Sandra Jansen

DRS.

20152019
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Research Output 2015 2019

  • 6 Article
  • 2 Erratum
  • 1 Meeting Abstract
  • 1 Comment/Letter to the editor

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 othersde Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H. L., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., López-González, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., 1 Sep 2019, In : Genetics in Medicine. 21, 9, p. 2160-2161

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Correction to: 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)

Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A. & 41 othersAgbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Jansen, S., Deriziotis, P., Faivre, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E., Campeau, P. M. & The DDD study, 1 Dec 2019, In : Nature Communications. 10, 1, 883.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Reynhout, S., Jansen, S., Haesen, D., van Belle, S., de Munnik, S. A., Bongers, E. M. H. F., Schieving, J. H., Marcelis, C., Amiel, J., Rio, M., Mclaughlin, H., Ladda, R., Sell, S., Kriek, M., Peeters-Scholte, C. M. P. C. D., Terhal, P. A., van Gassen, K. L., Verbeek, N., Henry, S., Scott Schwoerer, J. & 17 othersMalik, S., Revencu, N., Ferreira, C. R., Macnamara, E., Braakman, H. M. H., Brimble, E., Ruznikov, M. R. Z., Wagner, M., Harrer, P., Wieczorek, D., Kuechler, A., Tziperman, B., Barel, O., de Vries, B. B. A., Gordon, C. T., Janssens, V. & Vissers, L. E. L. M., 3 Jan 2019, In : American journal of human genetics. 104, 1, p. 139-156

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Erratum: De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (The American Journal of Human Genetics (2019) 104(1) (139–156), (S0002929718304531) (10.1016/j.ajhg.2018.12.002))

Reynhout, S., Jansen, S., Haesen, D., van Belle, S., de Munnik, S. A., Bongers, E. M. H. F., Schieving, J. H., Marcelis, C., Amiel, J., Rio, M., Mclaughlin, H., Ladda, R., Sell, S., Kriek, M., Peeters-Scholte, C. M. P. C. D., Terhal, P. A., van Gassen, K. L., Verbeek, N., Henry, S., Schwoerer, J. S. & 17 othersMalik, S., Revencu, N., Ferreira, C. R., Macnamara, E., Braakman, H. M. H., Brimble, E., Ruzhnikov, M. R. Z., Wagner, M., Harrer, P., Wieczorek, D., Kuechler, A., Tziperman, B., Barel, O., de Vries, B. B. A., Gordon, C. T., Janssens, V. & Vissers, L. E. L. M., 7 Feb 2019, In : American journal of human genetics. 104, 2, p. 357

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

van der Donk, R., Jansen, S., Schuurs-Hoeijmakers, J. H. M., Koolen, D. A., Goltstein, L. C. M. J., Hoischen, A., Brunner, H. G., Kemmeren, P., Nellåker, C., Vissers, L. E. L. M., de Vries, B. B. A. & Hehir-Kwa, J. Y., 1 Aug 2019, In : Genetics in Medicine. 21, 8, p. 1719-1725

Research output: Contribution to journalArticleAcademicpeer-review

Open Access