King's College London

Research portal

Professor Richard Trembath

  1. Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension

    the UK National Cohort Study of Idiopathic and Heritable PAH Consortium, 1 Jul 2022, In: American Journal of Respiratory and Critical Care Medicine. 206, 1, p. 81-93 13 p.

    Research output: Contribution to journalArticlepeer-review

  2. Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study

    Genes & Health Research Team, May 2022, In: PLoS Medicine. 19, 5, e1003981.

    Research output: Contribution to journalArticlepeer-review

  3. Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension

    Uniphy Clinical Trials Network, 10 Mar 2022, (E-pub ahead of print) In: The European respiratory journal. 59, 3, 2002463.

    Research output: Contribution to journalArticlepeer-review

  4. Mapping the human genetic architecture of COVID-19

    COVID-19 Host Genetics Initiative, 16 Dec 2021, In: Nature. 600, 7889, p. 472-477 6 p.

    Research output: Contribution to journalArticlepeer-review

  5. MC3R links nutritional state to childhood growth and the timing of puberty

    Genes & Health Research Team, 18 Nov 2021, In: Nature. 599, 7885, p. 436-441 6 p.

    Research output: Contribution to journalArticlepeer-review

  6. Genome-Wide Association Study Identifies Risk Loci for Cluster Headache

    O'Connor, E., Fourier, C., Ran, C., Sivakumar, P., Liesecke, F., Southgate, L., Harder, A. V. E., Vijfhuizen, L. S., Yip, J., Giffin, N., Silver, N., Ahmed, F., Hostettler, I. C., Davies, B., Cader, M. Z., Simpson, B. S., Sullivan, R., Efthymiou, S., Adebimpe, J., Quinn, O. & 20 others, Campbell, C., Cavalleri, G. L., Vikelis, M., Kelderman, T., Paemeleire, K., Kilbride, E., Grangeon, L., Lagrata, S., Danno, D., Trembath, R., Wood, N. W., Kockum, I., Winsvold, B. S., Steinberg, A., Sjöstrand, C., Waldenlind, E., Vandrovcova, J., Houlden, H., Matharu, M. & Belin, A. C., Aug 2021, In: Annals of Neurology. 90, 2, p. 193-202 10 p.

    Research output: Contribution to journalArticlepeer-review

  7. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

    Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases & National Cohort Study of Idiopathic and Heritable PAH, 10 May 2021, In: Genome medicine. 13, 1, p. 80 1 p.

    Research output: Contribution to journalArticlepeer-review

  8. The transCampus Metabolic Training Programme Explores the Link of SARS-CoV-2 Virus to Metabolic Disease

    Bornstein, S. R., Guan, K., Brunβen, C., Mueller, G., Kamvissi-Lorenz, V., Lechler, R., Trembath, R., Mayr, M., Poston, L., Sancho, R., Ahmed, S., Alfar, E., Aljani, B., Alves, T. C., Amiel, S., Andoniadou, C. L., Bandral, M., Belavgeni, A., Berger, I., Birkenfeld, A. & 74 others, Bonifacio, E., Chavakis, T., Chawla, P., Choudhary, P., Cujba, A. M., Delgadillo Silva, L. F., Demcollari, T., Drotar, D. M., Duin, S., El-Agroudy, N. N., El-Armouche, A., Eugster, A., Gado, M., Gavalas, A., Gelinsky, M., Guirgus, M., Hansen, S., Hanton, E., Hasse, M., Henneicke, H., Heller, C., Hempel, H., Hogstrand, C., Hopkins, D., Jarc, L., Jones, P. M., Kamel, M., Kämmerer, S., King, A. J. F., Kurzbach, A., Lambert, C., Latunde-Dada, Y., Lieberam, I., Liers, J., Li, J. W., Linkermann, A., Locke, S., Ludwig, B., Manea, T., Maremonti, F., Marinicova, Z., McGowan, B. M., Mickunas, M., Mingrone, G., Mohanraj, K., Morawietz, H., Ninov, N., Peakman, M., Persaud, S. J., Pietzsch, J., Cachorro, E., Pullen, T. J., Pyrina, I., Rubino, F., Santambrogio, A., Schepp, F., Schlinkert, P., Scriba, L. D., Siow, R., Solimena, M., Spagnoli, F. M., Speier, S., Stavridou, A., Steenblock, C., Strano, A., Taylor, P., Tiepner, A., Tonnus, W., Tree, T., Watt, F., Werdermann, M., Wilson, M., Yusuf, N. & Ziegler, C. G., 1 Mar 2021, In: Hormone and Metabolic Research. 53, 3, p. 204-206 3 p.

