Articles dans des revues avec comité de lecture (63)
  1. 1. Kaafarani, A., Darche-Gabinaud, R., Bisteau, X., Imbault, V., Wittamer, V., Parmentier, M., & Pirson, I. (2023). Proximity Interactome Analysis of Super Conserved Receptors Expressed in the Brain Identifies EPB41L2, SLC3A2, and LRBA as Main Partners. Cells, 12(22), 2625. doi:10.3390/cells12222625
  2. 2. 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
  3. 3. Becker, A., Felici, C., Lambert, L., de Saint Martin, A., Abi‐Warde, M., Schaefer, E., Zix, C., Zamani, M., Sadeghian, S., Zeighami, J., Seifi, T., Azizimalamiri, R., Shariati, G., Galehdari, H., Selig, M., Ding, C., Duerinckx, S., Pirson, I., Abramowicz, M., Clément, G., Leheup, B., Jonveaux, P., Lefort, G., Bronner, M., Renaud, M., & Bonnet, C. (2023). Putative founder effect of Arg338* AP4M1 ( SPG50 ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. Clinical genetics, 103(3), 346-351. doi:10.1111/cge.14264
  4. 4. Jacquemin, V., Versbraegen, N., Duerinckx, S., Massart, A., Soblet, J., Perazzolo, C., Deconinck, N., Brischoux-Boucher, E., De Leener, A., Revencu, N., Janssens, S., Moorgat, S., Blaumeiser, B., Avela, K., Touraine, R., Abou Jaoude, I., Keymolen, K., Saugier-Veber, P., Lenaerts, T., Abramowicz, M., & Pirson, I. (2023). Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics, 17(1), 16. doi:10.1186/s40246-023-00464-w
  5. 5. Ruaud, L., Drunat, S., Elmaleh-Bergès, M., Ernault, A., Guilmin Crepon, S., MCPH Consortium,, Pirson, I., El Ghouzzi, V., Auvin, S., Verloes, A., Passemard, S., et al. (2022). Neurological outcome in WDR62 primary microcephaly. Developmental medicine and child neurology, 64(4), 509-517. doi:10.1111/dmcn.15060
  6. 6. Duerinckx, S., Désir, J., Perazzolo, C., Badoer, C., Jacquemin, V., Soblet, J., Maystadt, I., Tunca, Y., Blaumeiser, B., Ceulemans, B., Courtens, W., Debray, F.-G., Donckier De Donceel, A., Devriendt, K., Jansen, A. C. M. A., Keymolen, K., Lederer, D., Loeys, B., Meuwissen, M. E. C., Moortgat, S., Mortier, G., Nassogne, M.-C., Sekhara, T., Van Coster, R., Van Den Ende, J., Van Der Aa, N., Van Esch, H., Vanakker, O., Verhelst, H., Vilain, C., Weckhuysen, S., Passemard, S., Verloes, A., Aeby, A., Deconinck, N., Van Bogaert, P., Pirson, I., & Abramowicz, M. (2021). Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy. Molecular genetics & genomic medicine. doi:10.1002/mgg3.1768
  7. 7. Jacquemin, V., Antoine, M., Duerinckx, S., Massart, A., Désir, J., Perazzolo, C., Cassart, M., Thomas, D., Segers, V., Lecomte, S., Abramowicz, M., & Pirson, I. (2020). TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly. Human molecular genetics. doi:10.1093/hmg/ddaa245
  8. 8. Antoine, M., Vandenbroere, I., Ghosh, S., Erneux, C., & Pirson, I. (2020). IRSp53 is a novel interactor of SHIP2: A role of the actin binding protein Mena in their cellular localization in breast cancer cells. Cellular signalling, 73, 109692. doi:10.1016/j.cellsig.2020.109692
  9. 9. Duerinckx, S., Jacquemin, V., Drunat, S., Vial, Y., Passemard, S., Perazzolo, C., Massart, A., Soblet, J., Racapé, J., Desmyter, L., Badoer, C., Papadimitriou, S., Le Borgne, Y.-A., Lefort, A., Libert, F., De Maertelaer, V., Rooman, M., Costagliola, S., Verloes, A., Lenaerts, T., Pirson, I., & Abramowicz, M. (2020). Digenic inheritance of human primary microcephaly delineates centrosomal and non centrosomal pathways. Human mutation, 41(2), 512-524. doi:10.1002/humu.23948
  10. 10. Polla, D. L., Rahikkala, E., Bode, M. M., Määttä, T., Varilo, T., Loman, T., Philips, A. A., Kurki, M., Palotie, A., Körkkö, J., Avela, K., Jacquemin, V., Pirson, I., Abramowicz, M., de Brouwer, A. A., Kuismin, O., van Bokhoven, H., & Järvelä, I. (2019). Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. European journal of human genetics. doi:10.1038/s41431-019-0383-8
  11. 11. Duerinckx, S., Meuwissen, M. E. C., Perazzolo, C., Desmyter, L., Pirson, I., & Abramowicz, M. (2018). Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Molecular genetics & genomic medicine. doi:10.1002/mgg3.400
  12. 12. 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
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