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 (53)
  3. 1. 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
  4. 2. 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
  5. 3. 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
  6. 4. 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
  7. 5. 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
  8. 6. 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
  9. 7. 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
  10. 8. 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
  11. 9. Papadimitriou, S., Gravel, B., Nachtegael, C., De Baere, E., Loeys, B., Vikkula, M., Smits, G., & Lenaerts, T. (2023). Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases. Human Genetics and Genomics Advances, 4(1), 100165. doi:10.1016/j.xhgg.2022.100165
  12. 10. Grolaux, R., Hardy, A., Olsen, C., Van Dooren, S., Smits, G., & Defrance, M. (2022). Identification of differentially methylated regions in rare diseases from a single-patient perspective. Clinical Epigenetics, 14(1). doi:10.1186/s13148-022-01403-7
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