Merel Klaassens

Research output

Research output per year 2010 2010 2012 2015 2018 2019 2020 2022 2022

• 7 Article
• 1 Comment/Letter to the editor

Research output per year

Research output per year

Search results

• 2010

  Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

  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., Mar 2010, In: British Journal of Dermatology. 162, 3, p. 690-694

  Research output: Contribution to journal › Article › Academic › peer-review
• 2012

  Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

  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., Aug 2012, In: Clinical Genetics. 82, 2, p. 121-130

  Research output: Contribution to journal › Article › Academic › peer-review
• 2015

  Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

  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., May 2015, In: European Journal of Human Genetics. 23, 5, p. 610-615

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

  Open Access
• 2018

  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

  Open Access
• 2019

  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

  Open Access
• 2020

  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
• 2022

  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

  Open Access

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• 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