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Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
J Med Genet. 2023 May;60(5):450-459. doi: 10.1136/jmg-2022-108576. Epub 2022 Sep 16.
J Med Genet. 2023.
PMID: 36113988
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Leman R, Tubeuf H, Raad S, Tournier I, Derambure C, Lanos R, Gaildrat P, Castelain G, Hauchard J, Killian A, Baert-Desurmont S, Legros A, Goardon N, Quesnelle C, Ricou A, Castera L, Vaur D, Le Gac G, Ka C, Fichou Y, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Boutry-Kryza N, Schultz I, Caux-Moncoutier V, Rossing M, Walker LC, Spurdle AB, Houdayer C, Martins A, Krieger S.
Leman R, et al. Among authors: hauchard j.
BMC Genomics. 2020 Jan 28;21(1):86. doi: 10.1186/s12864-020-6484-5.
BMC Genomics. 2020.
PMID: 31992191
Free PMC article.
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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Tubeuf H, Caputo SM, Sullivan T, Rondeaux J, Krieger S, Caux-Moncoutier V, Hauchard J, Castelain G, Fiévet A, Meulemans L, Révillion F, Léoné M, Boutry-Kryza N, Delnatte C, Guillaud-Bataille M, Cleveland L, Reid S, Southon E, Soukarieh O, Drouet A, Di Giacomo D, Vezain M, Bonnet-Dorion F, Bourdon V, Larbre H, Muller D, Pujol P, Vaz F, Audebert-Bellanger S, Colas C, Venat-Bouvet L, Solano AR, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Gaildrat P, Sharan SK, Martins A.
Tubeuf H, et al. Among authors: hauchard j.
Cancer Res. 2020 Sep 1;80(17):3593-3605. doi: 10.1158/0008-5472.CAN-20-0895. Epub 2020 Jul 8.
Cancer Res. 2020.
PMID: 32641407
Free PMC article.
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Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Morak M, Pineda M, Martins A, Gaildrat P, Tubeuf H, Drouet A, Gómez C, Dámaso E, Schaefer K, Steinke-Lange V, Koehler U, Laner A, Hauchard J, Chauris K, Holinski-Feder E, Capellá G.
Morak M, et al. Among authors: hauchard j.
Eur J Hum Genet. 2022 Sep;30(9):1051-1059. doi: 10.1038/s41431-022-01106-w. Epub 2022 Jun 9.
Eur J Hum Genet. 2022.
PMID: 35676339
Free PMC article.
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Uncoupling protein-2 controls proliferation by promoting fatty acid oxidation and limiting glycolysis-derived pyruvate utilization.
Pecqueur C, Bui T, Gelly C, Hauchard J, Barbot C, Bouillaud F, Ricquier D, Miroux B, Thompson CB.
Pecqueur C, et al. Among authors: hauchard j.
FASEB J. 2008 Jan;22(1):9-18. doi: 10.1096/fj.07-8945com. Epub 2007 Sep 13.
FASEB J. 2008.
PMID: 17855623
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