Edinburgh Research Explorer

Yanick Crow

Chair of Genomic Medicine

  1. 2016
  2. Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

    Briggs, T. A., Rice, G. I., Adib, N., Ades, L., Barete, S., Baskar, K., Baudouin, V., Cebeci, A. N., Clapuyt, P., Coman, D., De Somer, L., Finezilber, Y., Frydman, M., Guven, A., Heritier, S., Karall, D., Kulkarni, M. L., Lebon, P., Levitt, D., Le Merrer, M. & 11 others, Linglart, A., Livingston, J. H., Navarro, V., Okenfuss, E., Puel, A., Revencu, N., Scholl-bürgi, S., Vivarelli, M., Wouters, C., Bader-meunier, B. & Crow, Y. J., 1 Apr 2016, In : Journal of Clinical Immunology. 36, 3, p. 220-234

    Research output: Contribution to journalArticle

  3. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

    La Piana, R., Uggetti, C., Roncarolo, F., Vanderver, A., Olivieri, I., Tonduti, D., Helman, G., Balottin, U., Fazzi, E., Crow, Y. J., Livingston, J. & Orcesi, S., 5 Jan 2016, In : Neurology. 86, 1, p. 28-35

    Research output: Contribution to journalArticle

  4. 2015
  5. ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells

    Cuadrado, E., Booiman, T., Van Hamme, J. L., Jansen, M. H., Van Dort, K. A., Vanderver, A., Rice, G. I., Crow, Y. J., Kootstra, N. A., Kuijpers, T. W. & Unutmaz, D. (ed.), 2 Dec 2015, In : PLoS ONE. 10, 12, p. e0143613

    Research output: Contribution to journalArticle

  6. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes

    Bursztejn, A-C., Briggs, T. A., del Toro Duany, Y., Anderson, B. H., O'Sullivan, J., Williams, S. G., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G. I., Hur, S. & Crow, Y. J., Dec 2015, In : British journal of dermatology. 173, 6, p. 1505-13 9 p.

    Research output: Contribution to journalArticle

  7. cGMP-AMP synthase paves the way to autoimmunity: Fig. 1.

    Rodero, M. P. & Crow, Y. J., 20 Oct 2015, In : Proceedings of the National Academy of Sciences (PNAS). 112, 42, p. 12903-12904

    Research output: Contribution to journalReview article

  8. Aicardi–Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

    Cuadrado, E., Vanderver, A., Brown, K. J., Sandza, A., Takanohashi, A., Jansen, M. H., Anink, J., Herron, B., Orcesi, S., Olivieri, I., Rice, G. I., Aronica, E., Lebon, P., Crow, Y. J., Hol, E. M. & Kuijpers, T. W., 1 Oct 2015, In : Annals of the Rheumatic Diseases. 74, 10, p. 1931-1939

    Research output: Contribution to journalArticle

  9. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition

    Vanderver, A., Prust, M., Kadom, N., Demarest, S., Crow, Y. J., Helman, G., Orcesi, S., Piana, R. L., Uggetti, C., Wang, J., Gordisch-dressman, H., Van Der Knaap, M. S. & Livingston, J. H., 1 Sep 2015, In : Journal of Child Neurology. 30, 10, p. 1343-1348

    Research output: Contribution to journalArticle

  10. Aicardi-Goutières syndrome and the type I interferonopathies

    Crow, Y. J. & Manel, N., Jul 2015, In : Nature Reviews Immunology. 15, 7, p. 429-40 12 p.

    Research output: Contribution to journalReview article

  11. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity

    Mathieu, A., Verronese, E., Rice, G. I., Fouyssac, F., Bertrand, Y., Picard, C., Chansel, M., Walter, J. E., Notarangelo, L. D., Butte, M. J., Nadeau, K. C., Csomos, K., Chen, D. J., Chen, K., Delgado, A., Rigal, C., Bardin, C., Schuetz, C., Moshous, D., Reumaux, H. & 20 others, Plenat, F., Phan, A., Zabot, M., Balme, B., Viel, S., Bienvenu, J., Cochat, P., Van Der Burg, M., Caux, C., Kemp, E. H., Rouvet, I., Malcus, C., Méritet, J., Lim, A., Crow, Y. J., Fabien, N., Ménétrier-caux, C., De Villartay, J., Walzer, T. & Belot, A., 1 Jun 2015, In : Journal of Allergy and Clinical Immunology. 135, 6, p. 1578-1588.e5

    Research output: Contribution to journalArticle

  12. Mosaic structural variation in children with developmental disorders

    King, D. A., Jones, W. D., Crow, Y. J., Dominiczak, A. F., Foster, N. A., Gaunt, T. R., Harris, J., Hellens, S. W., Homfray, T., Innes, J., Jones, E. A., Joss, S., Kulkarni, A., Mansour, S., Morris, A. D., Parker, M. J., Porteous, D. J., Shihab, H. A., Smith, B. H., Tatton-Brown, K. & 9 others, Tolmie, J. L., Trzaskowski, M., Vasudevan, P. C., Wakeling, E., Wright, M., Plomin, R., Timpson, N. J., Hurles, M. E. & Deciphering Developmental Disorders Study, 15 May 2015, In : Human Molecular Genetics. 24, 10, p. 2733-45 13 p.

    Research output: Contribution to journalArticle

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