Kees van Roozendaal

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

Koster, R., Brandao, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Oberstein, S. A. J. L., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., & 5 othersDerks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M. & Blok, M. J., 15 Nov 2021, In: npj Genomic Medicine. 6, 1, 10 p., 95.

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

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 othersKoudijs, 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 journal › Article › Academic › peer-review

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Frints, S. G. M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., Hickey, S. E., Kammoun, M., Gripp, K. W., Bauer, C., Schroeder, C., Toutain, A., Mosher, T. M., Kelly, B. J., White, P., Dufke, A., Rentmeester, E., Moon, S., Koboldt, D. C., & 25 othersvan Roozendaal, K. E. P., Hu, H., Haas, S. A., Ropers, H-H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J-P., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C. & Kalscheuer, V. M., Nov 2019, In: Molecular Psychiatry. 24, 11, p. 1748-1768 21 p.

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

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

Teixeira, N., van der Hout, A., Oosterwijk, J. C., Vos, J. R., Devilee, P., van Engelen, K., Meijers-Heijboer, H., van der Luijt, R. B., Kriege, M., Mensenkamp, A. R., Rookus, M. A., van Roozendaal, K. E., Mourits, M. J. E., de Bock, G. H. & HEBON, 1 Jun 2018, In: European Journal of Human Genetics. 26, 6, p. 848-857 10 p.

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

Neurophysiology Versus Clinical Genetics in Rett Syndrome: A Multicenter Study

Halbach, N., Smeets, E. E., Julu, P., Om, I. W-E., Pini, G., Bigoni, S., Hansen, S., Apartopoulos, F., Delamont, R., van Roozendaal, K., Scusa, M. F., Borelli, P., Candel, M. & Curfs, L., Sept 2016, In: American Journal of Medical Genetics Part A. 170, 9, p. 2301-2309

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