Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2015
  2. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

    Parker, M. J., Fryer, A. E., Shears, D. J., Lachlan, K. L., McKee, S. A., Magee, A. C., Mohammed, S., Vasudevan, P. C., Park, S-M., Benoit, V., Lederer, D., Maystadt, I., Study, D. & FitzPatrick, D. R. Oct 2015 In : American Journal of Medical Genetics Part A.

    Research output: Contribution to journalArticle

  3. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

    Horn, D., Prescott, T., Houge, G., Brække, K., Rosendahl, K., Nishimura, G., FitzPatrick, D. R. & Spranger, J. Aug 2015 In : European journal of medical genetics. 58, 8, p. 387-391 5 p.

    Research output: Contribution to journalArticle

  4. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

    Houge, G. , Haesen, D. , Vissers, L. E. L. M. , Mehta, S. , Parker, M. J. , Wright, M. , Vogt, J. , McKee, S. , Tolmie, J. L. , Cordeiro, N. , Kleefstra, T. , Willemsen, M. H. , Reijnders, M. R. F. , Berland, S. , Hayman, E. , Lahat, E. , Brilstra, E. H. , van Gassen, K. L. I. , Zonneveld-Huijssoon, E. , de Bie, C. I. & 8 others Hoischen, A., Eichler, E. E., Holdhus, R., Steen, V. M., Døskeland, S. O., Hurles, M. E., FitzPatrick, D. R. & Janssens, V. 13 Jul 2015 In : Journal of Clinical Investigation.

    Research output: Contribution to journalArticle

  5. 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

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

    Naville, M. , Ishibashi, M. , Ferg, M. , Bengani, H. , 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. , van Heyningen, V. , FitzPatrick, D. R. , Becker, T. S. & 1 others Crollius, H. R. 24 Apr 2015 In : Nature Communications. 6, 9 p., 6904

    Research output: Contribution to journalArticle

  7. 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

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

    Gil-Rodríguez, M. C. , Deardorff, M. A. , Ansari, M. , 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. & 42 others 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., FitzPatrick, D. R. & Pié, J. 5 Feb 2015 In : Human Mutation.

    Research output: Contribution to journalArticle

  9. 2014
  10. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

    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. & 13 others 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., FitzPatrick, D. R., Firth, H. V. & on behalf of the DDD study 16 Dec 2014 In : The Lancet.

    Research output: Contribution to journalArticle

  11. 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

  12. 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

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