Publications by authors named "T Frebourg"

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Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Emilie Montellier, Olivier Manches, Jonathan Gaucher, Claire Freycon, David Hoyos

EBioMedicine· December 2025

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Li-Fraumeni-associated osteosarcomas: The French experience.
Emilie Saucier, Gaëlle Bougeard, Anne Gomez-Mascard, Catherine Schramm, Rachid Abbas, Thierry Frebourg

Pediatr Blood Cancer· December 2024

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Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of variants causing in-frame splicing alterations.
Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, Gaia Castelain, Audrey Killian, Thierry Frebourg

J Med Genet· May 2023

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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot

Hum Mutat· December 2022

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The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.
Catherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, Thierry Frebourg

Front Genet· April 2022

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