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Suzanne Frints, Ph.D.

Prof.Dr.

20102019

Research output per year

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Research Output

  • 15 Article
  • 1 Chapter
  • 1 Comment/Letter to the editor

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 journalArticleAcademicpeer-review

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 journalComment/Letter to the editorAcademicpeer-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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-review

Open Access

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

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., de Geus, C. M. & 10 others, Frints, S. G. M., Vanhoutte, E. K., van Dooren, M. F., van den Boogaard, M-J. H., Scheffer, H., Nelen, M., Kremer, H., Hoefsloot, L., Schraders, M. & Yntema, H. G., Feb 2017, In : European Journal of Human Genetics. 25, 3, p. 308-314 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access