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Page 1
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Raad S, Rolain M, Coutant S, Derambure C, Lanos R, Charbonnier F, Bou J, Bouvignies E, Lienard G, Vasseur S, Farrell M, Ingster O, Baert Desurmont S, Kasper E, Bougeard G, Frébourg T, Tournier I. Raad S, et al. Among authors: lienard g. J Med Genet. 2021 Dec;58(12):796-805. doi: 10.1136/jmedgenet-2020-107059. Epub 2020 Oct 13. J Med Genet. 2021. PMID: 33051313 Free PMC article.
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. Boulouard F, et al. Among authors: lienard g. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. Clin Genet. 2021. PMID: 33454955
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF; FREX Consortium; Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A, Nicolas G. Quenez O, et al. Among authors: lienard g. Eur J Hum Genet. 2021 Jan;29(1):99-109. doi: 10.1038/s41431-020-0672-2. Epub 2020 Jun 26. Eur J Hum Genet. 2021. PMID: 32591635 Free PMC article.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G. Renaux-Petel M, et al. Among authors: lienard g. J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25. J Med Genet. 2018. PMID: 29070607