Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2014
  2. The clinical significance of small copy number variants in neurodevelopmental disorders

    Asadollahi, R. , Oneda, B. , Joset, P. , Azzarello-Burri, S. , Bartholdi, D. , Steindl, K. , Vincent, M. , Cobilanschi, J. , Sticht, H. , Baldinger, R. , Reissmann, R. , Sudholt, I. , Thiel, C. T. , Ekici, A. B. , Reis, A. , Bijlsma, E. K. , Andrieux, J. , Dieux, A. , FitzPatrick, D. , Ritter, S. & 5 others Baumer, A., Latal, B., Plecko, B., Jenni, O. G. & Rauch, A. Oct 2014 In : Journal of Medical Genetics. 51, 10, p. 677-88 12 p.

    Research output: Contribution to journalArticle

  3. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Ansari, M. , Poke, G. , Ferry, Q. , Williamson, K. , Aldridge, R. , Meynert, A. M. , Bengani, H. , Chan, C. Y. , Kayserili, H. , Avci, S. , Hennekam, R. C. M. , Lampe, A. K. , Redeker, E. , Homfray, T. , Ross, A. , Falkenberg Smeland, M. , Mansour, S. , Parker, M. J. , Cook, J. A. , Splitt, M. & 55 others Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellåker, C., Taylor, M. S. & FitzPatrick, D. R. 14 Aug 2014 In : Journal of Medical Genetics. 51, 10, p. 659-668

    Research output: Contribution to journalArticle

  4. Expansion of ocular phenotypic features associated with mutations in ADAMTS18

    Chandra, A., Arno, G., Williamson, K., Sergouniotis, P. I., Preising, M. N., Charteris, D. G., Thompson, D. A., Holder, G. E., Borman, A. D., Davagnanam, I., Webster, A. R., Lorenz, B., FitzPatrick, D. R. & Moore, A. T. Aug 2014 In : JAMA ophthalmology. 132, 8, p. 996-1001 6 p.

    Research output: Contribution to journalArticle

  5. Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

    Gordon, C. T., Attanasio, C., Bhatia, S., Benko, S., Ansari, M., Tan, T. Y., Munnich, A., Pennacchio, L. A., Abadie, V., Temple, I. K., Goldenberg, A., van Heyningen, V., Amiel, J., FitzPatrick, D., Kleinjan, D. A., Visel, A. & Lyonnet, S. Aug 2014 In : Human Mutation. 35, 8, p. 1011-20 10 p.

    Research output: Contribution to journalArticle

  6. Variant detection sensitivity and biases in whole genome and exome sequencing

    Meynert, A. M., Ansari, M., FitzPatrick, D. R. & Taylor, M. S. 19 Jul 2014 In : BMC Bioinformatics. 15, 1, p. 247

    Research output: Contribution to journalArticle

  7. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

    Rainger, J. , Pehlivan, D. , Johansson, S. , Bengani, H. , Sanchez-Pulido, L. , Williamson, K. A. , Ture, M. , Barker, H. , Rosendahl, K. , Spranger, J. , Horn, D. , Meynert, A. , Floyd, J. A. B. , Prescott, T. , Anderson, C. A. , Rainger, J. K. , Karaca, E. , Gonzaga-Jauregui, C. , Jhangiani, S. , Muzny, D. M. & 16 others Seawright, A., Soares, D. C., Kharbanda, M., Murday, V., Finch, A., Gibbs, R. A., van Heyningen, V., Taylor, M. S., Yakut, T., Knappskog, P. M., Hurles, M. E., Ponting, C., Lupski, J. R., Houge, G., FitzPatrick, D. R. & UK10K 5 Jun 2014 In : American Journal of Human Genetics. 94, 6, p. 915-23 9 p.

    Research output: Contribution to journalArticle

  8. The genetic architecture of microphthalmia, anophthalmia and coloboma

    Williamson, K. A. & FitzPatrick, D. R. 22 May 2014 In : European journal of medical genetics.

    Research output: Contribution to journalArticle

  9. FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

    Metsu, S., Rooms, L., Rainger, J., Taylor, M. S., Bengani, H., Wilson, D. I., Chilamakuri, C. S. R., Morrison, H., Vandeweyer, G., Reyniers, E., Douglas, E., Thompson, G., Haan, E., Gecz, J., Fitzpatrick, D. R. & Kooy, R. F. 24 Apr 2014 In : PLoS Genetics. 10, 4, p. e1004242

    Research output: Contribution to journalArticle

  10. Rare variants in NR2F2 cause congenital heart defects in humans

    Al Turki, S. , Manickaraj, A. K. , Mercer, C. L. , Gerety, S. S. , Hitz, M-P. , Lindsay, S. , D'Alessandro, L. C. A. , Swaminathan, G. J. , Bentham, J. , Arndt, A-K. , Low, J. , Breckpot, J. , Gewillig, M. , Thienpont, B. , Abdul-Khaliq, H. , Harnack, C. , Hoff, K. , Kramer, H-H. , Schubert, S. , Siebert, R. & 20 others Toka, O., Cosgrove, C., Watkins, H., Lucassen, A. M., O'Kelly, I. M., Salmon, A. P., Bu'lock, F. A., Granados-Riveron, J., Setchfield, K., Thornborough, C., Brook, J. D., Mulder, B., Klaassen, S., Bhattacharya, S., Devriendt, K., Fitzpatrick, D. F., Wilson, D. I., Mital, S., Hurles, M. E. & UK10K Consortium 3 Apr 2014 In : American Journal of Human Genetics. 94, 4, p. 574-85 12 p.

    Research output: Contribution to journalArticle

  11. 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

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