Open access
Aug 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.
It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.
Molly Godfrey, Michael A. Levy, Christopher Campbell et al.
· European Journal of Human Ge... · 0 citations