Edinburgh Research Explorer

Dr Louise Bicknell

(Former employee or visitor)

  1. 2019
  2. 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

  3. 2017
  4. Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke

    McGlasson, S., Rannikmae, K., Bevan, S., Logan, C., Bicknell, L., Jury, A., Jackson, A., Markus, H. S., Sudlow, C. & Hunt, D., 2 Nov 2017, In : Wellcome Open Research . 2, p. 106

    Research output: Contribution to journalArticle

  5. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

    Reynolds, J., Bicknell, L., Carroll, P., Higgs, M., Shaheen, R., Murray, J., Papadopoulos, D. K., Leitch, A., Murina, O., Tarnauskaite, Z., Wessel, S. R., Zlatanou, A., Vernet, A., Von Kriegsheim, A., Mottram, R. M., Logan, C., Bye, H., Li, Y., Brean, A., Maddirevula, S. & 41 othersChallis, R., Skouloudaki, K., Almoisheer, A., Alsaif, H. S., Amar, A., Prescott, N. J., Bober, M., Duker, A., Faqeih, E., Seidahmed, M. Z., Tala, S. A., Alswaid, A., Ahmed, S., Al-Aama, J. Y., Altmuller, J., Al Balwi, M., Brady, A., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B. D., Hobson, E., Nurnberg, P., Percin, F., Peron, A., Spaccini, L., Quigley, A., Thakur, S., Wise, C. A., Yoon, G., Alnemer, M., Yigit, G., Taylor, A. M. R., Reijns, M., Simpson, M. A., Cortez, D., Alkuraya, F. S., Mathew, C. G., Jackson, A. & Stewart, G. S., Apr 2017, In : Nature Genetics.

    Research output: Contribution to journalArticle

  6. 2016
  7. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

    The DDD Study, Wood, A., Vagnarelli, P. & Jackson, A., Oct 2016, In : Genes & Development.

    Research output: Contribution to journalArticle

  8. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

    Fenwick, A. L., Kliszczak, M., Cooper, F., Murray, J., Sanchez-Pulido, L., Twigg, S. R. F., Goriely, A., McGowan, S. J., Miller, K. A., Taylor, I. B., Logan, C., Bozdogan, S., Danda, S., Dixon, J., Elsayed, S. M., Elsobky, E., Gardham, A., Hoffer, M. J. V., Koopmans, M., McDonald-McGinn, D. M. & 14 othersSanten, G. W. E., Savarirayan, R., de Silva, D., Vanakker, O., Wall, S. A., Wilson, L. C., Yuregir, O. O., Zackai, E. H., Ponting, C. P., Jackson, A. P., Wilkie, A. O. M., Niedzwiedz, W., Bicknell, L. S. & WGS500 Consortium, 7 Jul 2016, In : American Journal of Human Genetics. 99, 1, p. 125-38 14 p.

    Research output: Contribution to journalArticle

  9. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

    Kroigard, A., Jackson, A., Bicknell, L., Baple, E., Brusgaard, K., Hansen, L. & Ousager, L., Apr 2016, In : Clinical dysmorphology.

    Research output: Contribution to journalArticle

  10. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

    MacDonald, M., Murina, O., Leitch, A., Higgs, M., Bicknell, L., Yigit, G., Blackford, A., Zlatanou, A., Mackenzie, K., Reddy, K., Halachev, M., McGlasson, S., Reijns, M., Fluteau, A., Martin, C-A., Sabbioneda, S., Elcioglu, N., Altmuller, J., Thiele, H., Greenhalge, L. & 10 othersChessa, L., Maghnie, M., Salim, M., Bober, M. B., Nurnberg, P., Jackson, S. P., Hurles, M., Wollnik, B., Stewart, G. S. & Jackson, A., Jan 2016, In : Nature Genetics.

    Research output: Contribution to journalArticle

  11. 2015
  12. Mutations in the NHEJ component XRCC4 cause primordial dwarfism

    Murray, J. E., van der Burg, M., IJspeert, H., Carroll, P., Wu, Q., Ochi, T., Leitch, A., Miller, E. S., Kysela, B., Jawad, A., Bottani, A., Brancati, F., Cappa, M., Cormier-Daire, V., Deshpande, C., Faqeih, E. A., Graham, G. E., Ranza, E., Blundell, T. L., Jackson, A. P. & 2 othersStewart, G. S. & Bicknell, L. S., 5 Mar 2015, In : American Journal of Human Genetics. 96, 3, p. 412-24 13 p.

    Research output: Contribution to journalArticle

  13. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

    Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., Chapgier, A., Vernay, B., Bader, D. M., Deshpande, C., O' Sullivan, M., Ocaka, L., Stanescu, H., Stewart, H. S. & 13 othersHildebrandt, F., Otto, E., Johnson, C. A., Szymanska, K., Katsanis, N., Davis, E., Kleta, R., Hubank, M., Doxsey, S., Jackson, A., Stupka, E., Winey, M. & Beales, P. L., Mar 2015, In : Journal of Medical Genetics. 52, 3, p. 147-156 10 p.

    Research output: Contribution to journalArticle

  14. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

    Guenther, C., Kind, B., Reijns, M. A. M., Berndt, N., Martinez-Bueno, M., Wolf, C., Tuengler, V., Chara, O., Lee, Y. A., Huebner, N., Bicknell, L., Blum, S., Krug, C., Schmidt, F., Kretschmer, S., Koss, S., Astell, K. R., Ramantani, G., Bauerfeind, A., Morris, D. L. & 25 othersGraham, D. S. C., Bubeck, D., Leitch, A., Ralston, S. H., Blackburn, E. A., Gahr, M., Witte, T., Vyse, T. J., Melchers, I., Mangold, E., Noethen, M. M., Aringer, M., Kuhn, A., Luethke, K., Unger, L., Bley, A., Lorenzi, A., Isaacs, J. D., Alexopoulou, D., Conrad, K., Dahl, A., Roers, A., Alarcon-Riquelme, M. E., Jackson, A. P. & Lee-Kirsch, M. A., Jan 2015, In : Journal of Clinical Investigation. 125, 1, p. 413-424 12 p.

    Research output: Contribution to journalArticle

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