Projects 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 Genome analysis laboratory of AmsterdamUMC, which involves the Genome Diagnostics laboratory, the NIPT screening laboratory and the Core Facility Genomics (CFG).
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.
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 project leader of the TRIDENT studies. He is board member of the VKGL (Vereniging Klinisch Genetische Laboratoriumdiagnostiek), chair of the advisory board of Genomic Quality Assessment (GenQA) and associate editor of Extracellular Vesicles and Circulating Nucleic Acids (EVCNA).
He (co-)published over 135 international articles (H-index 45).
External positions
Associate Editor Extracellular Vesicles and Circulating Nucleic Acids, Extracellular Vesicles and Circulating Nucleic Acids (EVCNA.com)
Chair of the GenQA advisory board, Genomic Quality Assessment (genqa.org)
Collaborations and top research areas from the last five years
Projects
- 2 Finished
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Undertake demand and affordability modelling to underpin the development of the Tasmanian Housing Strategy
Lok, C. C. (Principal investigator), Kroon, C. D. C. D. (CoPI), Piek, J. (CoPI), Horlings, H. (CoPI), Sistermans, E. (CoPI), Würdinger, T. (CoPI), Wessels, L. L. (CoPI) & Planning, S. E. A. (Staff)
01/01/2019 → 30/06/2022
Project: Research
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Vroegdetectie van hoofd-halskanker recidief door middel van ctDNA-analyse in plasma
Brakenhoff, R. H. (Principal investigator), Leemans, R. (CoPI), Sistermans, E. (CoPI) & Wiel, M. V. D. M. V. D. (CoPI)
01/01/2015 → 31/12/2016
Project: Research
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 Access1 Citation (Scopus) -
Protocol for high-precision CRISPR-Cas12a-based SNV detection on synthetic DNA, cell line cfDNA models, and liquid biopsies
Kohabir, K. A. V., Linthorst, J., Wolthuis, R. M. F. & Sistermans, E. A., 20 Jun 2025, In: STAR Protocols. 6, 2, 103696.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy
The Dutch NIPT Consortium, 1 Aug 2024, In: JCO oncology practice. 20, 8, p. 1027-1034 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus) -
Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21
Pandya, P., Levy, B. & Sistermans, E. A., 1 Apr 2024, In: Prenatal diagnosis. 44, 4, p. 381-388 8 p.Research output: Contribution to journal › Review article › Academic › peer-review
2 Citations (Scopus) -
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing
Faas, B. H. W., Astuti, G., Melchers, W. J. G., Reuss, A., Gilissen, C., Macville, M. V. E., Ghesquiere, S. A. I., Houben, L. M. H., Srebniak, M. I., Geeven, G., Rahamat-Langendoen, J. C., Sistermans, E. A. & Linthorst, J., Feb 2024, In: EBioMedicine. 100, p. 104983 104983.Research output: Contribution to journal › Article › Academic › peer-review
Open Access9 Citations (Scopus)
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