Edinburgh Research Explorer

Centre for Genomic and Experimental Medicine

Organisational unit: Research Centre

  1. 2020
  2. Socioeconomic status and mortality in people with type 1 diabetes in Scotland 2006-2015: a retrospective cohort study

    Campbell, R. AS., Colhoun, H., Kennon, B., McCrimmon, R. J., Sattar, N., McKnight, J. & Wild, S., 22 Jan 2020, In : Diabetic Medicine. Diabetic Medicine

    Research output: Contribution to journalArticle

  3. Polygenic contributions to alcohol use and alcohol use disorders across population-based and clinically ascertained samples

    Johnson, E. C., Sanchez-roige, S., Acion, L., Adams, M. J., Bucholz, K. K., Chan, G., Chao, M. J., Chorlian, D. B., Dick, D. M., Edenberg, H. J., Foroud, T., Hayward, C., Heron, J., Hesselbrock, V., Hickman, M., Kendler, K. S., Kinreich, S., Kramer, J., Kuo, S. I., Kuperman, S. & 13 others, Lai, D., Mcintosh, A. M., Meyers, J. L., Plawecki, M. H., Porjesz, B., Porteous, D., Schuckit, M. A., Su, J., Zang, Y., Palmer, A. A., Agrawal, A., Clarke, T. & Edwards, A. C., 20 Jan 2020, In : Psychological Medicine . p. 1-10

    Research output: Contribution to journalArticle

  4. 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

  5. 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

  6. 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

  7. 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

  8. Prescreening for European Prevention of Alzheimer Dementia (EPAD) trial-ready cohort: impact of AD risk factors and recruitment settings

    Vermunt, L., Muniz-terrera, G., Ter Meulen, L., Veal, C., Blennow, K., Campbell, A., Carrié, I., Delrieu, J., Fauria, K., Huesa Rodríguez, G., Ingala, S., Jenkins, N., Molinuevo, J. L., Ousset, P., Porteous, D., Prins, N. D., Solomon, A., Tom, B. D., Zetterberg, H., Zwan, M. & 5 others, Ritchie, C. W., Scheltens, P., Luscan, G., Brookes, A. J. & Visser, P. J., 6 Jan 2020, In : Alzheimer's research & therapy. 12, 1

    Research output: Contribution to journalArticle

  9. 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

  10. 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

  11. 2019
  12. 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

  13. 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

  14. Medical management of patients after atypical femur fractures: a systematic review and recommendations from ECTS

    van de Laarschot, D. M., McKenna, M. J., Abrahamsen, B., Langdahl, B., Cohen-Solal, M., Guañabens, N., Eastell, R., Ralston, S. H. & Zillikens, M. C., 23 Dec 2019, In : Journal of Clinical Endocrinology & Metabolism.

    Research output: Contribution to journalArticle

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. Liver-derived IGF-I is not required for protection against osteoarthritis in male mice

    Törnqvist, A. E., Sophocleous, A., Ralston, S. H., Ohlsson, C. & Svensson, J., 6 Dec 2019, In : American Journal of Physiology - Endocrinology And Metabolism. 317, 6, p. E1150-E1157

    Research output: Contribution to journalArticle

  21. 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

  22. 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

  23. 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., 1 Dec 2019, In : Alzheimer's & Dementia.

    Research output: Contribution to journalArticle

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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. 15, 11, 53 p., e1008104.

    Research output: Contribution to journalArticle

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. The relationship between obesity and fractures

    Court-Brown, C. M., Duckworth, A. D., Ralston, S. & McQueen, M. M., Aug 2019, In : Injury. 50, 8, p. 1423-1428 6 p.

    Research output: Contribution to journalArticle

  51. 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

  52. 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

  53. 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

  54. 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

  55. Camk2n1 is a negative regulator of blood pressure, left ventricular mass, insulin sensitivity and promotes adiposity

    Alfazema, N., Barrier, M., Marion de Proce, S., Menzies, R., Nicholas Carter, R., Diaz, A. G., Moyon, B., Webster, Z., Bellamy, C., Arends, M., Stimson, R., Morton, N., Aitman, T. & Coan, P., 22 Jul 2019, In : Hypertension.