    Research output: Contribution to journalArticlepeer-review

  9. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

    Swietlik, E. M., Greene, D., Zhu, N., Megy, K., Cogliano, M., Rajaram, S., Pandya, D., Tilly, T., Lutz, K. A., Welch, C. C. L., Pauciulo, M. W., Southgate, L., Martin, J. M., Treacy, C. M., Penkett, C. J., Stephens, J. C., Bogaard, H. J., Church, C., Coghlan, G., Coleman, A. W. & 39 others, Condliffe, R., Eichstaedt, C. A., Eyries, M., Gall, H., Ghio, S., Girerd, B., Grünig, E., Holden, S., Howard, L., Humbert, M., Kiely, D. G., Kovacs, G., Lordan, J., Machado, R. D., Mackenzie Ross, R. V., McCabe, C., Moledina, S., Montani, D., Olschewski, H., Pepke-Zaba, J., Price, L., Rhodes, C. J., Seeger, W., Soubrier, F., Suntharalingam, J., Toshner, M. R., Vonk Noordegraaf, A., Wharton, J., Wild, J. M., Wort, S. J., Lawrie, A., Wilkins, M. R., Trembath, R. C., Shen, Y., Chung, W. K., Swift, A. J., Nichols, W. C., Morrell, N. W. & Gräf, S., 2021, (Accepted/In press) In: Circulation: Genomic and Precision Medicine.

    Research output: Contribution to journalArticlepeer-review

  10. Whole exome sequence analysis provides novel insights into the genetic framework of childhood-onset pulmonary arterial hypertension

    Gelinas, S. M., Benson, C. E., Khan, M. A., Berger, R. M. F., Trembath, R. C., Machado, R. D. & Southgate, L., Nov 2020, In: Genes. 11, 11, p. 1-12 12 p., 1328.

    Research output: Contribution to journalArticlepeer-review

  11. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

    VA Million Veteran Program, 3 Sep 2020, In: Cell. 182, 5, p. 1198-1213.e14

    Research output: Contribution to journalArticlepeer-review

  12. Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome

    Rhodes, C. J., Otero-Núñez, P., Wharton, J., Swietlik, E. M., Kariotis, S., Harbaum, L., Dunning, M. J., Elinoff, J. M., Errington, N., Thompson, A. A. R., Iremonger, J., Coghlan, J. G., Corris, P. A., Howard, L. S., Kiely, D. G., Church, C., Pepke-Zaba, J., Toshner, M., Wort, S. J., Desai, A. A. & 11 others, Humbert, M., Nichols, W. C., Southgate, L., Trégouët, D. A., Trembath, R. C., Prokopenko, I., Gräf, S., Morrell, N. W., Wang, D., Lawrie, A. & Wilkins, M. R., 15 Aug 2020, In: American Journal of Respiratory and Critical Care Medicine. 202, 4, p. 586-594 9 p.

    Research output: Contribution to journalArticlepeer-review

  13. Whole-genome sequencing of patients with rare diseases in a national health system

    NIHR BioResource for the 100,000 Genomes Project, Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J., Bennett, D. L. & 31 others, Calleja, P., Carss, K., Caulfield, M. J., Chinnery, P. F., Dixon, P. H., Gale, D. P., James, R., Koziell, A., Laffan, M. A., Levine, A. P., Maher, E. R., Markus, H. S., Morales, J., Morrell, N. W., Mumford, A. D., Ormondroyd, E., Rankin, S., Rendon, A., Richardson, S., Bennett, D. L., Bueser, T., Carr-White, G., Flinter, F. A., Irving, M., Josifova, D., Koziell, A., Mohammed, S. N., Thomas, E., Traylor, M., Trembath, R. & Williamson, C., 2 Jul 2020, In: Nature. 583, 7814, p. 96-102 7 p.

    Research output: Contribution to journalArticlepeer-review

  14. Evaluating drug targets through human loss-of-function genetic variation

    Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Minikel, E. V., Karczewski, K. J., Martin, H. C., Cummings, B. B., Whiffin, N., Rhodes, D., Alföldi, J., Trembath, R. C., van Heel, D. A., Daly, M. J., Alföldi, J., Armean, I. M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R. L., Connolly, K. M., Covarrubias, M. & 32 others, Cummings, B. B., Daly, M. J., Donnelly, S., Farjoun, Y., Ferriera, S., Francioli, L., Gabriel, S., Gauthier, L. D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Karczewski, K. J., Laricchia, K. M., Llanwarne, C., Minikel, E. V., Munshi, R., Neale, B. M., Novod, S., O’Donnell-Luria, A. H., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K. E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G. & Tibbetts, K., 28 May 2020, In: Nature. 581, 7809, p. 459-464 6 p.

