1. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

   Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. M., Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. T., Thevenon, J., Faivre, L., Thomas, G. & Thauvin-Robinet, C., Jul-2019, In : European Journal of Human Genetics. 27, p. 853-854 2 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

2. Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia

   Lawerman, T. F., Brandsma, R., Maurits, N. M., Martinez-Manzanera, O., Verschuuren-Bemelmans, C. C., Lunsing, R. J., Brouwer, O. F., Kremer, H. P. H. & Sival, D. A., 17-Sep-2019, In : Developmental Medicine and Child Neurology. 8 p.

   Research output: Contribution to journal › Article › Academic › peer-review

3. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

   Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, M. A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., van der Walt, A., de Coo, I. F. M., McGowan, A., Lyons, G., Aarsen, R. F. K., Barca, P. D., van Beynu, I. M., van der Knoop, M. M., Jansen, J., Manshande, M., Lunsing, R. J., Nowak, S., den Uil, C. A., Zillikens, M. C., Visser, F. E., Vrijoeth, P., de Wit, M. C. Y., Wolf, N., Zandstra, A., Abegaonkar, G., Singh, Y., de Rijke, Y. B., Medici, M., Bertini, E. S., Depoorter, S., Lebl, J., Cappa, M., De Meirleir, L., Krude, H., Craiu, D., Zibordi, F., Petit, I. O., Polak, M., Chatterjee, K., Visser, T. J. & Visser, W. E., Sep-2019, In : Lancet Diabetes & Endocrinology. 7, 9, p. 695-706 12 p.

   Research output: Contribution to journal › Article › Academic › peer-review

4. Developmental movement patterns resemble movement disorder features in healthy babies and toddlers

   Kuiper, M. J., Brandsma, R., Lunsing, R. J., Eggink, H., Burger, H., Ter Horst, H. J., Bos, A. F. & Sival, D. A., Jun-2016, In : Movement Disorders. 31, p. S507-S507 1 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

5. The neurological phenotype of developmental motor patterns during early childhood

   Kuiper, M. J., Brandsma, R., Lunsing, R. J., Eggink, H., Ter Horst, H. J., Bos, A. F. & Sival, D. A., Jan-2019, In : Brain and Behavior. 9, 1, 8 p., e01153.

   Research output: Contribution to journal › Article › Academic › peer-review

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