    Research output: Contribution to journalArticle

  56. IBD prevalence in Lothian, Scotland, derived by capture-recapture methodology

    Jones, G-R., Lyons, M., Plevris, N., Jenkinson, P. W., Bisset, C., Burgess, C., Din, S., Fulforth, J., Henderson, P., Ho, G-T., Kirkwood, K., Noble, C., Shand, A. G., Wilson, D. C., Arnott, I. D. & Lees, C. W., 11 Jul 2019, In : Gut.

    Research output: Contribution to journalArticle

  57. Factors associated with sharing e-mail information and mental health survey participation in large population cohorts

    Adams, M. J., Hill, W. D., Howard, D. M., Dashti, H. S., Davis, K. A. S., Campbell, A., Clarke, T., Deary, I. J., Hayward, C., Porteous, D., Hotopf, M. & Mcintosh, A. M., 1 Jul 2019, In : International Journal of Epidemiology.

    Research output: Contribution to journalArticle

  58. Development of mouse models of angiosarcoma driven by p53

    Salter, D., Griffin, M., Muir, M., Teo, K., Culley, J., Smith, J., Gomez Cuadrado, L., Matchett, K., Sims, A., Hayward, L., Henderson, N. & Brunton, V., 20 Jun 2019, In : Disease Models & Mechanisms.

    Research output: Contribution to journalArticle

  59. Dulaglutide and cardiovascular outcomes in type 2 diabetes (REWIND): a double-blind, randomised placebo-controlled trial

    REWIND Investigators, 7 Jun 2019, In : The Lancet.

    Research output: Contribution to journalArticle

  60. Dulaglutide and renal outcomes in type 2 diabetes: an exploratory analysis of the REWIND randomised, placebo-controlled trial

    REWIND Investigators, 7 Jun 2019, In : The Lancet.

    Research output: Contribution to journalArticle

  61. Treatments in Aicardi-Goutières syndrome

    Crow, Y. J., Shetty, J. & Livingston, J. H., 7 Jun 2019, In : Developmental medicine and child neurology.

    Research output: Contribution to journalReview article

  62. Correction: GWAS on family history of Alzheimer’s disease

    Marioni, R. E., Harris, S. E., Zhang, Q., Mcrae, A. F., Hagenaars, S. P., Hill, W. D., Davies, G., Ritchie, C. W., Gale, C. R., Starr, J. M., Goate, A. M., Porteous, D. J., Yang, J., Evans, K. L., Deary, I. J., Wray, N. R. & Visscher, P. M., 6 Jun 2019, In : Translational Psychiatry. 9, 1

    Research output: Contribution to journalComment/debate

  63. Smoking does not accelerate leucocyte telomere attrition: A meta-analysis of 18 longitudinal cohorts

    Bateson, M., Aviv, A., Bendix, L., Benetos, A., Ben-shlomo, Y., Bojesen, S. E., Cooper, C., Cooper, R., Deary, I. J., Hägg, S., Harris, S. E., Kark, J. D., Kronenberg, F., Kuh, D., Labat, C., Martin-ruiz, C. M., Meyer, C., Nordestgaard, B. G., Penninx, B. W. J. H., Pepper, G. V. & 11 others, Révész, D., Said, M. A., Starr, J. M., Syddall, H., Thomson, W. M., Van Der Harst, P., Whooley, M., Von Zglinicki, T., Willeit, P., Zhan, Y. & Nettle, D., 5 Jun 2019, In : Royal Society Open Science. 6, 190420.

    Research output: Contribution to journalArticle

  64. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

    Portale, A. A., Carpenter, T. O., Brandi, M. L., Briot, K., Cheong, H. I., Cohen-Solal, M., Crowley, R., Jan De Beur, S., Eastell, R., Imanishi, Y., Imel, E. A., Ing, S., Ito, N., Javaid, M., Kamenicky, P., Keen, R., Kubota, T., Lachmann, R., Perwad, F., Pitukcheewanont, P. & 10 others, Ralston, S. H., Takeuchi, Y., Tanaka, H., Weber, T. J., Yoo, H-W., Zhang, L., Theodore-Oklota, C., Mealiffe, M., San Martin, J. & Insogna, K., 4 Jun 2019, In : Calcified Tissue International.

