Erik Sistermans

DR., (Principal Investigator)

20042019

Research output per year

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Research Output

Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., van Dijk, A. T. H., van Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., van Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., de Jongh, R. T., van de Kamp, J. M., van Maarle, M. C., Marcelis, C. L. M., Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E. & 6 others, Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G. & Micha, D., Oct 2019, In : European Journal of Human Genetics. 27, p. 1293-1293

Research output: Contribution to journalMeeting AbstractAcademic

External assessment of the quality of cell free fetal DNA non-invasive prenatal testing for aneuploidies

Deans, Z. C., Khawaja, F., Hastings, R., Rack, K., Patton, S., Gutowska-Ding, W., Jenkins, L., Allen, S., Chitty, L. S. & Sistermans, E., Jul 2019, In : European Journal of Human Genetics. 27, p. 21-22

Research output: Contribution to journalMeeting AbstractAcademic

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

Hestand, M. S., Bessem, M., van Rijn, P., de Menezes, R. X., Sie, D., Bakker, I., Boon, E. M. J., Sistermans, E. A. & Weiss, M. M., 1 Feb 2019, In : European Journal of Human Genetics. 27, 2, p. 198-202 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies

Weiss, M. M., Galjaard, R. H., Sistermans, E. A., Bax, C. J., Bekker, M. N., de Die-Smulders, C. E. M., Feenstra, I., Hoffer, M. J. V., den Hollander, N. S., Knapen, M. F. C. M., van Langen, I. M., Lichtenbelt, K. D., Lombardi, P. M., van Maarle, M. C., van der Meij, K. R. M., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Stevens, S. J., Suijkerbuijk, R. F. & 4 others, van der Ven, A. J. E. M., Van Opstal, D., Henneman, L. & Macville, M. V., Jul 2019, In : European Journal of Human Genetics. 27, p. 823-824

Research output: Contribution to journalMeeting AbstractAcademic