• P. Debyelaan 25

    6229 HX Maastricht

    Netherlands

Profiles

No photo of Suzanne Frints

Suzanne Frints, Ph.D.

Person: Paid Staff - azM-employee, Unpaid Staff - Academic Staff AZM

20102019

Research Output

  • 4 Article
  • 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