    Research output: Contribution to journalArticle

  65. Cardiovascular disease prevalence and risk factor prevalence in Type 2 diabetes: a contemporary analysis

    McGurnaghan, S., Blackbourn, L. A. K., Mocevic, E., Panton, U. H., McCrimmon, R. J., Sattar, N., Wild, S. & Colhoun, H. M., 1 Jun 2019, In : Diabetic Medicine.

    Research output: Contribution to journalArticle

  66. Insulin resistance: Genetic associations with depression and cognition in population based cohorts

    Frangou, S., Shirali, M., Adams, M. J., Howard, D. M., Gibson, J., Hall, L. S., Smith, B. H., Padmanabhan, S., Murray, A. D., Porteous, D. J., Haley, C. S., Deary, I. J., Clarke, T. & Mcintosh, A. M., Jun 2019, In : Experimental neurology. 316, p. 20-26

    Research output: Contribution to journalArticle

  67. Paradoxical effects of JZL184, an inhibitor of monoacylglycerol lipase, on bone remodelling in healthy and cancer-bearing mice

    Marino, S., de Ridder, D., Bishop, R. T., Renema, N., Ponzetti, M., Sophocleous, A., Capulli, M., Aljeffery, A., Carrasco, G., Gens, M. D., Khogeer, A., Ralston, S. H., Gertsch, J., Lamoureux, F., Heymann, D., Rucci, N. & Idris, A. I., Jun 2019, In : EBioMedicine. 44, p. 452-466 15 p.

    Research output: Contribution to journalArticle

  68. Germline selection shapes human mitochondrial DNA diversity

    NIHR BioResource-Rare Dis & 100000 Genomes Project-Rare Dis, 24 May 2019, In : Science. 364, 6442, p. 749-+ 59 p.

    Research output: Contribution to journalArticle

  69. Long term effects of teriparatide followed by antiresorptive therapy on clinical outcomes in patients with severe spinal osteoporosis

    Oswald, A., Berg, K., Ralston, S. & Riches, P., 21 May 2019, In : Calcified Tissue International.

    Research output: Contribution to journalArticle

  70. Glycaemic control trends in people with Type 1 diabetes in Scotland 2004-2016

    Mair, C., Wulaningsih, W., Jeyam, A., McGurnaghan, S., Blackbourn, L., Kennon, B., Leese, G. P., Lindsay, R., McCrimmon, R. J., McKnight, J., Petrie, J. R., Sattar, N., Wild, S., Conway, N., Craigie, I., Robertson, K., Bath, L., McKeigue, P. & Colhoun, H., 18 May 2019, In : Diabetologia.

    Research output: Contribution to journalReview article

  71. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

    Law, P. J., Timofeeva, M., Fernandez-Rozadilla, C., Broderick, P., Studd, J. B., Fernandez-Tajes, J., Farrington, S., Svinti MacLeod, V., Palles, C., Orlando, G., Sud, A., Amy, H., Penegar, S., Theodoratou, E., Vaughan-Shaw, P., Campbell, H., Zgaga, L., Hayward, C., Campbell, A., Harris, S. & 78 others, Deary, I., Starr, J., Laura, G., Pinna, M., Briggs, S., Martin, L., Jaeger, E., Sharma-Oates, A., East, J., Leedham, S., Arnold, R., Johnstone, E., Wang, H., Kerr, D., Kerr, R., Maughan, T., Kaplan, R., Al-Tassan, N. A., Palin, K., Hanninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Eriksson, J., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Ripatti, S., Palotie, A., Renkonen-Sinisalo, L., Lepisto, A., Böhm, J., Mecklin, J-P., Buchanan, D., Win, A. K., Hopper, J. L., Jenkins, M. C., Lindor, N. M., Newcomb, P. A., Gallinger, S., Duggan, D., Casey, G., Hoffman, P., Nöthen, M. M., Jöckel, K-H., Easton, D. F., Pharoah, P. D. P., Peto, J., Canzian, F., Swerdlow, A. J., Eeles, R. A., Kote-Jarai, Z., Muir, K. R., Pashayan, N., Harkin, A., Allan, K., McQueen, J., Paul, J., Iveson, T., Saunders, M. N. K., Butterbach, K., Chang-Claude, J., Hoffmeister, M., Brenner, H., Kirac, I., Matošević, P., Hofer, P., Brezina, S., Gsur, A., Cheadle, J., Aaltonen, L., Tomlinson, I., Houlston, R. S. & Dunlop, M., 14 May 2019, In : Nature Communications.

