Camille Engel

Dec 21, 2023 | jmg.bmj.com | Caroline A. Racine |Anne-Sophie Denommé-Pichon |Camille Engel |Frédéric Tran Mau-Them

Collaborators Orphanomix Physician’s Group: Alain Verloes, Alice Goldenberg, Alice Masurel, Aline Vincent, Anne-Marie Frances-Guidet, Aude Tessier, Audrey Putoux, Béatrice Laudier, Bénédicte Demeer, Benoit Funalot, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Leheup, Céline Poirsier, Charlotte Dubucs, Christine Chiaverini, Christine Coubes, Christine Francannet, Cindy Colson, Claire Bansept, Constance Wells, Cyril Goizet, Cyril Mignot, Daniel Amram, Daniel Amsallem, Didier Lacombe,...

Aug 15, 2023 | jmg.bmj.com | Caroline A. Racine |Anne-Sophie Denommé-Pichon |Camille Engel |Frédéric Tran Mau-Them

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

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.