Gaetan Lesca

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.

Jun 21, 2023 | nature.com | Stephanie Valence |Fowzan S. Alkuraya |Enrico Bertini |Elise Brischoux-Boucher |Ange-Line Bruel |Alfredo Brusco | +27 more

AbstractBRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations.