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. 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

  6. 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

  7. 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

  8. 2019
  9. 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

  10. Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance

    Al-Khelaifi, F., Diboun, I., Donati, F., Botrè, F., Abraham, D., Hingorani, A., Albagha, O., Georgakopoulos, C., Suhre, K., Yousri, N. A. & Elrayess, M. A., 27 Dec 2019, In : Scientific Reports. 9, 1, p. 19889

    Research output: Contribution to journalArticle

  11. The effect of DAFNE education, continuous subcutaneous insulin infusion, or both in a population with type 1 diabetes in Scotland

    McKnight, J. A., Ochs, A., Mair, C., McKnight, O., Wright, R., Gibb, F., Cunningham, S. G., Strachan, M., Ritchie, S., McGurnaghan, S. J. & Colhoun, H. M., 23 Dec 2019, In : Diabetic Medicine.

    Research output: Contribution to journalArticle

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. Genetic and shared couple environmental contributions to smoking and alcohol use in the UK population

    Clarke, T., Adams, M. J., Howard, D. M., Xia, C., Davies, G., Hayward, C., Campbell, A., Padmanabhan, S., Smith, B. H., Murray, A., Porteous, D., Deary, I. J. & Mcintosh, A. M., 25 Nov 2019, In : Molecular Psychiatry.

    Research output: Contribution to journalArticle

  26. Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

    Melki, I., Devilliers, H., Gitiaux, C., Bondet, V., Duffy, D., Charuel, J-L., Miyara, M., Bokov, P., Kheniche, A., Kwon, T., Authier, F-J., Allenbach, Y., Belot, A., Bodemer, C., Bourrat, E., Dumaine, C., Fabien, N., Faye, A., Frémond, M-L., Hadchouel, A. & 14 others, Kitabayashi, N., Lepelley, A., Martin-Niclos, M. J., Mudumba, S., Musset, L., Quartier, P., Rice, G. I., Seabra, L., Uettwiller, F., Uggenti, C., Viel, S., Rodero, M. P., Crow, Y. & Bader-Meunier, B., 22 Nov 2019, In : Rheumatology.

    Research output: Contribution to journalArticle

  27. A major role for common genetic variation in anxiety disorders

    Purves, K. L., Coleman, J. R. I., Meier, S. M., Rayner, C., Davis, K. A. S., Cheesman, R., Bækvad-hansen, M., Børglum, A. D., Wan Cho, S., Jürgen Deckert, J., Gaspar, H. A., Bybjerg-grauholm, J., Hettema, J. M., Hotopf, M., Hougaard, D., Hübel, C., Kan, C., Mcintosh, A. M., Mors, O., Bo Mortensen, P. & 6 others, Nordentoft, M., Werge, T., Nicodemus, K. K., Mattheisen, M., Breen, G. & Eley, T. C., 20 Nov 2019, In : Molecular Psychiatry.

    Research output: Contribution to journalArticle

  28. A meta-analysis of genome-wide association studies of epigenetic age acceleration

    Gibson, J., Russ, T., Clarke, T-K., Howard, D., Hillary, R., Evans, K., Walker, R., Bermingham, M., Morris, S., Campbell, A., Hayward, C., Murray, A., Porteous, D., Horvath, S., Lu, A. T., McIntosh, A., Whalley, H. & Marioni, R., 18 Nov 2019, In : PLoS Genetics. 53 p.

