Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2017
  2. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

    Low, K. J. , Ansari, M. , Abou Jamra, R. , Clarke, A. , El Chehadeh, S. , FitzPatrick, D. R. , Greenslade, M. , Henderson, A. , Hurst, J. , Keller, K. , Kuentz, P. , Prescott, T. , Roessler, F. , Selmer, K. K. , Schneider, M. C. , Stewart, F. , Tatton-Brown, K. , Thevenon, J. , Vigeland, M. D. , Vogt, J. & 4 others Willems, M., Zonana, J., Study, D. D. D. & Smithson, S. F. May 2017 In : European Journal of Human Genetics. 25, 5, p. 552-559 8 p.

    Research output: Contribution to journalArticle

  3. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    Jansen, S. , Geuer, S. , Pfundt, R. , Brough, R. , Ghongane, P. , Herkert, J. C. , Marco, E. J. , Willemsen, M. H. , Kleefstra, T. , Hannibal, M. , Shieh, J. T. , Lynch, S. A. , Flinter, F. , FitzPatrick, D. R. , Gardham, A. , Bernhard, B. , Ragge, N. , Newbury-Ecob, R. , Bernier, R. , Kvarnung, M. & 10 others Magnusson, E. A. H., Wessels, M. W., van Slegtenhorst, M. A., Monaghan, K. G., de Vries, P., Veltman, J. A., Lord, C. J., Vissers, L. E. L. M., de Vries, B. B. A. & Deciphering Developmental Disorders Study 6 Apr 2017 In : American Journal of Human Genetics. 100, 4, p. 650-658 9 p.

    Research output: Contribution to journalArticle

  4. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Symonds, J. D. , Joss, S. , Metcalfe, K. A. , Somarathi, S. , Cruden, J. , Devlin, A. M. , Donaldson, A. , DiDonato, N. , Fitzpatrick, D. , Kaiser, F. J. , Lampe, A. K. , Lees, M. M. , McLellan, A. , Montgomery, T. , Mundada, V. , Nairn, L. , Sarkar, A. , Schallner, J. , Pozojevic, J. , Parenti, I. & 5 others Tan, J., Turnpenny, P., Whitehouse, W. P., Zuberi, S. M. & DDD Study Apr 2017 In : Epilepsia. 58, 4, p. 565-575 11 p.

    Research output: Contribution to journalArticle

  5. Resequencing at scale in neurodevelopmental disorders

    FitzPatrick, D. R. 30 Mar 2017 In : Nature Genetics. 49, 4, p. 488-489 2 p.

    Research output: Contribution to journalReview article

  6. Returning genome sequences to research participants: Policy and practice

    Wright, C. F., Middleton, A., Barrett, J. C., Firth, H. V., FitzPatrick, D. R., Hurles, M. E. & Parker, M. 24 Feb 2017 In : Wellcome Open Research . 2, p. 15

    Research output: Contribution to journalLetter

  7. Prevalence and architecture of de novo mutations in developmental disorders

    Deciphering Developmental Disorders Study, FitzPatrick, D. & Aitken, J. 23 Feb 2017 In : Nature.

    Research output: Contribution to journalArticle

  8. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

    Kharbanda, M., Pilz, D. T., Tomkins, S., Chandler, K., Saggar, A., Fryer, A., McKay, V., Louro, P., Smith, J. C., Burn, J., Kini, U., De Burca, A., FitzPatrick, D. R., Kinning, E. & DDD Study Feb 2017 In : European journal of medical genetics. 60, 2, p. 130-135

    Research output: Contribution to journalArticle

  9. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    Shaw, N. D. , Brand, H. , Kupchinsky, Z. A. , Bengani, H. , Plummer, L. , Jones, T. I. , Erdin, S. , Williamson, K. A. , Rainger, J. , Stortchevoi, A. , Samocha, K. , Currall, B. B. , Dunican, D. S. , Collins, R. L. , Willer, J. R. , Lek, A. , Lek, M. , Nassan, M. , Pereira, S. , Kammin, T. & 58 others Lucente, D., Silva, A., Seabra, C. M., Chiang, C., An, Y., Ansari, M., Rainger, J. K., Joss, S., Smith, J. C., Lippincott, M. F., Singh, S. S., Patel, N., Jing, J. W., Law, J. R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L. A., Brasseur, B., Cesaretti, C., García-Ortiz, J. E., Buitrago, T. P., Silva, O. P., Hoffman, J. D., Mühlbauer, W., Ruprecht, K. W., Loeys, B. L., Shino, M., Kaindl, A. M., Cho, C-H., Morton, C. C., Meehan, R. R., van Heyningen, V., Liao, E. C., Balasubramanian, R., Hall, J. E., Seminara, S. B., Macarthur, D., Moore, S. A., Yoshiura, K-I., Gusella, J. F., Marsh, J. A., Graham, J. M., Lin, A. E., Katsanis, N., Jones, P. L., Crowley, W. F., Davis, E. E., FitzPatrick, D. R. & Talkowski, M. E. Feb 2017 In : Nature Genetics. 49

    Research output: Contribution to journalArticle

  10. Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

    Taylor, R. L., Handley, M. T., Waller, S., Campbell, C., Urquhart, J., Meynert, A. M., Ellingford, J. M., Donnelly, D., Wilcox, G., Lloyd, I. C., Mundy, H., FitzPatrick, D. R., Deshpande, C., Clayton-Smith, J. & Black, G. C. 1 Jan 2017 In : Investigative Ophthalmology & Visual Science. 58, 1, p. 594-603 10 p.

    Research output: Contribution to journalArticle

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