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Mathilde Gay‐Bellile

Observed names: GAY-BELLILE, Mathilde, Gay-Bellile, Mathilde, M. Gay-Bellile, Mathilde Gay Bellile, Mathilde Gay-Bellile, Mathilde Gay-bellile
Observed institutions: Inserm, Université Clermont Auvergne, Hôpital René Huguenin, Centre Jean Perrin, Centre Hospitalier Universitaire de Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques, Université de Clermont I
ORCID: 0000-0002-3059-532X
Observed ORCID: 0000-0002-3059-532X
OpenAlex ID: A5004445372
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
2021 · Lieske H. Schrijver, Antonis C. Antoniou, et al. · American Journal of Obstetrics and Gynecology · 67
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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 · 61
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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
2013 · Céline Pebrel-Richard, Anne Debost-Legrand, et al. · European Journal of Human Genetics · 57
TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer
2017 · Mathilde Gay-Bellile, Lauren Véronèse, et al. · Oncotarget · 50
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
2021 · Sandrine M. Caputo, Lisa Golmard, et al. · The American Journal of Human Genetics · 37
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Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome
2014 · Carole Goumy, Fanny Laffargue, et al. · American Journal of Medical Genetics Part A · 28
Telomere status in chronic lymphocytic leukemia with TP53 disruption
2016 · Romain Guièze, Mélanie Pages, et al. · Oncotarget · 23
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ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis
2016 · Mathilde Gay‐Bellile, Pierre Romero, et al. · The Journal of Pathology Clinical Research · 23
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Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing
2018 · Mathias Cavaillé, Flora Ponelle-Chachuat, et al. · Frontiers in Genetics · 21
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De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate
2014 · Carole Goumy, Mathilde Gay‐Bellile, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 19
Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay
2014 · Celine Pebrel‐Richard, Charles Rouzade, et al. · American Journal of Medical Genetics Part A · 15
BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer
2019 · Fabrice Kwiatkowski, Mathilde Gay-Bellile, et al. · Hereditary Cancer in Clinical Practice · 12
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Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature
2023 · Mathias Cavaillé, Delphine Crampon, et al. · BMC Medical Genomics · 11
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Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition
2020 · Mathias Cavaillé, Nancy Uhrhammer, et al. · Genes Chromosomes and Cancer · 11
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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
2015 · Julien Masliah-Planchon, Céline Dupont, et al. · BMC Medical Genetics · 11
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BRACAVENIR - impact of a psychoeducational intervention on expectations and coping in young women (aged 18–30 years) exposed to a high familial breast/ovarian cancer risk: study protocol for a randomized controlled trial
2016 · Fabrice Kwiatkowski, Pascal Dessenne, et al. · Trials · 10
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Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature
2023 · Guilhaume Garrigues, Marie Batisse‐Lignier, et al. · Molecular Genetics & Genomic Medicine · 9
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Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers
2020 · Mathias Cavaillé, Nancy Uhrhammer, et al. · Clinical Genetics · 9
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Is BRCA2 involved in early onset colorectal cancer risk?
2019 · Mathilde Gay‐Bellile, Maud Privat, et al. · Clinical Genetics · 8
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A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation
2016 · Carole Goumy, Mathilde Gay‐Bellile, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 8
PERCEPTION Trial protocol
2020 · Sejdi Lusho, Xavier Durando, et al. · Medicine · 6
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay
2014 · Stéphan Kemeny, Céline Pebrel-Richard, et al. · European Journal of Medical Genetics · 5
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories
2025 · Edwige Kasper, Flavie Boulouard, et al. · International Journal of Cancer · 4
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Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant
2011 · C. Goumy, S. Kemeny, et al. · Gene · 4
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation
2025 · Mathis Lepage, Nancy Uhrhammer, et al. · Molecular Genetics & Genomic Medicine · 3
Works count: 50
Citation count: 521
H-index: 12
I10-index: 16
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