    Research output: Contribution to journalArticlepeer-review

  15. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

    Genomics England Research Consortium, 1 May 2020, In: GENETICS IN MEDICINE. 22, 5, p. 867-877 11 p.

    Research output: Contribution to journalArticlepeer-review

  16. Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

    McGregor, T. L., Hunt, K. A., Yee, E., Mason, D., Nioi, P., Ticau, S., Pelosi, M., Loken, P. R., Finer, S., Lawlor, D. A., Fauman, E. B., Huang, Q. Q., Griffiths, C. J., MacArthur, D. G., Trembath, R. C., Oglesbee, D., Lieske, J. C., Erbe, D. V., Wright, J. & van Heel, D. A., 24 Mar 2020, In: eLife. 9, e54363.

    Research output: Contribution to journalArticlepeer-review

  17. Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people

    Finer, S., Martin, H. C., Khan, A., Hunt, K. A., MacLaughlin, B., Ahmed, Z., Ashcroft, R., Durham, C., MacArthur, D. G., McCarthy, M. I., Robson, J., Trivedi, B., Griffiths, C., Wright, J., Trembath, R. C. & van Heel, D. A., 1 Feb 2020, In: International Journal of Epidemiology. 49, 1, p. 20-21i

    Research output: Contribution to journalArticlepeer-review

  18. Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, 15 Oct 2019, In: Human Molecular Genetics. 28, 20, p. 3498-3513 16 p.

    Research output: Contribution to journalArticlepeer-review

  19. The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population

    The UK Ireland Renal Transplant Consortium, DeKAF Genomics and GEN03 Studies & The International Genetics and Translational Research in Transplantation Network, 1 Aug 2019, In: American Journal of Transplantation. 19, 8, p. 2262-2273 12 p.

    Research output: Contribution to journalArticlepeer-review

  20. BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension

    Chowdhury, H. M., Sharmin, N., Yuzbasioglu Baran, M., Long, L., Morrell, N. W., Trembath, R. C. & Nasim, M. T., 1 Jul 2019, In: Human Molecular Genetics. 28, 13, p. 2161-2173 13 p.

    Research output: Contribution to journalArticlepeer-review

  21. Genetic Studies 2019

    Trembath, R. C., Hysi, P. & Langman, C. M., 20 Jun 2019, (Accepted/In press) In: Nature Communications.

    Research output: Contribution to journalArticlepeer-review

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

    Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Simpson, M. A., Prigmore, E., Jones, P., Armstrong, R., Bennett, C., Berg, J., Bernhard, B., Cooper, N., Cox, H., Flinter, F., Fry, A., Gill, H., Gray, E., Harrison, V., Irving, M., Josifova, D., Langman, C. & 44 others, Mohammed, S., Moore, D., Murphy, H., Roberts, J., Tischkowitz, M., Wright, M., Bolton, P., Breen, G., Clement, G., Collier, D., Curran, S., Ellis, P., Evans, D., Hart, D., Hubbard, T., Hysi, P., Jamshidi, Y., Lachance, G., Lopes, M., McGuffin, P., Metrustry, S., Moayyeri, A., Onoufriadis, A., Parr, J. R., Quaye, L., Sharp, S. I., Small, K., Spasic-Boskovic, O., Stevens, E., Valdes, A., Walters, J. T. R., Wang, Y., Bennett, D., Bradley, J. R., Davis, J., Koziell, A., Machado, R., Richards, M., Smith, K., Southgate, L., Thomas, E., Trembath, R., Williamson, C. & Yong, P., 2 May 2019, In: American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journalArticlepeer-review

  23. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

    UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium, 1 Mar 2019, In: The Lancet Respiratory Medicine. 7, 3, p. 227-238 12 p.

    Research output: Contribution to journalArticlepeer-review

  24. The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

    Newnham, M., South, K., Bleda, M., Auger, W. R., Barberà, J. A., Bogaard, H., Bunclark, K., Cannon, J. E., Delcroix, M., Hadinnapola, C., Howard, L. S., Jenkins, D., Mayer, E., Ng, C., Rhodes, C. J., Screaton, N., Sheares, K., Simpson, M. A., Southwood, M., Su, L. & 12 others, Taboada, D., Traylor, M., Trembath, R. C., Villar, S. S., Wilkins, M. R., Wharton, J., Gräf, S., Pepke-Zaba, J., Laffan, M., Lane, D. A., Morrell, N. W. & Toshner, M., 1 Mar 2019, In: European Respiratory Journal. 53, 3, 1801805.

