leeuw, N. D., de Vries, B. B. A., Washingthon, N. L., Smith, C. L., Westerfield, M., Schofield, P., Ruef, B. J., Gkoutos, G. V., Haendel, M., Smedley, D., Lewis, S. E. & Robinson, P. N. 11 Nov 2013 In : Nucleic Acids Research.

    Research output: Contribution to journalArticle

  12. Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

    Attanasio, C., Nord, A. S., Zhu, Y., Blow, M. J., Li, Z., Liberton, D. K., Morrison, H., Plajzer-Frick, I., Holt, A., Hosseini, R., Phouanenavong, S., Akiyama, J. A., Shoukry, M., Afzal, V., Rubin, E. M., FitzPatrick, D. R., Ren, B., Hallgrímsson, B., Pennacchio, L. A. & Visel, A. 25 Oct 2013 In : Science. 342, 6157, 10 p., 1241006

    Research output: Contribution to journalArticle

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