Sandra Jansen

DRS.

20152019
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Research Output 2015 2019

  • 4 Article
  • 1 Meeting Abstract

Pulmonary Hypertension in a Nonreferral Setting in the Netherlands: Incidence and Patient Characteristics in the Optics Registry

Jansen, S., in 't Veld, A. E. H., Tolen, P. C. G., Jacobs, W., Grotjohan, H. P., Waskowsky, W., van der Maten, J., van der Weerdt, A., Hoekstra, R., Overbeek, M., Mollema, S., el Bouazzaoui, L. H. H., Vriend, J., Roorda, M., de Nooijer, R., van der Lee, I., Voogel, A. J., Peels, C., Aerts, J. G., Van de Ven, M. & 3 othersDe Man, F., Noordegraaf, A. V. & Bogaard, H. J., 2019, In : American Journal of Respiratory and Critical Care Medicine. 199

Research output: Contribution to journalMeeting AbstractAcademic

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 othersMarcelis, C., McKenzie, F., Monin, M-L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., 2018, In : European Journal of Human Genetics. 26, 1, p. 54-63

Research output: Contribution to journalArticleAcademicpeer-review

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 othersHorn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 1 Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

Vulto-van Silfhout, A. T., Gilissen, C., Goeman, J. J., Jansen, S., van Amen-Hellebrekers, C. J. M., van Bon, B. W. M., Koolen, D. A., Sistermans, E. A., Brunner, H. G., de Brouwer, A. P. M. & de Vries, B. B. A., 1 May 2017, In : Human Mutation. 38, 5, p. 594-599 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation

Bouman, A., Weiss, M. M., Jansen, S., Hankel, M. A., Nieuwint, A. W. M., Adriaanse, B. M. E., van de Kamp, J. M. & Tan-Sindhunata, M. B., 2015, In : Clinical Dysmorphology. 24, 2, p. 68-74

Research output: Contribution to journalArticleAcademicpeer-review