Articles dans des revues avec comité de lecture (148)
  1. 22. Duerinckx, S., Verhelst, H., Perazzolo, C., David, P., Desmyter, L., Pirson, I., & Abramowicz, M. (2017). Severe congenital microcephaly with AP4M1 mutation, a case report. BMC medical genetics, 18(1), 48. doi:10.1186/s12881-017-0412-9
  2. 23. N'Gbo N'Gbo Ikazabo, R., David, P., Vokaer, B., Liard, A., Ligot, N., Abramowicz, M., & Bier, J. C. (2017). A rare case of dementia and behavioral disorders in a sexagenarian. EC Neurology, 6(1), 18-21.
  3. 24. Abramowicz, M. (2016). Microcephaly risk with RUSC2. Developmental medicine and child neurology, 58(12), 1211-1212. doi:10.1111/dmcn.13293
  4. 25. Ghisdal, L., Baron, C., Lebranchu, Y., Viklicky, O., Konarikova, A., Naesens, M., Kuypers, D., Dinic, M., Alamartine, E., Touchard, G., Antoine-Moussiaux, T., Essig, M., Rerolle, J.-P., Merville, P., Taupin, J. L., Le Meur, Y., Grall-Jezequel, A., Glowacki, F., Noel, C., Legendre, C., Anglicheau, D., Broeders, E. N., Coppieters, W., Docampo, E., Georges, M., Ajarchouh, Z., Massart, A., Racapé, J., Abramowicz, D., & Abramowicz, M. (2016). Genome-wide association study of acute renal graft rejection. American Journal of Transplantation. doi:10.1111/ajt.13912
  5. 26. Massart, A., Pallier, A., Le Moal, M., Noel, C., Chesneau, M., Le Moine, A., Abramowicz, M., Racapé, J., Maggiore, U., Abramowicz, D., et al. (2016). The DESCARTES-Nantes survey of kidney transplant recipients displaying clinical operational tolerance identifies 35 new tolerant patients and 34 almost tolerant patients. Nephrology, dialysis, transplantation. doi:10.1093/ndt/gfv437
  6. 27. Saadi, A., Verny, F., Siquier-Pernet, K., Bole-Feysot, C., Nitschké, P., Munnich, A., Abada-Dendib, M., Chaouch, M., Abramowicz, M., & Colleaux, L. (2016). Refining the phenotype associated with CASC5 mutation. Neurogenetics, 17(1), 71-78. doi:10.1007/s10048-015-0468-7
  7. 28. 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/gkv1068
  8. 29. Fumagalli, D., Gacquer, D., Rothé, F., Lefort, A., Libert, F., Brown, D., Kheddoumi, N., Shlien, A., Konopka, T., Salgado, R., Larsimont, D., Polyak, K., Willard-Gallo, K., Desmedt, C., Piccart-Gebhart, M., Abramowicz, M., Campbell, P. J., Sotiriou, C., & Detours, V. (2015). Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome. Cell reports. doi:10.1016/j.celrep.2015.09.032
  9. 30. Manolio, T. T., Abramowicz, M., et al. (2015). Global implementation of genomic medicine: We are not alone. Science Translational Medicine, 7(290), 290ps13. doi:10.1126/scitranslmed.aab0194
  10. 31. Remiche, G., Kadhim, H., Abramowicz, M., Mavroudakis, N., Monnier, N., & Lunardi, J. (2015). A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. Neuromuscular disorders, 25(5), 397-402. doi:10.1016/j.nmd.2015.01.016
  11. 32. Dupuis, N., Drunat, S., Vermelle-Andrzejewski, M., Vilain, C., Abramowicz, M., Désir, J., Bonaventure, J., Gareil, N., Boncompain, G., Csaba, Z., Perez, F., Fafouri, A., Passemard, S., Gressens, P., El Ghouzzi, V., Bayot, A., Kumar, M., Lecharpentier, T., Ball, G., Edwards, D., Bernard, V., & Dournaud, P. (2015). Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. Human molecular genetics, 24(10), ddv038, 2771-2783. doi:10.1093/hmg/ddv038
  12. 33. Lambert, N., Wermenbol, V., Pichon, B., Acosta Verdugo, S., Van Den Ameele, J., Perazzolo, C., Messina, D., Musumeci, M. F., Dessars, B., De Leener, A., Abramowicz, M., & Vilain, C. (2014). A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder. Autism Research, 7(5), 617-622. doi:10.1002/aur.1396
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