    Research output: Contribution to journalArticle

  72. Epigenome-wide association study of lung function level and its change

    Imboden, M., Wielscher, M., Rezwan, F. I., Amaral, A. F. S., Schaffner, E., Jeong, A., Beckmeyer-Borowko, A., Harris, S., Starr, J., Deary, I., Flexeder, C., Waldenberger, M., Peters, A., Schulz, H., Chen, S., Shadia Khan, S., Karmaus, W. J. J., Jiang, Y., Erhart, G., Kronenberg, F. & 19 others, Arathimos, R., Sharp, G. C., Henderson, A. J., Fu, Y., Piirilä, P., Pietiläinen, K. H., Ollikainen, M., Johansson, A., Gyllensten, U., de Vries, M., van der Plaat, D. A., de Jong, K., Boezen, H. M., Hall, I. P., Tobin, M. D., Jarvelin, M-R., Holloway, J. W., Jarvis, D. L. & Probst-Hensch, N. M., 9 May 2019, In : European Respiratory Journal. 53, 5

    Research output: Contribution to journalArticle

  73. Point-of-care uric acid testing is useful in routine clinical care of gout

    Riches, P. L., Sing, K. & Berg, K., 9 May 2019, In : Arthritis research & therapy. 21, 1, p. 117

    Research output: Contribution to journalArticle

  74. Biallelic variants in DNA2 cause microcephalic primordial dwarfism

    Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., Bober, M. B., Silva, D. C., Duker, A. L., Sillence, D., Wise, C., Jackson, A. P., Murina, O. & Reijns, M. A. M., 2 May 2019, In : Human Mutation.

