Personal profile

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

    Genomics England Research Consortium, Parry, D. A., Martin, C. A., Greene, P., Marsh, J. A., Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A. & Elgar, G. & 78 others, Foulger, R. E., Fowler, T., Furió-Tarí, P., Giess, A., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. B., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Orioli, A., Patch, C., Perez-Gil, D., Pereira, M. B., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Smith, S. C., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Tanguy, M., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Blyth, M., Cox, H., Donnelly, D., Greenhalgh, L., Greville-Heygate, S., Harrison, V., Lachlan, K., McKenna, C., Quigley, A. J., Rea, G., Robertson, L., Suri, M. & Jackson, A. P., 29 Jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 3, p. 408-414 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access