Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2011
  2. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

    Fitzpatrick, D. R. & 20 others Snape, K., Hanks, S., Ruark, E., Barros-Núñez, P., Elliott, A., Murray, A., Lane, A. H., Shannon, N., Callier, P., Chitayat, D., Clayton-Smith, J., Gisselsson, D., Jacquemont, S., Asakura-Hay, K., Micale, M. A., Tolmie, J., Turnpenny, P. D., Wright, M., Douglas, J. & Rahman, N. 2011 In : Nature Genetics. 43, 6, p. 527-9 3 p.

    Research output: Contribution to journalArticle

  3. The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

    Lynch, S. A., Foulds, N., Thuresson, A-C., Collins, A. L., Annerén, G., Hedberg, B-O., Delaney, C. A., Iremonger, J., Murray, C. M., Crolla, J. A., Costigan, C., Lam, W., Fitzpatrick, D. R., Regan, R., Ennis, S. & Sharkey, F. 2011 In : European Journal of Human Genetics. 19, 5, p. 534-9 6 p.

    Research output: Contribution to journalArticle

  4. 2010
  5. The Deciphering Developmental Disorders (DDD) project

    Firth, H. V., Fitzpatrick, D. R., Parker, M., Bevan, A. P., Corpas, M., Bragin, E., Clayton, S., Barrett, J., Hurles, M. E. & Carter, N. P. Sep 2010 In : Journal of Medical Genetics. 47, p. S43-S43 1 p.

    Research output: Contribution to journalMeeting abstract

  6. Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

    Goehring, I., Tagariello, A., Endele, S., Stolt, C. C., Ghassibe, M., Fisher, M., Thiel, C. T., Trautmann, U., Vikkula, M., Winterpacht, A., FitzPatrick, D. & Rauch, A. Feb 2010 In : Journal of Medical Genetics. 47, 2, p. 91-98 8 p.

    Research output: Contribution to journalArticle

  7. 'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)

    Harewood, L., Keeling, J. W., Fantes, J. A., Opitz, J. M. & FitzPatrick, D. R. 2010 In : Clinical dysmorphology. 19, 1, p. 5-13 9 p.

    Research output: Contribution to journalArticle

  8. A male with unilateral microphthalmia reveals a role for TMX3 in eye development

    Chao, R., Nevin, L., Agarwal, P., Riemer, J., Bai, X., Delaney, A., Akana, M., JimenezLopez, N., Bardakjian, T., Schneider, A., Chassaing, N., Schorderet, D. F., FitzPatrick, D., Kwok, P., Ellgaard, L., Gould, D. B., Zhang, Y., Malicki, J., Baier, H. & Slavotinek, A. 2010 In : PLoS One. 5, 5, p. e10565

    Research output: Contribution to journalArticle

  9. Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations

    Harewood, L., Liu, M., Keeling, J., Howatson, A., Whiteford, M., Branney, P., Evans, M., Fantes, J. & Fitzpatrick, D. R. 2010 In : PLoS One. 5, 8, p. e12375

    Research output: Contribution to journalArticle

  10. 2009
  11. 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 journalArticle

  12. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

    Fitzpatrick, D. & 36 others Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., Boute, O., Perveen, R., Law, C., Moore, A., Lemke, J., Fellmann, F., Debray, F-G., Dastot-Le-Moal, F., Gerard, M., Martin, J., Bitoun, P., Goossens, M., Verloes, A., Schinzel, A., Bartholdi, D., Bardakjian, T., Hay, B., Jenny, K., Johnston, K., Lyons, M., Belmont, J. W., Biesecker, L. G., Giurgea, I. & Black, G. Oct 2009 In : European Journal of Human Genetics. 17, 10, p. 1325-35 11 p.

    Research output: Contribution to journalArticle

  13. Long-range regulation at the SOX9 locus in development and disease

    Gordon, C. T., Tan, T. Y., Benko, S., FitzPatrick, D., Lyonnet, S. & Farlie, P. G. Oct 2009 In : Journal of Medical Genetics. 46, 10, p. 649-656 8 p.

    Research output: Contribution to journalArticle

Previous 1...4 5 6 7 8 9 10 11 ...17 Next