Research output

Research output per year 1996 2009 2011 2013 2019 2023 2025

• 100 Article
• 23 Poster
• 8 Abstract
• 6 Letter
• 12 More
  • 4 Comment/Letter to the editor
  • 2 Meeting Abstract
  • 2 Review article
  • 1 Book editing
  • 1 Book
  • 1 Chapter
  • 1 Foreword/postscript

Research output per year

Research output per year

Search results

• 2025

  Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants

  van Gisbergen, M. W., Rossel, S. V. J., Theunissen, T. E. J., Janssen, R., Kaseke, T., van der Smagt, J. J., Steijlen, P. M., Vreeburg, M., Gostynski, A. H. & van Geel, M., Mar 2025, In: British Journal of Dermatology. 192, 3, p. 544-546 3 p.

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

  Open Access

  File
• 2023

  Erratum: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (Genetics in Medicine (2023) 25(10), (S1098360023009401), (10.1016/j.gim.2023.100927))

  Harms, F. L., Dingemans, A. J. M., Hempel, M., Pfundt, R., Bierhals, T., Casar, C., Müller, C., Niermeijer, J. M. F., Fischer, J., Jahn, A., Hübner, C., Majore, S., Agolini, E., Novelli, A., van der Smagt, J., Ernst, R., van Binsbergen, E., Mancini, G. M. S., van Slegtenhorst, M. & Barakat, T. S. & 7 others, Wakeling, E. L., Kamath, A., Downie, L., Pais, L., White, S. M., de Vries, B. B. A. & Kutsche, K., Nov 2023, In: Genetics in Medicine. 25, 11, 100964.

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

  • Developmental Delay 100%
  • Hypospadia 100%
  • Craniofacial Malformation 100%
  • Genetics 100%
• 2022

  Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia

  Noordermeer, T., van Asten, I., Schutgens, R. E. G., Lakerveld, A. J., Koekman, C. A., Hage, K. Y., Sebastian, S. A. E., Huisman, A., van den Heuvel, D. J., Gerritsen, H. C., Korporaal, S. J. A., Bierings, M., van der Smagt, J. J., van Gijn, M. E. & Urbanus, R. T., 14 Jun 2022, In: Blood Advances. 6, 11, p. 3347-3351 5 p.

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

  Open Access

  File
  5 Downloads (Pure)
• 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 others, Cristancho, 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

  • Medicine 100%
  • Brain Disease 100%
  • Genetics 100%