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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: smagghe l. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Cytogenetic and molecular abnormalities in Waldenström's macroglobulinemia patients: Correlations and prognostic impact.
Krzisch D, Guedes N, Boccon-Gibod C, Baron M, Bravetti C, Davi F, Armand M, Smagghe L, Caron J, Bernard OA, Susin S, Chapiro E, Leblond V, Nguyen-Khac F, Roos-Weil D; on behalf the FILO (French Innovative Leukemia Organization) group. Krzisch D, et al. Among authors: smagghe l. Am J Hematol. 2021 Dec 1;96(12):1569-1579. doi: 10.1002/ajh.26339. Epub 2021 Sep 27. Am J Hematol. 2021. PMID: 34462944 Free article.
Prognostic impact of genetic abnormalities in 536 first-line chronic lymphocytic leukaemia patients without 17p deletion treated with chemoimmunotherapy in two prospective trials: Focus on IGHV-mutated subgroups (a FILO study).
Nguyen-Khac F, Baron M, Guièze R, Feugier P, Fayault A, Raynaud S, Troussard X, Droin N, Damm F, Smagghe L, Susin S, Leblond V, Dartigeas C, Van den Neste E, Leprêtre S, Bernard OA, Roos-Weil D; on behalf the FILO (French Innovative Leukaemia Organization) Group. Nguyen-Khac F, et al. Among authors: smagghe l. Br J Haematol. 2024 Apr 23. doi: 10.1111/bjh.19459. Online ahead of print. Br J Haematol. 2024. PMID: 38654616
The t(X;20)(q13;q13) translocation is a good prognostic factor in myeloid neoplasms: A report of 25 cases from the Groupe Francophone de Cytogénétique Hématologique.
Nguyen-Khac F, Muller M, Chapiro E, Abermil N, Collonge-Rame MA, Daudignon A, Gaillard B, Guzun D, Ittel A, Lefebvre C, Lesesve JF, Mozziconacci MJ, Penther D, Quessada J, Settegrana C, Smagghe L, Terre C, Veronese L, Hirsch P, Troadec MB. Nguyen-Khac F, et al. Among authors: smagghe l. Am J Hematol. 2024 Apr 13. doi: 10.1002/ajh.27328. Online ahead of print. Am J Hematol. 2024. PMID: 38613825 No abstract available.
del(8p) and TNFRSF10B loss are associated with a poor prognosis and resistance to fludarabine in chronic lymphocytic leukemia.
Jondreville L, Dehgane L, Doualle C, Smagghe L, Grange B, Davi F, Lerner LK, Garnier D, Bravetti C, Tournilhac O, Roos-Weil D, Boubaya M, Chapiro E, Susin SA, Nguyen-Khac F. Jondreville L, et al. Among authors: smagghe l. Leukemia. 2023 Nov;37(11):2221-2230. doi: 10.1038/s41375-023-02035-3. Epub 2023 Sep 26. Leukemia. 2023. PMID: 37752286