Articles dans des revues avec comité de lecture (48)
  1. 11. Paternoster, L., Soblet, J., Aeby, A., De Tiege, X., Goldman, S., Yue, W. W., Coppens, S., Smits, G., Vilain, C., & Deconinck, N. (2020). Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3. American journal of medical genetics. Part A, 182(11), 2685-2693. doi:10.1002/ajmg.a.61805
  2. 12. Zhang, Q., Vandernoot, I., Goffard, J.-C., Smits, G., Migeotte, I., et al. (2020). Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science (New York, N.Y.), 370(6515). doi:10.1126/science.abd4570
  3. 13. Balikova, I., Sanak, N. S., Fanny, D., Smits, G., Soblet, J., De Baere, E., & Cordonnier, M. (2020). Three cases of molecularly confirmed Knobloch syndrome. Ophthalmic genetics, 41(1), 83-87. doi:10.1080/13816810.2020.1737948
  4. 14. Mignot, C., McMahon, A. A., Bar, C., Campeau, P. P., Davidson, C., Buratti, J., Nava, C., Jacquemont, M.-L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A. L., Brunga, L., Ceulemans, B., Coubes, C., Cristancho, A. A., Cunningham, F., Dehouck, M.-B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. E., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. J., Miller, K., Minassian, B. B., Morales, J., Moutard, M.-L., Munnich, A., Ortiz-Gonzalez, X. X., Pinard, J.-M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B. B., Møller, R. R., Lesca, G., Helbig, K. K., Nabbout, R., Verbeek, N. N., & Depienne, C. (2019). IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in medicine, 21(4), 837-849. doi:10.1038/s41436-018-0268-1
  5. 15. Dierckxsens, N., Mardulyn, P., & Smits, G. (2019). Unraveling heteroplasmy patterns with NOVOPlasty. NAR Genomics and Bioinformatics, 2(1). doi:10.1093/nargab/lqz011
  6. 16. Versbraegen, N., Fouché, A., Nachtegael, C., Papadimitriou, S., Gazzo, A., Smits, G., & Lenaerts, T. (2019). Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases. Artificial intelligence in medicine, 99, 101690. doi:10.1016/j.artmed.2019.06.006
  7. 17. Renaux, A., Papadimitriou, S., Versbraegen, N., Nachtegael, C., Boutry, S., Nowé, A., Smits, G., & Lenaerts, T. (2019). ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations. Nucleic acids research, 47(W1), W93-W98. doi:10.1093/nar/gkz437
  8. 18. Papadimitriou, S., Gazzo, A., Versbraegen, N., Nachtegael, C., Aerts, J., Moreau, Y., Van Dooren, S., Nowe, A., Smits, G., & Lenaerts, T. (2019). Predicting disease-causing variant combinations. Proceedings of the National Academy of Sciences of the United States of America, 116(24), 11878-11887. doi:10.1073/pnas.1815601116
  9. 19. Brachet, C., Kozhemyakina, E., Boros, E., Heinrichs, C., Balikova, I., Soblet, J., Smits, G., Vilain, C., & Mathers, P. H. (2019). Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus and cleft palate in mice and men. The Journal of clinical endocrinology and metabolism. doi:10.1210/jc.2018-02316
  10. 20. Tanyalçin, I., Ferte, J., Ancien, F., Smits, G., Rooman, M., & Vranken, W. F. (2018). Lexicon Visualization Library and Javascript for Scientific data visualization. Computing in science & engineering, 20, 50-65. doi:10.1109/MCSE.2018.011111125
  11. 21. Gazzo, A., Raimondi, D., Daneels, D., Moreau, Y., Smits, G., Van Dooren, S., & Lenaerts, T. (2017). Understanding mutational effects in digenic diseases. Nucleic acids research, 45(15), e140. doi:10.1093/nar/gkx557
  12. 22. Soblet, J., Dimov, I., Graf von Kalckreuth, C., Cano-Chervel, J., Baijot, S., Pelc, K., Sottiaux, M., Vilain, C., Smits, G., & Deconinck, N. (2017). BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. American journal of medical genetics. Part A, 176(1), 201-208. doi:10.1002/ajmg.a.38479
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