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European Journal of Medical Genetics|November 14, 2021
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrumMarie-Charlotte Villy, Julien Masliah-Planchon, Bruno Buecher, et al.Journal of Medical Genetics|June 25, 2020
Co-occurrence of germline BRCA1 and CDH1 pathogenic variantsMarie-Charlotte Villy, Emmanuelle Mouret-Fourme, Lisa Golmard, et al.Familial Cancer|April 13, 2022
Preimplantation genetic testing in patients with genetic susceptibility to cancerMarie-Charlotte Villy, Nelly Frydman, Céline Moutou, et al.Neuropathology and Applied Neurobiology|July 31, 2023
First report of medulloblastoma in a patient with MUTYH-associated polyposisMarie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, et al.Journal of Medical Genetics|June 1, 2023
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplicationMathilde Filser, Mathias Schwartz, Kevin Merchadou, et al.JAMA Ophthalmology|April 30, 2026
Prevalence of the Predisposing Gene MBD4 for Uveal MelanomaAnaïs Le Ven, Marie-Charlotte Villy, Marine Le Mentec, et al.Clinical Epigenetics|July 3, 2025
Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoterHélène Delhomelle, Olfa Trabelsi-Grati, Marie-Charlotte Villy, et al.Neurology. Genetics|November 2, 2020
Congenital immobility and stiffness related to biallelic ATAD1 variantsRoxane Bunod, Diane Doummar, Sandra Whalen, 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.Journal of Medical Genetics|July 4, 2023
MSH3: a confirmed predisposing gene for adenomatous polyposisMarie-Charlotte Villy, Julien Masliah-Planchon, Anne Schnitzler, et al.Pageof 2