    Research output: Contribution to journalArticle

  29. Associations of autozygosity with a broad range of human phenotypes

    Clark, D. W., Okada, Y., Moore, K. H. S., Mason, D., Pirastu, N., Gandin, I., Mattsson, H., Barnes, C. L. K., Lin, K., Zhao, J. H., Deelen, P., Rohde, R., Schurmann, C., Guo, X., Giulianini, F., Zhang, W., Medina-gomez, C., Karlsson, R., Bao, Y., Bartz, T. M. & 416 others, Baumbach, C., Biino, G., Bixley, M. J., Brumat, M., Chai, J., Corre, T., Cousminer, D. L., Dekker, A. M., Eccles, D. A., Van Eijk, K. R., Fuchsberger, C., Gao, H., Germain, M., Gordon, S. D., De Haan, H. G., Harris, S. E., Hofer, E., Huerta-chagoya, A., Igartua, C., Jansen, I. E., Jia, Y., Kacprowski, T., Karlsson, T., Kleber, M. E., Li, S. A., Li-gao, R., Mahajan, A., Matsuda, K., Meidtner, K., Meng, W., Montasser, M. E., Van Der Most, P. J., Munz, M., Nutile, T., Palviainen, T., Prasad, G., Prasad, R. B., Priyanka, T. D. S., Rizzi, F., Salvi, E., Sapkota, B. R., Shriner, D., Skotte, L., Smart, M. C., Smith, A. V., Van Der Spek, A., Spracklen, C. N., Strawbridge, R. J., Tajuddin, S. M., Trompet, S., Turman, C., Verweij, N., Viberti, C., Wang, L., Warren, H. R., Wootton, R. E., Yanek, L. R., Yao, J., Yousri, N. A., Zhao, W., Adeyemo, A. A., Afaq, S., Aguilar-salinas, C. A., Akiyama, M., Albert, M. L., Allison, M. A., Alver, M., Aung, T., Azizi, F., Bentley, A. R., Boeing, H., Boerwinkle, E., Borja, J. B., De Borst, G. J., Bottinger, E. P., Broer, L., Campbell, H., Chanock, S., Chee, M., Chen, G., Chen, Y. I., Chen, Z., Chiu, Y., Cocca, M., Collins, F. S., Concas, M. P., Corley, J., Cugliari, G., Van Dam, R. M., Damulina, A., Daneshpour, M. S., Day, F. R., Delgado, G. E., Dhana, K., Doney, A. S. F., Dörr, M., Doumatey, A. P., Dzimiri, N., Ebenesersdóttir, S. S., Elliott, J., Elliott, P., Ewert, R., Felix, J. F., Fischer, K., Freedman, B. I., Girotto, G., Goel, A., Gögele, M., Goodarzi, M. O., Graff, M., Granot-hershkovitz, E., Grodstein, F., Guarrera, S., Gudbjartsson, D. F., Guity, K., Gunnarsson, B., Guo, Y., Hagenaars, S. P., Haiman, C. A., Halevy, A., Harris, T. B., Hedayati, M., Van Heel, D. A., Hirata, M., Höfer, I., Hsiung, C. A., Huang, J., Hung, Y., Ikram, M. A., Jagadeesan, A., Jousilahti, P., Kamatani, Y., Kanai, M., Kerrison, N. D., Kessler, T., Khaw, K., Khor, C. C., De Kleijn, D. P. V., Koh, W., Kolcic, I., Kraft, P., Krämer, B. K., Kutalik, Z., Kuusisto, J., Langenberg, C., Launer, L. J., Lawlor, D. A., Lee, I., Lee, W., Lerch, M. M., Li, L., Liu, J., Loh, M., London, S. J., Loomis, S., Lu, Y., Luan, J., Mägi, R., Manichaikul, A. W., Manunta, P., Másson, G., Matoba, N., Mei, X. W., Meisinger, C., Meitinger, T., Mezzavilla, M., Milani, L., Millwood, I. Y., Momozawa, Y., Moore, A., Morange, P., Moreno-macías, H., Mori, T. A., Morrison, A. C., Muka, T., Murakami, Y., Murray, A. D., De Mutsert, R., Mychaleckyj, J. C., Nalls, M. A., Nauck, M., Neville, M. J., Nolte, I. M., Ong, K. K., Orozco, L., Padmanabhan, S., Pálsson, G., Pankow, J. S., Pattaro, C., Pattie, A., Polasek, O., Poulter, N., Pramstaller, P. P., Quintana-murci, L., Räikkönen, K., Ralhan, S., Rao, D. C., Van