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Erik Sistermans

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Erik Sistermans

PROF.DR., Principal Investigator

 https://orcid.org/0000-0001-7187-4563
  • 5184
    Citations
1995 …2026

Research activity 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).

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)

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):

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • Toward point-of-care and amplification-free detection of human cytomegalovirus using CRISPR-Cas12a

    Kohabir, K. A. V., Rietveld, A. W. J., Nooi, L. O., Beijer, R. E., van Dongen, J. E., Linthorst, J., Wolthuis, R. M. F., Jonges, M., Welkers, M. R. A., Segerink, L. I. & Sistermans, E. A., 17 Jul 2026, In: iScience. 29, 7, 116494.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • 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 Access
    File
    62 Downloads (Pure)

  • Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease

    Andersen, O. M., de Waal, M. W. J., Monti, G., Tesi, N., Jensen, A. M. G., de Geus, C., van Spaendonk, R., Vogel, M., Ahmad, S., Amin, N., Amouyel, P., Beecham, G. W., Bellenguez, C., Berr, C., Bis, J. C., Boland, A., Bossù, P., Bouwman, F., Bras, J. & Charbonnier, C. & 86 others, Clarimon, J., Cruchaga, C., Daniele, A., Dartigues, J. F., Debette, S., Deleuze, J. F., Denning, N., DeStefano, A. L., Dols-Icardo, O., van Duijn, C. M., Farrer, L. A., Fernández, M. V., van der Flier, W. M., Fox, N. C., Galimberti, D., Genin, E., Gille, J. J. P., Grenier-Boley, B., Grozeva, D., Guen, Y. L., Guerreiro, R., Haines, J. L., Holmes, C., Hummerich, H., Arfan Ikram, M., Kamran Ikram, M., Kawalia, A., Kraaij, R., Lambert, J. C., Lathrop, M., Lemstra, A. W., Lleó, A., Myers, R. M., Mannens, M. M. A. M., Marshall, R., Martin, E. R., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Meggy, A., Mol, M. O., Nacmias, B., Naj, A. C., Napolioni, V., Nicholas Cochran, J., Nicolas, G., Pasquier, F., Pastor, P., Pericak-Vance, M. A., Pijnenburg, Y. A. L., Piras, F., Quenez, O., Ramirez, A., Raybould, R., Redon, R., Reinders, M. J. T., Richard, A. C., Riedel-Heller, S. G., Rivadeneira, F., van Rooij, J. G. J., Rousseau, S., Ryan, N. S., Sanchez-Juan, P., Schellenberg, G. D., Scheltens, P., Schott, J. M., Seshadri, S., Sie, D., Sims, R., Sistermans, E. A., Sorbi, S., van Swieten, J. C., Tijms, B., Uitterlinden, A. G., Visser, P. J., Wagner, M., Wallon, D., Wang, L. S., Williams, J., Yokoyama, J. S., Zarea, A., van der Lee, S. J., Olsen, J. G., Hulsman, M. & Holstege, H., Dec 2025, In: MOLECULAR NEURODEGENERATION. 20, 1, 122.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    4 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, Prontera, P., Caberg, J.-H., Fraser, H., Banka, S., van Dijck, A., Schwartz, C., Voorhoeve, E., Callier, P., Mosca-Boidron, A.-L., Marle, N., Lefebvre, M., Pope, K., Snell, P., Boys, A., Lockhart, P. J., Ashfaq, M., McCready, E., Nowacyzk, M., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Bruccheri, M. G., Mandarà, G. M. L., Mari, F., Privitera, F., Longo, I., Curró, A., Renieri, A., Keren, B., Charles, P., Cuinat, S., Nizon, M., Pichon, O., Bénéteau, C., Stoeva, R., Martin-Coignard, D., Blesson, S., le Caignec, C., Mercier, S., Vincent, M., Martin, C. L., Mannik, K., Reymond, A., Faivre, L., Sistermans, E., Kooy, R. F., Amor, D. J., Romano, C., Andrieux, J. & Girirajan, S., 11 Dec 2025, In: Cell. 188, 25, p. 7065-7082.e17

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    48 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 Access
    File
    3178 Downloads (Pure)
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