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Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 26, 2011
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practiceCatherine Costa, Virginie Pruliere-Escabasse, Alix de Becdelievre, et al.Journal of the National Cancer Institute|December 29, 2020
Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 TrialCéline Callens, Dominique Vaur, Isabelle Soubeyran, et al.Journal of Medical Genetics|September 25, 2023
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigreesMathias Schwartz, Sabrina Ibadioune, Albain Chansavang, et al.Clinical Genetics|March 28, 2023
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus bloodMathias Schwartz, Virginie Moncoutier, Adrien Peytral, et al.European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, et al.NPJ Genomic Medicine|July 31, 2025
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcriptMathias Schwartz, Mathilde Filser, Kevin Merchadou, 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.Clinical Pharmacokinetics|July 4, 2024
Intra-individual Dose Escalation of Abiraterone According to Its Plasma Exposure in Patients with Progressive Metastatic Castration-Resistant Prostate Cancer: Results of the OPTIMABI TrialJérôme Alexandre, Stephane Oudard, Lisa Golmard, et al.Breast (Edinburgh, Scotland)|December 14, 2023
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvementMathias Schwartz, Sabrina Ibadioune, Sophie Vacher, et al.European Journal of Cancer (Oxford, England : 1990)|July 23, 2021
Molecular diagnosis of retinoblastoma by circulating tumor DNA analysisIrene Jiménez, Éléonore Frouin, Mathieu Chicard, et al.Pageof 8