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Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: bardel c. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies.
Hayette S, Grange B, Vallee M, Bardel C, Huet S, Mosnier I, Chabane K, Simonet T, Balsat M, Heiblig M, Tigaud I, Nicolini FE, Mareschal S, Salles G, Sujobert P. Hayette S, et al. Among authors: bardel c. Hemasphere. 2021 Jan 27;5(2):e522. doi: 10.1097/HS9.0000000000000522. eCollection 2021 Feb. Hemasphere. 2021. PMID: 33880432 Free PMC article.
Statistical method to compare massive parallel sequencing pipelines.
Elsensohn MH, Leblay N, Dimassi S, Campan-Fournier A, Labalme A, Roucher-Boulez F, Sanlaville D, Lesca G, Bardel C, Roy P. Elsensohn MH, et al. Among authors: bardel c. BMC Bioinformatics. 2017 Mar 1;18(1):139. doi: 10.1186/s12859-017-1552-9. BMC Bioinformatics. 2017. PMID: 28249565 Free PMC article.
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Marmontel O, Rollat-Farnier PA, Wozny AS, Charrière S, Vanhoye X, Simonet T, Chatron N, Collin-Chavagnac D, Nony S, Dumont S, Mahl M, Jacobs C, Janin A, Caussy C, Poinsot P, Tauveron I, Bardel C, Millat G, Peretti N, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: bardel c. Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 33111339
Transcriptional regulation of CRMP5 controls neurite outgrowth through Sox5.
Naudet N, Moutal A, Vu HN, Chounlamountri N, Watrin C, Cavagna S, Malleval C, Benetollo C, Bardel C, Dronne MA, Honnorat J, Meissirel C, Besançon R. Naudet N, et al. Among authors: bardel c. Cell Mol Life Sci. 2018 Jan;75(1):67-79. doi: 10.1007/s00018-017-2634-6. Epub 2017 Sep 1. Cell Mol Life Sci. 2018. PMID: 28864883 Free PMC article.
56 results