Skip to main content

1 Result(s)

within Steeve Fourneaux Remove this filter Science, Humanities and Social Sciences, multidisciplinary Remove this filter

and

  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)

    Download PDF (1425 KB) View Article