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[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].
Rucheton B, Ader F, Goudenege D, Filaut S, Legrand L, Bloch A, MitoDiag R, Fressart V, Bonnefont-Rousselot D, Mochel F, Lamari F, Richard P, Procaccio V, Bannwarth S. Rucheton B, et al. Among authors: bannwarth s. Ann Biol Clin (Paris). 2021 Feb 1;79(1):28-40. doi: 10.1684/abc.2021.1621. Ann Biol Clin (Paris). 2021. PMID: 33586649 Free article. French.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Bris C, Goudenège D, Desquiret-Dumas V, Gueguen N, Bannwarth S, Gaignard P, Rucheton B, Trimouille A, Allouche S, Rouzier C, Saadi S, Jardel C, Slama A, Barth M, Verny C, Spinazzi M, Cassereau J, Colin E, Armelle M, Pereon Y, Martin-Negrier ML, Paquis-Flucklinger V, Letournel F, Lenaers G, Bonneau D, Reynier P, Amati-Bonneau P, Procaccio V. Bris C, et al. Among authors: bannwarth s. Genet Med. 2021 Sep;23(9):1769-1778. doi: 10.1038/s41436-021-01206-w. Epub 2021 May 26. Genet Med. 2021. PMID: 34040194 Free article.
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V. Goudenège D, et al. Among authors: bannwarth s. Genet Med. 2019 Jun;21(6):1407-1416. doi: 10.1038/s41436-018-0350-8. Epub 2018 Nov 5. Genet Med. 2019. PMID: 30393377 Free article.
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N. Decoux-Poullot AG, et al. Among authors: bannwarth s. Ann Endocrinol (Paris). 2020 Jun;81(2-3):68-77. doi: 10.1016/j.ando.2020.04.007. Epub 2020 Apr 28. Ann Endocrinol (Paris). 2020. PMID: 32409007
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V. Bannwarth S, et al. J Med Genet. 2013 Oct;50(10):704-14. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11. J Med Genet. 2013. PMID: 23847141 Free PMC article.
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. Bannwarth S, et al. Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6. Mitochondrion. 2008. PMID: 18078792
82 results