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

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

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

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

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

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

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

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.

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

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

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