COMPLETE CITATION
Citation and identifiers
Shen W, Krautscheid P, Rutz AM, et al.. “De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.” European Journal of Medical Genetics. 62(1):55–60 · doi:10.1016/j.ejmg.2018.05.003.
- PubMed ID
- 29753921 ↗
RESEARCH QUESTION
Do de novo loss-of-function variants in ASH1L define an emerging neurodevelopmental disorder?
This focused early series supports de novo loss of function as a disease mechanism but is too small to define the full phenotype, natural history, or feature frequencies.
INTERPRETATION BOUNDARY
Read the finding and limit together.
What this study supports
Foundational focused human series supporting de novo loss-of-function as a disease mechanism.
What it cannot establish
Small early series; it does not define the full phenotype, natural history, or prevalence of individual features.
OPEN THE STUDY