Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2013
  2. 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

  3. The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    Nikkel, S. M. , Dauber, A. , de Munnik, S. , Connolly, M. , Hood, R. L. , Caluseriu, O. , Hurst, J. , Kini, U. , Nowaczyk, M. J. , Afenjar, A. , Albrecht, B. , Allanson, J. E. , Balestri, P. , Ben-Omran, T. , Brancati, F. , Cordeiro, I. , da Cunha, B. S. , Delaney, L. A. , Destrée, A. , Fitzpatrick, D. & 48 others Forzano, F., Ghali, N., Gillies, G., Harwood, K., Hendriks, Y. M., Héron, D., Hoischen, A., Honey, E. M., Hoefsloot, L. H., Ibrahim, J., Jacob, C. M., Kant, S. G., Kim, C. A., Kirk, E. P., Knoers, N. V., Lacombe, D., Lee, C., Lo, I. F., Lucas, L. S., Mari, F., Mericq, V., Moilanen, J. S., Møller, S. T., Moortgat, S., Pilz, D. T., Pope, K., Price, S., Renieri, A., Sá, J., Schoots, J., Silveira, E. L., Simon, M. E., Slavotinek, A., Temple, I. K., van der Burgt, I., de Vries, B. B., Weisfeld-Adams, J. D., Whiteford, M. L., Wierczorek, D., Wit, J. M., Yee, C. F., Beaulieu, C. L., White, S. M., Bulman, D. E., Bongers, E., Brunner, H., Feingold, M. & Boycott, K. M. 27 Apr 2013 In : Orphanet journal of rare diseases. 8, 1, p. 63

    Research output: Contribution to journalArticle

  4. Filling in the gaps in cranial suture biology

    Fitzpatrick, D. R. Mar 2013 In : Nature Genetics. 45, 3, p. 231-232 2 p.

    Research output: Contribution to journalArticle

  5. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

    Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G. & Evans, D. G. Mar 2013 In : Nature Genetics. 45, 3, p. 295-298 4 p.

    Research output: Contribution to journalArticle

  6. 2012
  7. Miller (Gene-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Rainger, J. , Bengani, H. , Campbell, L. , Anderson, E. , Sokhi, K. , Lam, W. , Riess, A. , Ansari, M. , Smithson, S. , Lees, M. , Mercer, C. , McKenzie, K. , Lengfeld, T. , Gener Querol, B. , Branney, P. , McKay, S. , Morrison, H. , Medina, B. , Robertson, M. , Kohlhase, J. & 4 others Gordon, C., Kirk, J., Wieczorek, D. & FitzPatrick, D. R. 15 Sep 2012 In : Human Molecular Genetics. 21, 18, p. 3969-3983 15 p.

    Research output: Contribution to journalArticle

  8. Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

    Allanson, J. , Smith, A. , Hare, H. , Albrecht, B. , Bijlsma, E. , Dallapiccola, B. , Donti, E. , Fitzpatrick, D. , Isidor, B. , Lachlan, K. , Le Caignec, C. , Prontera, P. , Raas-Rothschild, A. , Rogaia, D. , van Bon, B. , Aradhya, S. , Crocker, S. F. , Jarinova, O. , McGowan-Jordan, J. , Boycott, K. & 2 others Bulman, D. & Fagerberg, C. R. Sep 2012 In : American Journal of Medical Genetics Part A. 158A, 9, p. 2091-2099 9 p.

    Research output: Contribution to journalArticle

  9. An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL

    Murray, J. E., Walayat, M., Gillett, P., Sharkey, F. H., Rajan, D., Carter, N. P. & FitzPatrick, D. R. 2012 In : Clinical dysmorphology. 21, 1, p. 22-3 2 p.

    Research output: Contribution to journalArticle

  10. 2011
  11. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    Rainger, J. , van Beusekom, E. , Ramsay, J. K. , McKie, L. , Al-Gazali, L. , Pallotta, R. , Saponari, A. , Branney, P. , Fisher, M. , Morrison, H. , Bicknell, L. , Gautier, P. , Perry, P. , Sokhi, K. , Sexton, D. , Bardakjian, T. M. , Schneider, A. S. , Elcioglu, N. , Ozkinay, F. , Koenig, R. & 16 others Mégarbané, A., Semerci, C. N., Khan, A., Zafar, S., Hennekam, R., Sousa, S. B., Ramos, L., Garavelli, L., Furga, A. S., Wischmeijer, A., Jackson, I. J., Gillessen-Kaesbach, G., Brunner, H. G., Wieczorek, D., van Bokhoven, H. & Fitzpatrick, D. R. Jul 2011 In : PLoS Genetics. 7, 7, e1002114

    Research output: Contribution to journalArticle

  12. Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla

    Berry, R., Harewood, L., Pei, L., Fisher, M., Brownstein, D., Ross, A., Alaynick, W. A., Moss, J., Hastie, N. D., Hohenstein, P., Davies, J. A., Evans, R. M. & FitzPatrick, D. R. 1 Mar 2011 In : Human Molecular Genetics. 20, 5, p. 917-926 10 p.

    Research output: Contribution to journalArticle

  13. Enhancer-adoption as a mechanism of human developmental disease

    Lettice, L. A., Daniels, S., Sweeney, E., Venkataraman, S., Devenney, P. S., Gautier, P., Morrison, H., Fantes, J., Hill, R. E. & FitzPatrick, D. R. 2011 In : Human Mutation. 32, 12, p. 1492-9 8 p.

    Research output: Contribution to journalArticle

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