    Research output: Contribution to journalArticlepeer-review

  25. Erratum to: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (Nature Communications, (2018), 9, 1, (1864), 10.1038/s41467-018-03646-6)

    Blue Mountains Eye Study - GWAS group, Wellcome Trust Case Control Consortium 2 (WTCCC2) & NEIGHBORHOOD Consortium, 8 Jan 2019, (E-pub ahead of print) In: Nature Communications. 10, 1, 155.

    Research output: Contribution to journalComment/debatepeer-review

  26. Genetics and genomics of pulmonary arterial hypertension

    Morrell, N. W., Aldred, M. A., Chung, W. K., Elliott, C. G., Nichols, W. C., Soubrier, F., Trembath, R. C. & Loyd, J. E., 1 Jan 2019, In: The European respiratory journal. 53, 1

    Research output: Contribution to journalArticlepeer-review

  27. Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension

    Bohnen, M. S., Ma, L., Zhu, N., Qi, H., McClenaghan, C., Gonzaga-Jauregui, C., Dewey, F. E., Overton, J. D., Reid, J. G., Shuldiner, A. R., Baras, A., Sampson, K. J., Bleda, M., Hadinnapola, C., Haimel, M., Bogaard, H. J., Church, C., Coghlan, G., Corris, P. A., Eyries, M. & 30 others, Gibbs, J. S. R., Girerd, B., Houweling, A. C., Humbert, M., Guignabert, C., Kiely, D. G., Lawrie, A., MacKenzie Ross, R. V., Martin, J. M., Montani, D., Peacock, A. J., Pepke-Zaba, J., Soubrier, F., Suntharalingam, J., Toshner, M., Treacy, C. M., Trembath, R. C., Vonk Noordegraaf, A., Wharton, J., Wilkins, M. R., Wort, S. J., Yates, K., Gräf, S., Morrell, N. W., Krishnan, U., Rosenzweig, E. B., Shen, Y., Nichols, C. G., Kass, R. S. & Chung, W. K., 1 Oct 2018, In: Circulation. Genomic and precision medicine. 11, 10, e002087.

    Research output: Contribution to journalArticlepeer-review

  28. The psoriasis risk allele HLA-C∗06: 02 shows evidence of association with chronic or recurrent streptococcal tonsillitis

    Haapasalo, K., Koskinen, L. L. E., Suvilehto, J., Jousilahti, P., Wolin, A., Suomela, S., Trembath, R., Barker, J., Vuopio, J., Kere, J., Sakari Jokiranta, T. & Saavalainen, P., 1 Oct 2018, In: Infection and Immunity. 86, 10, e00304-18.

    Research output: Contribution to journalArticlepeer-review

  29. Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data

    The METASTROKE Consortium of the International Stroke Genetics Consortium, The Netherlands Twin Registry, The neuroCHARGE Working Group, The Obsessive Compulsive and Tourette Syndrome Working Group of the Psychiatric Genomics Consortium, The 23 and Me Research Team, The Inflammation Working Group of the CHARGE Consortium, Tylee, D. S., Sun, J., Hess, J. L., Tahir, M. A., Sharma, E., Malik, R., Worrall, B. B., Levine, A. J., Martinson, J. J., Nejentsev, S., Speed, D., Fischer, A., Mick, E., Walker, B. R. & 15 others, Crawford, A., Grant, S. F. A., Polychronakos, C., Bradfield, J. P., Sleiman, P. M. A., Hakonarson, H., Ellinghaus, E., Elder, J. T., Tsoi, L. C., Trembath, R. C., Barker, J. N., Franke, A., Dehghan, A., Faraone, S. V. & Glatt, S. J., Oct 2018, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 177, 7, p. 641-657 17 p.

    Research output: Contribution to journalArticlepeer-review

  30. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

    Meester, J. A. N., Sukalo, M., Schröder, K. C., Schanze, D., Baynam, G., Borck, G., Bramswig, N. C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D. S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C., Salih, M. A. & 16 others, Savarirayan, R., Scurr, I., Splitt, M., Thompson, E., Titheradge, H., Travers, C. P., Van Maldergem, L., Whiteford, M., Wieczorek, D., Vandeweyer, G., Trembath, R., Van Laer, L., Loeys, B. L., Zenker, M., Southgate, L. & Wuyts, W., 1 Sep 2018, In: Human Mutation. 39, 9, p. 1246-1261 16 p.

