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

  13. Predicting renal disease progression in a large contemporary cohort with type 1 diabetes mellitus

    Scottish Diabetes Research Network (SDRN) Type 1 Bioresource Investigators and the Scottish Renal Registry, 5 Dec 2019, In : Diabetologia.

    Research output: Contribution to journalArticle

  14. An epigenetic predictor of death captures multi-modal measures of brain health

    Hillary, R., Stevenson, A., Cox, S., McCartney, D. L., Harris, S., Seeboth, A., Higham, J., Sproul, D., Taylor, A., Redmond, P., Corley, J., Pattie, A., Valdes Hernandez, M., Muñoz Maniega, S., Bastin, M., Wardlaw, J., Horvath, S., Ritchie, C., Spires-Jones, T., McIntosh, A. & 3 others, Evans, K., Deary, I. & Marioni, R., 3 Dec 2019, In : Molecular Psychiatry.

    Research output: Contribution to journalArticle

  15. Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936

    Hillary, R., McCartney, D. L., Harris, S., Stevenson, A., Seeboth, A., Zhang, Q., Liewald, D., Evans, K., Ritchie, C., Tucker-Drob, E. M., Wray, N. R., Mcrae, A. F., Visscher, P. M., Deary, I. & Marioni, R., Dec 2019, In : Nature Communications. 10, 3160.

    Research output: Contribution to journalArticle

  16. The role of neuroticism in self-harm and suicidal ideation: Results from two UK population-based cohorts

    Hafferty, J. D., Navrady, L. B., Adams, M. J., Howard, D. M., Campbell, A. I., Whalley, H. C., Lawrie, S. M., Nicodemus, K. K., Porteous, D. J., Deary, I. J. & Mcintosh, A. M., Dec 2019, In : Social psychiatry and psychiatric epidemiology. 54, 12, p. 1505-1518

    Research output: Contribution to journalArticle

  17. Childhood intelligence attenuates the association between biological ageing and health outcomes in later life

    Stevenson, A., McCartney, D. L., Hillary, R., Redmond, P., Taylor, A., Zhang, Q., McRae, A., Spires-Jones, T., McIntosh, A., Deary, I. & Marioni, R., 28 Nov 2019, In : Translational Psychiatry. 9, 323.

    Research output: Contribution to journalArticle

  18. Cardiac valve involvement in ADAR-related type I interferonopathy

    Crow, Y., Keshavan, N., Barbet, J. P., Bercu, G., Bondet, V., Boussard, C., Dedieu, N., Duffy, D., Hully, M., Giardini, A., Gitiaux, C., Rice, G. I., Seabra, L., Bader-Meunier, B. & Rahman, S., 26 Nov 2019, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  19. Comparative analysis of small RNAs released by the filarial nematode Litomosoides sigmodontis in vitro and in vivo

    Quintana, J., Kumar, S., Ivens, A., Chow, F. W. N., Hoy, A., Fulton, A., Dickinson, P., Martin, C., Taylor, M., Babayan, S. & Buck, A., 26 Nov 2019, In : PLoS Neglected Tropical Diseases.

    Research output: Contribution to journalArticle

  20. PSMB10, the last immunoproteasome gene missing for PRAAS

    Sarrabay, G., Méchin, D., Salhi, A., Boursier, G., Rittore, C., Crow, Y., Rice, G. I., Tran, T. A., Cezar, R., Duffy, D., Bondet, V., Boudhane, L., Broca, C., Kant, B. P., Van Gijn, M. E., Grandemange, S., Richard, E., Apparailly, F. & Touitou, I., 26 Nov 2019, In : Journal of Allergy and Clinical Immunology.

    Research output: Contribution to journalArticle

  21. DNA methylation Aging Clocks: Challenges & Recommendations

    Bell, C. G., Lowe, R., Adams, P. D., Baccarelli, A. A., Beck, S., Bell, J. T., Christensen, B. C., Gladyshev, V. N., Heijmans, B. T., Horvath, S., Ideker, T., Issa, J-P. J., Kelsey, K. T., Marioni, R., Reik, W., Relton, C. L., Schalkwyk, L. C., Teschendorff, A. E., Wagner, W., Zhang, K. & 1 others, Rakyan, V. K., 25 Nov 2019, In : Genome Biology.

    Research output: Contribution to journalArticle

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