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Suzanne Frints, Ph.D.

Prof.Dr.

 https://orcid.org/0000-0002-5027-8364
20102022

Research activity per year

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Dive into the research topics where Suzanne Frints is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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  • 16 Article
  • 1 Chapter
  • 1 Comment/Letter to the editor
  • 1 (Systematic) Review article

  • Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

    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. & Kaiser, F. J. & 17 others, Mau-Them, F. T., Scala, M., Striano, P., Frints, S. G. M., Argilli, E., Sherr, E. H., Elder, F., Buratti, J., Keren, B., Mignot, C., Heron, D., Mandel, J. L., Gecz, J., Kalscheuer, V. M., Horsthemke, B., Piton, A. & Depienne, C., 2 Nov 2022, In: Nature Communications. 13, 1, 17 p., 6570.

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

    Open Access

  • Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

    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. & Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 2019, In: Human Mutation. 40, 12, p. 2270-2285 16 p.

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

    Open Access

  • De novo SPAST mutations may cause a complex SPG4 phenotype

    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., Jul 2019, In: Brain. 142, 7, 5 p., e31.

    Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

    Open Access

  • Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

    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. & Koboldt, D. C. & 25 others, van Roozendaal, K. E. P., Hu, H., Haas, S. A., Ropers, H.-H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J.-P., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C. & Kalscheuer, V. M., Nov 2019, In: Molecular Psychiatry. 24, 11, p. 1748-1768 21 p.

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

  • Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

    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., Aug 2019, In: Genetics in Medicine. 21, 8, p. 1808-1820 13 p.

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

    Open Access
View all 19 research outputs