    Research output: Contribution to journalArticle

  75. Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

    Davies, G., Lam, M., Harris, S. E., Trampush, J. W., Luciano, M., Hill, W. D., Hagenaars, S. P., Ritchie, S. J., Marioni, R. E., Fawns-Ritchie, C., Liewald, D. C. M., Okely, J. A., Ahola-Olli, A. V., Barnes, C. L. K., Bertram, L., Bis, J. C., Burdick, K. E., Christoforou, A., DeRosse, P., Djurovic, S. & 202 others, Espeseth, T., Giakoumaki, S., Giddaluru, S., Gustavson, D. E., Hayward, C., Hofer, E., Ikram, M. A., Karlsson, R., Knowles, E., Lahti, J., Leber, M., Li, S., Mather, K. A., Melle, I., Morris, D., Oldmeadow, C., Palviainen, T., Payton, A., Pazoki, R., Petrovic, K., Reynolds, C. A., Sargurupremraj, M., Scholz, M., Smith, J. A., Smith, A. V., Terzikhan, N., Thalamuthu, A., Trompet, S., van der Lee, S. J., Ware, E. B., Windham, B. G., Wright, M. J., Yang, J., Yu, J., Ames, D., Amin, N., Amouyel, P., Andreassen, O. A., Armstrong, N. J., Assareh, A. A., Attia, J. R., Attix, D., Avramopoulos, D., Bennett, D. A., Böhmer, A. C., Boyle, P. A., Brodaty, H., Campbell, H., Cannon, T. D., Cirulli, E. T., Congdon, E., Conley, E. D., Corley, J., Cox, S. R., Dale, A. M., Dehghan, A., Dick, D., Dickinson, D., Eriksson, J. G., Evangelou, E., Faul, J. D., Ford, I., Freimer, N. A., Gao, H., Giegling, I., Gillespie, N. A., Gordon, S. D., Gottesman, R. F., Griswold, M. E., Gudnason, V., Harris, T. B., Hartmann, A. M., Hatzimanolis, A., Heiss, G., Holliday, E. G., Joshi, P. K., Kähönen, M., Kardia, S. L. R., Karlsson, I., Kleineidam, L., Knopman, D. S., Kochan, N. A., Konte, B., Kwok, J. B., Le Hellard, S., Lee, T., Lehtimäki, T., Li, S-C., Lill, C. M., Liu, T., Koini, M., London, E., Longstreth, W. T., Lopez, O. L., Loukola, A., Luck, T., Lundervold, A. J., Lundquist, A., Lyytikäinen, L-P., Martin, N. G., Montgomery, G. W., Murray, A. D., Need, A. C., Noordam, R., Nyberg, L., Ollier, W., Papenberg, G., Pattie, A., Polasek, O., Poldrack, R. A., Psaty, B. M., Reppermund, S., Riedel-Heller, S. G., Rose, R. J., Rotter, J. I., Roussos, P., Rovio, S. P., Saba, Y., Sabb, F. W., Sachdev, P. S., Satizabal, C. L., Schmid, M., Scott, R. J., Scult, M. A., Simino, J., Slagboom, P. E., Smyrnis, N., Soumaré, A., Stefanis, N. C., Stott, D. J., Straub, R. E., Sundet, K., Taylor, A. M., Taylor, K. D., Tzoulaki, I., Tzourio, C., Uitterlinden, A., Vitart, V., Voineskos, A. N., Kaprio, J., Wagner, M., Wagner, H., Weinhold, L., Wen, K. H., Widen, E., Yang, Q., Zhao, W., Adams, H. H. H., Arking, D. E., Bilder, R. M., Bitsios, P., Boerwinkle, E., Chiba-Falek, O., Corvin, A., De Jager, P. L., Debette, S., Donohoe, G., Elliott, P., Fitzpatrick, A. L., Gill, M., Glahn, D. C., Hägg, S., Hansell, N. K., Hariri, A. R., Ikram, M. K., Jukema, J. W., Vuoksimaa, E., Keller, M. C., Kremen, W. S., Launer, L., Lindenberger, U., Palotie, A., Pedersen, N. L., Pendleton, N., Porteous, D. J., Räikkönen, K., Raitakari, O. T., Ramirez, A., Reinvang, I., Rudan, I., Dan Rujescu, Schmidt, R., Schmidt, H., Schofield, P. W., Schofield, P. R., Starr, J. M., Steen, V. M., Trollor, J. N., Turner, S. T., Van Duijn, C. M., Villringer, A., Weinberger, D. R., Weir, D. R., Wilson, J. F., Malhotra, A., McIntosh, A. M., Gale, C. R., Seshadri, S., Mosley, T. H., Bressler, J., Lencz, T. & Deary, I. J., 1 May 2019, In : Nature Communications. 10, 1, p. 2068

    Research output: Contribution to journalArticle

  76. Exposure to the antimicrobial peptide LL-37 produces dendritic cells optimized for immunotherapy

    Findlay, E. G., Currie, A. J., Zhang, A., Ovciarikova, J., Young, L., Stevens, H., Mchugh, B. J., Canel, M., Gray, M., Milling, S. W. F., Campbell, J. D. M., Savill, J., Serrels, A. & Davidson, D. J., 1 May 2019, In : OncoImmunology. p. 1-17

    Research output: Contribution to journalArticle

  77. Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits

    Grotzinger, A., Rhemtulla, M., Vlaming, R. D., Ritchie, S. J., Mallard, T. T., Hill, W. D., Hill, F., Marioni, R., McIntosh, A., Deary, I., Koellinger, P. D., Harden, K. P., Nivard, M. G. & Tucker-Drob, E. M., May 2019, In : Nature Human Behaviour. 3, 5, p. 513-525

    Research output: Contribution to journalArticle

  78. Leukoencephalopathy, intracranial calcifications, cysts and SNORD118 mutation (Labrune Syndrome) with obstructive hydrocephalus

    Shtaya, A., Elmslie, F., Crow, Y. & Hettige, S., May 2019, In : World neurosurgery. 125

    Research output: Contribution to journalArticle

  79. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

    NIHR BioResource-Rare Dis & Next Generation Children Project, May 2019, In : Intensive Care Medicine. 45, 5, p. 627-636 10 p.

