Prof Dr Suzanne Frints, Ph.D. (S. G. M.)
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Prof Dr Suzanne Frints, Ph.D. (S. G. M.)
UNIVERSITAIR HOOFDDOCENT
Beoordelaar - Planningsgroepslid - Coach - Tutor in diverse opleidingen binnen Faculty of Health, Medicine and Life Sciences; met name Arts-Klinisch Onderzoeker Bachelor & Master opleiding, Geneeskunde en Biomedische wetenschappen.
Afdeling Klinische Genetica, azM, MUMC+