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Page 1
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M, Lecerf C, Le … See abstract for full author list ➔ Caputo SM, et al. Among authors: muller e. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 Free PMC article.
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
Davy G, Rousselin A, Goardon N, Castéra L, Harter V, Legros A, Muller E, Fouillet R, Brault B, Smirnova AS, Lemoine F, de la Grange P, Guillaud-Bataille M, Caux-Moncoutier V, Houdayer C, Bonnet F, Blanc-Fournier C, Gaildrat P, Frebourg T, Martins A, Vaur D, Krieger S. Davy G, et al. Among authors: muller e. Eur J Hum Genet. 2017 Oct;25(10):1147-1154. doi: 10.1038/ejhg.2017.116. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905878 Free PMC article.
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium; Frébourg T, Vaur D. Castéra L, et al. Among authors: muller e. Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10. Genet Med. 2018. PMID: 29988077 Free article.
Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies.
Koeppel F, Muller E, Harlé A, Guien C, Sujobert P, Trabelsi Grati O, Kosmider O, Miguet L, Mauvieux L, Cayre A, Salgado D, Preudhomme C, Karayan-Tapon L, Tachon G, Coulet F, Lespagnol A, Beroud C, Leroy K, Rouleau E, Soubeyran I. Koeppel F, et al. Among authors: muller e. Eur J Cancer. 2021 Dec;159:1-15. doi: 10.1016/j.ejca.2021.08.047. Epub 2021 Oct 23. Eur J Cancer. 2021. PMID: 34700215
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. Leman R, et al. Among authors: muller e. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36273432 Free PMC article.
Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer.
Leman R, Muller E, Legros A, Goardon N, Chentli I, Atkinson A, Tranchant A, Castera L, Krieger S, Ricou A, Boulouard F, Joly F, Boucly R, Dumont A, Basset N, Coulet F, Chevalier LM, Rouleau E, Leitner K, González-Martin A, Gargiulo P, Lück HJ, Genestie C; PAOLA-1 investigators; Ray-Coquard I, Pujade-Lauraine E, Vaur D. Leman R, et al. Among authors: muller e. Clin Cancer Res. 2023 Nov 1;29(21):4419-4429. doi: 10.1158/1078-0432.CCR-23-0898. Clin Cancer Res. 2023. PMID: 37756555 Free PMC article.
Sensitization of chondrosarcoma cells with PARP inhibitor and high-LET radiation.
Césaire M, Ghosh U, Austry JB, Muller E, Cammarata FP, Guillamin M, Caruso M, Castéra L, Petringa G, Cirrone GAP, Chevalier F. Césaire M, et al. Among authors: muller e. J Bone Oncol. 2019 Jun 20;17:100246. doi: 10.1016/j.jbo.2019.100246. eCollection 2019 Aug. J Bone Oncol. 2019. PMID: 31312595 Free PMC article.
3,046 results