Author

Emma Soengas-Gonda

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Case report Oct 2026

Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation

Francisco Javier Cotrina-Vinagre, E. Soengas-Gonda, J. Quesada-Espinosa et al. · Neurological Sciences · 0 citations

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