RDMM-Europe project published!
Solve-RD partners Antonio Vitobello from the University Hospital Dijon-Bourgogne and Elke Bogaert & Bart Dermaut from Ghent University in Belgium were connected by our European Rare Disease Models & Mechanisms Network (RDMM-Europe) initiative. They received Seeding Grant funding to generate Drosophila models that support the validation of new SRSF1 variants identified in a cohort of patients with syndromic developmental disorder associated with intellectual disability. Their findings have now been accepted for publication in The American Journal of Human Genetics.
Elke Bogaert, Aurore Garde, Thierry Gautier et al. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. The American Journal of Human Genetics (2023). https://doi.org/10.1016/j.ajhg.2023.03.016