Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2015
  2. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    Handley, M. T., Carpanini, S., Mali, G., Sidjanin, D. J., Aligianis, I. A., Jackson, I. J. & Fitzpatrick, D. R. 1 Jun 2015 In : Open Biology. 5, 6, 150047

    Research output: Contribution to journalArticle

  3. Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

    Bengani, H. , van Heyningen, V. , FitzPatrick, D. R. & 18 others Naville, M., Ishibashi, M., Ferg, M., Rinkwitz, S., Krecsmarik, M., Hawkins, T. A., Wilson, S. W., Manning, E., Chilamakuri, C. S. R., Wilson, D. I., Louis, A., Raymond, F. L., Rastegar, S., Straehle, U., Lenhard, B., Bally-Cuif, L., Becker, T. S. & Crollius, H. R. 24 Apr 2015 In : Nature Communications. 6, 9 p., 6904

    Research output: Contribution to journalArticle

  4. Large-scale discovery of novel genetic causes of developmental disorders

    Deciphering Developmental Disorders Study & FitzPatrick, D. 12 Mar 2015 In : Nature. 519, 7542, p. 223-8 6 p.

    Research output: Contribution to journalLetter

  5. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

    Ansari, M. , FitzPatrick, D. R. & 60 others Gil-Rodríguez, M. C., Deardorff, M. A., Tan, C. A., Parenti, I., Baquero-Montoya, C., Ousager, L. B., Puisac, B., Hernández-Marcos, M., Teresa-Rodrigo, M. E., Marcos-Alcalde, I., Wesselink, J-J., Lusa-Bernal, S., Bijlsma, E. K., Braunholz, D., Bueno-Martinez, I., Clark, D., Cooper, N. S., Curry, C. J., Fisher, R., Fryer, A., Ganesh, J., Gervasini, C., Gillessen-Kaesbach, G., Guo, Y., Hakonarson, H., Hopkin, R. J., Kaur, M., Keating, B. J., Kibaek, M., Kinning, E., Kleefstra, T., Kline, A. D., Kuchinskaya, E., Larizza, L., Li, Y. R., Liu, X., Mariani, M., Picker, J. D., Pié, Á., Pozojevic, J., Queralt, E., Richer, J., Roeder, E., Sinha, A., Scott, R. H., So, J., Wusik, K. A., Wilson, L., Zhang, J., Gómez-Puertas, P., Casale, C. H., Ström, L., Selicorni, A., Ramos, F. J., Jackson, L. G., Krantz, I. D., Das, S., Hennekam, R. C. M., Kaiser, F. J. & Pié, J. 5 Feb 2015 In : Human Mutation.

    Research output: Contribution to journalArticle

  6. 2014
  7. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

    FitzPatrick, D. R. & 32 others Wright, C. F., Fitzgerald, T. W., Jones, W. D., Clayton, S., McRae, J. F., van Kogelenberg, M., King, D. A., Ambridge, K., Barrett, D. M., Bayzetinova, T., Bevan, A. P., Bragin, E., Chatzimichali, E. A., Gribble, S., Jones, P., Krishnappa, N., Mason, L. E., Miller, R., Morley, K. I., Parthiban, V., Prigmore, E., Rajan, D., Sifrim, A., Swaminathan, G. J., Tivey, A. R., Middleton, A., Parker, M., Carter, N. P., Barrett, J. C., Hurles, M. E., Firth, H. V. & on behalf of the DDD study 16 Dec 2014 In : The Lancet.

    Research output: Contribution to journalArticle

  8. A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families

    Metsu, S., Rainger, J. K., Debacker, K., Bernhard, B., Rooms, L., Grafodatskaya, D., Weksberg, R., Fombonne, E., Taylor, M. S., Scherer, S. W., Kooy, R. F. & FitzPatrick, D. R. Nov 2014 In : Human Mutation. 35, 11, p. 1295-300 6 p.

    Research output: Contribution to journalArticle

  9. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

    Snijders Blok, C., Corsten-Janssen, N., FitzPatrick, D. R., Romano, C., Fichera, M., Vitello, G. A., Willemsen, M. H., Schoots, J., Pfundt, R., van Ravenswaaij-Arts, C. M. A., Hoefsloot, L. & Kleefstra, T. Nov 2014 In : American Journal of Medical Genetics Part A. 164, 11, p. 2843-8 6 p.

    Research output: Contribution to journalArticle

  10. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

    Ansari, M., Rainger, J. K., Murray, J. E., Hanson, I., Firth, H. V., Mehendale, F., Amiel, J., Gordon, C. T., Percesepe, A., Mazzanti, L., Fryer, A., Ferrari, P., Devriendt, K., Temple, I. K. & FitzPatrick, D. R. Oct 2014 In : European journal of medical genetics. 57, 10, p. 587-95 9 p.

    Research output: Contribution to journalArticle

  11. The clinical significance of small copy number variants in neurodevelopmental disorders

    FitzPatrick, D. & 24 others 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., Ritter, S., 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

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

    Ansari, M. , Aldridge, R. , Meynert, A. M. , Bengani, H. , Taylor, M. S. , FitzPatrick, D. R. & 69 others Poke, G., Ferry, Q., Williamson, K., 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., 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. 14 Aug 2014 In : Journal of Medical Genetics. 51, 10, p. 659-668

    Research output: Contribution to journalArticle

Previous 1 2 3 4 5 6 7 8 ...17 Next