Sandra Jansen

DRS.

20152019
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Research Output 2015 2019

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., 2019, In : Genetics in Medicine. 21, 9, p. 2160-2161

Research output: Contribution to journalErratumAcademicpeer-review

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., 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., 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., 2019, In : Genetics in Medicine. 21, 8, p. 1719-1725

Research output: Contribution to journalArticleAcademicpeer-review

Open Access