    Research output: Contribution to journalArticlepeer-review

  31. Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study

    United Kingdom and Ireland Renal Transplant Consortium (UKIRTC) and the Wellcome Trust Case Control Consortium (WTCCC)-3, Jun 2018, In: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

    Research output: Contribution to journalArticlepeer-review

  32. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

    Gräf, S., Haimel, M., Bleda, M., Hadinnapola, C., Southgate, L., Li, W., Hodgson, J., Liu, B., Salmon, R. M., Southwood, M., Machado, R. D., Martin, J. M., Treacy, C. M., Yates, K., Daugherty, L. C., Shamardina, O., Whitehorn, D., Holden, S., Aldred, M., Bogaard, H. J. & 30 others, Church, C., Coghlan, G., Condliffe, R., Corris, P. A., Danesino, C., Eyries, M., Gall, H., Ghio, S., Ghofrani, H. A., Gibbs, J. S. R., Girerd, B., Houweling, A. C., Howard, L., Humbert, M., Kiely, D. G., Kovacs, G., MacKenzie Ross, R. V., Moledina, S., Montani, D., Newnham, M., Olschewski, A., Olschewski, H., Peacock, A. J., Pepke-Zaba, J., Prokopenko, I., Rhodes, C. J., Scelsi, L., Seeger, W., Soubrier, F. & Trembath, R. C., 30 Apr 2018, In: Nature Communications. 9, 1416.

    Research output: Contribution to journalArticlepeer-review

  33. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

    Hadinnapola, C., Bleda, M., Haimel, M., Screaton, N., Swift, A., Dorfmüller, P., Preston, S. D., Southwood, M., Hernandez-Sanchez, J., Martin, J., Treacy, C., Yates, K., Bogaard, H., Church, C., Coghlan, G., Condliffe, R., Corris, P. A., Gibbs, S., Girerd, B., Holden, S. & 24 others, Humbert, M., Kiely, D. G., Lawrie, A., Machado, R., MacKenzie Ross, R., Moledina, S., Montani, D., Newnham, M., Peacock, A., Pepke-Zaba, J., Rayner-Matthews, P., Shamardina, O., Soubrier, F., Southgate, L., Suntharalingam, J., Toshner, M., Trembath, R., Noordegraaf, A. V., Wilkins, M. R., Wort, S. J., Wharton, J., Gräf, S., Morrell, N. W. & NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH, 21 Nov 2017, In: Circulation. 136, 21, p. 2022-2033 12 p.

    Research output: Contribution to journalArticlepeer-review

  34. Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

    Dand, N., Mucha, S., Tsoi, L. C., Mahil, S. K., Stuart, P. E., Arnold, A., Baurecht, H., Burden, A. D., Duffin, K. C., Chandran, V., Curtis, C. J., Das, S., Ellinghaus, D., Ellinghaus, E., Enerback, C., Esko, T., Gladman, D. D., Griffiths, C. E. M., Gudjonsson, J. E., Hoffman, P. & 34 others, Homuth, G., Hüffmeier, U., Krueger, G. G., Laudes, M., Lee, S. H., Lieb, W., Lim, H. W., Löhr, S., Mrowietz, U., Müller-Nurayid, M., Nöthen, M., Peters, A., Rahman, P., Reis, A., Reynolds, N. J., Rodriguez, E., Schmidt, C. O., Spain, S. L., Strauch, K., Tejasvi, T., Voorhees, J. J., Warren, R. B., Weichenthal, M., Weidinger, S., Zawistowski, M., Nair, R. P., Capon, F., Smith, C. H., Trembath, R. C., Abecasis, G. R., Elder, J. T., Franke, A., Simpson, M. A. & Barker, J. N., 1 Nov 2017, In: Human Molecular Genetics. 26, 21, p. 4301-4313

    Research output: Contribution to journalArticlepeer-review

  35. LB969 Preliminary validation of the IL-36 receptor as a target in psoriasis treatment

    Mahil, S., Peakman, M., Trembath, R., Wright, J., Barker, J. & Capon, F., 20 Sep 2017, (E-pub ahead of print) In: Journal of Investigative Dermatology. 137, 10, p. B7

    Research output: Contribution to journalArticlepeer-review

  36. 203 Preliminary therapeutic target validation of the IL-36 receptor in psoriasis: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Mahil, S. K., Peakman, M., Trembath, R., Wright, J., Barker, J. & Capon, F., 8 Sep 2017, (E-pub ahead of print) In: Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S227

    Research output: Contribution to journalArticlepeer-review

  37. Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

    Narasimhan, V. M., Rahbari, R., Scally, A., Wuster, A., Mason, D., Xue, Y., Wright, J., Trembath, R. C., Maher, E. R., Van Heel, D. A., Auton, A., Hurles, M. E., Tyler-Smith, C. & Durbin, R., 21 Aug 2017, In: Nature Communications. 8, 1, 303.

