Research output per year
Research output per year
Personal profile
Specialisation
Erik Sistermans is a Clinical Laboratory Geneticist, with both a national (VKGL) and a European (EBMG) registration. He is professor of Human Genetics and head of the Department of Human Genetics of AmsterdamUMC.
Research interests
Erik Sistermans is professor at the dept. of Human Genetics, Amsterdam UMC. He is member of the research board of the Amsterdam Reproduction & Development research institute and of the national working group on neonatal screening (WONHS).
Research interests focus on the improvement of prenatal screening and diagnostics. Based on the results obtained with the Dutch TRIDENT studies (Trial by Dutch laboratories for Evaluation of Non-Invasive Prenatal Testing), we are investigating genetic factors involved in clinical problems that can occur during and after pregnancy, such as growth restriction, early fetal demise and preeclampsia. Another interest is widening the scope of NIPT, what is technologically feasible and how can this be implemented in a responsible way.
Areas of interest: Genome diagnostics, prenatal screening and diagnostics, bioinformatics.
Dr. Sistermans is board member of the Dutch non-invasive prenatal test (NIPT) Consortium and has been project leader of the TRIDENT studies. He is associate editor of Extracellular Vesicles and Circulating Nucleic Acids (EVCNA).
He (co-)published over 150 international articles (H-index 53).
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
External positions
Lid Werkgroep Onderzoek Neonatale Hielprikscreening (WONHS)
17 Jan 2024 → …
Associate Editor Extracellular Vesicles and Circulating Nucleic Acids, Extracellular Vesicles and Circulating Nucleic Acids (EVCNA.com)
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Collaborations and top research areas from the last five years
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Research output
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Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study
Faas, B. H. W., Meuleman, T., Astuti, G., Reuss, A., Stol, K., Sistermans, E. A., Linthorst, J., van Leeuwen, E., Rahamat-Langendoen, J. & Wilmink, F. A., 1 Apr 2025, In: Ultrasound in Obstetrics and Gynecology. 65, 4, p. 470-477 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Downloads (Pure) -
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Jensen, M., Smolen, C., Tyryshkina, A., Pizzo, L., Sun, J., Noss, S., Banerjee, D., Oetjens, M., Shimelis, H., Taylor, C. M., Pounraja, V. K., Song, H., Rohan, L., Huber, E., el Khattabi, L., van de Laar, I., Tadros, R., Bezzina, C. R., van Slegtenhorst, M. & Kammeraad, J. & 52 others, , 11 Dec 2025, In: Cell. 188, 25, p. 7065-7082.e17Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review
Fabella, T. D., den Hoed, J., Henneman, L., Rodenburg, W., Ket, J. C. F., Schouten, J. & Sistermans, E. A., 1 Dec 2025, In: International journal of neonatal screening. 11, 4, 104.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Noninvasive Prenatal Testing: Mosaic Ratio Score as a Predictor for Confined Placental Mosaicism
Linthorst, J. & Sistermans, E. A., 1 Oct 2025, In: Clinical chemistry. 71, 10, p. 1011-1013 3 p.Research output: Contribution to journal › Editorial › Academic › peer-review
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Performance of non-invasive prenatal testing in vanishing-twin and multiple pregnancies: results of TRIDENT-2 study
van Eekhout, J. C. A., Bax, C. J., Schuurman, L. V. P., Becking, E. C., van der Ven, A. J. E. M., van Opstal, D., Boon, E. M. J., Macville, M. V. E., Bekker, M. N., Galjaard, R. J. H. & The Dutch NIPT Consortium, Dec 2025, In: Ultrasound in Obstetrics and Gynecology. 66, 6, p. 738-746 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Downloads (Pure)
Prizes
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Parel project ZonMw
Henneman, L. (Recipient), Sistermans, E. (Recipient), Bax, C. (Recipient), Pieters, M. (Recipient), Bekker, M. (Recipient), Macville, M. (Recipient), van der Ven, J. (Recipient) & Galjaard, R.-J. (Recipient), 26 Jan 2023
Prize › Societal