King's College London

• GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

  NIHR BioResource & Genomics England Research Consortium Collaborators, Dec 2022, In: Nature Communications. 13, 1, 4840.

  Research output: Contribution to journal › Article › peer-review

• 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report

  The 100,000 Genomes Project Pilot Investigators, 11 Nov 2021, In: New England Journal of Medicine. 385, 20, p. 1868-1880 13 p.

  Research output: Contribution to journal › Article › peer-review

• 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 othersCalleja, 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 journal › Article › peer-review

• Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy

  Bourke, J. P., Bueser, T. & Quinlivan, R., 16 Oct 2018, In: Cochrane Database of Systematic Reviews. 2018, 10, CD009068.

  Research output: Contribution to journal › Review article › peer-review

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