Edinburgh Research Explorer

Andrew Jackson

Professorial Fellow of Human Genetics, Programme Leader

  1. 2020
  2. PRIM1 Deficiency Causes a Distinctive Primordial Dwarfism Syndrome

    The Scottish Genomes Partnership, Káposzta, R., Merő, G., Nagy, A., Orlik, B., Kovács-Pászthy, B., Quigley, A. J., Riszter, M., Rankin, J., Reijns, M. A. M., Szakszon, K. & Jackson, A. P., 15 Oct 2020, In : Genes & Development.

    Research output: Contribution to journalArticle

  3. Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy

    Genomics England Research Consortium, Blyth, M., Cox, H., Donnelly, D. E., Greenhalgh, L., Greville-Heygate, S., Harrison, V., Lachlan, K., McKenna, C., Quigley, A., Rea, G., Robertson, L., Suri, M. & Jackson, A. P., 9 Oct 2020, In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  4. DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain

    Zhang, J., Bellani, M. A., James, R. C., Pokharel, D., Zhang, Y., Reynolds, J. J., McNee, G. S., Jackson, A. P., Stewart, G. S. & Seidman, M. M., 7 Aug 2020, In : Nature Communications. 11, 1, p. 3951

    Research output: Contribution to journalArticle

  5. Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

    Tamayo Orrego, L., Gallo, D., Racicot, F., Bemmo, A., Mohan, S., Ho, B., Salameh, S., Hoang, T., Jackson, A. P., Brown, G. W. & Charron, F., 20 Jul 2020, In : nature cancer.

    Research output: Contribution to journalArticle

  6. Growth in individuals with Saul-Wilson syndrome

    Ferreira, C. R., Niiler, T., Duker, A. L., Jackson, A. P. & Bober, M. B., 11 Jul 2020, In : American Journal of Medical Genetics Part A.

    Research output: Contribution to journalArticle

  7. Defining the clinical phenotype of Saul-Wilson syndrome

    Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., Tiller, G. E., Wolfe, L. A., Merideth, M., Carvalho, D. R., Duker, A. L., Bratke, H., Haug, M. G., Rohena, L., Hove, H. B., Xia, Z-J., Ng, B. G., Freeze, H. H., Gabriel, M., Russi, A. H. S. & 11 others, Brick, L., Kozenko, M., Earl, D. L., Tham, E., Nishimura, G., Phillips, J. A., Gahl, W. A., Hamid, R., Jackson, A., Grigelioniene, G. & Bober, M. B., 1 May 2020, In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  8. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

    Knapp, K. M., Sullivan, R., Murray, J., Gimenez, G., Arn, P., D'Souza, P., Gezdirici, A., Wilson, W. G., Jackson, A., Ferreira, C. R. & Bicknell, L., 1 Mar 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  9. 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

  10. 2019
  11. Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly

    Hull, S., Arno, G., Ostergaard, P., Pontikos, N., Robson, A. G., Webster, A. R., Hogg, C. R., Wright, G. A., Henderson, R. H. H., Martin, C-A., Jackson, A. P., Mansour, S., Moore, A. T. & Michaelides, M., 8 May 2019, In : American journal of ophthalmology.

    Research output: Contribution to journalArticle

  12. 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

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