Prof Dr H.J.M. Smeets

Guan, Z., Lindsey, P., Kamps, R., & Smeets, H. J. M. (2025). A bioinformatics pipeline for identifying homoplasmic and heteroplasmic mitochondrial DNA SNVs in single-cell RNA-Seq datasets. Genomics, 117(6), Article 111122. https://doi.org/10.1016/j.ygeno.2025.111122

van Tienen, F. H. J., Hoeijmakers, J. G. J., van der Leij, C., Timmer, E., Wanders, N., Lindsey, P. J., Yi, F., Lin, F., Kortekaas, S. P. M., Roelofs, H., Westra, I. M., Meij, P., Wijnen, L. A. C. M., de Coo, I. F. M., & Smeets, H. J. M. (2025). Intra-arterial transplantation of autologous mesoangioblasts in m.3243A>G mutation carriers is safe: First phase 1/2 human clinical study. Molecular Therapy, 33(10), 5061-5072. https://doi.org/10.1016/j.ymthe.2025.07.005

Kamps, R., Martens, H., de Koning, B., Smeets, B., & van Geel, M. (2025). Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. Molecular genetics & genomic medicine, 13(6), Article e70108. https://doi.org/10.1002/mgg3.70108

Mertens, J., Belva, F., van Montfoort, A. P. A., Regin, M., Zambelli, F., Seneca, S., de Deckersberg, E. C., Bonduelle, M., Tournaye, H., Stouffs, K., Barbe, K., Smeets, H. J. M., van de Velde, H., Sermon, K., Blockeel, C., & Spits, C. (2025). Children Born After Assisted Reproduction More Commonly Carry a Mitochondrial Genotype Associating With Low Birthweight. Obstetrical & Gynecological Survey, 80(1), 32-33. https://doi.org/10.1097/OGX.0000000000001365

de Laat, E. C. M., Houwen-van Opstal, S. L. S., Bouman, K., van Doorn, J. L. M., Cameron, D., van Alfen, N., Dittrich, A. T. M., Kamsteeg, E. J., Smeets, H. J. M., Groothuis, J. T., Erasmus, C. E., & Voermans, N. C. (2024). Correction: A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study (BMC neurology (2024) 24 1 DOI: 10.1186/s12883-024-03852-4). BMC Neurology, 24(1), Article 477. https://doi.org/10.1186/s12883-024-03994-5

de Laat, E. C. M., Houwen-van Opstal, S. L. S., Bouman, K., van Doorn, J. L. M., Cameron, D., van Alfen, N., Dittrich, A. T. M., Kamsteeg, E. J., Smeets, H. J. M., Groothuis, J. T., Erasmus, C. E., Voermans, N. C., & Voermans, N. C. (2024). A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study. BMC Neurology, 24(1), Article 409. https://doi.org/10.1186/s12883-024-03852-4

Misra, K., Sleczkowska, M., Santoro, S., Gerrits, M. M., Mascia, E., Marchi, M., Salvi, E., Smeets, H. J. M., Hoeijmakers, J. G. J., Boneschi, F. G. M., Filippi, M., Pinter, G. L., Faber, C. G., & Esposito, F. (2024). Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases. International Journal of Molecular Sciences, 25(13), Article 7248. https://doi.org/10.3390/ijms25137248

Manukjan, N., Chau, S., Caiment, F., van Herwijnen, M., Smeets, H. J., Fulton, D., Ahmed, Z., Blankesteijn, W. M., & Foulquier, S. (2024). Wnt7a Decreases Brain Endothelial Barrier Function Via β-Catenin Activation. Molecular Neurobiology, 61(7), 4854-4867. https://doi.org/10.1007/s12035-023-03872-0

Ahmadian, S., Lindsey, P. J., Smeets, H. J. M., van Tienen, F. H. J., & van Zandvoort, M. A. M. J. (2024). Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network. International Journal of Molecular Sciences, 25(9), Article 4819. https://doi.org/10.3390/ijms25094819

Smeets, H., Verbrugge, B., Bulbena, X., Hristova, L., Vogt, J., van Beckhoven, I., Allamand, V., Almekinders, J., Barquinero, J., Berreur, S., Bönnemann, C., Bouman, K., de Bruin, L., Caron, L., Damon, C., Durbeej, M., Feijen, D., Foley, R., Goncalves, A. R., ... all participants (2024). European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy. Neuromuscular Disorders, 36, 16-22. https://doi.org/10.1016/j.nmd.2024.01.001