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  1. Article

    Open Access

    Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

    While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore...

    François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May… in Scientific Reports (2024)

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    Article

    High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

    Exome sequencing (ES) has become the method of choice for diagnosing rare diseases, while the availability of short-read genome sequencing (SR-GS) in a medical setting is increasing. In addition, new sequencin...

    François Lecoquierre, Olivier Quenez, Steeve Fourneaux, Sophie Coutant… in Human Genetics (2023)

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    Article

    The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome

    In the Li-Fraumeni syndrome (LFS) resulting from germline TP53 mutations, the MDM2 SNP309G allele has been shown to be associated with an earlier age of tumour onset, however the significance of this association ...

    Mariette Renaux-Petel, Richard Sesboüé, Stéphanie Baert-Desurmont… in Familial Cancer (2014)