    Research output: Contribution to journalArticle

  80. A review of neuroeconomic gameplay in psychiatric disorders

    Robson, S. E., Repetto, L., Gountouna, V-E. & Nicodemus, K. K., 30 Apr 2019, In : Molecular Psychiatry.

    Research output: Contribution to journalReview article

  81. Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait

    Chundru, V. K., Marioni, R. E., Prendergast, J. G. D., Vallerga, C. L., Lin, T., Berveridge, A. J., Consortium, S., Gratten, J., Hume, D. A., Deary, I. J., Wray, N. R., Visscher, P. M. & McRae, A. F., 30 Apr 2019, In : Genetics.

    Research output: Contribution to journalArticle

  82. Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies

    Uggenti, C., Lepelley, A. & Crow, Y., 26 Apr 2019, In : Annual review of immunology. 37, p. 247-267 21 p.

    Research output: Contribution to journalReview article

  83. Cardiac Troponin T and Troponin I in the general population: comparing and contrasting their genetic determinants and associations with outcomes

    Welsh, P., Preiss, D., Hayward, C., Shah, A., Mcallister, D., Briggs, A., Boachie, C., McConnachie, A., Padmanabhan, S., Welsh, C., Woodward, M., Campbell, A., Porteous, D., Mills, N. & Sattar, N., 24 Apr 2019, In : Circulation.

    Research output: Contribution to journalArticle

  84. Human pancreatic carcinoma-associated fibroblasts promote expression of co-inhibitory markers on CD4+ and CD8+ T-cells

    Gorchs, L., Fernández Moro, C., Bankhead, P., Kern, K., Sadeak, I., Meng, Q., Rangelova, E. & Kaipe, H., 24 Apr 2019, In : Frontiers in Immunology. 10, 847.

    Research output: Contribution to journalArticle

  85. Precision Medicine in Epilepsy-The Way Forward?

    Abbott, C. M., 17 Apr 2019, In : ACS Chemical Neuroscience. 10, 4, p. 2080-2081 2 p.

    Research output: Contribution to journalEditorial

  86. Involvement of ADAM12 in chondrocyte differentiation by regulation of TGF-β1–induced IGF-1 and RUNX-2 expression

    Horita, M., Nishida, K., Hasei, J., Furumatsu, T., Sakurai, M., Onodera, Y., Fukuda, K., Salter, D. & Ozaki, T., 16 Apr 2019, In : Calcified Tissue International. 105, 1, p. 97–106

    Research output: Contribution to journalArticle

  87. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Deciphering Developmental Disorders Study, UK10K Consortium & NIHR BioResource, 11 Apr 2019, In : American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journalArticle

  88. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

    LifeLines Cohort Study, 10 Apr 2019, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  89. Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

    Gratia, M., Rodero, M. P., Conrad, C., Samra, E. B., Maurin, M., Rice, G. I., Duffy, D., Revy, P., Petit, F., Dale, R. C., Crow, Y., Amor-Gueret, M. & Manel, N., 1 Apr 2019, In : Journal of Experimental Medicine.

    Research output: Contribution to journalArticle

  90. The Effect of Dapagliflozin on Glycaemic Control and other Cardiovascular Disease Risk factors in type 2 diabetes mellitus: a real-world observational study

    Scottish Diabetes Research Network Epidemiology Group, McGurnaghan, S., Brierley, L., Caparrotta, T., McKeigue, P., Blackbourn, L. A. K., Wild, S., Leese, G. P., McCrimmon, R. J., McKnight, J., Pearson, E. R., Petrie, J. R., Sattar, N. A. & Colhoun, H., 1 Apr 2019, In : Diabetologia.

