Publications

Le C et al., Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities. medRxiv [Preprint]. 2024 Dec 17:2024.10.11.24312856. doi: 10.1101/2024.10.11.24312856. PMID: 39502664; PMCID: PMC11537320.