COMPLETE CITATION
Citation and identifiers
Papendorp C, Nolan E, Higashimori H, et al.. “Mutations in ASH1L cause a neurodevelopmental disorder with sex differences in epilepsy and autism.” bioRxiv. 2025.02.21.639570 · doi:10.1101/2025.02.21.639570.
- PubMed ID
- Not recorded
RESEARCH QUESTION
Do the ascertained human and mouse datasets in this preprint suggest sex-associated differences in epilepsy or autism-related phenotypes after ASH1L disruption?
The preprint combined limited clinical observations with two mouse backgrounds, neuronal morphology, seizures, and electrophysiology, allowing exploratory sex-associated comparisons but not population-level penetrance estimates.
INTERPRETATION BOUNDARY
Read the finding and limit together.
What this study supports
Combines clinical phenotyping with two mouse backgrounds, neuronal morphology, seizures, and electrophysiology; reports sex-associated differences in its human and mouse datasets.
What it cannot establish
Preprint with limited and ascertained human data. It does not establish population-level sex-specific penetrance or prognosis.
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