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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. Among authors: golmard l. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
Germline mutation in the RAD51B gene confers predisposition to breast cancer.
Golmard L, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D. Golmard L, et al. BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484. BMC Cancer. 2013. PMID: 24139550 Free PMC article.
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.
Manié E, Popova T, Battistella A, Tarabeux J, Caux-Moncoutier V, Golmard L, Smith NK, Mueller CR, Mariani O, Sigal-Zafrani B, Dubois T, Vincent-Salomon A, Houdayer C, Stoppa-Lyonnet D, Stern MH. Manié E, et al. Among authors: golmard l. Int J Cancer. 2016 Feb 15;138(4):891-900. doi: 10.1002/ijc.29829. Epub 2015 Sep 24. Int J Cancer. 2016. PMID: 26317927 Free article.
Mosaicism and prenatal diagnosis options: insights from retinoblastoma.
Dehainault C, Golmard L, Millot GA, Charpin A, Laugé A, Tarabeux J, Aerts I, Cassoux N, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Dehainault C, et al. Among authors: golmard l. Eur J Hum Genet. 2017 Feb;25(3):381-383. doi: 10.1038/ejhg.2016.174. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000698 Free PMC article.
Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.
Labidi-Galy SI, Olivier T, Rodrigues M, Ferraioli D, Derbel O, Bodmer A, Petignat P, Rak B, Chopin N, Tredan O, Heudel PE, Stuckelberger S, Meeus P, Meraldi P, Viassolo V, Ayme A, Chappuis PO, Stern MH, Houdayer C, Stoppa-Lyonnet D, Buisson A, Golmard L, Bonadona V, Ray-Coquard I. Labidi-Galy SI, et al. Among authors: golmard l. Clin Cancer Res. 2018 Jan 15;24(2):326-333. doi: 10.1158/1078-0432.CCR-17-2136. Epub 2017 Oct 30. Clin Cancer Res. 2018. PMID: 29084914
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.
Golmard L, Castéra L, Krieger S, Moncoutier V, Abidallah K, Tenreiro H, Laugé A, Tarabeux J, Millot GA, Nicolas A, Laé M, Abadie C, Berthet P, Polycarpe F, Frébourg T, Elan C, de Pauw A, Gauthier-Villars M, Buecher B, Stern MH, Stoppa-Lyonnet D, Vaur D, Houdayer C. Golmard L, et al. Eur J Hum Genet. 2017 Dec;25(12):1345-1353. doi: 10.1038/s41431-017-0021-2. Epub 2017 Nov 8. Eur J Hum Genet. 2017. PMID: 29255180 Free PMC article.
Mutiple DICER1-related lesions associated with a germline deep intronic mutation.
Verrier F, Dubois d'Enghien C, Gauthier-Villars M, Bonadona V, Faure-Conter C, Dijoud F, Stoppa-Lyonnet D, Houdayer C, Golmard L. Verrier F, et al. Among authors: golmard l. Pediatr Blood Cancer. 2018 Jun;65(6):e27005. doi: 10.1002/pbc.27005. Epub 2018 Feb 22. Pediatr Blood Cancer. 2018. PMID: 29469200
ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis.
Fiévet A, Bernard V, Tenreiro H, Dehainault C, Girard E, Deshaies V, Hupe P, Delattre O, Stern MH, Stoppa-Lyonnet D, Golmard L, Houdayer C. Fiévet A, et al. Among authors: golmard l. Eur J Hum Genet. 2019 May;27(5):792-800. doi: 10.1038/s41431-018-0317-x. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683922 Free PMC article.
84 results