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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J, Magdelaine C, Lunati A, Dzugan H, Dejoie C, Rego M, Beze Beyrie P, Bieth E, Calvas P, Cintas P, Delaubrier A, Demurger F, Gilbert-Dussardier B, Goizet C, Journel H, Laffargue F, Magy L, Taithe F, Toutain A, Urtizberea JA, Sturtz F, Lia AS. Lerat J, et al. Among authors: dzugan h. J Neurol Sci. 2019 Nov 15;406:116376. doi: 10.1016/j.jns.2019.06.027. Epub 2019 Jun 26. J Neurol Sci. 2019. PMID: 31634715
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.
Derouault P, Chauzeix J, Rizzo D, Miressi F, Magdelaine C, Bourthoumieu S, Durand K, Dzugan H, Feuillard J, Sturtz F, Mérillou S, Lia AS. Derouault P, et al. Among authors: dzugan h. PLoS Comput Biol. 2020 Feb 12;16(2):e1007503. doi: 10.1371/journal.pcbi.1007503. eCollection 2020 Feb. PLoS Comput Biol. 2020. PMID: 32049956 Free PMC article.