Rheenen, W., Rich, S. S., Ridker, P. M., Rietveld, C. A., Robino, A., Van Rooij, F. J. A., Ruggiero, D., Saba, Y., Sabanayagam, C., Sabater-lleal, M., Sala, C. F., Salomaa, V., Sandow, K., Schmidt, H., Scott, L. J., Scott, W. R., Sedaghati-khayat, B., Sennblad, B., Van Setten, J., Sever, P. J., Sheu, W. H., Shi, Y., Shrestha, S., Shukla, S. R., Sigurdsson, J. K., Sikka, T. T., Singh, J. R., Smith, B. H., Stančáková, A., Stanton, A., Starr, J. M., Stefansdottir, L., Straker, L., Sulem, P., Sveinbjornsson, G., Swertz, M. A., Taylor, A. M., Taylor, K. D., Terzikhan, N., Tham, Y., Thorleifsson, G., Thorsteinsdottir, U., Tillander, A., Tracy, R. P., Tusié-luna, T., Tzoulaki, I., Vaccargiu, S., Vangipurapu, J., Veldink, J. H., Vitart, V., Völker, U., Vuoksimaa, E., Wakil, S. M., Waldenberger, M., Wander, G. S., Wang, Y. X., Wareham, N. J., Wild, S., Yajnik, C. S., Yuan, J., Zeng, L., Zhang, L., Zhou, J., Amin, N., Asselbergs, F. W., Bakker, S. J. L., Becker, D. M., Lehne, B., Bennett, D. A., Van Den Berg, L. H., Berndt, S. I., Bharadwaj, D., Bielak, L. F., Bochud, M., Boehnke, M., Bouchard, C., Bradfield, J. P., Brody, J. A., Campbell, A., Carmi, S., Caulfield, M. J., Cesarini, D., Chambers, J. C., Chandak, G. R., Cheng, C., Ciullo, M., Cornelis, M., Cusi, D., Smith, G. D., Deary, I. J., Dorajoo, R., Van Duijn, C. M., Ellinghaus, D., Erdmann, J., Eriksson, J. G., Evangelou, E., Evans, M. K., Faul, J. D., Feenstra, B., Feitosa, M., Foisy, S., Franke, A., Friedlander, Y., Gasparini, P., Gieger, C., Gonzalez, C., Goyette, P., Grant, S. F. A., Griffiths, L. R., Groop, L., Gudnason, V., Gyllensten, U., Hakonarson, H., Hamsten, A., Van Der Harst, P., Heng, C., Hicks, A. A., Hochner, H., Huikuri, H., Hunt, S. C., Jaddoe, V. W. V., De Jager, P. L., Johannesson, M., Johansson, Å., Jonas, J. B., Jukema, J. W., Junttila, J., Kaprio, J., Kardia, S. L. R., Karpe, F., Kumari, M., Laakso, M., Van Der Laan, S. W., Lahti, J., Laudes, M., Lea, R. A., Lieb, W., Lumley, T., Martin, N. G., März, W., Matullo, G., Mccarthy, M. I., Medland, S. E., Merriman, T. R., Metspalu, A., Meyer, B. F., Mohlke, K. L., Montgomery, G. W., Mook-kanamori, D., Munroe, P. B., North, K. E., Nyholt, D. R., O’connell, J. R., Ober, C., Oldehinkel, A. J., Palmas, W., Palmer, C., Pasterkamp, G. G., Patin, E., Pennell, C. E., Perusse, L., Peyser, P. A., Pirastu, M., Polderman, T. J. C., Porteous, D. J., Posthuma, D., Psaty, B. M., Rioux, J. D., Rivadeneira, F., Rotimi, C., Rotter, J. I., Rudan, I., Den Ruijter, H. M., Sanghera, D. K., Sattar, N., Schmidt, R., Schulze, M. B., Schunkert, H., Scott, R. A., Shuldiner, A. R., Sim, X., Small, N., Smith, J. A., Sotoodehnia, N., Tai, E., Teumer, A., Timpson, N. J., Toniolo, D., Tregouet, D., Tuomi, T., Vollenweider, P., Wang, C. A., Weir, D. R., Whitfield, J. B., Wijmenga, C., Wong, T., Wright, J., Yang, J., Yu, L., Zemel, B. S., Zonderman, A. B., Perola, M., Magnusson, P. K. E., Uitterlinden, A. G., Kooner, J. S., Chasman, D. I., Loos, R. J. F., Franceschini, N., Franke, L., Haley, C. S., Hayward, C., Walters, R. G., Perry, J. R. B., Esko, T., Helgason, A., Stefansson, K., Joshi, P. K., Kubo, M. & Wilson, J. F., 31 Oct 2019, In : Nature Communications. 10, 1

