M. Klaassens

Janssen, E. J. M., Burgers, M., Kerkhof, G. F., Klaassens, M., Sinnema, M., & Geelen, J. M. (2024). Het Prader-Willi-syndroom: Het belang van vroege herkenning. Nederlands Tijdschrift voor Geneeskunde, 168. https://www.ntvg.nl/artikelen/het-prader-willi-syndroom#

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. (2022). Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon. American Journal of Medical Genetics Part A, 188(3), 1000-1004. https://doi.org/10.1002/ajmg.a.62600

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. (2022). A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome). British Journal of Dermatology, 186(2), 215-226. https://doi.org/10.1111/bjd.20700

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., ... Shinawi, M. (2020). Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. Journal of Medical Genetics, 57(10), 717-724. https://doi.org/10.1136/jmedgenet-2019-106470

Schott, D. A., Stumpel, C. T. R. M., & Klaassens, M. (2019). Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment. American Journal of Medical Genetics Part A, 179(2), 219-223. https://doi.org/10.1002/ajmg.a.60696

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., ... Wilkie, A. O. M. (2018). De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics, 102(6), 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014

Klaassens, M., Morrogh, D., Rosser, E. M., Jaffer, F., Vreeburg, M., Bok, L. A., Segboer, T., van Belzen, M., Quinlivan, R. M., Kumar, A., Hurst, J. A., & Scott, R. H. (2015). Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. European Journal of Human Genetics, 23(5), 610-615. https://doi.org/10.1038/ejhg.2014.162

Klaassens, M., Reinstein, E., Hilhorst-Hofstee, Y., Schrander, J. J. P., Malfait, F., Staal, H., ten Have, L. C., Blaauw, J., Roggeveen, H. C. J., Krakow, D., De Paepe, A., van Steensel, M. A. M., Pals, G., Graham, J. M. . J., & Schrander-Stumpel, C. T. R. M. (2012). Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood. Clinical Genetics, 82(2), 121-130. https://doi.org/10.1111/j.1399-0004.2011.01758.x

Klaassens, M., Blom, E. W., Schrander, J. J. P., Ris-Stalpers, C., Kruseman, A. C. N., van Steensel, M. A. M., & Schrander-Stumpel, C. T. R. M. (2010). Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. British Journal of Dermatology, 162(3), 690-694. https://doi.org/10.1111/j.1365-2133.2009.09543.x