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Author

Mathias Cavaillé

Observed names: Cavaille, Mathias, Cavaillé, Mathias, Mathias Cavaille
Observed institutions: Inserm, Université Clermont Auvergne, Centre Jean Perrin, Université Laval, Imagerie Moléculaire et Stratégies Théranostiques, Centre de recherche du CHU de Québec-Université Laval, CHU de Québec-Université Laval
ORCID: 0000-0002-4079-4891
Observed ORCIDs: 0000-0002-4079-4891, 0000-0001-5123-426X
OpenAlex ID: A5046833756
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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Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review
2024 · Benjamin Chevalier, Lucie Coppin, et al. · The Journal of Clinical Endocrinology & Metabolism · 44
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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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Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants
2023 · Marie-Charlotte Villy, Anaïs Le Ven, et al. · JNCI Journal of the National Cancer Institute · 19
Association and Performance of Polygenic Risk Scores for Breast Cancer Among French Women Presenting or Not a Familial Predisposition to the Disease
2022 · Yue Jiao, Thérèse Truong, et al. · European Journal of Cancer · 19
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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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Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco
2021 · Abdelilah Laraqui, Mathias Cavaillé, et al. · Journal of Genomics · 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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PERCEPTION Trial protocol
2020 · Sejdi Lusho, Xavier Durando, et al. · Medicine · 6
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
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer
2023 · Zangbéwendé Guy Ouedraogo, Florian Ceruti, et al. · Genes · 3
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Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature
2023 · Mathis Lepage, Nancy Uhrhammer, et al. · Genes · 3
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XENOBREAST Trial: A prospective study of xenografts establishment from surgical specimens of patients with triple negative or luminal b breast cancer
2020 · Hugo Veyssière, Judith Passildas, et al. · F1000Research · 3
Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models
2026 · Ouerdia Haroun, Julie Lapointe, et al. · European Journal of Human Genetics · 1
Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing
2025 · Morgane Boedec, Camille Aucouturier, et al. · Familial Cancer · 1
Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial
2025 · Mélanie Godiveau, Angeline Ginzac, et al. · Frontiers in Oncology · 1
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Perspectives from a multi-stakeholder workshop for implementing a risk-stratified breast cancer screening program in Canada
2026 · Nareh Safieh-Garabedian, Antonis C. Antoniou, et al. · Communications Medicine
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Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants
2025 · Anais Folletet, Morgane Helyon, et al. · Frontiers in Oncology
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Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non‐Medullary Thyroid Cancer Using Familial Whole‐Exome‐Sequencing
2025 · Duygu Abbasoglu, Mathis Lepage, et al. · Clinical Genetics
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Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes
2025 · Maximiliano Ribeiro-Guerra, Marie-Gabrielle Dondon, et al. · Cancers
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis
2024 · Maud Privat, Flora Ponelle-Chachuat, et al. · Human Mutation
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The Molecular Classification of Ovarian Cancer and Implication for Treatment
2023 · Myriam Kossaï, Mathias Cavaille, et al. · Essentials of Diagnostic Gynecological Pathology.
Works count: 34
Citation count: 243
H-index: 9
I10-index: 8
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