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Page 1
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet. 2023 Jun;142(6):773-783. doi: 10.1007/s00439-023-02553-1. Epub 2023 Apr 19.
Hum Genet. 2023.
PMID: 37076692
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: fourneaux s.
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.
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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: fourneaux s.
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
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Evaluation of Analytical and Clinical Performance and Usefulness in a Real-Life Hospital Setting of Two in-House Real-Time RT-PCR Assays to Track SARS-CoV-2 Variants of Concern.
Moisan A, Soares A, De Oliveira F, Alessandri-Gradt E, Lecoquierre F, Fourneaux S, Plantier JC, Gueudin M.
Moisan A, et al. Among authors: fourneaux s.
Viruses. 2023 May 4;15(5):1115. doi: 10.3390/v15051115.
Viruses. 2023.
PMID: 37243201
Free PMC article.
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Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I.
Baert-Desurmont S, et al. Among authors: fourneaux s.
Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2.
Eur J Hum Genet. 2018.
PMID: 29967336
Free PMC article.
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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F, Cassinari K, Drouot N, May A, Fourneaux S, Charbonnier F, Derambure C, Coutant S, Saugier-Veber P, Hoischen A, Charbonnier C, Nicolas G.
Lecoquierre F, et al. Among authors: fourneaux s.
Sci Rep. 2024 Mar 4;14(1):5289. doi: 10.1038/s41598-024-53358-9.
Sci Rep. 2024.
PMID: 38438430
Free PMC article.
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The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome.
Renaux-Petel M, Sesboüé R, Baert-Desurmont S, Vasseur S, Fourneaux S, Bessenay E, Frébourg T, Bougeard G.
Renaux-Petel M, et al. Among authors: fourneaux s.
Fam Cancer. 2014 Mar;13(1):127-30. doi: 10.1007/s10689-013-9667-2.
Fam Cancer. 2014.
PMID: 23884452
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