Phenotypic complexities of rare heterozygous neurexin-1 deletions
Michael B. Fernando, Yu Fan, Yanchun Zhang, Alex Tokolyi, Aleta Murphy, Sarah Kammourh, P. J. Michael Deans, Sadaf Ghorbani, Ryan Onatzevitch, Adriana Pero, Christopher Padilla, Sarah Williams, Erin K. Flaherty, Iya Prytkova, Lei Cao, , Kristen Brennand
This study investigates the phenotypic complexities of rare heterozygous NRXN1 deletions, showing cell-type-specific synaptic effects through LOF and GOF mechanisms, highlighting the need for precision medicine strategies.
Nature · Apr 9, 2025Peer-reviewedNeuroscience