Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2014
  2. 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

  3. 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

  4. 2013
  5. 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

  6. 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

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

    FitzPatrick, D. & 34 others 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., 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 Dec 2013 In : American Journal of Medical Genetics Part A. 161A, 12, p. 2972-80 9 p.

    Research output: Contribution to journalArticle

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

    Fitzpatrick, D. R. , Jackson, A. P. & 45 others 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., Eppig, J. T., Freson, K., Girdea, M., Helbig, I., Hurst, J. A., Jähn, J., Jackson, L. G., Kelly, A. M., 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

  9. 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

  10. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

    Fitzpatrick, D. & 21 others Czeschik, J. C., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M., Rahmann, S., Schweiger, B., Splitt, M., Wollnik, B., Lüdecke, H-J., Zeschnigk, M. & Wieczorek, D. Aug 2013 In : Human Genetics. 132, 8, p. 885-98 14 p.

    Research output: Contribution to journalArticle

  11. Dysmorphology at a distance: results of a web-based diagnostic service

    Fitzpatrick, D. & 39 others Douzgou, S., Clayton-Smith, J., Gardner, S., Day, R., Griffiths, P., Strong, K., Amiel, J., Baraitser, M., Brueton, L., Brunner, H., Chrzanowska, K., Dallapiccola, B., Del Campo Casanelles, M., Devriendt, K., Donnai, D., Gillessen-Kaesbach, G., Houge, G., Kerr, B., Krajewska-Walasek, M., Lacombe, D., Meinecke, P., Metcalfe, K., Mortier, G., Odent, S., Philip, N., Prescott, T., Raas-Rothschild, A., Rauch, A., Rittinger, O., Salonen, R., Schrander-Stumpel, C., Suri, M., Temple, K., Tolmie, J., Van Der Burgt, I., Verloes, A., Wieczorek, D., Zenker, M. & the DYSCERNE expert panel 10 Jul 2013 In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  12. 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 journalArticle

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