Group Koeleman, section Genetics

Research output

Research output per year 2007 2015 2016 2017 2019 2020 2023

• 100 Article
• 8 Comment/Letter to the editor
• 3 Doctoral thesis 1 (Research UU / Graduation UU)
• 1 Editorial
• 2 More
  • 1 Letter
  • 1 Doctoral thesis 2 (Research NOT UU / Graduation UU)

Research output per year

Research output per year

Search results

• 2018

  Correction to: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (Genetics in Medicine, (2018), 10.1038/s41436-018-0268-1)

  Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M. L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A. L., Brunga, L., Ceulemans, B., Coubes, C., & 66 othersCristancho, A. G., Cunningham, F., Dehouck, M. B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M. L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J. M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., 2 Oct 2018, In: Genetics in Medicine. 8, 2 p.

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

  • Licensure 100%
  • Brain Diseases 87%
  • Medicine 67%
• 2017

  Cognitive training program to treat tinnitus

  Stevelink, R., 1 Aug 2017, In: JAMA Otolaryngology - Head and Neck Surgery. 143, 8, 1 p.

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

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., Gormley, P., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J. A., Klein, K. M., Koeleman, B., Komarek, V., Krause, R., & 111 othersKuhlenbäumer, G., Leguern, E., Lehesjoki, A-E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H., Pal, D., Palotie, A., Pendziwiat, M., Robbiano, A., Roelens, F., Rosenow, F., Selmer, K., Serratosa, J. M., Sisodiya, S. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., von Spiczak, S., Weber, Y. G., Weckhuysen, S., Zara, F., Abou-Khalil, B., Alldredge, B. K., Andermann, E., Andermann, F., Amrom, D., Bautista, J. F., Berkovic, S. F., Bluvstein, J., Boro, A., Cascino, G., Consalvo, D., Crumrine, P., Devinsky, O., Dlugos, D., Epstein, M. P., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glauser, T., Glynn, S., Haas, K., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., Kuzniecky, R., Lowenstein, D. H., McGuire, S. M., Motika, P. V., Novotny, E. J., Ottman, R., Paolicchi, J. M., Parent, J., Park, K., Poduri, A., Sadleir, L. G., Scheffer, I. E., Shellhaas, R. A., Sherr, E., Shih, J. J., Singh, R., Sirven, J., Smith, M. C., Sullivan, J., Thio, L. L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Allen, A. S., Berkovic, S. F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Goldstein, D. B., Han, Y., Heinzen, E. L., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., Nieh, S. E., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A., Ruzzo, E. K., Scheffer, I. E. & Sherr, E., 5 Jan 2017, In: American Journal of Human Genetics. 100, 1, p. 179 1 p.

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

  • Human Genetics 100%
  • Brain Diseases 77%
  • Names 77%
  • Synaptic Transmission 76%
  • Epilepsy 68%

• Genetics of common forms of epilepsy

  Koeleman, B. P. C., 1 Feb 2017, In: Lancet Neurology. 16, p. 101-102 2 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
  1 Citation (Scopus)
• 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)
• 2011

  Erratum: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus (Nat. Genet. (2010) 42 (426-429)

  Radstake, T. R. D. J., Gorlova, O., Rueda, B., Martin, J. E., Alizadeh, B. Z., Palomino-Morales, R., Coenen, M. J., Vonk, M. C., Voskuyl, A. E., Schuerwegh, A. J., Broen, J. C., Van Riel, P. L. C. M., Van'T Slot, R., Italiaander, A., Ophoff, R. A., Riemekasten, G., Hunzelmann, N., Simeon, C. P., Ortego-Centeno, N., González-Gay, M. A., & 44 othersGonzález-Escribano, M. F., Spanish Scleroderma Group, S. G., Airo, P., Van Laar, J., Herrick, A., Worthington, J., Hesselstrand, R., Smith, V., De Keyser, F., Houssiau, F., May Chee, M., Madhok, R., Shiels, P., Westhovens, R., Kreuter, A., Kiener, H., De Baere, E., Witte, T., Padykov, L., Klareskog, L., Beretta, L., Scorza, R., Lie, B. A., Hoffmann-Vold, A. M., Carreira, P., Varga, J., Hinchcliff, M., Gregersen, P. K., Lee, A. T., Ying, J., Han, Y., Weng, S. F., Amos, C. I., Wigley, F. M., Hummers, L., Nelson, J. L., Agarwal, S. K., Assassi, S., Gourh, P., Tan, F. K., Koeleman, B. P. C., Arnett, F. C., Martin, J. & Mayes, M. D., 1 May 2011, In: Nature Genetics. 43, 5, 1 p.

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

• Functional variants of Fc gamma receptor (FCGR2A) and FCGR3A are not associated with susceptibility to systemic sclerosis in a large European study (EUSTAR) (Journal of Rheumatology (2010) 37 (1673-1679))

  Alizadeh, B. Z., Broen, L., Rueda, B., Hesselstrand, R., Wuttge, D., Simeon, C., Ortego-Centeno, N., Gonzalez-Gay, M. A., Pros, A., Herrick, A., Worthington, J., Denton, C., Fonseca, C., Riemekasten, G., Vonk, M. C., Van Den Hoogen, F., Guiducci, S., Matucci-Cerinic, M., Scorza, R., Beretta, L., & 5 othersAiró, P., Coenen, M., Martin, J., Koeleman, B. P. C. & Radstake, T. R. D. J., 1 Apr 2011, In: Journal of Rheumatology. 38, 4, 1 p.

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

  Open Access
• 2010

  Functional variants of Fc gamma receptor (FCGR2A) and FCGR3A are not associated with susceptibility to systemic sclerosis in a large European study (EUSTAR) (Journal of Rheumatology (2010))

  Alizadeh, B. Z., Broen, J., Rueda, B., Hesselstrand, R., Wuttge, D., Simeon, C., Ortego-Centeno, N., Gonzalez-Gay, M., Pros, A., Herrick, A., Worthington, J., Denton, C., Fonseca, C., Riemekasten, G., Vonk, M. C., Van Den Hoogen, F., Guiducci, S., Matucci-Cerinic, M., Scorza, R., Beretta, L., & 5 othersAiró, P., Coenen, M., Martin, J., Koeleman, B. P. C. & Radstake, T. R. D. J., 1 Sept 2010, In: Journal of Rheumatology. 37, 9, 1 p.

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

  Open Access