    Research output: Contribution to journalArticle

  91. A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1

    Wood, S. R., McClements, M. E., Martinez-Fernandez de la Camara, C., Patrício, M. I., Uggenti, C., Sekaran, S., Barnard, A. R., Manson, F. D. & MacLaren, R. E., Apr 2019, In : Human gene therapy methods. 30, 2, p. 44-52 9 p.

    Research output: Contribution to journalArticle

  92. Sleep and cognitive aging in the eighth decade of life

    Cox, S., Ritchie, S. J., Allerhand, M., Hagenaars, S. P., Radakovic, R., Breen, D., Davies, G., Riha, R. L., Harris, S., Starr, J. & Deary, I., Apr 2019, In : Sleep. 42, 4, p. 1-12 zsz019.

    Research output: Contribution to journalArticle

  93. eEF1A demonstrates paralog specific effects on HIV-1 reverse transcription efficiency

    Li, D., Rawle, D. J., Wu, Z., Jin, H., Lin, M-H., Lor, M., Abbott, C. M. & Harrich, D., Apr 2019, In : Virology. 530, p. 65-74 10 p.

    Research output: Contribution to journalArticle

  94. Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

    Bentley, A. R., Sung, Y. J., Brown, M. R., Winkler, T. W., Kraja, A. T., Ntalla, I., Schwander, K., Chasman, D. I., Lim, E., Deng, X., Guo, X., Liu, J., Lu, Y., Cheng, C., Sim, X., Vojinovic, D., Huffman, J. E., Musani, S. K., Li, C., Feitosa, M. F. & 281 others, Richard, M. A., Noordam, R., Baker, J., Chen, G., Aschard, H., Bartz, T. M., Ding, J., Dorajoo, R., Manning, A. K., Rankinen, T., Smith, A. V., Tajuddin, S. M., Zhao, W., Graff, M., Alver, M., Boissel, M., Chai, J. F., Chen, X., Divers, J., Evangelou, E., Gao, C., Goel, A., Hagemeijer, Y., Harris, S. E., Hartwig, F. P., He, M., Horimoto, A. R. V. R., Hsu, F., Hung, Y., Jackson, A. U., Kasturiratne, A., Komulainen, P., Kühnel, B., Leander, K., Lin, K., Luan, J., Lyytikäinen, L., Matoba, N., Nolte, I. M., Pietzner, M., Prins, B., Riaz, M., Robino, A., Said, M. A., Schupf, N., Scott, R. A., Sofer, T., Stancáková, A., Takeuchi, F., Tayo, B. O., Van Der Most, P. J., Varga, T. V., Wang, T., Wang, Y., Ware, E. B., Wen, W., Xiang, Y., Yanek, L. R., Zhang, W., Zhao, J. H., Adeyemo, A., Afaq, S., Amin, N., Amini, M., Arking, D. E., Arzumanyan, Z., Aung, T., Ballantyne, C., Barr, R. G., Bielak, L. F., Boerwinkle, E., Bottinger, E. P., Broeckel, U., Brown, M., Cade, B. E., Campbell, A., Canouil, M., Charumathi, S., Chen, Y. I., Christensen, K., Concas, M. P., Connell, J. M., De Las Fuentes, L., De Silva, H. J., De Vries, P. S., Doumatey, A., Duan, Q., Eaton, C. B., Eppinga, R. N., Faul, J. D., Floyd, J. S., Forouhi, N. G., Forrester, T., Friedlander, Y., Gandin, I., Gao, H., Ghanbari, M., Gharib, S. A., Gigante, B., Giulianini, F., Grabe, H. J., Gu, C. C., Harris, T. B., Heikkinen, S., Heng, C., Hirata, M., Hixson, J. E., Ikram, M. A., Jia, Y., Joehanes, R., Johnson, C., Jonas, J. B., Justice, A. E., Katsuya, T., Khor, C. C., Kilpeläinen, T. O., Koh, W., Kolcic, I., Kooperberg, C., Krieger, J. E., Kritchevsky, S. B., Kubo, M., Kuusisto, J., Lakka, T. A., Langefeld, C. D., Langenberg, C., Launer, L. J., Lehne, B., Lewis, C. E., Li, Y., Liang, J., Lin, S., Liu, C., Liu, J., Liu, K., Loh, M., Lohman, K. K., Louie, T., Luzzi, A., Mägi, R., Mahajan, A., Manichaikul, A. W., Mckenzie, C. A., Meitinger, T., Metspalu, A., Milaneschi, Y., Milani, L., Mohlke, K. L., Momozawa, Y., Morris, A. P., Murray, A. D., Nalls, M. A., Nauck, M., Nelson, C. P., North, K. E., O’connell, J. R., Palmer, N. D., Papanicolau, G. J., Pedersen, N. L., Peters, A., Peyser, P. A., Polasek, O., Poulter, N., Raitakari, O. T., Reiner, A. P., Renström, F., Rice, T. K., Rich, S. S., Robinson, J. G., Rose, L. M., Rosendaal, F. R., Rudan, I., Schmidt, C. O., Schreiner, P. J., Scott, W. R., Sever, P., Shi, Y., Sidney, S., Sims, M., Smith, J. A., Snieder, H., Starr, J. M., Strauch, K., Stringham, H. M., Tan, N. Y. Q., Tang, H., Taylor, K. D., Teo, Y. Y., Tham, Y. C., Tiemeier, H., Turner, S. T., Uitterlinden, A. G., Van Heemst, D., Waldenberger, M., Wang, H., Wang, L., Wang, L., Wei, W. B., Williams, C. A., Wilson, G., Wojczynski, M. K., Yao, J., Young, K., Yu, C., Yuan, J., Zhou, J., Zonderman, A. B., Becker, D. M., Boehnke, M., Bowden, D. W., Chambers, J. C., Cooper, R. S., De Faire, U., Deary, I. J., Elliott, P., Esko, T., Farrall, M., Franks, P. W., Freedman, B. I., Froguel, P., Gasparini, P., Gieger, C., Horta, B. L., Juang, J. J., Kamatani, Y., Kammerer, C. M., Kato, N., Kooner, J. S., Laakso, M., Laurie, C. C., Lee, I., Lehtimäki, T., Magnusson, P. K. E., Oldehinkel, A. J., Penninx, B. W. J. H., Pereira, A. C., Rauramaa, R., Redline, S., Samani, N. J., Scott, J., Shu, X., Van Der Harst, P., Wagenknecht, L. E., Wang, J., Wang, Y. X., Wareham, N. J., Watkins, H., Weir, D. R., Wickremasinghe, A. R., Wu, T., Zeggini, E., Zheng, W., Bouchard, C., Evans, M. K., Gudnason, V., Kardia, S. L. R., Liu, Y., Psaty, B. M., Ridker, P. M., Van Dam, R. M., Mook-kanamori, D. O., Fornage, M., Province, M. A., Kelly, T. N., Fox, E. R., Hayward, C., Van Duijn, C. M., Tai, E. S., Wong, T. Y., Loos, R. J. F., Franceschini, N., Rotter, J. I., Zhu, X., Bierut, L. J., Gauderman, W. J., Rice, K., Munroe, P. B., Morrison, A. C., Rao, D. C., Rotimi, C. N. & Cupples, L. A., 29 Mar 2019, In : Nature Genetics. 51, 4, p. 636-648

    Research output: Contribution to journalArticle

  95. Parent of origin genetic effects on methylation in humans are common and influence complex trait variation

    Zeng, Y., Amador, C., Xia, C., Marioni, R., Sproul, D., Walker, R., Deary, I., Morris, S. W., McIntosh, A. & Haley, C., 27 Mar 2019, In : Nature Communications. 10, 1383.

    Research output: Contribution to journalArticle

  96. The inflammatory bowel disease drug azathioprine induces autophagy via mTORC1 and the unfolded protein response sensor PERK

    Hooper, K., Casanova, V., Kemp, S., Staines, K., Satsangi, J., Barlow, P., Henderson, P. & Stevens, C., 19 Mar 2019, In : Inflammatory Bowel Diseases.

    Research output: Contribution to journalArticle

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