I.F.M. de Coo

Groeneweg, S., van Geest, F. S., van der Most, F., Abela, L., Alfieri, P., Bauer, A. J., Bertini, E., Cappa, M., Çelik, N., de Coo, I. F. M., Dolcetta-Capuzzo, A., Dubinski, I., Granadillo, J. L., Hoefsloot, L. H., Kalscheuer, V. M., van der Knoop, M. M., Krude, H., McNerney, K. P., Paone, L., ... Visser, W. E. (2026). MCT8 deficiency in females. Journal of Clinical Endocrinology & Metabolism, 111(1), e175-e184. Article dgaf311. https://doi.org/10.1210/clinem/dgaf311

Kristensen, E., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Brodtkorb, E., Ostergaard, E., de Coo, I., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Majamaa, K., Karppa, M., Martikainen, M. H., Ortigoza-Escobar, J. D., Tangeraas, T., Berland, S., Sue, C. M., Walker, J. S., ... Hikmat, O. (2025). Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients. Journal of Inherited Metabolic Disease, 48(6), Article e70112. https://doi.org/10.1002/jimd.70112

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

Castelluccio, N., Spath, K., Li, D., De Coo, I. F. M., Butterworth, L., Wells, D., Mertes, H., Poulton, J., & Heindryckx, B. (2025). Genetic and reproductive strategies to prevent mitochondrial diseases. Human Reproduction Update, 31(4), 269-306. Article dmaf004. https://doi.org/10.1093/humupd/dmaf004

Groeneweg, S., van Geest, F. S., Martín, M., Dias, M., Frazer, J., Medina-Gomez, C., Sterenborg, R. B. T. M., Wang, H., Dolcetta-Capuzzo, A., de Rooij, L. J., Teumer, A., Abaci, A., van den Akker, E. L. T., Ambegaonkar, G. P., Armour, C. M., Bacos, I., Bakhtiani, P., Barca, D., Bauer, A. J., ... Visser, W. E. (2025). Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nature Communications, 16(1), Article 2479. https://doi.org/10.1038/s41467-025-56628-w

Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Brodtkorb, E., Ostergaard, E., de Coo, I., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Majamaa, K., Kaerppae, M., Ortigoza-Escobar, J. D., Tangeraas, T., Berland, S., Harrison, E., Biggs, H., Horvath, R., ... Bindoff, L. A. (2024). Status epilepticus in POLG disease: a large multinational study. Journal of Neurology, 271(8), 5156-5164. https://doi.org/10.1007/s00415-024-12463-5

Wortmann, S. B., Feichtinger, R. G., Abela, L., van Gemert, L. A., Aubart, M., Dufeu-Berat, C.-M., Boddaert, N., de Coo, R., Stühn, L., Hebbink, J., Heinritz, W., Hildebrandt, J., Himmelreich, N., Korenke, C., Lehman, A., Leyland, T., Makowski, C., Martinez Marin, R. J., Marzin, P., ... Willemsen, M. A. (2024). Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics, 10(2), Article e200146. https://doi.org/10.1212/NXG.0000000000200146

Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B., ... van Spronsen, F. J. (2023). A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening. International Journal of Neonatal Screening, 9(4), Article 56. https://doi.org/10.3390/ijns9040056

van Eeghen, A. M., Gaasterland, C. M. W., Haneveld, M. J. K., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Maruani, A., Hadzsiev, K., van Balkom, I. D. C., Alhambra, N., Anderlid, B. M., Andres, S., Aten, E., Guedes, R. B., Bonaglia, M. C., Bourgeron, T., Burdeus-Olavarrieta, M., Carbin, M. J., Kuiper, E., ... European Phelan-McDermid syndrome guideline consortium (2023). Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(7), Article 104747. https://doi.org/10.1016/j.ejmg.2023.104747

Vallbona-Garcia, A., Hamers, I. H. J., van Tienen, F. H. J., Ochoteco-Asensio, J., Berendschot, T. T. J. M., de Coo, I. F. M., Benedikter, B. J., Webers, C. A. B., Smeets, H. J. M., & Gorgels, T. G. M. F. (2023). Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients. Experimental Eye Research, 232(1), Article 109500. https://doi.org/10.1016/j.exer.2023.109500