Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2013
  2. The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    Fitzpatrick, D. & 67 others 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., 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

  3. 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

  4. 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

  5. 2012
  6. 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. , Sokhi, K. , Ansari, M. , Medina, B. , FitzPatrick, D. R. & 18 others Campbell, L., Anderson, E., Lam, W., Riess, A., Smithson, S., Lees, M., Mercer, C., McKenzie, K., Lengfeld, T., Gener Querol, B., Branney, P., McKay, S., Morrison, H., Robertson, M., Kohlhase, J., Gordon, C., Kirk, J. & Wieczorek, D. 15 Sep 2012 In : Human Molecular Genetics. 21, 18, p. 3969-3983 15 p.

    Research output: Contribution to journalArticle

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

    Fitzpatrick, D. & 21 others Allanson, J., Smith, A., Hare, H., Albrecht, B., Bijlsma, E., Dallapiccola, B., Donti, E., 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., 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

  8. 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

  9. 2011
  10. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    Rainger, J. , Fisher, M. , Bicknell, L. , Perry, P. , Sokhi, K. , Jackson, I. J. , Fitzpatrick, D. R. & 29 others van Beusekom, E., Ramsay, J. K., McKie, L., Al-Gazali, L., Pallotta, R., Saponari, A., Branney, P., Morrison, H., Gautier, P., Sexton, D., Bardakjian, T. M., Schneider, A. S., Elcioglu, N., Ozkinay, F., Koenig, R., Mégarbané, A., Semerci, C. N., Khan, A., Zafar, S., Hennekam, R., Sousa, S. B., Ramos, L., Garavelli, L., Furga, A. S., Wischmeijer, A., Gillessen-Kaesbach, G., Brunner, H. G., Wieczorek, D. & van Bokhoven, H. Jul 2011 In : PLoS Genetics. 7, 7, e1002114

    Research output: Contribution to journalArticle

  11. 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

  12. 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

  13. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

    Fisher, M. , FitzPatrick, D. R. & 19 others Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., Blaumeiser, B., Winship, W. S., Reardon, W., Maher, E. R., Wuyts, W., Zenker, M., Lamarche-Vane, N. & Trembath, R. C. 2011 In : American Journal of Human Genetics. 88, 5, p. 574-85 12 p.

    Research output: Contribution to journalArticle

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