Publications

Grutters, L. A., Baardman, R., Bremer, J., Kramer, D., Vreeburg, M., Diercks, G. F. H., van den Akker, P. C., & Bolling, M. C. (2025). Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces. British Journal of Dermatology, 193(5), 1013-1015. Article ljaf296. https://doi.org/10.1093/bjd/ljaf296

Lu, F., Groven, R. V. M., Meesters, D. M., Bitorina, A., Poeze, M., Tang, S., van Griensven, M., Blokhuis, T. J., & Shiri-Sverdlov, R. (2025). Cathepsin D and G expression correlates with human fracture healing phases and specific neutrophil N1 and N2 phenotypes. Bone, 199, Article 117574. https://doi.org/10.1016/j.bone.2025.117574

Nie, X., Sun, Y., van Dijk, D. P. J., Deng, M., Brecheisen, R., Wang, Z., Xia, Q., Olde Damink, S. M. W., & Rensen, S. S. (2025). Loss of Skeletal Muscle Mass Is Associated With Reduced Cytotoxic T Cell Abundance and Poor Survival in Advanced Lung Cancer. Journal of cachexia, sarcopenia and muscle, 16(5), Article e70063. https://doi.org/10.1002/jcsm.70063

Stroeks, S. L. V. M., Merlo, M., Mora-Ayestaran, N., Jason, M., Tayal, U., Wang, P., Cannatà, A., Sikking, M. A., Dal Ferro, M., Peiro, B., Willemars, M., Hellebrekers, D. M. E. I., van Leeuwen, R. E. W., Setti, M., Gonzalez-Lopez, E., Krapels, I. P. C., Pio Loco Detto Gava, C., van den Wijngaard, A., Henkens, M. T. H. M., ... Verdonschot, J. A. J. (2025). Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy. Circulation-Heart Failure, Article 012592. Advance online publication. https://doi.org/10.1161/CIRCHEARTFAILURE.124.012592

Naghdi, M., Cao, P., Essers, R., Heijligers, M., Paulussen, A. D. C., van der Lugt, A., Ruiter, R. A. C., van Zelst-Stams, W. A. G., Salumets, A., & Zamani Esteki, M. (2025). Artificial intelligence-simplified information to advance reproductive genetic literacy and health equity. Human Reproduction, 40(9), 1681-1688. https://doi.org/10.1093/humrep/deaf135

Hildebrand, S., Franz, J., Sengupta, S., Schueth, A., Herrler, A., & Roebroeck, A. (2025). ht-MASH: a high-throughput, cost-effective, and robust protocol for microscopic 3D imaging of human angio- and cytoarchitecture in large human brain samples. Anatomical Science International, 100(4), 498-513. https://doi.org/10.1007/s12565-025-00859-w

Sohaili, A., Mogaka, F., Vanrompay, D., Omollo, V. O., Morre, S. A., & Thomas, P. P. M. (2025). A review of zoonotic chlamydiae species in Africa: assessing their burden and potential impact through One Health perspective. One Health Outlook, 7(1), Article 40. https://doi.org/10.1186/s42522-025-00165-5

Poggiali, B., Dupont, M. E., Kampmann, M.-L., Vidaki, A., Pereira, V., Børsting, C., Tfelt-Hansen, J., & Andersen, J. D. (2025). Evaluation of the HumanMethylationEPIC v2.0 Bead Chip Using Low Quality and Quantity DNA Samples. Biological Procedures Online, 27(1), Article 34. https://doi.org/10.1186/s12575-025-00292-3

Alexiou, Z. W., Hoenderboom, B. M., Hoebe, C. J. P. A., Scholte, I., Sheombarsing, R., Dukers-Muijrers, N. H. T. M., van Benthem, B. H. B., & Morré, S. A. (2025). Prevalence and risk factors for Chlamydia trachomatis seropositivity and seropersistence among women: A prospective cohort study. PLOS ONE, 20(8), Article e0328449. https://doi.org/10.1371/journal.pone.0328449

Pacot, L., Blok, M., Vidaud, D., Fertitta, L., Laurendeau, I., Coustier, A., Maillard, T., Barbance, C., Hadjadj, D., Ye, M., Lallemand, D., Ferkal, S., Funalot, B., Lunati-Rozie, A., Hebrard, B., Bhouri, R., Spruijt, L., Bessis, D., Geneviève, D., ... NF-France network (2025). Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants. Journal of Medical Genetics. Advance online publication. https://doi.org/10.1136/jmg-2025-110783

