Prof Dr Suzanne Frints, Ph.D. (S. G. M.)
Extended profile is only available in Dutch.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., ... Kalscheuer, V. M. (2019). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry, 24(11), 1748-1768. https://doi.org/10.1038/s41380-018-0065-x
More information about this publication
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., ... Kalscheuer, V. M. (2019). Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation, 40(12), 2270-2285. https://doi.org/10.1002/humu.23841
More information about this publication
Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A.-K., Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., ... Kalscheuer, V. M. (2016). X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry, 21(1), 133-148. https://doi.org/10.1038/mp.2014.193
More information about this publication
de Jong, A., Dondorp, W. J., de Die-Smulders, C. E. M., Frints, S. G. M., & de Wert, G. M. W. R. (2010). Non-invasive prenatal testing: ethical issues explored. European Journal of Human Genetics, 18(3), 272-277. https://doi.org/10.1038/ejhg.2009.203
More information about this publication
Mercy, E., de Die-Smulders, C. E. M., Coumans, A. B. C., Smits, L. J. M., de Wert, G. M. W. R., Frints, S. G. M., & Veltman, J. A. (2015). Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes. Public Health Genomics, 18(5), 260-271. https://doi.org/10.1159/000435780
More information about this publication
Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., Bakker, J. A., Stegmann, A. P. A., Vos, Y. J., & Frints, S. G. M. (2013). Adducted thumbs: A clinical clue to genetic diagnosis. European Journal of Medical Genetics, 56(3), 153-158. https://doi.org/10.1016/j.ejmg.2012.11.004
More information about this publication
Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Krapels, P. C., de Die-Smulders, C. E. M., van Lint, F. H. M., Willekes, C., Weber, J. W., Gavilanes, A. W. D., Macville, M. V. E., Stegmann, A. P. A., Engelen, J. J. M., Bakker, J., Vos, Y. J., & Frints, S. G. M. (2011). Congenital hydrocephalus in clinical practice: A genetic diagnostic approach. European Journal of Medical Genetics, 54(6), E542-E547. https://doi.org/10.1016/j.ejmg.2011.06.005
More information about this publication
Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-lsrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E.-J., van de Warrenburg, B. P., & Willemsen, M. A. (2019). De novo SPAST mutations may cause a complex SPG4 phenotype. Brain, 142(7), Article e31. https://doi.org/10.1093/brain/awz140
More information about this publication
Valente, F. M., Sparago, A., Freschi, A., Hill-Harfe, K., Maas, S. M., Frints, S. G. M., Alders, M., Pignata, L., Franzese, M., Angelini, C., Carli, D., Mussa, A., Gazzin, A., Gabbarini, F., Acurzio, B., Ferrero, G. B., Bliek, J., Williams, C. A., Riccio, A., & Cerrato, F. (2019). Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. Genetics in Medicine, 21(8), 1808-1820. https://doi.org/10.1038/s41436-018-0416-7
More information about this publication
Perdu, B., de Freitas, F., Frints, S. G. M., Schouten, M., Schrander-Stumpel, C., Barbosa, M., Pinto-Basto, J., Reis-Lima, M., de Vernejoul, M.-C., Becker, K., Freckmann, M.-L., Keymolen, K., Haan, E., Savarirayan, R., Koenig, R., Zabel, B., Vanhoenacker, F. M., & Van Hul, W. (2010). Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect. Journal of Bone and Mineral Research, 25(1), 82-90. https://doi.org/10.1359/jbmr.090707
More information about this publication
NWO VENI GRANT
Prof Dr Suzanne Frints, Ph.D. (S. G. M.)
Associate Professor
Assessor - Coach - Tutor in various Faculty of Health, Medicine and Life Sciences courses; mainly Physician-Clinical Investigator Bachelor & Master, Medicine and Biomedical Sciences.
Department of Clinical Genetics, azM, MUMC+