Éléonore Viora-Dupont

May 26, 2024 | nature.com | Éléonore Viora-Dupont |Gaetan Lesca |Antonio Vitobello |Anne-Sophie Denommé-Pichon |Ange-Line Bruel |Frédéric Tran Mau-Them | +10 more

AbstractGeneration and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results.

Feb 6, 2023 | nature.com | Anne-Sophie Denommé-Pichon |Ange-Line Bruel |Frédéric Tran Mau-Them |Antonio Vitobello |Amélie Piton |Pierre-Yves Maillard | +10 more

AbstractHaploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date.