Edinburgh Research Explorer

Centre for Genomic and Experimental Medicine

Organisational unit: Research Centre

  1. 2020
  2. Attitudes to ageing, biomarkers of ageing and mortality: the Lothian Birth Cohort 1936

    McLachlan, K., Cole, J., Harris, S., Marioni, R., Deary, I. & Gale, C., 13 Jan 2020, (Accepted/In press) In : Journal of Epidemiology & Community Health.

    Research output: Contribution to journalArticle

  3. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

    Belot, A., Rice, G. I., Ommar Omarjee, S., Rouchon, Q., Smith, E. MD., Moreews, M., Tusseau, M., Frachette, C., Bournhonesque, R., Thielens, N., Gaboriaud, C., Rouvet, I., Chopin, E., Hoshino, A., Latour, S., Ranchin, B., Cimaz, R., Romagnani, P., Malcus, C., Fabien, N. & 22 others, Sarda, M. N., Kassai, B., Lega, J-C., Decramer, S., Aboujaoude, P., Bruce, I. N., Simonet, T., Bardel, C., Rollat-Farnier, P. A., Sebastien, V., Reumaux, H., O'Sullivan, J., Walzer, T., Mathieu, A-L., Marenne, G., Ludwig, T., Genin, E., Ellingford, J. M., Bader-Meunier, B., Briggs, T. A., Beresford, M. W. & Crow, Y., 13 Jan 2020, In : The Lancet Rheumatology.

    Research output: Contribution to journalArticle

  4. Spatial transcriptomics identifies spatially dysregulated expression of GRM3 and USP47 in amyotrophic lateral sclerosis

    Gregory, J. M., McDade, K., Livesey, M. R., Croy, I., Marion de Proce, S., Aitman, T., Chandran, S. & Smith, C., 10 Jan 2020, In : Neuropathology and Applied Neurobiology.

    Research output: Contribution to journalArticle

  5. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F-G. & 43 others, De Giorgis, V., Denecke, J., Doummar, D., Drake Af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M-C., Oppermann, I., Pérez-Dueñas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S. & Crow, Y. J., 3 Jan 2020, In : Human Mutation.

    Research output: Contribution to journalArticle

  6. Neuromyelitis optica in patients with increased interferon alpha concentrations

    Williams, J., Mcglasson, S., Irani, S., Duffy, D., Crow, Y., Hunt, D., Katy, M., Robert, W., Andrew P, J., Alexa, J., Mathieu, R., Vincent, B., Anu, J., Shahd, H., Nuno, C., Ondrej, D., Patrick, S., Stewart, W., Joanna, W., Christina, H. & 1 others, Adrian, H., 1 Jan 2020, In : The Lancet Neurology. 19, 1, p. 31-33

    Research output: Contribution to journalLetter

  7. 2019
  8. An epigenome-wide association study of sex-specific chronological ageing

    McCartney, D., Zhang, F., Hillary, R., Zhang, Q., Stevenson, A., Walker, R., Bermingham, M., Boutin, T., Morris, S., Campbell, A., Murray, A., Whalley, H., Porteous, D., Hayward, C., Evans, K., Chandra, T., Deary, I., McIntosh, A., Yang, J., Visscher, P. & 2 others, McRae, A. & Marioni, R., 31 Dec 2019, In : Genome Biology. 12, 1.

    Research output: Contribution to journalArticle

  9. Neurology-related protein biomarkers are associated with cognitive ability and brain volume in older age

    Harris, S., Cox, S., Bell, S., Marioni, R., Prins, B. P., Pattie, A., Corley, J., Muñoz Maniega, S., Valdes Hernandez, M., Morrison, Z., John, S. L., Bronson, P. G., Tucker-Drob, E. M., Starr, J., Bastin, M., Wardlaw, J., Butterworth, A. S. & Deary, I., 20 Dec 2019, (Accepted/In press) In : Nature Communications.

    Research output: Contribution to journalArticle

  10. Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income

    Hill, W. D., Davies, N. M., Ritchie, S. J., Skene, N. G., Bryois, J., Bell, S., Di Angelantonio, E., Roberts, D. J., Xueyi, S., Davies, G., Liewald, D. C. M., Porteous, D. J., Hayward, C., Butterworth, A. S., Mcintosh, A. M., Gale, C. R. & Deary, I. J., 16 Dec 2019, In : Nature Communications. 10, 1

    Research output: Contribution to journalArticle

  11. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

    Duncan, C. J. A., Thompson, B., Chen, R., Rice, G. I., Gothe, F., Young, D. F., Lovell, S. C., Shuttleworth, V. G., Brocklebank, V., Corner, B., Skelton, A. J., Bondet, V., Coxhead, J., Duffy, D., Fourrage, C., Livingston, J. H., Pavaine, J., Cheesman, E., Bitetti, S., Grainger, A. & 18 others, Acres, M., Innes, B. A., Mikulasova, A., Sun, R., Hussain, R., Wright, R., Wynn, R., Zarhrate, M., Zeef, L. A. H., Wood, K. M., Hughes, S. M., Harris, C. L., Engelhardt, K. R., Crow, Y., Randall, R. E., Kavanagh, D., Hambleton, S. & Briggs, T. A., 13 Dec 2019, In : Science Immunology.

    Research output: Contribution to journalArticle

  12. Insights into the genetic basis of retinal detachment

    UK Biobank Eye & Vision Consortium, 9 Dec 2019, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

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