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Human Mutation|December 2, 2010
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patientsVirginie Caux-Moncoutier, Laurent Castéra, Carole Tirapo, et al.Genetic Testing|May 13, 2008
Three new BLM gene mutations associated with Bloom syndromeMounira Amor-Guéret, Catherine Dubois-d'Enghien, Anthony Laugé, et al.European Journal of Human Genetics : EJHG|December 20, 2017
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancersLisa Golmard, Laurent Castéra, Sophie Krieger, et al.Carcinogenesis|October 6, 2017
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia familiesAnne-Laure Renault, Noura Mebirouk, Eve Cavaciuti, et al.The Journal of Allergy and Clinical Immunology|June 14, 2011
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotypeRomain Micol, Lilia Ben Slama, Felipe Suarez, et al.Breast Cancer Research : BCR|April 19, 2018
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriersAnne-Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 25, 2022
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic VariantsShuai Li, Valentina Silvestri, Goska Leslie, et al.American Journal of Human Genetics|October 1, 2021
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approachSandrine M Caputo, Lisa Golmard, Mélanie Léone, et al.Pageof 2