Search results

• 2017

  Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

  Epi4K Consortium, Epilepsy Phenome Genome Project, EuroEPINOMICS RES Consortium, Allen, A. S., Berkovic, S. F., Bridgers, J., Cossette, P., Dlugos, D., Epstein, M. P., Glauser, T., Goldstein, D. B., Heinzen, E. L., Jiang, Y., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., O'Brien, T. J. & Ottman, R. & 33 others, Petrou, S., Petrovski, S., Poduri, A., Ren, Z., Scheffer, I. E., Sherr, E., Wang, Q., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H. & Pal, D., 17 May 2017, (E-pub ahead of print) 7 ed. 6 p. (European Journal of Human Genetics)

  Research output: Book/Report › Report › peer-review

  • Brain Disease 100%
  • Transmission Disequilibrium Test 100%
  • Gene 75%
  • Patient 50%
  • Infantile Spasm 50%
  7 Citations (Scopus)