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Page 1
Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.
Louis J, Rolain M, Levacher C, Baudry K, Pujol P, Ruminy P, Baert Desurmont S, Bou J, Bouvignies E, Coutant S, Kasper E, Lienard G, Vasseur S, Vezain M, Houdayer C, Charbonnier F, Bougeard G. Louis J, et al. Among authors: baert desurmont s. J Med Genet. 2025 Jan 9:jmg-2024-110449. doi: 10.1136/jmg-2024-110449. Online ahead of print. J Med Genet. 2025. PMID: 39788694
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].
Gorokhova S, Rouzier C, Acquaviva-Bourdain C, Baert-Desurmont S, Caputo S, Chatron N, Coulet F, Doco-Fenzy M, Keren B, Le Marechal C, Nicolas G, Procaccio V, Richard P, Romanet P, Snanoudj S, Muller J, Krahn M, Saugier-Veber P. Gorokhova S, et al. Among authors: baert desurmont s. Med Sci (Paris). 2024 Oct;40(10):767-769. doi: 10.1051/medsci/2024104. Epub 2024 Oct 25. Med Sci (Paris). 2024. PMID: 39450962 French. No abstract available.
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.
Guerrini-Rousseau L, Gallon R, Pineda M, Brugières L, Baert-Desurmont S, Corsini C, Dangouloff-Ros V, Gorris MAJ, Haberler C, Hoarau P, Jongmans MC, Kloor M, Loeffen J, Rigaud C, Robbe J, Vibert R, Weijers D, Wimmer K, Colas C; On behalf of the “Care For CMMRD” consortium. Guerrini-Rousseau L, et al. Among authors: baert desurmont s. Fam Cancer. 2024 Nov;23(4):447-457. doi: 10.1007/s10689-024-00403-1. Epub 2024 Jul 20. Fam Cancer. 2024. PMID: 39031223 Free PMC article.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Among authors: baert desurmont s. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free article.
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
Meulemans L, Baert Desurmont S, Waill MC, Castelain G, Killian A, Hauchard J, Frebourg T, Coulet F, Martins A, Muleris M, Gaildrat P. Meulemans L, et al. Among authors: baert desurmont s. 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
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Yauy K, Lecoquierre F, Baert-Desurmont S, Trost D, Boughalem A, Luscan A, Costa JM, Geromel V, Raymond L, Richard P, Coutant S, Broutin M, Lanos R, Fort Q, Cackowski S, Testard Q, Diallo A, Soirat N, Holder JM, Duforet-Frebourg N, Bouge AL, Beaumeunier S, Bertrand D, Audoux J, Genevieve D, Mesnard L, Nicolas G, Thevenon J, Philippe N. Yauy K, et al. Among authors: baert desurmont s. Genet Med. 2022 Jun;24(6):1316-1327. doi: 10.1016/j.gim.2022.02.008. Epub 2022 Mar 17. Genet Med. 2022. PMID: 35311657 Free article.
Detecting inversions in routine molecular diagnosis in MMR genes.
Kasper E, Coutant S, Manase S, Vasseur S, Macquère P, Bougeard G, Faivre L, Ingster O, Baert-Desurmont S, Houdayer C. Kasper E, et al. Among authors: baert desurmont s. Fam Cancer. 2022 Oct;21(4):423-428. doi: 10.1007/s10689-021-00287-5. Epub 2022 Jan 8. Fam Cancer. 2022. PMID: 34997397
58 results