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Prof Dr Suzanne Frints, Ph.D. (S. G. M.)

Research profile

See: https://nl.linkedin.com/in/suzanna-g-m-frints-5b98898b

Research projects

See: https://nl.linkedin.com/in/suzanna-g-m-frints-5b98898b

Key publications
  • 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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Recent publications
  • Leitao, E., Schroder, C., Parenti, I., Dalle, C., Rastetter, A., Kuhnel, T., Kuechler, A., Kaya, S., Gerard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu, B., Villard, L., Stegmann, A. P. A., Vanhoutte, E. K., Verdonschot, J. A. J., ... Depienne, C. (2022). Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications, 13(1), Article 6570. https://doi.org/10.1038/s41467-022-34264-y
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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
    More information about this publication
  • 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
  • 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
  • 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
  • Seco, C. Z., Wesdorp, M., Feenstra, I., Pfundt, R., Hehir-Kwa, J. Y., Lelieveld, S. H., Castelein, S., Gilissen, C., de Wijs, I. J., Admiraal, R. J. C., Pennings, R. J. E., Kunst, H. P. M., van de Kamp, J. M., Tamminga, S., Houweling, A. C., Plomp, A. S., Maas, S. M., Gans, P. A. M. D. K., Kant, S. G., ... Yntema, H. G. (2017). The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. European Journal of Human Genetics, 25(3), 308-314. https://doi.org/10.1038/ejhg.2016.182
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  • Van Der Smagt, J. J., Govaerts, L. C., & Frints, S. G. M. (2017). Wat als de zaaddonor een erfelijke ziekte heeft? Informed consent nodig voor uitwisse ling medische informatie. Nederlands Tijdschrift voor Geneeskunde, 161(32), Article D1445.
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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
    More information about this publication
  • Ito, H., Shiwaku, H., Yoshida, C., Homma, H., Luo, H., Chen, X., Fujita, K., Musante, L., Fischer, U., Frints, S. G. M., Romano, C., Ikeuchi, Y., Shimamura, T., Imoto, S., Miyano, S., Muramatsu, S., Kawauchi, T., Hoshino, M., Sudol, M., ... Okazawa, H. (2015). In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Molecular Psychiatry, 20(4), 459-471. https://doi.org/10.1038/mp.2014.69
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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
    More information about this publication
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Other publications

https://www.ncbi.nlm.nih.gov/pubmed/?term=frints+s

Notes

NWO VENI GRANT

https://www.researchgate.net/profile/Suzanna_Frints /SuzannaGMFrints