Edinburgh Research Explorer

Dr Rachel Challis

(Former employee or visitor)

  1. 2019
  2. Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions

    Heyn, P., Logan, C., Fluteau, A., Challis, R., Auchynnikava, T., Martin, C-A., Marsh, J., Taglini, F., Kilanowski, F., Parry, D., Cormier-Daire, V., Fong, C-T., Gibson, K., Hwa, V., Ibanez, L., Robertson, S. P., Sebastiani, G., Rappsilber, J., Allshire, R., Reijns, M. & 3 othersDauber, A., Sproul, D. & Jackson, A., 5 Jan 2019, In : Nature Genetics.

    Research output: Contribution to journalArticle

  3. 2018
  4. DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

    Logan, C., Murray, J., Parry, D., Robertson, A., Bellelli, R., Tarnauskaite, Z., Challis, R., Cleal, L., Borel, V., Fluteau, A., Santoyo-Lopez, J., SGP Consortium, Aitman, T., Barroso, I., Basel, D., Bicknell, L., Goel, H., Hu, H., Huff, C., Hutchison, M. & 25 othersJoyce, C., Knox, R., Langlois, S., McCandless, S., McCarrier, J., Morrissey, R., Murphy, N., Netchine, I., O'Connell, S. M., Olney, A. H., Paria, N., Rosenfeld, J. A., Sherlock, M., Syverson, E., White, P., Wise, C., Yu, Y., Zacharin, M., Banerjee, I., Reijns, M., Bober, M. B., Semple, R., Boulton, S. J., Rios, J. J. & Jackson, A., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 1038-1044

    Research output: Contribution to journalArticle

  5. CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

    Zimmermann, M., Murina, O., Reijns, M., Agathanggelou, A., Challis, R., Tarnauskaite, Z., Muir, M., Fluteau, A., Aregger, M., McEwan, A., Yuan, W., Clarke, M., Lambros, M., Paneesha, S., Moss, P., Chandrashekhar, M., Angers, S., Moffat, J., Brunton, V., Hart, T. & 4 othersde Bono, J., Stankovic, T., Jackson, A. & Durocher, D., 4 Jul 2018, In : Nature.

    Research output: Contribution to journalArticle

  6. 2017
  7. 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

  8. 2016
  9. Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature

    Kavanagh, D., McGlasson, S., Jury, A., Williams, J., Scolding, N., Bellamy, C., Gunther, C., Ritchie, D., Gale, D. P., Kanwar, Y. S., Challis, R., Buist, H., Overell, J., Weller, B., Flossmann, O., Blunden, M., Meyer, E. P., Krucker, T., Evans, S. J. W., Campbell, I. L. & 3 othersJackson, A. P., Chandran, S. & Hunt, D. P. J., 23 Sep 2016, In : Blood.

    Research output: Contribution to journalArticle

  10. 2014
  11. Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN

    Wong, E. K. S., Anderson, H. E., Herbert, A. P., Challis, R. C., Brown, P., Reis, G. S., Tellez, J. O., Strain, L., Fluck, N., Humphrey, A., Macleod, A., Richards, A., Ahlert, D., Santibanez-Koref, M., Barlow, P. N., Marchbank, K. J., Harris, C. L., Goodship, T. H. J. & Kavanagh, D., Nov 2014, In : Journal of the American Society of Nephrology. 25, 11, p. 2425-33 9 p.

    Research output: Contribution to journalArticle