Sander Groffen

DR.IR.

ANS - Cellular & Molecular Mechanisms Affiliatie VU Other Academic Staff, Human Genetics

Specialization

Focus of research

Latest publications

delta-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy
van Rootselaar, A.-F., Groffen, A. J., de Vries, B., Callenbach, P. M. C., Santen, G. W. E., Koelewijn, S., Vijfhuizen, L. S., Buijink, A., Tijssen, M. A. J. & van den Maagdenberg, A. M. J. M., 1 Dec 2017, In: Neurology. 89, 23, p. 2341-2350 10 p.
Research output: Contribution to journal › Article* › Academic › peer-review
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
Tan-Sindhunata, M. B., Mathijssen, I. B., Smit, M., Baas, F., de Vries, J. I., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E., Meijers-Heijboer, H., Waisfisz, Q., Weiss, M. M., Groffen, A. J. & Matthijssen, I. B., 14 Sept 2015, In: European journal of human genetics. 23, 9, p. 1151-1157 7 p.
Research output: Contribution to journal › Article* › Academic › peer-review
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., Van De Kamp, J., Nieuwint, A., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., Van Spaendonk, R. M. L., Shen, Y., Wu, B. L., Yu, T. & Yu, Y. & 43 others, Chiang, C., Gusella, J. F., Lindgren, A. M., Morton, C. C., Van Binsbergen, E., Bulk, S., Van Rossem, E., Vanakker, O., Armstrong, R., Park, S. M., Greenhalgh, L., Maye, U., Neill, N. J., Abbott, K. M., Sell, S., Ladda, R., Farber, D. M., Bader, P. I., Cushing, T., Drautz, J. M., Konczal, L., Nash, P., De Los Reyes, E., Carter, M. T., Hopkins, E., Marshall, C. R., Osborne, L. R., Gripp, K. W., Thrush, D. L., Hashimoto, S., Gastier-Foster, J. M., Astbury, C., Ylstra, B., Meijers-Heijboer, H., Posthuma, D., Menten, B., Mortier, G., Scherer, S. W., Eichler, E. E., Girirajan, S., Katsanis, N., Groffen, A. J. & Sistermans, E. A., 7 Feb 2013, In: American journal of human genetics. 92, 2, p. 210-220 11 p.
Research output: Contribution to journal › Article* › Academic › peer-review
All publications

Sander Groffen

Specialization

Focus of research

delta-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

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