Publications

Bierens, J., Severens-Rijvers, C., Hildebrand, S., van Zandvoort, M., Al-Nasiry, S., & Kapsokalyvas, D. (2025). Imaging and quantification of placental terminal villi microvasculature and nuclear characteristics in preeclampsia. European Journal of Obstetrics & Gynecology and Reproductive Biology, 308, 181-189. https://doi.org/10.1016/j.ejogrb.2025.03.015

Simons, R. B., Karkala, F., Kukk, M. M., Adams, H. H. H., Kayser, M., & Vidaki, A. (2025). Comparative performance evaluation of bisulfite- and enzyme-based DNA conversion methods. Clinical epigenetics, 17(1), Article 56. https://doi.org/10.1186/s13148-025-01855-7

Stroot, I. A. S., Bart, J., Hollema, H., Wagner, M. M., Yigit, R., van Doorn, H. C., de Hullu, J. A., Gaarenstroom, K. N., van Beurden, M., van Lonkhuijzen, L. R. C. W., Slangen, B. F. M., Zweemer, R. P., Gómez Garcia, E. B., Ausems, M. G. E. M., Komdeur, F. L., van Asperen, C. J., Adank, M. A., Wevers, M. R., Hooning, M. J., ... HEBON Investigators (2025). High-grade serous carcinoma occurring after risk-reducing salpingo-oophorectomy in BRCA1/2 germline pathogenic variant carriers. Journal of the National Cancer Institute, 117(4), 719-727. https://doi.org/10.1093/jnci/djae300

Coppens, S., Deconinck, N., Sullivan, P., Smolnikov, A., Clayton, J. S., Griffin, K. R., Jones, K. J., Vilain, C. N., Kadhim, H., Bryen, S. J., Faiz, F., Waddell, L. B., Evesson, F. J., Bakshi, M., Pinner, J. R., Charlton, A., Brammah, S., Graf, N. S., Krivanek, M., ... Titin Research Consortium (2025). Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum. Annals of Neurology, 97(4), 611-628. https://doi.org/10.1002/ana.27087

Vermeulen, I., Li, M., van Mourik, H., Yadati, T., Eijkel, G., Balluff, B., Godschalk, R., Temmerman, L., Biessen, E. A. L., Kulkarni, A., Theys, J., Houben, T., Cillero-Pastor, B., & Shiri-Sverdlov, R. (2025). Inhibition of intracellular versus extracellular cathepsin D differentially alters the liver lipidome of mice with metabolic dysfunction-associated steatohepatitis. FEBS Journal, 292(7), 1781-1797. https://doi.org/10.1111/febs.17358

Schueth, A. (2025). Opening up about cancer and mental health. Nature Reviews Urology, 22(4), 194-195. https://doi.org/10.1038/s41585-024-00975-8

Steyaert, W., Sagath, L., Demidov, G., Yépez, V. A., Esteve-Codina, A., Gagneur, J., Ellwanger, K., Derks, R., Weiss, M., den Ouden, A., van den Heuvel, S., Swinkels, H., Zomer, N., Steehouwer, M., O'Gorman, L., Astuti, G., Neveling, K., Schüle, R., Xu, J., ... Hoischen, A. (2025). Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing. Genome research, (4). Advance online publication. https://doi.org/10.1101/gr.279414.124

Michel, L. Y. M., Esfahani, H., De Mulder, D., Verdoy, R., Ambroise, J., Roelants, V., Bouchard, B., Fabian, N., Savary, J., Dewulf, J. P., Doumont, T., Bouzin, C., Haufroid, V., Luiken, J. J. F. P., Nabben, M., Singleton, M. L., Bertrand, L., Ruiz, M., Des Rosiers, C., & Balligand, J.-L. (2025). An NRF2/ß3-Adrenoreceptor Axis Drives a Sustained Antioxidant and Metabolic Rewiring Through the Pentose-Phosphate Pathway to Alleviate Cardiac Stress. Circulation. Advance online publication. https://doi.org/10.1161/CIRCULATIONAHA.124.067876

Zucchi, D., Marinello, D., Tani, C., Fulvio, G., Aguilera, S., Benachi, A., Biller, R., Blanco, I., Borgards, P., Boiteux, M.-C., Brandi, M. L., Costafreda, E., Fonseca, J. E., Fredi, M., Iotova, V., Louisse, S., Nalli, C., Onali, M., Power, B., ... Mosca, M. (2025). Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey. Orphanet Journal of Rare Diseases, 20(1), Article 112. https://doi.org/10.1186/s13023-024-03435-z

