Articles dans des revues avec comité de lecture (53)
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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.181560111624.
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.2018-0231625.
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.2018.01111112526.
Soblet, J., Dimov, I., Graf von Kalckreuth, C., Cano-Chevrel, 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.3847927.
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/gkx55728.
Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A., Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N., & Smits, G. (2017). Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome medicine, 9(1), 67. doi:10.1186/s13073-017-0452-y30.
Gazzo, A., Daneels, D., Cilia, E., Bonduelle, M., Abramowicz, M., Van Dooren, S., Smits, G., & Lenaerts, T. (2015). DIDA: A curated and annotated digenic diseases database. Nucleic acids research. doi:10.1093/nar/gkv106831.
Vanakker, O., Vilain, C., Janssens, K., Van Der Aa, N., Smits, G., Bandelier, C., Blaumeiser, B., Bulk, S., Caberg, J.-H., De Leener, A., De Rademaeker, M., de Ravel, T., Désir, J., Destree, A., Dheedene, A., Gaillez, S., Grisart, B., Hellin, A.-C., Janssens, S., Keymolen, K., Menten, B., Pichon, B., Ravoet, M., Revencu, N., Rombout, S., Staessens, C., Van Den Bogaert, A., Van Den Bogaert, K., Vermeesch, J. R., Kooy, F. R., Sznajer, Y., & Devriendt, K. (2014). Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. European journal of medical genetics, 57(4), 151-156. doi:10.1016/j.ejmg.2014.02.00232.
Simonis, N., Migeotte, I., Lambert, N., Perazzolo, C., de Silva, D. C., Dimitrov, B., Heinrichs, C., Janssens, S., Kerr, B., Mortier, G., Van Vliet, G., Lepage, P., Casimir, G., Abramowicz, M., Smits, G., & Vilain, C. (2013). FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. Journal of medical genetics, 50(9), 585-592. doi:10.1136/jmedgenet-2013-10160333.
Keniry, A., Oxley, D., Monnier, P., Kyba, M., Dandolo, L., Smits, G., & Reik, W. (2012). The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r. Nature cell biology, 14(7), 659-665. doi:10.1038/ncb252134.
Daelemans, C., Ritchie, M. E., Smits, G., Abu-Amero, S., Sudbery, I. M., Forrest, M. S., Campino, S., Clark, T. G., Stanier, P., Kwiatkowski, D. D., Deloukas, P., Dermitzakis, E. T., Tavaré, S., Moore, G. E., & Dunham, I. (2010). High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC genetics, 11, 25. doi:10.1186/1471-2156-11-25