Publications

Lam, A.-S. V. D. W. ., Dowty, J. G., Italia, M., Bakker, A. C., Koops, F., Bleeker, F., Gomez-Garcia, E., van Hest, L. P., Gille, H. J. P., Cornips, C. C., de Jong, M. M., Letteboer, T. G. W., Duijkers, F. A. M., Wagner, A., Eikenboom, E. L., van Asperen, C. J., Broeke, S. W. B., Win, A. K., Jenkins, M. A., & Nielsen, M. (2025). Cancer risks for MSH6 pathogenic variant carriers. European Journal of Cancer, 231, Article 116098. https://doi.org/10.1016/j.ejca.2025.116098

Sohaili, A., Alexiou, Z., Mogaka, F., Omollo, V. O., Morré, S. A., & Thomas, P. P. M. (2025). Prevalence of genital and anorectal chlamydia trachomatis in Kenya by risk groups: a systematic review and meta-analysis. BMC Infectious Diseases, 25(1), Article 1622. https://doi.org/10.1186/s12879-025-11813-6

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, 62(12), 783-793. https://doi.org/10.1136/jmg-2025-110783

Dashtaki, N. M., Fararouei, M., Askari, F., & Dianati-Nasab, M. (2025). Drug use and its related factors among Iranian female sex workers: a cross-sectional study. Journal of Substance Use, 30(6), 992-996. https://doi.org/10.1080/14659891.2024.2446925

Hoes, M. F., Wang, S., & Luiken, J. J. F. P. (2025). Endosomal Mechanisms in Heart Failure Pathophysiology. Current Heart Failure Reports, 22(1), Article 38. https://doi.org/10.1007/s11897-025-00728-7

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

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, 18(11), e012592. Article 012592. https://doi.org/10.1161/CIRCHEARTFAILURE.124.012592

Beekman, M. J., Terra, L., Stuursma, A., Heemskerk-Gerritsen, B. A. M., van Lennep, J. E. R., van Beurden, M., van Doorn, L. C., de Hullu, J. A., van Dorst, E. B. L., Mom, C. H., Slangen, B. F. M., Mitea, C., Slart, R. H. J. A., Snoeren, M. M., Stokkel, M. P., Verberne, H. J., de Keizer, B., Korse, C. M., Gaarenstroom, K. N., ... Zillikens, M. C. (2025). Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on bone mineral density. Osteoporosis International, 36(11), 2307-2317. https://doi.org/10.1007/s00198-025-07679-8

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

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

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