Edinburgh Research Explorer

Dr Louise Bicknell

(Former employee or visitor)

  1. 2017
  2. 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

  3. 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 others Challis, 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

  4. 2016
  5. 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

  6. 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 others Santen, 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

  7. 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

  8. 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 others Chessa, 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

  9. 2015
  10. 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 others Stewart, 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

  11. 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 others Hildebrandt, 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

  12. 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 others Graham, 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

  13. 2014
  14. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

    Martin, C-A. , Ahmad, I. , Klingseisen, A. , Hussain, M. S. , Bicknell, L. S. , Leitch, A. , Nürnberg, G. , Toliat, M. R. , Murray, J. E. , Hunt, D. , Khan, F. , Ali, Z. , Tinschert, S. , Ding, J. , Keith, C. , Harley, M. E. , Heyn, P. , Müller, R. , Hoffmann, I. , Daire, V. C. & 18 others Dollfus, H., Dupuis, L., Bashamboo, A., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A. T., Saggar, A., Schlechter, C., Weleber, R., Thiele, H., Altmüller, J., Höhne, W., Hurles, M. E., Noegel, A. A., Baig, S. M., Nürnberg, P. & Jackson, A. P. 26 Oct 2014 In : Nature Genetics. 46, p. 1283–1292

    Research output: Contribution to journalArticle

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