Solve RD DITF GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD-DITF-RND, SOLVE-RD Consortium, & Brunner, H. (2025). Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nature Medicine, 31(8), 2819–2820. https://doi.org/10.1038/s41591-025-03754-z

Fridman, H., Khazeeva, G., Levy-Lahad, E., Gilissen, C., & Brunner, H. G. (2025). Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants. Nature human behaviour, 9(8), 1726-1736. Article 241. https://doi.org/10.1038/s41562-025-02204-7

Ren, H., Qin, Q., Dong, Q., Ainiwaer, A., Yuan, H., Zhu, H., Cao, Z., Chen, Y., Wesselius, A., Zeegers, M. P., Prinzen, F. W., Chen, L., Yu, E. Y.-W., Luo, H., & TREND Cohort Study Investigators (2025). Smartphone-Measured Heart Sounds for Atrial Fibrillation Screening in Community Populations. Circulation, 152(4), 283-285. https://doi.org/10.1161/CIRCULATIONAHA.125.073828

Prop, J., De Vos van Steenwijk, P., Lardenoije, C. M. J. G., Cremers, N. A. J., Morre, S. A., & Mongula, J. (2025). Effect of medical-grade honey (L-Mesitran) for cervical intraepithelial neoplasia II: protocol for a multicentre cohort pilot study (HONEY FOR CIN II study). BMJ Open, 15(7), Article e104585. https://doi.org/10.1136/bmjopen-2025-104585

van Haren, A., Morre, S. A., Stolaki, M., de Jonge, J., Stevens Brentjens, L., & van Golde, R. (2025). ProVag: the effect of oral probiotics on the vaginal microbiota composition in women receiving medical assisted reproduction in a Dutch fertility clinic - protocol of a randomised, placebo-controlled, double-blind study. BMJ Open, 15(7), Article e096959. https://doi.org/10.1136/bmjopen-2024-096959

Wong, L. Y., Torfs, T., Vanherle, S. J. V., Janssen, J., Claes, G. R. F., Stroeks, S. L. V. M., Willemars, M. M. A., Schianchi, F., Kapsokalyvas, D., Weltjens, E., Swinnen, A., Strzelecka, A., Krapels, I. P. C., Heymans, S. R. B., Glatz, J., van den Wijngaard, A., Brunner, H. G., Broers, J., Luiken, J. F. P., ... Nabben, M. (2025). Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant. Scientific Reports, 15(1), Article 23842. https://doi.org/10.1038/s41598-025-08495-0

Askari, F., Dianati-Nasab, M., Mohammadi Dashtaki, N., Ghaem, H., & Fararouei, M. (2025). Demographic and Parental Family Determinants of Prostitution Among Iranian Female Sex Workers: A Case-Control Study. Journal of Health Sciences and Surveillance System, 13(3), 275-282. https://doi.org/10.30476/jhsss.2024.101253.1870

Dennis, K. M. J. H., Gopal, K., Montes Aparicio, C. N., Aaron Zhang, J., Castro-Guarda, M., Nicol, T., Devereux, R. M., Carter, R. D., Azizi, S. A., Lan, T., Purnama, U., Carr, C. A., Simsek, G., Gill, E. K., Swietach, P., Sorop, O., Heinonen, I. H. A., Schianchi, F., Luiken, J. J. F. P., ... Heather, L. C. (2025). FoxO1-zDHHC4-CD36 S-Acylation Axis Drives Metabolic Dysfunction in Diabetes. Circulation Research, 136(12), 1545-1560. https://doi.org/10.1161/CIRCRESAHA.124.325918

Beekman, M. J., Terra, L., Roeters van Lennep, J. E., Heemskerk-Gerritsen, B. A. M., van Beurden, M., van Doorn, H. C., de Hullu, J. A., van Dorst, E. B. L., Mom, C. H., Slangen, B. F. M., Mourits, M. J. E., Gaarenstroom, K. N., van Engelen, K., van der Kolk, L. E., Collée, J. M., Wevers, M. R., Ausems, M. G. E. M., Berger, L. P. V., Gomez Garcia, E. B., ... Maas, A. H. E. M. (2025). No increased arterial stiffness after premenopausal risk-reducing salpingo-oophorectomy (RRSO). Maturitas, 197, Article 108265. https://doi.org/10.1016/j.maturitas.2025.108265