Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Crow, Y. J., Leitch, A., Hayward, B. E., Garner, A., Parmar, R., Griffith, E., Ali, M., Semple, C., Aicardi, J., Babul-Hirji, R., Baumann, C., Baxter, P., and 33 others.Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nature Genet. 38: 910-916, 2006. [PubMed: 16845400] [Full Text: https://doi.org/10.1038/ng1842\]
  2. Crow, Y. J., Zaki, M. S., Abdel-Hamid, M. S., Abdel-Salam, G., Boespflug-Tanguy, O., Cordeiro, N. J. V., Gleeson, J. G., Gowrinathan, N. R., Laugel, V., Renaldo, F., Rodriguez, D., Livingston, J. H., Rice, G. I.Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics 45: 386-391, 2014. [PubMed: 25243380] [Full Text: https://doi.org/10.1055/s-0034-1389161\]
  3. Kind, B., Muster, B., Staroske, W., Herce, H. D., Sachse, R., Rapp, A., Schmidt, F., Koss, S., Cardoso, M. C., Lee-Kirsch, M. A.Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutieres syndrome. Hum. Molec. Genet. 23: 5950-5960, 2014. [PubMed: 24986920] [Full Text: https://doi.org/10.1093/hmg/ddu319\]
  4. Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Luttgen, S., Muhlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortum, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J., Hempel, M.Exome sequencing in children. Dtsch. Arztebl. Int. 116: 197-204, 2019. [PubMed: 31056085] [Full Text: https://doi.org/10.3238/arztebl.2019.0197\]
  5. Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., and 106 others.Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am. J. Hum. Genet. 81: 713-725, 2007. [PubMed: 17846997] [Full Text: https://doi.org/10.1086/521373\]
  6. Zimmermann, M., Murina, O., Reijns, M. A. M., Agathanggelou, A., Challis, R., Tarnauskaite, Z., Muir, M., Fluteau, A., Aregger, M., McEwan, A., Yuan, W., Clarke, M., and 12 others.CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions. Nature 559: 285-289, 2018. [PubMed: 29973717] [Full Text: https://doi.org/10.1038/s41586-018-0291-z\]