Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 2018
  2. NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

    Campbell, J., FitzPatrick, D. R., Azam, T., Gibson, N. A., Somerville, L., Joss, S. K., Urquhart, D. S. & Deciphering Developmental Disorders Study 2 Apr 2018 In : Pediatrics. 141, Suppl 5, p. S485-S490

    Research output: Contribution to journalArticle

  3. BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

    Olley, G., Ansari, M., Bengani, H., Grimes, G. R., DDD study, Bickmore, W., Pradeepa, M. M. & FitzPatrick, D. Mar 2018 In : Nature Genetics.

    Research output: Contribution to journalArticle

  4. 2017
  5. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    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. & 31 others Mo, K., Tam, C., Schneider, A., Hollingsworth, G., FitzPatrick, D. R., 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. & 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

  6. Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study

    Mossey, P. A., Little, J., Steegers-Theunissen, R., Molloy, A., Peterlin, B., Shaw, W. C., Johnson, C., FitzPatrick, D. R., Franceschelli, P. & Rubini, M. Nov 2017 In : Cleft Palate Craniofacial Journal.

    Research output: Contribution to journalArticle

  7. 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 Oct 2017 In : American Journal of Medical Genetics Part A. 173, 10

    Research output: Contribution to journalArticle

  8. 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

  9. Phenotypes and genotypes in individuals with SMC1A variants

    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. , FitzPatrick, D. , Gervasini, C. , Gillessen-Kaesbach, G. , Girisha, K. M. , Hilhorst-Hofstee, Y. , Hopman, S. & 28 others 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

  10. 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

  11. 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

  12. 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

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