Merel Klaassens

A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)

Verkouteren, B. J. A., Cosgun, B., Reinders, M. G. H. C., Kessler, P. A. W. K., Vermeulen, R. J., Klaassens, M., Lambrechts, S., van Rheenen, J. R., van Geel, M., Vreeburg, M. & Mosterd, K., Feb 2022, In: British Journal of Dermatology. 186, 2, p. 215-226 12 p.

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

Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

Aukema, S. M., de Geus, C. M., Robben, S. G. F., van Kaam, K. J. A. F., Staal, H. M., Witlox, A. M., de la Haye, N. A. J., Klaassens, M., Coumans, A., Stegmann, A. P. A., Paley, D. & Stumpel, C. T. R. M., Mar 2022, In: American Journal of Medical Genetics Part A. 188, 3, p. 1000-1004 5 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Granadillo, J. L., Stegmann, A. P. A., Guo, H., Xia, K., Angle, B., Bontempo, K., Ranells, J. D., Newkirk, P., Costin, C., Viront, J., Stumpel, C. T., Sinnema, M., Panis, B., Pfundt, R., Krapels, I. P. C., Klaassens, M., Nicolai, J., Li, J. L., Jiang, Y. W., Marco, E., & 15 othersCanton, A., Latronico, A. C., Montenegro, L., Leheup, B., Bonnet, C., Amudhavalli, S. M., Lawson, C. E., McWalter, K., Telegrafi, A., Pearson, R., Kvarnung, M., Wang, X., Bi, W. M., Rosenfeld, J. A. & Shinawi, M., 1 Oct 2020, In: Journal of Medical Genetics. 57, 10, p. 717-724 8 p.

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

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment

Schott, D. A., Stumpel, C. T. R. M. & Klaassens, M., Feb 2019, In: American Journal of Medical Genetics Part A. 179, 2, p. 219-223 5 p.

Research output: Contribution to journal › Article › Academic › peer-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., & 32 othersLudecke, 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 & Wilkie, A. O. M., 7 Jun 2018, In: American Journal of Human Genetics. 102, 6, p. 1195-1203 9 p.

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