Correa-da-Silva, F., Berkhout, J. B., Schouten, P., Sinnema, M., Stumpel, C. T. R. M., Curfs, L. M. G., Höybye, C., Mahfouz, A., Meijer, O. C., Pereira, A. M., Fliers, E., Swaab, D. F., Kalsbeek, A., & Yi, C.-X. (2025). Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects. Journal of neuroendocrinology, Article 70015. Advance online publication. https://doi.org/10.1111/jne.70015

Yu, M., Goel, A., Tura, B., Whalley, C. M., Cheng, K. K., Zeegers, M. P., James, N. D., Dyrskjøt, L., Ward, D. G., Bryan, R. T., & Arnold, R. (2025). Towards Epigenetic-based Subtyping of Bladder Cancer: DNA Methylation Predicts Molecular Subtypes of Non-muscle-invasive Bladder Cancer. European Urology, 87(5), 579-581. Advance online publication. https://doi.org/10.1016/j.eururo.2025.02.011

Mestrum, S. G. C., Schoenmakers, T., Wang, S. J., de Wit, N. C. J., Boonen, B. T., van Hemert, W. L. W., Deneer, R., Hopman, A. H. N., Ramaekers, F. C. S., & Leers, M. P. G. (2025). Increased anti-apoptotic (Bcl-2+) and decreased proliferative (Ki-67+) cell fractions during the different maturation stages of bone marrow cell populations in MDS and AML: The potential diagnostic impact of the Bcl-2. Cytometry. Part B, Clinical cytometry, 108(2), 146-160. https://doi.org/10.1002/cyto.b.22231

van Gisbergen, M. W., Rossel, S. V. J., Theunissen, T. E. J., Janssen, R., Kaseke, T., van der Smagt, J. J., Steijlen, P. M., Vreeburg, M., Gostynski, A. H., & van Geel, M. (2025). Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants. British Journal of Dermatology, 192(3), 544-546. https://doi.org/10.1093/bjd/ljae419

Verdonschot, J. A. J., Paulussen, A. D. C., Lakdawala, N. K., de Die-Smulders, C. E. M., Ware, J. S., & Ingles, J. (2025). Reproductive options and genetic testing for patients with an inherited cardiac disease. Nature Reviews Cardiology, 22(3), 199-211. Article e000067. https://doi.org/10.1038/s41569-024-01073-3

Laurie, S., Steyaert, W., de Boer, E., Polavarapu, K., Schuermans, N., Sommer, A. K., Demidov, G., Ellwanger, K., Paramonov, I., Thomas, C., Aretz, S., Baets, J., Benetti, E., Bullich, G., Chinnery, P. F., Clayton-Smith, J., Cohen, E., Danis, D., de Sainte Agathe, J.-M., ... Hoischen, A. (2025). Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nature Medicine, 31(2), 478–489. https://doi.org/10.1038/s41591-024-03420-w

Liu, X., Fan, Q., Deng, M., Xu, Y., Guo, J., Cao, P., Zhou, C., & Xu, Y. (2025). GGN repeat length of the androgen receptor gene is associated with antral follicle count in Chinese women undergoing controlled ovarian stimulation. Nan Fang Yi Ke Da Xue Xue Bao / Journal of Southern Medical University, 45(2), 213-222. https://doi.org/10.12122/j.issn.1673-4254.2025.02.01

Stroeks, S. L. V. M., Henkens, M. T. H. M., Dominguez, F., Merlo, M., Hellebrekers, D. M. E. I., Gonzalez-Lopez, E., Dal Ferro, M., Ochoa, J. P., Venturelli, F., Claes, G. R. F., Venner, M. F. G. H. M., Krapels, I. P. C., Vanhoutte, E. K., van Paassen, P., van den Wijngaard, A., Sikking, M. A., van Leeuwen, R., Abdul Hamid, M., Li, X., ... Verdonschot, J. A. J. (2025). Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease. JACC: Heart Failure, 13(1), 133-145. https://doi.org/10.1016/j.jchf.2024.08.011

Cao, P., Acharya, G., Salumets, A., & Zamani Esteki, M. (2025). Large language models to facilitate pregnancy prediction after in vitro fertilization. Acta Obstetricia et Gynecologica Scandinavica, 104(1), 6-12. https://doi.org/10.1111/aogs.14989