20102019

Research output per year

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Research Output

  • 15 Article
  • 1 Erratum / corrigendum
  • 1 Comment/Letter to the editor
  • 1 Doctoral Thesis

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 2019, In : Human Mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Kim, J-H., Park, E. Y., Chitayat, D., Stachura, D. L., Schaper, J., Lindstrom, K., Jewett, T., Wieczorek, D., Draaisma, J. M., Sinnema, M., Hoeberigs, C., Hempel, M., Bachman, K. K., Seeley, A. H., Stone, J. K., Kong, H. K., Vukadin, L., Richard, A., Shinde, D. N., McWalter, K. & 6 others, Si, Y. C., Douglas, G., Lim, S-T., Vissers, L. E. L. M., Lemaire, M. & Ahn, E-Y. E., Jun 2019, In : Kidney International. 95, 6, p. 1494-1504 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson, H. E., Jean-Marcais, N., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E-J., Sinnema, M., Reijnders, M. R. F., Bearden, D., Begtrup, A., Telegrafi, A., Lunsing, R. J., Burglen, L., Lesca, G., Cho, M. T., Smith, L. A. & 31 others, Sheidley, B. R., El Achkar, C. M., Pearl, P. L., Poduri, A., Skraban, C. M., Tarpinian, J., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Chatron, N., Sabatier, I., De Bellescize, J., Guibaud, L., Sweetser, D. A., Waxler, J. L., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Riviere, J-B., Vitobello, A., Mau-Them, F. T., Philippe, C., Bruel, A-L., Duffourd, Y., Thomas, L., Lelieveld, S. H., Brunner, H. G. & DDD Study; C4RCD Res Grp, 3 May 2018, In : American Journal of Human Genetics. 102, 5, p. 995-1007 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Reijnders, M. R. F., Miller, K. A., Alvi, M., Goos, J. A. C., Lees, M. M., de Burca, A., Henderson, A., Kraus, A., Mikat, B., de Vries, B. B. A., Isidor, B., Kerr, B., Marcelis, C., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C. A. L., Wieczorek, D., Baralle, D., Blair, E. M., Engels, H. & 31 others, Ludecke, H-J., Eason, J., Santen, G. W. E., Clayton-Smith, J., Chandler, K., Tatton-Brown, K., Payne, K., Helbig, K., Radtke, K., Nugent, K. M., Cremer, K., Strom, T. M., Bird, L. M., Sinnema, M., Bitner-Glindzicz, M., van Dooren, M. F., Alders, M., Koopmans, M., Brick, L., Kozenko, M., Harline, M. L., Klaassens, M., Steinraths, M., Cooper, N. S., Edery, P., Yap, P., Terhal, P. A., van der Spek, P. J., Stegmann, A. P. A., Brunner, H. G. & Deciphering Dev Disorders Study, 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1195-1203 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access