Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2017
  2. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    FitzPatrick, D. R. & 106 others Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M. T., Rosenfeld, J. A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., Regan, B. M., Mo, K., Tam, C., Schneider, A., Hollingsworth, G., Donaldson, A., Canham, N., Blair, E., Kerr, B., Fry, A. E., Thomas, R. H., Shelagh, J., Hurst, J. A., Brittain, H., Blyth, M., Lebel, R. R., Gerkes, E. H., Davis-Keppen, L., Stein, Q., Chung, W. K., Dorison, S. J., Benke, P. J., Fassi, E., Corsten-Janssen, N., Kamsteeg, E-J., Mau-Them, F. T., Bruel, A-L., Verloes, A., Õunap, K., Wojcik, M. H., Albert, D. V. F., Venkateswaran, S., Ware, T., Jones, D., Liu, Y-C., Mohammad, S. S., Bizargity, P., Bacino, C. A., Leuzzi, V., Martinelli, S., Dallapiccola, B., Tartaglia, M., Blumkin, L., Wierenga, K. J., Purcarin, G., O'Byrne, J. J., Stockler, S., Lehman, A., Keren, B., Nougues, M-C., Mignot, C., Auvin, S., Nava, C., Hiatt, S. M., Bebin, M., Shao, Y., Scaglia, F., Lalani, S. R., Frye, R. E., Jarjour, I. T., Jacques, S., Boucher, R-M., Riou, E., Srour, M., Carmant, L., Lortie, A., Major, P., Diadori, P., Dubeau, F., D'Anjou, G., Bourque, G., Berkovic, S. F., Sadleir, L. G., Campeau, P. M., Kibar, Z., Lafrenière, R. G., Girard, S. L., Mercimek-Mahmutoglu, S., Boelman, C., Rouleau, G. A., Scheffer, I. E., Mefford, H. C., Andrade, D. M., Rossignol, E., Minassian, B. A., Michaud, J. L. & Deciphering Developmental Disorders Study 2 Nov 2017 In : American Journal of Human Genetics. 101, 5, p. 664-685 22 p.

    Research output: Contribution to journalArticle

  3. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

    Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., FitzPatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E., Sobreira, N. L. M. & Moebius Syndrome Research Consortium 18 Sep 2017 In : American Journal of Medical Genetics Part A. 173, 10

    Research output: Contribution to journalArticle

  4. Clinical and Molecular Consequences of Disease-Associated De Novo Mutations in SATB2

    UK10K Consortium, DDD study & FitzPatrick, D. 19 Aug 2017 In : Genetics in medicine.

    Research output: Contribution to journalArticle

  5. Phenotypes and genotypes in individuals with SMC1A variants

    FitzPatrick, D. & 47 others Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C. 1 Aug 2017 In : American Journal of Medical Genetics Part A. 173, 8, p. 2108-2125 18 p.

    Research output: Contribution to journalArticle

  6. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

    Rainger, J., Williamson, K. A., Soares, D., Truch, J., Thekkedath Kurian, D., Gillessen-Kaesbach, G., Seawright, A., Prendergast, J., Halachev, M., Wheeler, A., McTeir, L., Gill, A., Van Heyningen, V., Davey, M., UK10K & FitzPatrick, D. Aug 2017 In : Human Mutation. 38, 8, p. 942-946

    Research output: Contribution to journalArticle

  7. Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

    Moss, J., Penhallow, J., Ansari, M., Barton, S., Bourn, D., FitzPatrick, D. R., Goodship, J., Hammond, P., Roberts, C., Welham, A. & Oliver, C. Jun 2017 In : American Journal of Medical Genetics Part A. 173, 6, p. 1566-1574 9 p.

    Research output: Contribution to journalArticle

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

    Ansari, M. , FitzPatrick, D. R. & 22 others Low, K. J., Abou Jamra, R., Clarke, A., El Chehadeh, S., 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., 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

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

    FitzPatrick, D. R. & 29 others 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., Gardham, A., Bernhard, B., Ragge, N., Newbury-Ecob, R., Bernier, R., Kvarnung, M., 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

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

    Fitzpatrick, D. & 24 others Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., DiDonato, N., 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., 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

  11. 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

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