Edinburgh Research Explorer

Yanick Crow

Chair of Genomic Medicine

  1. 2015
  2. Human Disease Phenotypes Associated With Mutations in TREX1

    Rice, G. I., Rodero, M. P. & Crow, Y. J., 1 Apr 2015, In : Journal of Clinical Immunology. 35, 3, p. 235-243

    Research output: Contribution to journalReview article

  3. Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome

    Kasher, P. R., Jenkinson, E. M., Briolat, V., Gent, D., Morrissey, C., Zeef, L. A. H., Rice, G. I., Levraud, J. & Crow, Y. J., 15 Mar 2015, In : Journal of Immunology. 194, 6, p. 2819-2825 7 p.

    Research output: Contribution to journalArticle

  4. The eukaryotic elongation factor eEF1A1 interacts with SAMHD1

    Morrissey, C., Schwefel, D., Ennis-adeniran, V., Taylor, I. A., Crow, Y. & Webb, M., 15 Feb 2015, In : Biochemical Journal. 466, 1, p. 69-76

    Research output: Contribution to journalArticle

  5. A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

    Rutsch, F., Macdougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., Rice, G., Erlandsen, H., Kehl, H., Thiele, H., Nürnberg, P., Höhne, W., Crow, Y., Feigenbaum, A. & Hennekam, R., 1 Feb 2015, In : American Journal of Human Genetics. 96, 2, p. 275-282

    Research output: Contribution to journalArticle

  6. Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1

    Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-hamid, M. S., Abdel-salam, G. M., Ackroyd, S., Aeby, A., Agosta, G., Albin, C., Allon-shalev, S., Arellano, M., Ariaudo, G., Aswani, V. & 116 others, Babul-hirji, R., Baildam, E. M., Bahi-buisson, N., Bailey, K. M., Barnerias, C., Barth, M., Battini, R., Beresford, M. W., Bernard, G., Bianchi, M., Billette De Villemeur, T., Blair, E. M., Bloom, M., Burlina, A. B., Luisa Carpanelli, M., Carvalho, D. R., Castro-gago, M., Cavallini, A., Cereda, C., Chandler, K. E., Chitayat, D. A., Collins, A. E., Sierra Corcoles, C., Cordeiro, N. J. V., Crichiutti, G., Dabydeen, L., Dale, R. C., D′arrigo, S., De Goede, C. G. E. L., De Laet, C., De Waele, L. M. H., Denzler, I., Desguerre, I., Devriendt, K., Di Rocco, M., Fahey, M. C., Fazzi, E., Ferrie, C. D., Figueiredo, A., Gener, B., Goizet, C., Gowrinathan, N. R., Gowrishankar, K., Hanrahan, D., Isidor, B., Kara, B., Khan, N., King, M. D., Kirk, E. P., Kumar, R., Lagae, L., Landrieu, P., Lauffer, H., Laugel, V., Piana, R. L., Lim, M. J., Lin, J. S., Linnankivi, T., Mackay, M. T., Marom, D. R., Marques Lourenço, C., Mckee, S. A., Moroni, I., Morton, J. E. V., Moutard, M., Murray, K., Nabbout, R., Nampoothiri, S., Nunez-enamorado, N., Oades, P. J., Olivieri, I., Ostergaard, J. R., Pérez-dueñas, B., Prendiville, J. S., Ramesh, V., Rasmussen, M., Régal, L., Ricci, F., Rio, M., Rodriguez, D., Roubertie, A., Salvatici, E., Segers, K. A., Sinha, G. P., Soler, D., Spiegel, R., Stödberg, T. I., Straussberg, R., Swoboda, K. J., Suri, M., Tacke, U., Tan, T. Y., Te Water Naude, J., Wee Teik, K., Mary Thomas, M., Till, M., Tonduti, D., Maria Valente, E., Noel Van Coster, R., Van Der Knaap, M. S., Vassallo, G., Vijzelaar, R., Vogt, J., Wallace, G. B., Wassmer, E., Webb, H. J., Whitehouse, W. P., Whitney, R. N., Zaki, M. S., Zuberi, S. M., Livingston, J. H., Rozenberg, F., Lebon, P., Vanderver, A., Orcesi, S. & Rice, G. I., 1 Feb 2015, In : American Journal of Medical Genetics Part A. 167, 2, p. 296-312

    Research output: Contribution to journalArticle

  7. Type I interferonopathies: mendelian type I interferon up-regulation

    Crow, Y. J., Feb 2015, In : Current Opinion in Immunology. 32, p. 7-12 6 p.

    Research output: Contribution to journalReview article

  8. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

    Zhang, X., Bogunovic, D., Payelle-brogard, B., Francois-newton, V., Speer, S. D., Yuan, C., Volpi, S., Li, Z., Sanal, O., Mansouri, D., Tezcan, I., Rice, G. I., Chen, C., Mansouri, N., Mahdaviani, S. A., Itan, Y., Boisson, B., Okada, S., Zeng, L., Wang, X. & 25 others, Jiang, H., Liu, W., Han, T., Liu, D., Ma, T., Wang, B., Liu, M., Liu, J., Wang, Q. K., Yalnizoglu, D., Radoshevich, L., Uzé, G., Gros, P., Rozenberg, F., Zhang, S., Jouanguy, E., Bustamante, J., García-sastre, A., Abel, L., Lebon, P., Notarangelo, L. D., Crow, Y. J., Boisson-dupuis, S., Casanova, J. & Pellegrini, S., 1 Jan 2015, In : Nature. 517, 7532, p. 89-93

    Research output: Contribution to journalArticle

  9. 2014
  10. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

    Jeremiah, N., Neven, B., Gentili, M., Callebaut, I., Maschalidi, S., Stolzenberg, M., Goudin, N., Frémond, M., Nitschke, P., Molina, T. J., Blanche, S., Picard, C., Rice, G. I., Crow, Y. J., Manel, N., Fischer, A., Bader-meunier, B. & Rieux-laucat, F., 1 Dec 2014, In : Journal of Clinical Investigation. 124, 12, p. 5516-5520

    Research output: Contribution to journalArticle

  11. Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

    Crow, Y., Zaki, M., Abdel-hamid, M., Abdel-salam, G., Boespflug-tanguy, O., Cordeiro, N., Gleeson, J., Gowrinathan, N., Laugel, V., Renaldo, F., Rodriguez, D., Livingston, J. & Rice, G., Dec 2014, In : Neuropediatrics. 45, 06, p. 386-391

    Research output: Contribution to journalArticle

  12. Mutations in CECR1 associated with a neutrophil signature in peripheral blood

    Belot, A., Wassmer, E., Twilt, M., Lega, J., Zeef, L. A., Oojageer, A., Kasher, P. R., Mathieu, A., Malcus, C., Demaret, J., Fabien, N., Collardeau-frachon, S., Mechtouff, L., Derex, L., Walzer, T., Rice, G. I., Durieu, I. & Crow, Y. J., 24 Sep 2014, In : Pediatric Rheumatology. 12, 1, p. 44

    Research output: Contribution to journalArticle