Parties d'ouvrages collectifs (2)
  1. 1. Delbaere, A., Montanelli, L., Smits, G., Costagliola, S., & Vassart, G. (2006). Genetic aspects of OHSS. In J. Gerris, F. Olivennes, & A. Delvigne (Eds.), Ovarian Hyperstimulation Syndrome (pp. 121-130). Taylor & Francis.(Taylor and Francis Medical Books).
  2. 2. Vassart, G., Bonomi, M., Claeysen, S., Govaerts, C., Ho, S. C., Pardo, L., Smits, G., Vlaeminck-Guillem, V., & Costagliola, S. (2003). Glycoprotein Hormone Receptors: A Unique Paradigm for Ligand Binding and GPCR Activation. In Handbook of Cell Signaling (pp. 161-166). Elsevier Inc. doi:10.1016/B978-012124546-7/50387-9
    3.   Articles dans des revues avec comité de lecture (56)
  3. 1. Fagnoul, S., Ghisdal, L., Marangoni, M., Detry, C., Dacremont-Rodrigues, P., Bisteau, X., Imbault, V., Catalano, C., Smits, G., Le Moine, A., & Migeotte, I. (2026). A Partial UMOD Deletion Results in Altered UMOD Synthesis and ADTKD. Kidney Medicine, 101265. doi:10.1016/j.xkme.2026.101265
  4. 2. Neuens, S., Soblet, J., Penninckx, A., Detry, C., Badoer, C., Desmyter, L., Peyrassol, X., Wilkin, F., Busson, A., Bruneau, M., Grenet, M.-L., Le Morillon, A., Aeby, A., Deconinck, N., Prigogine, C., Monier, A., Juvené, E., Balfroid, T., Van Hecke, A., Christiaens, F., Depondt, C., Brachet, C., Delvenne, V., Lufin, N., Bouysran, Y., Kammoun, M., Daneels, D., Caljon, B., Croes, D., Olsen, C., Van Dooren, S., Migeotte, I., Vandernoot, I., Marangoni, M., Coppens, S., Smits, G., & Vilain, C. (2025). Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders. European journal of medical genetics, 105030. doi:10.1016/j.ejmg.2025.105030
  5. 3. Segers, K., Benoit, F., Levy, S., Martinet, V., Schulz, J., Bertrand, F., De Bourgoing, G., Tatillo, C., Praet, J.-P., Vandernoot, I., Desmyter, L., Peyrassol, X., Kehagias, P., Smits, G., Dumoulin, B., Besse-Hammer, T., Dachy, B., & Surquin, M. (2024). G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors. Alzheimer disease and associated disorders, 38(4), 328-331. doi:10.1097/WAD.0000000000000643
  6. 4. Baptista Freitas, M., Desmyter, L., Badoer, C., Smits, G., Vandernoot, I., & T’Kint De Roodenbeke, D. (2024). POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program. European journal of human genetics, 32(8), 980-986. doi:10.1038/s41431-024-01611-0
  7. 5. Grasberger, H., Dumitrescu, A. M., Liao, X. H., Swanson, E. E., Weiss, R. E., Srichomkwun, P., Pappa, T., Chen, J., Yoshimura, T., Hoffmann, P., França, M. M., Tagett, R., Onigata, K., Costagliola, S., Ranchalis, J., Vollger, M. M., Stergachis, A. A., Chong, J. J., Bamshad, M. M., Smits, G., Vassart, G., & Refetoff, S. (2024). STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nature genetics, 56(5), 877-888. doi:10.1038/s41588-024-01717-7
  8. 6. Gravel, B., Renaux, A., Papadimitriou, S., Smits, G., Nowe, A., & Lenaerts, T. (2024). Prioritization of oligogenic variant combinations in whole exomes. Bioinformatics, 40(4), btae184. doi:10.1093/bioinformatics/btae184
  9. 7. Guillaume, A., Stejskal, V., Smits, G., & Kelen, D. (2024). A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report. Frontiers in Pediatrics, 12, 1303772. doi:10.3389/fped.2024.1303772
  10. 8. Giuili, E., Grolaux, R., Macedo, C. Z. N. M. C., Desmyter, L., Pichon, B., Neuens, S., Vilain, C., Olsen, C., Van Dooren, S., Smits, G., & Defrance, M. (2023). Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs). Human genetics. doi:10.1007/s00439-023-02609-2
  11. 9. Massart, A., Danger, R., Olsen, C., Emond, M., Viklicky, O., Jacquemin, V., Soblet, J., Duerinckx, S., Croes, D., Perazzolo, C., Hruba, P., Daneels, D., Caljon, B., Sever, M. S., Pascual, J., Miglinas, M., Pirson, I., Ghisdal, L., Smits, G., Giral, M., Abramowicz, D., Abramowicz, M., & Brouard, S. (2023). An exome-wide study of renal operational tolerance. Frontiers in medicine, 9. doi:10.3389/fmed.2022.976248
  12. 10. Chomette, L., Hupkens, E., Romitti, M., Dewachter, L., Vachiery, J.-L., Bailly, S., Costagliola, S., Smits, G., Tillet, E., & Bondue, A. (2023). Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity. American journal of medical genetics. Part A. doi:10.1002/ajmg.a.63236
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