Edinburgh Research Explorer

Yanick Crow

Chair of Genomic Medicine

  1. 2020
  2. Leukoencephalopathy with calcifications and cysts: genetic and phenotypic spectrum

    Crow, Y. J., Marshall, H., Rice, G. I., Seabra, L., Jenkinson, E. M., Baranano, K., Battini, R., Berger, A., Blair, E., Blauwblomme, T., Bolduc, F., Boddaert, N., Buckard, J., Burnett, H., Calvert, S., Caumes, R., Ng, A. C., Chiang, D., Clifford, D. B., Cordelli, D. M. & 48 others, Burca, A., Demic, N., Desguerre, I., De Waele, L., Di Fonzo, A., Dunham, S. R., Dyack, S., Elmslie, F., Ferrand, M., Fisher, G., Karimiani, E. G., Ghoumid, J., Gibbon, F., Goel, H., Hilmarsen, H. T., Hughes, I., Jacob, A., Jones, E. A., Kumar, R., Leventer, R. J., Macdonald, S., Maroofian, R., Mehta, S. G., Metz, I., Monfrini, E., Neumann, D., Noetzel, M., O'driscoll, M., Õunap, K., Panzer, A., Parikh, S., Prabhakar, P., Ramond, F., Sandford, R., Saneto, R., Soh, C., Stutterd, C. A., Subramanian, G. M., Talbot, K., Thomas, R. H., Toro, C., Touraine, R., Wakeling, E., Wassmer, E., Whitney, A., Livingston, J. H., O'keefe, R. T. & Badrock, A. P., 7 Oct 2020, In : American Journal of Medical Genetics Part A.

    Research output: Contribution to journalArticle

  3. Adult-onset ANCA-associated vasculitis in SAVI: extension of the phenotypic spectrum, case report and review of the literature

    Staels, F., Betrains, A., Doubel, P., Willemsen, M., Cleemput, V., Vanderschueren, S., Corveleyn, A., Meyts, I., Sprangers, B., Crow, Y. J., Humblet-Baron, S., Liston, A. & Schrijvers, R., 29 Sep 2020, In : Frontiers in Immunology.

    Research output: Contribution to journalArticle

  4. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

    Lepelley, A., Martin-niclós, M. J., Le Bihan, M., Marsh, J. A., Uggenti, C., Rice, G. I., Bondet, V., Duffy, D., Hertzog, J., Rehwinkel, J., Amselem, S., Boulisfane-el Khalifi, S., Brennan, M., Carter, E., Chatenoud, L., Chhun, S., Coulomb L’hermine, A., Depp, M., Legendre, M., Mackenzie, K. J. & 12 others, Marey, J., Mcdougall, C., Mckenzie, K. J., Molina, T. J., Neven, B., Seabra, L., Thumerelle, C., Wislez, M., Nathan, N., Manel, N., Crow, Y. J. & Frémond, M., 28 Jul 2020, In : Journal of Experimental Medicine. 217, 11

    Research output: Contribution to journalArticle

  5. Apparent radiological improvement in an infant with Labrune syndrome treated with bevacizumab

    Martínez-Matilla, M., Ferre-Fernández, J. J., Aparisi, M. J., Marco-Hernández, A. V., Cerón, J. A., Crow, Y. J., Martínez-Castellano, F., Tomas Vila, M. & Pedrola, L., 25 Jul 2020, In : Pediatric Neurology.

    Research output: Contribution to journalArticle

  6. An Indian child with Coats plus syndrome likely due to mutations in STN1

    Rao Passi, G., Shamim, U., Mathur, A., Parveen, S., Sharma, P., Crow, Y. & Faruq, M., 6 Jul 2020, In : American Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  7. Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption

    Ayrolles, A., Ellul, P., Renaldo, F., Boespflug, O., Delorme, R., Drunat, S., Elmaleh-Berges, M., Kwon, T., Rozenberg, F., Bondet, V., Duffy, D., Crow, Y. & Melki, I., 19 Jun 2020, In : Schizophrenia Research.

    Research output: Contribution to journalArticle

  8. Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

    Clarke, S. L. N., Robertson, L., Rice, G. I., Seabra, L., Hilliard, T. N., Crow, Y. & Ramanan, A. V., 12 May 2020, In : Pediatric Rheumatology.

    Research output: Contribution to journalArticle

  9. A 25-year old woman with recurrent episodes of collapse and loss of consciousness

    Wildman, J., Baker, M. R., Price, D. A., Tiwari, S., Kumar, H., Rice, G. I., Crow, Y. & Thomas, R. H., 1 May 2020, In : Neurology.

    Research output: Contribution to journalArticle

  10. Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

    Badrock, A., Uggenti, C., Wacheul, L., Crilly, S., Jenkinson, E. M., Rice, G. I., Kasher, P. R., Lafontaine, D. L. J., Crow, Y. & O'Keefe, R. T., 28 Apr 2020, In : American Journal of Human Genetics.

    Research output: Contribution to journalArticle

  11. Biallelic mutations in NRROS cause an early onset lethal microgliopathy

    Smith, C., McColl, B., Patir, A., Barrington, J., Armishaw, J., Clarke, A., Eaton, J., Hobbs, V., Mansour, S., Nolan, M., Rice, G. I., Rodero, M. P., Seabra, L., Uggenti, C., Livingston, J. H., Bridges, L. R., Jeffrey, I. J. M. & Crow, Y., 25 Feb 2020, In : Acta Neuropathologica.

    Research output: Contribution to journalArticle

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