    Research output: Contribution to journalArticlepeer-review

  38. miR-146b probably assists miRNA-146a in the suppression of keratinocyte proliferation and inflammatory responses in psoriasis

    Hermann, H., Runnel, T., Aab, A., Baurecht, H., Rodriguez, E., Magilnick, N., Urgard, E., Šahmatova, L., Prans, E., Maslovskaja, J., Abram, K., Karelson, M., Kaldvee, B., Reemann, P., Haljasorg, U., Rückert, B., Wawrzyniak, P., Weichenthal, M., Mrowietz, U., Franke, A. & 13 others, Gieger, C., Barker, J., Trembath, R., Tsoi, L. C., Elder, J. T., Tkaczyk, E. R., Kisand, K., Peterson, P., Kingo, K., Boldin, M., Weidinger, S., Akdis, C. A. & Rebane, A., 6 Jun 2017, (E-pub ahead of print) In: Journal of Investigative Dermatology.

    Research output: Contribution to journalArticlepeer-review

  39. Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

    Tsoi, L. C., Stuart, P. E., Tian, C., Gudjonsson, J. E., Das, S., Zawistowski, M., Ellinghaus, E., Barker, J. N., Chandran, V., Dand, N., Duffin, K. C., Enerbäck, C., Esko, T., Franke, A., Gladman, D. D., Hoffmann, P., Kingo, K., Kõks, S., Krueger, G. G., Lim, H. W. & 17 others, Metspalu, A., Mrowietz, U., Mucha, S., Rahman, P., Reis, A., Tejasvi, T., Trembath, R., Voorhees, J. J., Weidinger, S., Weichenthal, M., Wen, X., Eriksson, N., Kang, H. M., Hinds, D. A., Nair, R. P., Abecasis, G. R. & Elder, J. T., 24 May 2017, In: Nature Communications. 8, 15382.

    Research output: Contribution to journalArticlepeer-review

  40. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., Megy, K., Grozeva, D., Dewhurst, E., Malka, S., Plagnol, V., Penkett, C., Stirrups, K., Rizzo, R., Wright, G., Josifova, D., Bitner-Glindzicz, M., Scott, R. H., Clement, E., Allen, L. & 290 others, Armstrong, R., Brady, A. F., Carmichael, J., Chitre, M., Henderson, R. H. H., Hurst, J., MacLaren, R. E., Murphy, E., Paterson, J., Rosser, E., Thompson, D. A., Wakeling, E., Ouwehand, W. H., Michaelides, M., Moore, A. T., Aitman, T., Alachkar, H., Ali, S., Allen, L., Allsup, D., Ambegaonkar, G., Anderson, J., Antrobus, R., Armstrong, R., Arno, G., Arumugakani, G., Ashford, S., Astle, W., Attwood, A., Austin, S., Bacchelli, C., Bakchoul, T., Bariana, T. K., Baxendale, H., Bennett, D., Bethune, C., Bibi, S., Bitner-Glindzicz, M., Bleda, M., Boggard, H., Bolton-Maggs, P., Booth, C., Brady, A., Brown, M., Browning, M., Bryson, C., Burns, S., Calleja, P., Canham, N., Carmichael, J., Carss, K., Caulfield, M., Chalmers, E., Chandra, A., Chinnery, P., Chitre, M., Church, C., Clement, E., Clements-Brod, N., Clowes, V., Coghlan, G., Collins, P., Cooper, N., Creaser-Myers, A., DaCosta, R., Daugherty, L., Davies, S., Davis, J., De Vries, M., Deegan, P., Deevi, S. V. V., Deshpande, C., Devlin, L., Dewhurst, E., Doffinger, R., Dormand, N., Drewe, E., Edgar, D., Egner, W., Erber, W. N., Erwood, M., Everington, T., Favier, R., Firth, H., Fletcher, D., Flinter, F., Fox, J. C., Frary, A., Freson, K., Furie, B., Furnell, A., Gale, D., Gardham, A., Gattens, M., Ghali, N., Ghataorhe, P. K., Ghurye, R., Gibbs, S., Gilmour, K., Gissen, P., Goddard, S., Gomez, K., Gordins, P., Gräf, S., Greene, D., Greenhalgh, A., Greinacher, A., Grigoriadou, S., Grozeva, D., Hackett, S., Hadinnapola, C., Hague, R., Haimel, M., Halmagyi, C., Hammerton, T., Hart, D., Hayman, G., Heemskerk, J. W. M., Henderson, R., Hensiek, A., Henskens, Y., Herwadkar, A., Holden, S., Holder, M., Holder, S., Hu, F., Huissoon, A., Humbert, M., Hurst, J., James, R., Jolles, S., Josifova, D., Kazmi, R., Keeling, D., Kelleher, P., Kelly, A. M., Kennedy, F., Kiely, D., Kingston, N., Koziell, A., Krishnakumar, D., Kuijpers, T. W., Kumararatne, D., Kurian, M., Laffan, M. A., Lambert, M. P., Allen, H. L., Lawrie, A., Lear, S., Lees, M., Lentaigne, C., Liesner, R., Linger, R., Longhurst, H., Lorenzo, L., Machado, R., Mackenzie, R., MacLaren, R., Maher, E., Maimaris, J., Mangles, S., Manson, A., Mapeta, R., Markus, H. S., Martin, J., Masati, L., Mathias, M., Matser, V., Maw, A., McDermott, E., McJannet, C., Meacham, S., Meehan, S., Megy, K., Mehta, S., Michaelides, M., Millar, C. M., Moledina, S., Moore, A., Morrell, N., Mumford, A., Murng, S., Murphy, E., Nejentsev, S., Noorani, S., Nurden, P., Oksenhendler, E., Ouwehand, W. H., Papadia, S., Park, S. M., Parker, A., Pasi, J., Patch, C., Paterson, J., Payne, J., Peacock, A., Peerlinck, K., Penkett, C. J., Pepke-Zaba, J., Perry, D. J., Pollock, V., Polwarth, G., Ponsford, M., Qasim, W., Quinti, I., Rankin, S., Rankin, J., Raymond, F. L., Rehnstrom, K., Reid, E., Rhodes, C. J., Richards, M., Richardson, S., Richter, A., Roberts, I., Rondina, M., Rosser, E., Roughley, C., Rue-Albrecht, K., Samarghitean, C., Sanchis-Juan, A., Sandford, R., Santra, S., Sargur, R., Savic, S., Schulman, S., Schulze, H., Scott, R., Scully, M., Seneviratne, S., Sewell, C., Shamardina, O., Shipley, D., Simeoni, I., Sivapalaratnam, S., Smith, K., Sohal, A., Southgate, L., Staines, S., Staples, E., Stauss, H., Stein, P., Stephens, J., Stirrups, K., Stock, S., Suntharalingam, J., Tait, R. C., Talks, K., Tan, Y., Thachil, J., Thaventhiran, J., Thomas, E., Thomas, M., Thompson, D., Thrasher, A., Tischkowitz, M., Titterton, C., Toh, C. H., Toshner, M., Treacy, C., Trembath, R., Tuna, S., Turek, W., Turro, E., Van Geet, C., Veltman, M., Vogt, J., von Ziegenweldt, J., Noordegraaf, A. V., Wakeling, E., Wanjiku, I., Warner, T. Q., Wassmer, E., Watkins, H., Webster, A., Welch, S., Westbury, S., Wharton, J., Whitehorn, D., Wilkins, M., Willcocks, L., Williamson, C., Woods, G., Wort, J., Yeatman, N., Yong, P., Young, T., Yu, P., Webster, A. R. & Raymond, F. L., 5 Jan 2017, In: American Journal of Human Genetics. 100, 1, p. 75-90 16 p.

