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Marion Imbert‐Bouteille

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing
2021 · Pascal Pujol, Massimo Barberis, et al. · European Journal of Cancer · 203
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PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 69
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The genomic and clinical landscape of fetal akinesia
2019 · Matthias Pergande, Susanne Motameny, et al. · Genetics in Medicine · 59
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LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
2018 · Marion Imbert-Bouteille, Frédéric Tran Mau Them, et al. · European Journal of Medical Genetics · 28
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Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
2020 · Laure Cayrefourcq, Marie-Claire Vincent, et al. · Scientific Reports · 25
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TP53-associated early breast cancer: new observations from a large cohort
2024 · Renata L Sandoval, Michele Bottosso, et al. · JNCI Journal of the National Cancer Institute · 23
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Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
2019 · Marion Imbert‐Bouteille, Marion Gauthier‐Villars, et al. · Molecular Genetics & Genomic Medicine · 16
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An incidental finding of maternal multiple myeloma by non invasive prenatal testing
2017 · Marion Imbert‐Bouteille, Jean Chiesa, et al. · Prenatal Diagnosis · 16
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Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
2019 · Camille Lemattre, Marion Imbert-Bouteille, et al. · European Journal of Human Genetics · 14
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Ovarian Clear Cell Carcinoma in Cowden Syndrome
2019 · Kevin Yauy, Marion Imbert-Bouteille, et al. · Journal of the National Comprehensive Cancer Network · 10
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No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families
2021 · Marion Imbert-Bouteille, Carole Corsini, et al. · Genes · 2
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Correction: The genomic and clinical landscape of fetal akinesia
2020 · Matthias Pergande, Susanne Motameny, et al. · Genetics in Medicine · 2
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Cancer risks for ATM variant heterozygotes
2026 · Yue Jiao, David E. Goldgar, et al. · Genetics in Medicine · 1
Oncogenética: cánceres de mama hereditarios
2019 · P. Vande Perre, M. Imbert-Bouteille, et al. · EMC - Ginecología-Obstetricia · 1
172eP Impact of mainstream germline genetic testing (MGT) by medical oncologists on genetic counseling yield and care pathway efficiency in ovarian cancer
2026 · E. Donati, W. Sbika, et al. · ESMO Open
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Abstract PD4-10: The prognosis of invasive early hormone receptor positive HER2 negative breast cancer in women harboring a pathogenic or likely pathogenic TP53 germline variant
2026 · R. Sandoval, L. Tianyu, et al. · Clinical Cancer Research
Abstract PS16-04: Differences in breast cancer phenotype by germline TP53 variant functional classification
2025 · Renata L. Sandoval, Michele Bottosso, et al. · Clinical Cancer Research
Cancers très précoces du sein et des ovaires chez les femmes porteuses d'une mutation BRCA1/2 : prévalence et influence sur l'âge du diagnostic des apparentées
2019 · Marion Imbert‐Bouteille · HAL
Le DPNI sur sang maternel : les pièges du cffDNA
2017 · Vincent Gatinois, Elodie Guagliardo, et al. · Morphologie
Non Invasive Prenatal Testing: incidental finding of multiple myeloma
2016 · Marion Imbert‐Bouteille, Jean Chiésa, et al.
Works count: 20
Citation count: 469
H-index: 10
I10-index: 10
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