I.F.M. de Coo

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, 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

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. (2025). MCT8 deficiency in females. Journal of Clinical Endocrinology & Metabolism, Article dgaf311. Advance online publication. https://doi.org/10.1210/clinem/dgaf311

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

de Coo, I. F. M., Jesse, S., Le, T. L., Sala, C., & European Phelan-McDermid Syndrome Consortium (2023). Consensus recommendations on Epilepsy in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(6), Article 104746. https://doi.org/10.1016/j.ejmg.2023.104746

Vallbona-Garcia, A., Lindsey, P. J., Kamps, R., Stassen, A. P. M., Nguyen, N., van Tienen, F. H. J., Hamers, I. H. J., Hardij, R., van Gisbergen, M. W., Benedikter, B. J., de Coo, I. F. M., Webers, C. A. B., Gorgels, T. G. M. F., & Smeets, H. J. M. (2023). Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup. Frontiers in Ophthalmology, 3, Article 1309836. https://doi.org/10.3389/fopht.2023.1309836