Lydie Burglen

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.

Jun 15, 2023 | nature.com | Katie Ayers |Nicole A. Siddall |Liang Zhao |Josephine Bowles |Ginevra Zanni |Lydie Burglen | +6 more

Correction to: Nature Communications https://doi.org/10.1038/s41467-023-39040-0, published online 09 June 2023In this article, the author name Kenneth McElreavey was incorrectly written as Kenneth MacElreavey. The original article has been corrected.

Jun 9, 2023 | nature.com | Katie Ayers |Liang Zhao |Josephine Bowles |Ginevra Zanni |Lydie Burglen |Ralf B. Schittenhelm | +6 more

AbstractSquamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine individuals presenting with intellectual disability, global developmental delay and a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals.