Edinburgh Research Explorer

Institute of Genetics and Molecular Medicine

Organisational unit: Research Institute

  1. 2020
  2. Defining the clinical phenotype of Saul-Wilson syndrome

    Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., Tiller, G. E., Wolfe, L. A., Merideth, M., Carvalho, D. R., Duker, A. L., Bratke, H., Haug, M. G., Rohena, L., Hove, H. B., Xia, Z-J., Ng, B. G., Freeze, H. H., Gabriel, M., Russi, A. H. S. & 11 others, Brick, L., Kozenko, M., Earl, D. L., Tham, E., Nishimura, G., Phillips, J. A., Gahl, W. A., Hamid, R., Jackson, A., Grigelioniene, G. & Bober, M. B., 17 Jan 2020, In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  3. Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function

    Findlay, A., McKie, L., Keighren, M., Clementson-Mobbs, S., Sanchez-Pulido, L., Wells, S., Cross, S. & Jackson, I., 16 Jan 2020, In : Scientific Reports.

    Research output: Contribution to journalArticle

  4. Probiotic Bacillus subtilis Protects against α-Synuclein Aggregation in C. elegans

    Goya, M. E., Xue, F., Sampedro-torres-quevedo, C., Arnaouteli, S., Riquelme-dominguez, L., Romanowski, A., Brydon, J., Ball, K. L., Stanley-wall, N. R. & Doitsidou, M., 14 Jan 2020, In : Cell Reports. 30, 2, p. 367-380.e7

    Research output: Contribution to journalArticle

  5. 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

  6. 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

  7. 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

  8. Hap2–Ino80-facilitated transcription promotes de novo establishment of CENP-A chromatin

    Singh, P. P., Shukla, M., White, S. A., Lafos, M., Tong, P., Auchynnikava, T., Spanos, C., Rappsilber, J., Pidoux, A. L. & Allshire, R. C., 9 Jan 2020, In : Genes & Development.

    Research output: Contribution to journalArticle

  9. Comparison of serum and urinary biomarker panels with albumin/creatinine ratio in the prediction of renal function decline in type 1 diabetes

    Scottish Diabetes Research Network (SDRN) Type 1 Bioresource Investigators, 8 Jan 2020, In : Diabetologia.

    Research output: Contribution to journalArticle

  10. 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

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