    Research output: Contribution to journalArticle

  30. Use of Ruxolitinib in COPA syndrome manifesting as life-threatening alveolar hemorrhage

    Frémond, M-L., Legendre, M., Fayon, M., Clement, A., Filhol-Blin, E., Richard, N., Berdah, L., Roullaud, S., Rice, G. I., Bondet, V., Duffy, D., Sileo, C., Ducou le Pointe, H., Begueret, H., Coulomb l'Hermine, A., Neven, B., Amselem, S., Crow, Y. & Nathan, N., 30 Oct 2019, In : Thorax.

    Research output: Contribution to journalArticle

  31. Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits

    Tilot, A. K., Vino, A., Kucera, K. S., Carmichael, D. A., van den Heuvel, L., den Hoed, J., Sidoroff-Dorso, A. V., Campbell, A., Porteous, D. J., St Pourcain, B., van Leeuwen, T. M., Ward, J., Rouw, R., Simner, J. & Fisher, S. E., 21 Oct 2019, In : Philosophical Transactions of the Royal Society B: Biological Sciences. 374, 1787, p. 20190026

    Research output: Contribution to journalArticle

  32. Use of personalised risk-based screening schedules to optimise workload and sojourn time in screening programmes for diabetic retinopathy: A retrospective cohort study

    Scottish Diabetes Research Network Epidemiology Group and the Diabetic Retinopathy Screening Collaborative, 17 Oct 2019, In : PLOS Medicine. 16, 10, p. e1002945

    Research output: Contribution to journalArticle

  33. Predicting incident dementia 3-8 years after brief cognitive tests in the UK Biobank prospective study of 500,000 people

    Calvin, C., Wilkinson, T., Starr, J., Sudlow, C., Hagenaars, S., Harris, S., Schnier, C., Davies, G., Fawns-Ritchie, C., Gale, C., Gallacher, J. & Deary, I., 13 Oct 2019, In : Alzheimer's & Dementia.

    Research output: Contribution to journalArticle

  34. Factors associated with stillbirth in women with diabetes

    SDRN Epidemiology Group and Scottish Diabetes Group Pregnancy subgroup , Mackin, S. T., Nelson, S. M., Wild, S., Colhoun, H., Wood, R. & Lindsay, R., 1 Oct 2019, In : Diabetologia.

    Research output: Contribution to journalArticle

  35. Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

    SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium, 30 Sep 2019, In : Journal of the American Society of Nephrology.

    Research output: Contribution to journalArticle

  36. Zoledronate in the prevention of Paget’s (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM-mediated Paget’s disease of bone

    Cronin, O., Forsyth, L., Goodman, K., Lewis, S., Keerie, C., Walker, A., Porteous, M., Cetnarskyj, R., Ranganath, L., Selby, P., Hampson, G., Chandra, R., Ho, S., Tobias, J. & Ralston, S., 4 Sep 2019, In : BMJ Open. 9, 9

    Research output: Contribution to journalArticle

  37. The Genetic Landscape of Scotland and the Isles

    Gilbert, E., O'Reilly, S., Merrigan, M., McGettingan, D., Vitart, V., Joshi, P., Clark, D., Campbell, H., Hayward, C., Ring, S. M., Golding, J., Goodfellow, S., Navarro, P., Kerr, S., Amador, C., Campbell, A., Haley, C., Porteous, D., Cavalleri, G. L. & Wilson, J., 3 Sep 2019, In : Proceedings of the National Academy of Sciences.

    Research output: Contribution to journalArticle

  38. Biomarker panels associated with progression of renal disease in type 1 diabetes

    Colombo, M., Valo, E., McGurnaghan, S., Sandholm, N., Blackbourn, L., Dalton, R. N., Dunger, D. B., Groop, P. H., McKeigue, P., Forsblom, C. & Colhoun, H., 1 Sep 2019, In : Diabetologia.

    Research output: Contribution to journalArticle

  39. Distinct Prosodic Correlates for Nine Dimensions of Mental Health Symptoms

    Wolters, M., Cohen, A. & Nicodemus, K., 31 Aug 2019, Proceedings of the 19th International Congress of Phonetic Sciences ICPhS 2019: 5-9 August 2019, Melbourne, Australia. Calhoun, S., Escudero, P., Tabain, M. & Warren, P. (eds.). Canberra, Australia: Australasian Speech Science and Technology Association Inc.: Australian Speech Science & Technology Association Inc, p. 3001-3005 5 p.

    Research output: Chapter in Book/Report/Conference proceedingConference contribution

  40. Epigenome-wide association study of leukocyte telomere length

    Lee, Y., Sun, D., Ori, A. P. S., Lu, A. T., Seeboth, A., Harris, S., Deary, I., Marioni, R., Soerensen, M., Mengel-From, J., Hjelmborg, J., Christensen, K., Wilson, J. G., Levy, D., Reiner, A. P., Chen, W., Li, S., Harris, J. R., Magnus, P., Aviv, A. & 2 others, Jugessur, A. & Horvath, S., 26 Aug 2019, In : Aging.

