Christophe Philippe

Nov 27, 2024 | onlinelibrary.wiley.com | Ange-Line Bruel |Christophe Philippe |Julian Delanne |Emilie Sjøstrøm

Conflicts of Interest The authors declare no conflicts of interest. Supporting Information Filename Description cge14646-sup-0001-Supinfo.docxWord 2007 document , 34.3 KB File 1. Case-stories of participants #1–4 in our cohort. cge14646-sup-0002-TableS1.xlsxExcel 2007 spreadsheet , 15.1 KB Table S1. Summary of clinical manifestations in the 53 previously reported SGS participants, with disease causing SKI variants based on the literature review.

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

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.