Research output

Research output per year 1997 2009 2011 2014 2017 2019 2021 2023 2024

• 110 Article
• 23 Poster
• 9 Abstract
• 5 Comment/Letter to the editor
• 7 More
  • 4 Review article
  • 2 Meeting Abstract
  • 1 Doctoral thesis 1 (Research UU / Graduation UU)

Research output per year

Research output per year

Search results

• 2021

  Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

  Apr 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 4, p. 796 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

  • Brain Diseases 100%
  • Medicine 76%
• 2019

  Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)

  15 Feb 2019, In: Nature Communications. 10, 1, 883.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

  Open Access

  File

  • document markup languages 100%
  • Megalencephaly 79%
  • mutations 65%
  • Communication 50%
  • Mutation 47%

• Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in Medicine (2019) 21(2) (398–408), (S1098360021046268), (10.1038/s41436-018-0060-2))

  Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S., & 68 othersBalestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E. H., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., 1 Aug 2019, In: Genetics in medicine : official journal of the American College of Medical Genetics. 21, 8, p. 1896 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

  • Epilepsy 100%
  • Medicine 86%

• Correction to: The landscape of epilepsy-related GATOR1 variants (Genetics in Medicine, (2018), 10.1038/s41436-018-0060-2)

  Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Martin, A. D. S., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S., & 68 othersBalestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F., Braun, K., Jong, D. D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d’Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. D., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., Jul 2019, In: Genetics in Medicine. 21, 7, p. P1671-P1671 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

  • Epilepsy 100%
  • Publications 98%
  • Medicine 86%
• 2016

  Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

  Boerma, R. S., Braun, K. P., van den Broek, M. P. H., van Berkestijn, F. M. C., Swinkels, M. E., Hagebeuk, E. O., Lindhout, D., van Kempen, M., Boon, M., Nicolai, J., de Kovel, C. G., Brilstra, E. H. & Koeleman, B. P. C., 1 Jan 2016, In: Neurotherapeutics . 13, 1, p. 238 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

  Open Access

  File
  1 Citation (Scopus)