Edinburgh Research Explorer

Prof Andrew Jackson

Professorial Fellow of Human Genetics, Programme Leader

  1. 2020
  2. 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

  3. 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

  4. 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

  5. 2019
  6. 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 Nov 2019, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  7. 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

  8. 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

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

    Deciphering Developmental Disorders Study, UK10K Consortium & NIHR BioResource, 11 Apr 2019, In : American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journalArticle

  10. ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

    Handley, M., Reddy, K., Wills, J., Rosser, E., Kamath, A., Halachev, M., Falkous, G., Williams, D., Cox, P., Meynert, A., Raymond, E., Morrison, H., Brown, S., Allan, E., Aligianis, I., Jackson, A. P., Ramsahoye, B. H., Von Kriegsheim, A., Taylor, R. W., Finch, A. J. & 1 others, FitzPatrick, D. R., 11 Mar 2019, In : PLoS Genetics.

    Research output: Contribution to journalArticle

  11. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

    University of Washington Center for Mendelian Genomics, 7 Mar 2019, In : American Journal of Human Genetics.

    Research output: Contribution to journalArticle

  12. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

    Haworth, S., Shapland, C. Y., Hayward, C., Prins, B. P., Felix, J. F., Medina-Gómez, C., Rivadeneira, F., Wang, C., Ahluwalia, T. S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffman, J., Min, J. L., Sass, L. & 17 others, Timmers, P. R. H. J., UK10K Consortium, Davey Smith, G., Fisher, S. E., Wilson, J. F., Cole, T. J., Fernandez-Orth, D., Bonnelykke, K., Bisgaard, H., Pennell, C. E., Jaddoe, V. WV., Dedoussis, G., Timpson, N., Zeggini, E., Vitart, V., St Pourcain, B. & McKechanie, A. G., 21 Jan 2019, In : Nature Communications. 10, 16 p., 357.

    Research output: Contribution to journalArticle

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