    Research output: Contribution to journalArticle

  41. Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing

    Zhang, Q., Vallerga, C. L., Walker, R. M., Lin, T., Henders, A. K., Montgomery, G. W., He, J., Fan, D., Fowdar, J., Kennedy, M., Pitcher, T., Pearson, J., Halliday, G., Kwok, J. B., Hickie, I., Lewis, S., Anderson, T., Silburn, P. A., Mellick, G. D., Harris, S. E. & 13 others, Redmond, P., Murray, A. D., Porteous, D. J., Haley, C. S., Evans, K. L., Mcintosh, A. M., Yang, J., Gratten, J., Marioni, R. E., Wray, N. R., Deary, I. J., Mcrae, A. F. & Visscher, P. M., 23 Aug 2019, In : Genome Medicine. 11, 1, 54.

    Research output: Contribution to journalArticle

  42. Persistent C-peptide secretion in Type 1 diabetes and its relationship to the genetic architecture of diabetes

    McKeigue, P., Spiliopoulou, A., McGurnaghan, S., Colombo, M., Blackbourn, L., McDonald, T. J., Onengut-Gumuscu, S., Rich, S. S., Palmer, C. N. A., McKnight, J., Strachan, M. W. J., Patrick, A., Chalmers, J., Lindsay, R., Petrie, J. R., Thekkepat, S., Collier, A., MacRury, S. & Colhoun, H., 23 Aug 2019, In : BMC Medicine.

    Research output: Contribution to journalArticle

  43. Age-related clonal haematopoiesis is associated with increased epigenetic age

    Robertson, N., Hillary, R., McCartney, D. L., Terradas Terradas, M., Higham, J., Sproul, D., Deary, I., Kirschner, K., Marioni, R. & Chandra, T., 19 Aug 2019, In : Current Biology. 29, 16, p. R786-R787

    Research output: Contribution to journalArticle

  44. DNA methylation-based estimator of telomere length

    Lu, A. T., Seeboth, A., Tsai, P-C., Sun, D., Quach, A., Reiner, A. P., Kooperberg, C., Ferrucci, L., Hou, L., Baccarelli, A. A., Li, Y., Harris, S. E., Corley, J., Taylor, A., Deary, I. J., Stewart, J. D., Whitsel, E. A., Assimes, T. L., Chen, W., Li, S. & 7 others, Mangino, M., Bell, J. T., Wilson, J., Aviv, A., Marioni, R. E., Raj, K. & Horvath, S., 18 Aug 2019, In : Aging. 11

    Research output: Contribution to journalArticle

  45. The role of polygenic risk score gene-set analysis in the context of the omnigenic model of schizophrenia

    Schizophrenia Working Group of the Psychiatric Genomics Consortium 2, Aug 2019, In : Neuropsychopharmacology. 44, 9, p. 1562-1569 8 p.

    Research output: Contribution to journalArticle

  46. Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

    Pajak, A., Laine, I., Clemente, P., El-Fissi, N., Schober, F. A., Maffezzini, C., Calvo-Garrido, J., Wibom, R., Filograna, R., Dhir, A., Wedell, A., Freyer, C. & Wredenberg, A., 31 Jul 2019, In : PLoS Genetics. 15, 7, p. e1008240

    Research output: Contribution to journalArticle

  47. An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

    Kerr, S., Klaric, L., Halachev, M., Hayward, C., Boutin, T., Meynert, A., Semple, C., Tuiskula, A. M., Swan, H., Santoyo-Lopez, J., Vitart, V., Haley, C., Dean, J., Miedzybrodzka, Z., Aitman, T. & Wilson, J., 29 Jul 2019, In : Scientific Reports. 9, 10964.

    Research output: Contribution to journalArticle

  48. Conditional deletion of E11/podoplanin in bone protects against load-induced osteoarthritis

    Staines, K., Ikpegbu, E., Tornqvist, A., Dillon, S., Javaheri, B., Amin, A., Clements, D., Buttle, D., Pitsillides, A. A. & Farquharson, C., 27 Jul 2019, In : BMC Musculoskeletal Disorders. 20, 344.

    Research output: Contribution to journalArticle

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