    Research output: Contribution to journalArticlepeer-review

  41. AP1S3 mutations cause skin autoinflammation by disrupting keratinocyte autophagy and up-regulating IL-36 production

    Mahil, S. K., Twelves, S., Farkas, K., Setta-Kaffetzi, N., Burden, A. D., Gach, J. E., Irvine, A. D., Képíró, L., Mockenhaupt, M., Oon, H. H., Pinner, J., Ranki, A., Seyger, M. MB., Soler-Palacin, P., Storan, E. R., Tan, E. S., Valeyrie-Allanore, L., Young, H. S., Trembath, R. C., Choon, S-E. & 6 others, Szell, M., Bata-Csorgo, Z., Smith, C. H., Di Meglio, P., Barker, J. N. & Capon, F., 30 Nov 2016, In: Journal of Investigative Dermatology. 136, 11, p. 2251–2259

    Research output: Contribution to journalArticlepeer-review

  42. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

    Harlalka, G. V., Mcentagart, M. E., Gupta, N., Skrzypiec, A. E., Mucha, M. W., Chioza, B. A., Simpson, M. A., Sreekantan-Nair, A., Pereira, A., Günther, S., Jahic, A., Modarres, H., Moore-Barton, H., Trembath, R. C., Kabra, M., Baple, E. L., Thakur, S., Patton, M. A., Beetz, C., Pawlak, R. & 1 others, Crosby, A. H., 30 Aug 2016, (E-pub ahead of print) In: Human Mutation.

    Research output: Contribution to journalArticlepeer-review

  43. Hidradenitis suppurativa: Haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro

    Pink, A. E., Dafou, D., Desai, N., Holmes, O., Hobbs, C., Smith, C. H., Mortimer, P., Simpson, M. A., Trembath, R. C. & Barker, J. N., 28 Jul 2016, (E-pub ahead of print) In: British Journal of Dermatology.

