Professor Richard Trembath Academics Executive Dean, Faculty of Life Sciences & Medicine Contact details dean-folsm@kcl.ac.uk +44 (0) 20 7848 6391
Whole-genome sequencing of patients with rare diseases in a national health system NIHR BioResource for the 100,000 Genomes Project, 2 Jul 2020, In : Nature. 583, 7814, p. 96-102 7 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1038/s41586-020-2434-2 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 journal - Article. DOIs: https://doi.org/10.7554/eLife.54363 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 journal - Article. DOIs: https://doi.org/10.1093/ije/dyz174 A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Genomics England Research Consortium, 1 Jan 2020, In : GENETICS IN MEDICINE. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1038/s41436-019-0743-3 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 journal - Article. DOIs: https://doi.org/10.1093/hmg/ddz145 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 journal - Article. DOIs: https://doi.org/10.1111/ajt.15326 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 journal - Article. DOIs: https://doi.org/10.1093/hmg/ddz047 Genetic Studies 2019 Trembath, R. C., Hysi, P. & Langman, C. M., 20 Jun 2019, (Accepted/In press) In : Nature Communications. Research output: Contribution to journal - Article 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 journal - Article. DOIs: https://doi.org/10.1016/j.ajhg.2019.03.005 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 journal - Article. DOIs: https://doi.org/10.1183/13993003.01805-2018 View all publications
9 July 2020 Professor Richard Trembath appointed Senior Vice President and Provost (Health) Professor Richard Trembath has been appointed as Senior Vice President and Provost (Health) and…