Articles dans des revues avec comité de lecture (53)
  1. 11. Nachtegael, C., Gravel, B., Dillen, A., Smits, G., Nowe, A., Papadimitriou, S., & Lenaerts, T. (2022). Scaling up oligogenic diseases research with OLIDA: The Oligogenic Diseases Database. Database, 2022, baac023. doi:10.1093/database/baac023
  2. 12. Chomette, L., Migeotte, I., Dewachter, C., Vachiery, J.-L., Smits, G., & Bondue, A. (2022). Early-onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data. Pulmonary circulation, 12(2), e12052. doi:10.1002/pul2.12052
  3. 13. Bourlard, L., Manigart, Y., donner, C., Smits, G., Désir, J., Migeotte, I., & Pichon, B. (2021). Rarity of fetal cells in exocervical samples for noninvasive prenatal diagnosis. Journal of perinatal medicine. doi:10.1515/jpm-2021-0291
  4. 14. Marangoni, M., Smits, G., Ceysens, G., Costa, E., Coulon, R., Daelemans, C., De Coninck, C., Derisbourg, S., Gajewska, K., Garofalo, G., Gounongbe, C., Guizani, M., Holoye, A., Houba, C., Makhoul, J., Norgaard, C., Regnard, C., Romée, S., Soto, J., Stagel-Trabbia, A., Van Rysselberge, M., Vercoutere, A., Zaytouni, S., Bouri, S., D'Haene, N., D'Onle, D., Dugauquier, C., Racu, M.-L., Rocq, L., Segers, V., Verocq, C., Avni, E. F., Cassart, M., Massez, A., Blaumeiser, B., Brischoux-Boucher, E., Bulk, S., De Ravel, T., Debray, F.-G., Dimitrov, B., Janssens, S., Keymolen, K., Laterre, M., van Berkel, K., Van Maldergem, L., Vandernoot, I., Vilain, C., donner, C., Tecco, L., Thomas, D., Désir, J., Abramowicz, M., & Migeotte, I. (2021). Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts. Genetics in medicine. doi:10.1016/j.gim.2021.09.016
  5. 15. Khan, T., Rahman, M., Al Ali, F., Huang, S. S., Ata, M., Zhang, Q., Bastard, P., Liu, Z., Jouanguy, E., Beziat, V., Cobat, A., Nasrallah, G. K., Yassine, H. H., Smatti, M. M., Saeed, A., Vandernoot, I., Goffard, J.-C., Smits, G., Migeotte, I., Haerynck, F., Meyts, I., Abel, L., Casanova, J.-L., Hasan, M. R., & Marr, N. (2021). Distinct antibody repertoires against endemic human coronaviruses in children and adults. JCI insight. doi:10.1172/jci.insight.144499
  6. 16. 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
  7. 17. 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
  8. 18. 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
  9. 19. 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
  10. 20. Dierckxsens, N., Mardulyn, P., & Smits, G. (2019). Unraveling heteroplasmy patterns with NOVOPlasty. NAR Genomics and Bioinformatics, 2(1). doi:10.1093/nargab/lqz011
  11. 21. 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
  12. 22. 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
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