Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2016
  2. Clinical and genetic aspects of KBG syndrome

    Low, K. , Ashraf, T. , Canham, N. , Clayton-Smith, J. , Deshpande, C. , Donaldson, A. , Fisher, R. , Flinter, F. , Foulds, N. , Fryer, A. , Gibson, K. , Hayes, I. , Hills, A. , Holder, S. , Irving, M. , Joss, S. , Kivuva, E. , Lachlan, K. , Magee, A. , McConnell, V. & 10 others McEntagart, M., Metcalfe, K., Montgomery, T., Newbury-Ecob, R., Stewart, F., Turnpenny, P., Vogt, J., FitzPatrick, D., Williams, M. & Smithson, S. 1 Nov 2016 In : American Journal of Medical Genetics Part A. 170, 11, p. 2835-2846 12 p.

    Research output: Contribution to journalArticle

  3. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

    Gorman, K. M., Lynch, S. A., Schneider, A., Grange, D. K., Williamson, K. A., FitzPatrick, D. R. & King, M. D. Nov 2016 In : American Journal of Medical Genetics Part A. 170, 11

    Research output: Contribution to journalLetter

  4. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

    Sifrim, A. , Hitz, M-P. , Wilsdon, A. , Breckpot, J. , Turki, S. H. A. , Thienpont, B. , McRae, J. , Fitzgerald, T. W. , Singh, T. , Swaminathan, G. J. , Prigmore, E. , Rajan, D. , Abdul-Khaliq, H. , Banka, S. , Bauer, U. M. M. , Bentham, J. , Berger, F. , Bhattacharya, S. , Bu'Lock, F. , Canham, N. & 31 others Colgiu, I-G., Cosgrove, C., Cox, H., Daehnert, I., Daly, A., Danesh, J., Fryer, A., Gewillig, M., Hobson, E., Hoff, K., Homfray, T., Kahlert, A-K., Ketley, A., Kramer, H-H., Lachlan, K., Lampe, A. K., Louw, J. J., Manickara, A. K., Manase, D., McCarthy, K. P., Metcalfe, K., Moore, C., Newbury-Ecob, R., Omer, S. O., Ouwehand, W. H., Park, S-M., Parker, M. J., Pickardt, T., Pollard, M. O., FitzPatrick, D. R. & INTERVAL Study Sep 2016 In : Nature Genetics. 48, 9, p. 1060-5 6 p.

    Research output: Contribution to journalArticle

  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    Boldt, K. , Van Reeuwijk, J. , Lu, Q. , Koutroumpas, K. , Nguyen, T. M. T. , Texier, Y. , Van Beersum, S. E. C. , Horn, N. , Willer, J. R. , Mans, D. A. , Dougherty, G. , Lamers, I. J. C. , Coene, K. L. M. , Arts, H. H. , Betts, M. J. , Beyer, T. , Bolat, E. , Gloeckner, C. J. , Haidari, K. , Hetterschijt, L. & 76 others Iaconis, D., Jenkins, D., Klose, F., Knapp, B., Latour, B., Letteboer, S. J. F., Marcelis, C. L., Mitic, D., Morleo, M., Oud, M. M., Riemersma, M., Rix, S., Terhal, P. A., Toedt, G., Van Dam, T. J. P., De Vrieze, E., Wissinger, Y., Wu, K. M., Al-Turki, S., Anderson, C., Antony, D., Barroso, I., Bentham, J., Bhattacharya, S., Carss, K., Chatterjee, K., Cirak, S., Cosgrove, C., Danecek, P., Durbin, R., Fitzpatrick, D., Floyd, J., Foley, A. R., Franklin, C., Futema, M., Humphries, S. E., Hurles, M., Joyce, C., McCarthy, S., Mitchison, H. M., Muddyman, D., Muntoni, F., O'Rahilly, S., Onoufriadis, A., Payne, F., Plagnol, V., Raymond, L., Savage, D. B., Scambler, P., Schmidts, M., Schoenmakers, N., Semple, R., Serra, E., Stalker, J., Van Kogelenberg, M., Vijayarangakannan, P., Walter, K., Whittall, R., Williamson, K., Apic, G., Beales, P. L., Blacque, O. E., Gibson, T. J., Huynen, M. A., Katsanis, N., Kremer, H., Omran, H., Van Wijk, E., Wolfrum, U., Kepes, F., Davis, E. E., Franco, B., Giles, R. H., Ueffing, M., Russell, R. B. & Roepman, R. 13 May 2016 In : Nature Communications. 7, 11491

    Research output: Contribution to journalArticle

  6. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

    Ansari, M. , Rainger, J. , Hanson, I. M. , Williamson, K. A. , Sharkey, F. , Harewood, L. , Sandilands, A. , Clayton-Smith, J. , Dollfus, H. , Bitoun, P. , Meire, F. , Fantes, J. , Franco, B. , Lorenz, B. , Taylor, D. S. , Stewart, F. , Willoughby, C. E. , McEntagart, M. , Khaw, P. T. , Clericuzio, C. & 33 others Van Maldergem, L., Williams, D., Newbury-Ecob, R., Traboulsi, E. I., Silva, E. D., Madlom, M. M., Goudie, D. R., Fleck, B. W., Wieczorek, D., Kohlhase, J., McTrusty, A. D., Gardiner, C., Yale, C., Moore, A. T., Russell-Eggitt, I., Islam, L., Lees, M., Beales, P. L., Tuft, S. J., Solano, J. B., Splitt, M., Hertz, J. M., Prescott, T. E., Shears, D. J., Nischal, K. K., Doco-Fenzy, M., Prieur, F., Temple, I. K., Lachlan, K. L., Damante, G., Morrison, D. A., van Heyningen, V. & FitzPatrick, D. R. 28 Apr 2016 In : PLoS One. 11, 4, e0153757

    Research output: Contribution to journalArticle

  7. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant Negative Effect

    Rainger, J., DDD Study, Van Heyningen, V., Marsh, J., Elmslie, F. & FitzPatrick, D. 21 Apr 2016 In : American Journal of Human Genetics. 98, 5, p. 981-992

    Research output: Contribution to journalArticle

  8. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

    DDD study & Abbott, C. 3 Apr 2016 In : Molecular Genetics & Genomic Medicine.

    Research output: Contribution to journalArticle

  9. A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma

    UK10K Consortium 1 Apr 2016 In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  10. 2015
  11. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Akawi, N. , McRae, J. , Ansari, M. , Balasubramanian, M. , Blyth, M. , Brady, A. F. , Clayton, S. , Cole, T. , Deshpande, C. , Fitzgerald, T. W. , Foulds, N. , Francis, R. , Gabriel, G. , Gerety, S. S. , Goodship, J. , Hobson, E. , Jones, W. D. , Joss, S. , King, D. , Klena, N. & 23 others Kumar, A., Lees, M., Lelliott, C., Lord, J., McMullan, D., O'Regan, M., Osio, D., Piombo, V., Prigmore, E., Rajan, D., Rosser, E., Sifrim, A., Smith, A., Swaminathan, G. J., Turnpenny, P., Whitworth, J., Wright, C. F., Firth, H. V., Barrett, J. C., Lo, C. W., FitzPatrick, D. R., Hurles, M. E. & DDD study Nov 2015 In : Nature Genetics. 47, 11, p. 1363-9 7 p.

    Research output: Contribution to journalLetter

  12. 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

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