Age-aware genotype-phenotype architecture across 87 genetic neurodevelopmental disorders
Ludovica Montanucci, Tobias Brünger, Christian M. Boßelmann, Alina Ivaniuk, Samden Lathoo, Andrés Jiménez-Gómez, Andreas Brunklaus, Christos L. Papadelis, Guo‐Qiang Zhang, Wendy K. Chung, Costin Leu, 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.
medRxiv · Dec 2, 2025 · PreprintGenetic & Genomic Medicine