    Research output: Contribution to journalLetterpeer-review

  44. Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

    Rautanen, A., Pirinen, M., Mills, TC., Rockett, KA., Strange, A., Ndungu, AW., Naranbhai, V., Gilchrist, JJ., Bellenguez, C., Freeman, C., Band, G., Bumpstead, SJ., Edkins, S., Giannoulatou, E., Gray, E., Dronov, S., Hunt, SE., Langford, C., Pearson, RD., Su, Z. & 37 others, Vukcevic, D., Macharia, AW., Uyoga, S., Ndila, C., Mturi, N., Njuguna, P., Mohammed, S., Berkley, JA., Mwangi, I., Mwarumba, S., Kitsao, BS., Lowe, BS., Morpeth, SC., Khandwalla, I., Blackwell, JM., Bramon, E., Brown, MA., Casas, JP., Corvin, A., Duncanson, A., Jankowski, J., Markus, HS., Mathew, CG., Palmer, CN. A., Plomin, R., Sawcer, SJ., Trembath, RC., Viswanathan, AC., Wood, NW., Deloukas, P., Peltonen, L., Williams, TN., Scott, J. AG., Chapman, SJ., Donnelly, P., Hill, AV. S. & Spencer, CC. A., 2 Jun 2016, In: American Journal of Human Genetics. 98, 6, p. 1092 - 1100

    Research output: Contribution to journalArticlepeer-review

  45. Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

    Smith, J., Read, M. L., Hoffman, J., Brown, R., Bradshaw, B., Campbell, C., Cole, T., Navas, J. D., Eatock, F., Gundara, J. S., Lian, E., Mcmullan, D., Morgan, N. V., Mulligan, L., Morrison, P. J., Robledo, M., Simpson, M. A., Smith, V. E., Stewart, S., Trembath, R. C. & 8 others, Sidhu, S., Togneri, F. S., Wake, N. C., Wallis, Y., Watkinson, J. C., Maher, E. R., McCabe, C. J. & Woodward, E. R., 1 May 2016, In: Human Molecular Genetics. 25, 9, p. 1836-45 10 p.

    Research output: Contribution to journalArticlepeer-review

  46. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

    Ellinghaus, D., Jostins, L., Spain, S. L., Cortes, A., Bethune, J., Han, B., Park, Y. R., Raychaudhuri, S., Pouget, J. G., Hübenthal, M., Folseraas, T., Wang, Y., Esko, T., Metspalu, A., Westra, H. J., Franke, L., Pers, T. H., Weersma, R. K., Collij, V., D'Amato, M. & 25 others, Halfvarson, J., Jensen, A. B., Lieb, W., Degenhardt, F., Forstner, A. J., Hofmann, A., Schreiber, S., Mrowietz, U., Juran, B. D., Lazaridis, K. N., Brunak, SØ., Dale, A. M., Trembath, R. C., Weidinger, S., Weichenthal, M., Ellinghaus, E., Elder, J. T., Barker, J. N. W. N., Andreassen, O. A., McGovern, D. P., Karlsen, T. H., Barrett, J. C., Parkes, M., Brown, M. A. & Franke, A., May 2016, In: Nature Genetics. 48, 5, p. 510-518 9 p.

    Research output: Contribution to journalArticlepeer-review

  47. Health and population effects of rare gene knockouts in adult humans with related parents

    Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., Giorda, K., Griffiths, C. J., Hemingway, H., Jia, Z., Kelly, M. A., Khawaja, H. A., Lek, M., McCarthy, S., McEachan, R., O'Donnell-Luria, A. & 16 others, Paigen, K., Parisinos, C. A., Sheridan, E., Southgate, L., Tee, L., Thomas, M., Xue, Y., Schnall-Levin, M., Petkov, P. M., Tyler-Smith, C., Maher, E. R., Trembath, R. C., MacArthur, D. G., Wright, J., Durbin, R. & van Heel, D. A., 22 Apr 2016, In: Science. 352, 6284, p. 474-477 4 p.

    Research output: Contribution to journalArticlepeer-review

  48. Activating CARD14 Mutations are Associated with Generalised Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris

    Berki, D. M., Liu, L., Choon, S-E., David Burden, A., Griffiths, C. E., Navarini, A. A., Tan, E. S., Irvine, A. D., Ranki, A., Ogo, T., Petrof, G., Mahil, S. K., Duckworth, M., Allen, M. H., Vito, P., Trembath, R., McGrath, J., Smith, C. H., Capon, F. & Barker, J. N., 1 Dec 2015, In: Journal of Investigative Dermatology. 135, p. 2964–297

    Research output: Contribution to journalArticlepeer-review

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