Genetic & Genomic MedicinemedRxivPreprint
Age-aware genotype-phenotype architecture across 87 genetic neurodevelopmental disorders
Ludovica Montanucci, Tobias Brünger, Christian M. Boßelmann…·Dennis Lal
This study creates an age-aware genotype-phenotype atlas for 87 neurodevelopmental disorders using data from the Simons Searchlight cohort, identifying gene-specific risk profiles and age-dependent penetrance patterns.