Search results

• 2017

  Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

  Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., Papadopoulos, D. K., Leitch, A., Murina, O., Tarnauskaitė, Ž., Wessel, S. R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R. M. A., Logan, C. V., Bye, H., Li, Y., Brean, A., Maddirevula, S., & 42 othersChallis, R. C., Skouloudaki, K., Almoisheer, A., Alsaif, H. S., Amar, A., Prescott, N. J., Bober, M. B., Duker, A., Faqeih, E., Seidahmed, M. Z., Al Tala, S., Alswaid, A., Ahmed, S., Al-Aama, J. Y., Altmüller, J., Al Balwi, M., Brady, A. F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B. D., Hobson, E., Nürnberg, P., Percin, E. F., Peron, A., Spaccini, L., Quigley, A. J., Thakur, S., Wise, C. A., Yoon, G., Alnemer, M., Tomancak, P., Yigit, G., Taylor, A. M. R., Reijns, M. A. M., Simpson, M. A., Cortez, D., Alkuraya, F. S., Mathew, C. G., Jackson, A. P. & Stewart, G. S., 1 Apr 2017, In: Nature Genetics. 49, 4, p. 537-549

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Protein 100%
  • Chromosome Instability 49%
  • Genome Instability 49%
  • Replisome 49%
  77 Citations (Scopus)